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
SLIT3	6586	broad.mit.edu	37	5	168135054	168135054	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:168135054G>T	ENST00000519560.1	-	26	3190	c.2771C>A	c.(2770-2772)cCg>cAg	p.P924Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.P931Q|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.P924Q|CTC-558O2.1_ENST00000521870.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	924	EGF-like 1.				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)			ATTCTTGCACGGGCTGGAGAG	0.602000													22	77					1.1804e-14	1.91079e-14	1	1	0
MIR513A1	574509	broad.mit.edu	37	X	146295053	146295053	+	RNA	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:146295053T>C	ENST00000385138.1	-	0	56					NR_030231.1																						ttagttcacataaatgacacc	0.453000													5	8					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66829200	66829200	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:66829200C>A	ENST00000423207.2	+	10	1670	c.1185C>A	c.(1183-1185)caC>caA	p.H395Q	PDE4B_ENST00000329654.4_Missense_Mutation_p.H410Q|PDE4B_ENST00000371049.3_Missense_Mutation_p.H410Q|PDE4B_ENST00000480109.2_Missense_Mutation_p.H177Q|PDE4B_ENST00000371045.5_Missense_Mutation_p.H238Q	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	410					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACAGCCTGCACGCTGCTGATG	0.438000													4	25					0.014758	0.0155687	1	1	0
KRT2	3849	broad.mit.edu	37	12	53045387	53045387	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:53045387C>T	ENST00000309680.3	-	1	561	c.540G>A	c.(538-540)gaG>gaA	p.E180E		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	180	Coil 1A.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTTTGATCTGCTCACGCTCTT	0.522000													10	77					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34090820	34090820	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:34090820G>C	ENST00000397527.1	+	30	5343	c.4623G>C	c.(4621-4623)caG>caC	p.Q1541H	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1485H	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1541	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)			TTGAGTCCCAGAGAGGACAGG	0.493000													5	58					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95840711	95840711	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:95840711C>A	ENST00000376887.4	-	10	1463	c.1349G>T	c.(1348-1350)gGg>gTg	p.G450V	ABCC4_ENST00000536256.1_Missense_Mutation_p.G375V|ABCC4_ENST00000412704.1_Missense_Mutation_p.G450V|ABCC4_ENST00000431522.1_Missense_Mutation_p.G450V|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	450	ABC transporter 1.				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)	ACTCACCTTCCCTGCTCCCAC	0.473000													16	97					1.28384e-07	1.63134e-07	1	1	0
PEG3	5178	broad.mit.edu	37	19	57326551	57326551	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:57326551G>T	ENST00000326441.9	-	10	3622	c.3259C>A	c.(3259-3261)Cct>Act	p.P1087T	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P961T|PEG3_ENST00000598410.1_Missense_Mutation_p.P963T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1087T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1087					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)		TGAATGACAGGGTCTTCAATT	0.517000													11	74					0.0135373	0.0143706	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55782702	55782702	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:55782702C>G	ENST00000373965.2	-	20	2891	c.2497G>C	c.(2497-2499)Gtc>Ctc	p.V833L	PCDH15_ENST00000414778.1_Missense_Mutation_p.V831L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V804L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V833L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V826L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V826L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V755L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V826L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V826L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.V437L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V789L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V826L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	826	Cadherin 8.				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)				TCAACAAGGACAGTGTATGTT	0.418000										HNSCC(58;0.16)			28	111					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423231	26423231	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:26423231C>A	ENST00000335473.7	+	43	7541	c.7291C>A	c.(7291-7293)Ctc>Atc	p.L2431I	MYO18B_ENST00000536101.1_Missense_Mutation_p.L2431I|MYO18B_ENST00000407587.2_Missense_Mutation_p.L2432I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2431						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						ACTCCCAAGCCTCGACTACGA	0.557000													24	103					9.86323e-18	1.68713e-17	1	1	0
KEL	3792	broad.mit.edu	37	7	142639549	142639549	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:142639549T>G	ENST00000355265.2	-	18	2483	c.2009A>C	c.(2008-2010)cAg>cCg	p.Q670P		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	670					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)					GAAGATCTGCTGGGGGCTGAG	0.577000													3	18					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98248113	98248113	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:98248113C>G	ENST00000430669.2	-	3	825	c.240G>C	c.(238-240)aaG>aaC	p.K80N	PTCH1_ENST00000421141.1_5'UTR|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000418258.1_5'UTR|PTCH1_ENST00000375274.2_Missense_Mutation_p.K145N|PTCH1_ENST00000429896.2_5'UTR|PTCH1_ENST00000331920.6_Missense_Mutation_p.K146N|PTCH1_ENST00000437951.1_Missense_Mutation_p.K80N|PTCH1_ENST00000468211.2_Missense_Mutation_p.K80N			Q13635	PTC1_HUMAN	patched 1	146					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			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)				CTTCTCCAATCTTCTGGCGAG	0.403000													4	138					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122734456	122734456	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:122734456T>C	ENST00000267199.4	-	6	849	c.737A>G	c.(736-738)tAt>tGt	p.Y246C	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.Y207C	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	246					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GAGTCCTTCATATGTCAGCTG	0.358000													19	103					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117479	47117479	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:47117479C>A	ENST00000562435.1	-	9	1615	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	NETO2_ENST00000303155.5_Missense_Mutation_p.D404Y	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	411						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TCTGCCAGGTCTGCAGAAATC	0.512000										HNSCC(25;0.065)			9	50					0.00448238	0.00484349	1	1	0
ZNF71	58491	broad.mit.edu	37	19	57133482	57133482	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:57133482G>T	ENST00000328070.6	+	3	1061	c.827G>T	c.(826-828)gGg>gTg	p.G276V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	276						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCCGAGTGCGGGCGAGCCTTC	0.662000													10	74					4.68919e-08	6.09595e-08	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113358410	113358410	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:113358410C>G	ENST00000297405.5	-	41	6602	c.6358G>C	c.(6358-6360)Ggt>Cgt	p.G2120R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2080R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2050R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2016R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2120	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGATCACACCACTGAAGTCT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	61					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345462	33345462	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:33345462T>G	ENST00000374796.2	-	8	3659	c.1089A>C	c.(1087-1089)ttA>ttC	p.L363F	NCOA6_ENST00000359003.2_Missense_Mutation_p.L363F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	363	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GTACCGTGGCTAAGGATGGTC	0.582000													22	92					0	0	1	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225393	26225393	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:26225393C>G	ENST00000360408.1	+	1	11	c.11C>G	c.(10-12)aCt>aGt	p.T4S		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	4					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				ATGGCGCGTACTAAGCAGACG	0.532000													24	84					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12243512	12243512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:12243512C>A	ENST00000334213.5	-	4	1713	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*	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	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TGAGTCCTTTCATGATATCGA	0.413000													31	119					2.61193e-14	4.14087e-14	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101342017	101342017	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:101342017C>A	ENST00000344327.3	-	9	2730	c.2306G>T	c.(2305-2307)aGt>aTt	p.S769I	TRPC6_ENST00000360497.4_Missense_Mutation_p.S714I|TRPC6_ENST00000532133.1_Missense_Mutation_p.S691I|TRPC6_ENST00000348423.4_Missense_Mutation_p.S653I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	769					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)		GGACTTTGGACTCGGCACCAG	0.453000													9	51					0.0581538	0.0604427	1	1	0
VPS72	6944	broad.mit.edu	37	1	151157999	151157999	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:151157999T>A	ENST00000354473.4	-	3	404	c.368A>T	c.(367-369)cAa>cTa	p.Q123L	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)	123					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)			GCCGTCATCTTGTAGTTCTAA	0.443000													58	372					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287225	74287225	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:74287225C>G	ENST00000262765.5	-	4	3264	c.3085G>C	c.(3085-3087)Gag>Cag	p.E1029Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1029							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGAAATGTCTCCACTGCCGTG	0.527000													7	130					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60588583	60588583	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:60588583G>T	ENST00000373886.3	+	21	2861	c.2857G>T	c.(2857-2859)Ggt>Tgt	p.G953C		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	953					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTCCTGGAAGGTGGAGCGAG	0.493000													9	49					4.68919e-08	6.09595e-08	1	1	0
BCAS3	54828	broad.mit.edu	37	17	59067346	59067346	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:59067346C>T	ENST00000589222.1	+	15	1304	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	BCAS3_ENST00000588462.1_Silent_p.C412C|BCAS3_ENST00000588874.1_Silent_p.C183C|BCAS3_ENST00000390652.5_Silent_p.C412C|BCAS3_ENST00000407086.3_Silent_p.C412C|BCAS3_ENST00000585744.1_Silent_p.C183C|BCAS3_ENST00000408905.3_Silent_p.C412C			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	412						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)			AGGACATCTGCTTCAGCCATG	0.433000													12	83					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54492140	54492140	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:54492140G>C	ENST00000375135.3	-	7	2219	c.1486C>G	c.(1486-1488)Cat>Gat	p.H496D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	496	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGCACCTCATGGATGATGACT	0.552000													15	30					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67724488	67724488	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:67724488A>T	ENST00000347310.5	+	11	1738	c.1567A>T	c.(1567-1569)Agg>Tgg	p.R523W	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.R268W|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	523					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						AAATAATCCCAGGTTACAAAA	0.343000													13	25					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99669845	99669845	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:99669845C>A	ENST00000336292.6	+	5	1397	c.1277C>A	c.(1276-1278)aCt>aAt	p.T426N	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.T141N|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.T426N	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	427	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						AACGTCAGAACTTTCTCTCCA	0.498000													8	53					5.4927e-09	7.47397e-09	1	1	0
GALNT8	26290	broad.mit.edu	37	12	4835915	4835915	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:4835915C>T	ENST00000252318.2	+	2	766	c.429C>T	c.(427-429)ctC>ctT	p.L143L	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	143						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCCAGGACCTCTTCCGGAAGT	0.557000													6	79					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672552	108672552	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:108672552G>T	ENST00000261047.3	-	1	190	c.58C>A	c.(58-60)Cat>Aat	p.H20N	GUCA1C_ENST00000393963.3_Missense_Mutation_p.H20N|GUCA1C_ENST00000471108.1_Missense_Mutation_p.H20N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	20	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TACCACACATGGGTCTCTTGT	0.433000													8	65					0.00621372	0.00664632	1	1	0
EED	8726	broad.mit.edu	37	11	85989472	85989472	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:85989472G>C	ENST00000263360.6	+	12	1917	c.1231G>C	c.(1231-1233)Gct>Cct	p.A411P	EED_ENST00000528180.1_Missense_Mutation_p.A331P|EED_ENST00000351625.6_Missense_Mutation_p.A436P|EED_ENST00000327320.4_3'UTR|EED_ENST00000527888.1_Missense_Mutation_p.A76P	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	411	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TAAATGTGGTGCTGCTATTCG	0.418000													22	76					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767937	77767937	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:77767937C>A	ENST00000521891.2	+	10	9228	c.8780C>A	c.(8779-8781)cCg>cAg	p.P2927Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2882Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2901Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2882Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2882						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGATCGGCCGGGTCACAAG	0.498000										HNSCC(33;0.089)			6	23					0.00198382	0.00215743	1	1	0
CAMLG	819	broad.mit.edu	37	5	134074471	134074471	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:134074471G>A	ENST00000297156.2	+	1	281	c.161G>A	c.(160-162)gGg>gAg	p.G54E	CAMLG_ENST00000514518.1_Missense_Mutation_p.G54E	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	54					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	CACAGGCCCGGGAGCGGCGCG	0.617000													6	26					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39813790	39813790	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:39813790T>C	ENST00000544979.2	-	5	3150	c.2686A>G	c.(2686-2688)Acc>Gcc	p.T896A	ZHX3_ENST00000560361.1_3'UTR|ZHX3_ENST00000559234.1_3'UTR|ZHX3_ENST00000558993.1_Missense_Mutation_p.T242A|ZHX3_ENST00000557816.1_Missense_Mutation_p.T242A|ZHX3_ENST00000309060.3_3'UTR|RP3-511B24.6_ENST00000423733.1_RNA|ZHX3_ENST00000432768.2_3'UTR|ZHX3_ENST00000540170.1_3'UTR			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	282					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TGGCAGGCGGTTTCCCAGACT	0.562000													6	16					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127569112	127569112	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:127569112C>A	ENST00000284690.3	-	1	772	c.282_splice	c.e1+1	p.Q94_splice	DHX32_ENST00000284688.6_Splice_Site_p.Q94_splice	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	94	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTTACTCACCTGAGCGCTCT	0.328000													10	35					1.08611e-07	1.39055e-07	1	1	0
FLG	2312	broad.mit.edu	37	1	152282329	152282329	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152282329C>G	ENST00000368799.1	-	3	5068	c.5033G>C	c.(5032-5034)gGa>gCa	p.G1678A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1678	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)			ATGTCTTTCTCCTGGACTTGA	0.557000									Ichthyosis				21	885					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232518	81232518	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:81232518C>A	ENST00000599697.1	-	7	1291	c.1292G>T	c.(1291-1293)gGc>gTc	p.G431V	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	431	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						GGTGGTGTTGCCGGTGGCTTG	0.567000													35	157					8.16277e-20	1.434e-19	1	1	0
C19orf55	148137	broad.mit.edu	37	19	36259083	36259083	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:36259083G>T	ENST00000544099.1	+	10	1310	c.1247G>T	c.(1246-1248)cGa>cTa	p.R416L	C19orf55_ENST00000396908.4_Missense_Mutation_p.D415Y			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTCCAGGACGATCCCGTGCT	0.632000													9	31					0.00185496	0.00203036	1	1	0
SMYD5	10322	broad.mit.edu	37	2	73441427	73441427	+	Missense_Mutation	SNP	C	C	G	rs114057959	by1000genomes	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:73441427C>G	ENST00000389501.4	+	1	78	c.33C>G	c.(31-33)ttC>ttG	p.F11L		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	11							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGTTCTCCTTCTGCGTGGGCG	0.697000													7	194					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237247	56237247	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:56237247G>A	ENST00000312240.2	-	1	767	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ACAGCTGTCAGATGGGACCCA	0.468000													7	31					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70970913	70970913	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:70970913G>T	ENST00000276594.2	-	6	1549	c.1348C>A	c.(1348-1350)Cac>Aac	p.H450N		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGAAGAATGTGGATCCGAAGC	0.517000													12	54					1.49906e-05	1.76421e-05	1	1	0
TNFRSF14	8764	broad.mit.edu	37	1	2489852	2489852	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:2489852C>T	ENST00000355716.4	+	3	548	c.249C>T	c.(247-249)taC>taT	p.Y83Y	TNFRSF14_ENST00000409119.1_Silent_p.Y83Y|TNFRSF14_ENST00000442392.2_3'UTR	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	83					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CAGGCACCTACATTGCCCACC	0.622000			"""Mis, N, F"""		follicular lymphoma								20	150					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129115	248129115	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248129115C>A	ENST00000366480.3	+	1	581	c.482C>A	c.(481-483)gCa>gAa	p.A161E	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)			CTCATGGTTGCATGTGCATGG	0.413000													26	320					1.04121e-07	1.3453e-07	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30033974	30033974	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:30033974C>T	ENST00000328224.6	-	2	1485	c.252G>A	c.(250-252)agG>agA	p.R84R		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	84				RRRRQ -> EEEAT (in Ref. 1; AAA60034).		voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GTCGCCTCCTCCTCCGACTAC	0.632000													24	41					0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6586755	6586755	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:6586755C>A	ENST00000377705.5	-	11	1992		c.e11+1			NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9						maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGGCTCACCTGGCACTTA	0.577000													12	75					4.36969e-10	6.14374e-10	1	1	0
PPP1R10	5514	broad.mit.edu	37	6	30571350	30571350	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:30571350G>A	ENST00000376511.2	-	16	2218	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	556	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCAGAACTGGAGGCAACTTG	0.562000													7	161					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43656846	43656846	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:43656846C>T	ENST00000264663.5	+	16	2606	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	NNT_ENST00000512996.2_Silent_p.F664F|NNT_ENST00000344920.4_Silent_p.F795F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	795					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TAATCCCATTCATGGTGGACC	0.498000													10	144					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128661	147128661	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:147128661G>T	ENST00000282928.4	+	1	1491	c.762G>T	c.(760-762)acG>acT	p.T254T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	254					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCTAGTTACGCACGTCACCG	0.557000													5	78					8.12818e-05	9.23161e-05	1	1	0
ERO1LB	56605	broad.mit.edu	37	1	236399088	236399088	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:236399088C>A	ENST00000354619.5	-	8	875		c.e8+1			NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)						electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GAAAAACCTACCTCGGCTAGG	0.294000													27	29					1.1423e-28	2.11214e-28	1	1	0
GPR45	11250	broad.mit.edu	37	2	105858977	105858977	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:105858977C>T	ENST00000258456.1	+	1	778	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ATCCTCAACACGGTCCGCAAG	0.677000													7	32					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183975374	183975374	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:183975374G>T	ENST00000402825.3	+	2	310	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	ECE2_ENST00000324557.4_Missense_Mutation_p.V104L|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	104	Methyltransferase-like 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)			CCATGCCCATGTGCCGCAGCT	0.602000													18	45					5.35267e-07	6.70075e-07	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059502	248059502	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248059502G>T	ENST00000537741.1	+	3	871	c.614G>T	c.(613-615)gGt>gTt	p.G205V	OR2W3_ENST00000360358.3_Missense_Mutation_p.G205V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	205					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)			CTGGCGGTGGGTGTTGTGCTG	0.577000													23	270					1.66031e-10	2.36986e-10	1	1	0
CD1E	913	broad.mit.edu	37	1	158325717	158325717	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:158325717G>A	ENST00000444681.2	+	3	722	c.429G>A	c.(427-429)gtG>gtA	p.V143V	CD1E_ENST00000368165.3_Silent_p.V152V|CD1E_ENST00000368155.3_Silent_p.V152V|CD1E_ENST00000452291.2_Silent_p.V53V|CD1E_ENST00000368167.3_Silent_p.V242V|CD1E_ENST00000368154.1_Silent_p.V53V|CD1E_ENST00000368157.1_Silent_p.V53V|CD1E_ENST00000368161.3_Silent_p.V242V|CD1E_ENST00000368166.3_Silent_p.V53V|CD1E_ENST00000434258.1_Silent_p.V240V|CD1E_ENST00000368164.3_Silent_p.V53V|CD1E_ENST00000368160.3_Silent_p.V242V|CD1E_ENST00000368163.3_Silent_p.V242V|CD1E_ENST00000368156.1_Silent_p.V152V	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	242					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCGTGTGGGTGATGTGGATGC	0.627000													15	182					0	0	1	0	0
FAU	2197	broad.mit.edu	37	11	64888175	64888175	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:64888175T>A	ENST00000529639.1	-	5	771	c.380A>T	c.(379-381)aAg>aTg	p.K127M	FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_Missense_Mutation_p.K127M|FAU_ENST00000531743.1_Missense_Mutation_p.K127M|FAU_ENST00000279259.3_3'UTR|FAU_ENST00000525297.1_Missense_Mutation_p.K92M	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						ATTGGGGCCCTTCTTCTTGCC	0.463000													24	36					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138576768	138576768	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:138576768C>G	ENST00000251691.4	+	10	1132	c.966C>G	c.(964-966)atC>atG	p.I322M		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	322					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)		CTCGGACTATCTATTACATCG	0.652000													6	53					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577735	90577735	+	RNA	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:90577735G>T	ENST00000551025.1	+	0	6163							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)		TGGAAAGGAAGCTGATGAAGG	0.393000													18	118					1.96292e-10	2.78768e-10	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123814296	123814296	+	Missense_Mutation	SNP	C	C	A	rs148288062		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:123814296C>A	ENST00000321252.2	-	1	284	c.250G>T	c.(250-252)Gtc>Ttc	p.V84F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	84					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)		GTGAGGATGACGACAAGCATC	0.502000													9	62					3.07112e-06	3.73933e-06	1	1	0
NAA15	80155	broad.mit.edu	37	4	140299929	140299929	+	Silent	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:140299929A>G	ENST00000296543.5	+	17	2399	c.2076A>G	c.(2074-2076)ctA>ctG	p.L692L	NAA15_ENST00000398947.1_Silent_p.L692L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	692					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						TTTTGATGCTACAATCAGTAA	0.343000													9	39					0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139257718	139257718	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:139257718G>A	ENST00000483943.2	-	2	343	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	RBP1_ENST00000492918.1_Missense_Mutation_p.R115C|RBP1_ENST00000232219.2_Missense_Mutation_p.R115C|RP11-319G6.1_ENST00000515247.1_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	53						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CTCAGCGTGCGGATGATCATA	0.522000													10	92					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29909229	29909229	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:29909229A>T	ENST00000308713.5	-	2	683	c.156T>A	c.(154-156)gcT>gcA	p.A52A	SEZ6L2_ENST00000537485.1_Intron|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000346932.5_Silent_p.A52A|SEZ6L2_ENST00000350527.3_Silent_p.A52A	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	52						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGCAGTTCAGCCAGGGCCT	0.637000													15	48					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187626597	187626597	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:187626597G>T	ENST00000304698.5	+	8	1731	c.1528G>T	c.(1528-1530)Gat>Tat	p.D510Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	510						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGATGCTCAAGATGAAAAGAG	0.423000													4	14					0.00909568	0.00966774	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18705890	18705890	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:18705890G>T	ENST00000406451.3	+	12	1663	c.1513G>T	c.(1513-1515)Gca>Tca	p.A505S	HDAC9_ENST00000441542.2_Missense_Mutation_p.A508S|HDAC9_ENST00000428307.2_Missense_Mutation_p.A461S|HDAC9_ENST00000406072.1_Missense_Mutation_p.A492S|HDAC9_ENST00000432645.2_Missense_Mutation_p.A505S|HDAC9_ENST00000405010.3_Missense_Mutation_p.A505S|HDAC9_ENST00000401921.1_Missense_Mutation_p.A464S|HDAC9_ENST00000524023.1_Missense_Mutation_p.A428S|HDAC9_ENST00000456174.2_Missense_Mutation_p.A477S|HDAC9_ENST00000417496.2_Missense_Mutation_p.A503S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	505					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTTGAGGAAGCAGAGGAAGA	0.512000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	102					1.1362e-29	2.11473e-29	1	1	0
GPT2	84706	broad.mit.edu	37	16	46958355	46958355	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:46958355C>A	ENST00000440783.2	+	10	1632	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	GPT2_ENST00000340124.4_Missense_Mutation_p.L423M	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	423					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACGGAAGACCTGTTTAACCA	0.517000													15	62					8.60227e-14	1.35362e-13	1	1	0
PLBD2	196463	broad.mit.edu	37	12	113812710	113812710	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:113812710G>T	ENST00000280800.3	+	5	788	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C	PLBD2_ENST00000545182.2_Missense_Mutation_p.G253C|PLBD2_ENST00000547163.1_3'UTR	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	253					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCTGCTCCCTGGCCAGAGTGA	0.582000													5	65					8.12818e-05	9.23161e-05	1	1	0
ICAM5	7087	broad.mit.edu	37	19	10403321	10403321	+	Missense_Mutation	SNP	C	C	A	rs114980880	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:10403321C>A	ENST00000221980.4	+	5	1058	c.995C>A	c.(994-996)cCc>cAc	p.P332H		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	332					cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CTGAGCGAACCCAGCGTCTCC	0.667000													4	46					1	1	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117093890	117093890	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:117093890G>A	ENST00000355044.3	+	19	3262	c.3136G>A	c.(3136-3138)Ggt>Agt	p.G1046S	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1046	Laminin EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTATGCCAGGTTATTATGG	0.373000													10	60					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24202491	24202491	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:24202491G>T	ENST00000303531.7	+	16	1955	c.1803G>T	c.(1801-1803)cgG>cgT	p.R601R	PRKCB_ENST00000321728.7_Silent_p.R601R	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	601	AGC-kinase C-terminal.				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)	CATTTTTCCGGTATATTGATT	0.463000													13	63					7.93312e-07	9.84359e-07	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105417135	105417135	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:105417135C>T	ENST00000333244.5	-	7	4772	c.4653G>A	c.(4651-4653)gaG>gaA	p.E1551E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1551						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)			CAGCCTGGACCTCCAGGTCAG	0.642000													38	140					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79469073	79469073	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:79469073A>T	ENST00000376718.3	-	2	211	c.88T>A	c.(88-90)Tgt>Agt	p.C30S	PRUNE2_ENST00000376713.3_Missense_Mutation_p.C30S|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	30					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAAGTCACACGATTTAGGC	0.358000													4	45					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391515	61391515	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:61391515G>T	ENST00000370501.3	+	4	1524	c.1153G>T	c.(1153-1155)Gtg>Ttg	p.V385L	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	385						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)			CCTCTGCCCGGTGTGGCGGCG	0.622000													25	118					1.2476e-16	2.10004e-16	1	1	0
SAMD3	154075	broad.mit.edu	37	6	130465927	130465927	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:130465927A>G	ENST00000368134.2	-	14	1909	c.1301T>C	c.(1300-1302)tTg>tCg	p.L434S	SAMD3_ENST00000437477.2_Missense_Mutation_p.L434S|SAMD3_ENST00000439090.2_Missense_Mutation_p.L434S|SAMD3_ENST00000457563.2_Missense_Mutation_p.L458S	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	434										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTAACTTCCAACACAGGTGT	0.383000													4	22					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6751171	6751171	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:6751171G>T	ENST00000230859.6	+	11	1259	c.1130G>T	c.(1129-1131)tGc>tTc	p.C377F		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	377					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACACCGCCCTGCACAACGCCC	0.522000													25	183					1.22384e-17	2.08917e-17	1	1	0
AQR	9716	broad.mit.edu	37	15	35166112	35166112	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:35166112C>A	ENST00000156471.5	-	30	3739	c.3514G>T	c.(3514-3516)Ggc>Tgc	p.G1172C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1172						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACAGTAAGCCAGCATTTGCT	0.408000													3	34					1	1	1	1	0
SLC45A1	50651	broad.mit.edu	37	1	8395557	8395557	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:8395557C>T	ENST00000471889.1	+	6	1889	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R536C|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R502C			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	502					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGCGAGCGCGCGGAGCA	0.642000													4	61					0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763189	20763189	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:20763189C>T	ENST00000382844.1	-	1	730	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	GJB2_ENST00000382848.4_Missense_Mutation_p.V178M			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	178			V -> A (in DFNB1A).		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		AAGCAGTCCACAGTGTTGGGA	0.522000									Keratitis, Ichthyosis and Deafness syndrome				7	39					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062715	194062715	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:194062715C>T	ENST00000323830.3	-	2	806	c.717G>A	c.(715-717)caG>caA	p.Q239Q	CPN2_ENST00000429275.1_Silent_p.Q239Q	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	239					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGCAGAAGAGCTGGGAGAACA	0.597000													8	44					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46053597	46053597	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:46053597A>T	ENST00000295452.4	-	8	1142	c.975T>A	c.(973-975)ccT>ccA	p.P325P		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	325					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAGAAACCTTAGGTAAAGACT	0.358000													6	38					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26812836	26812836	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:26812836T>C	ENST00000541819.2	-	8	997	c.895A>G	c.(895-897)Att>Gtt	p.I299V	GABRB3_ENST00000545868.1_Missense_Mutation_p.I158V|GABRB3_ENST00000311550.5_Missense_Mutation_p.I243V|GABRB3_ENST00000400188.3_Missense_Mutation_p.I172V|GABRB3_ENST00000299267.4_Missense_Mutation_p.I243V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	243					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)	AAGTATCCAATGTTCCTCTTC	0.433000													12	46					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	39003687	39003687	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:39003687C>G	ENST00000357387.3	-	4	263	c.233G>C	c.(232-234)gGc>gCc	p.G78A	RICTOR_ENST00000296782.5_Missense_Mutation_p.G78A	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	78					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATAGTGAAAGCCCAGTTTTTC	0.313000													13	113					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71518724	71518724	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:71518724C>G	ENST00000304743.2	+	24	5018	c.4572C>G	c.(4570-4572)gaC>gaG	p.D1524E	PCNX_ENST00000439984.3_Missense_Mutation_p.D1413E|PCNX_ENST00000238570.5_Missense_Mutation_p.D1524E	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1524						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)		GGGAGAGAGACTATAAGTGAG	0.363000													14	39					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12016657	12016657	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:12016657G>T	ENST00000415385.3	+	8	879	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	MAP2K4_ENST00000353533.5_Missense_Mutation_p.G265C			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	265	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.?(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)		AAGAGATGCTGGCTGTAGGCC	0.463000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								11	49					1.61879e-10	2.32632e-10	1	1	0
ZNF267	10308	broad.mit.edu	37	16	31885291	31885291	+	Splice_Site	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:31885291G>A	ENST00000300870.10	+	1	212		c.e1+1		ZNF267_ENST00000394846.3_Splice_Site	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267						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						CTGGGAAATGGTGAGTGTGCG	0.647000													14	86					0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994205	208994205	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:208994205C>A	ENST00000282141.3	-	2	249	c.212G>T	c.(211-213)gGc>gTc	p.G71V		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	71	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCGCTGAGGCCCATCCATTG	0.552000													23	90					4.26978e-12	6.4313e-12	1	1	0
ZNF730	100129543	broad.mit.edu	37	19	23329123	23329123	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:23329123G>T	ENST00000597761.2	+	4	1476	c.1277G>T	c.(1276-1278)tGt>tTt	p.C426F		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CCCTACAAATGTGAAGAATGT	0.388000													7	65					0.000274275	0.000306564	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616713	248616713	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248616713G>T	ENST00000342927.3	+	1	637	c.615G>T	c.(613-615)gtG>gtT	p.V205V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTGCGTGCTGATGCTGC	0.532000													30	67					2.31418e-15	3.82678e-15	1	1	0
HMSD	284293	broad.mit.edu	37	18	61620700	61620700	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:61620700C>T	ENST00000408945.3	+	2	213	c.11C>T	c.(10-12)tCa>tTa	p.S4L	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	4						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ATGAGCATATCATCAGCCTTG	0.418000													5	22					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467274	56467274	+	Missense_Mutation	SNP	G	G	T	rs75924528	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:56467274G>T	ENST00000291971.3	+	3	1921	c.1850G>T	c.(1849-1851)cGg>cTg	p.R617L	NLRP8_ENST00000590542.1_Missense_Mutation_p.R617L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	617						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)		CATGAAATCCGGGAGGAAGCC	0.448000													12	66					4.36969e-10	6.14374e-10	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179504064	179504064	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:179504064T>A	ENST00000367618.3	+	25	3385	c.2998T>A	c.(2998-3000)Tca>Aca	p.S1000T		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	1000	Glu-rich.									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						agaagTCAGGTCAGCAGAAAA	0.343000													5	49					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42727683	42727683	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:42727683T>A	ENST00000263805.4	-	11	5037	c.4711A>T	c.(4711-4713)Acc>Tcc	p.T1571S	ZNF106_ENST00000565611.1_Missense_Mutation_p.T756S|ZNF106_ENST00000565380.1_Missense_Mutation_p.T799S	NM_022473.1	NP_071918.1			zinc finger protein 106																		ACTTTGGAGGTATGACCCTCA	0.423000													21	70					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850617	216850617	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:216850617C>A	ENST00000391890.3	-	4	721	c.204G>T	c.(202-204)ctG>ctT	p.L68L	ESRRG_ENST00000493603.1_Silent_p.L68L|ESRRG_ENST00000366940.2_Silent_p.L68L|ESRRG_ENST00000366937.1_Silent_p.L96L|ESRRG_ENST00000361525.3_Silent_p.L68L|ESRRG_ENST00000493748.1_Silent_p.L68L|ESRRG_ENST00000366938.2_Silent_p.L68L|ESRRG_ENST00000361395.2_Silent_p.L68L|ESRRG_ENST00000359162.2_Silent_p.L68L|ESRRG_ENST00000408911.3_Silent_p.L91L|ESRRG_ENST00000463665.1_Silent_p.L68L|ESRRG_ENST00000360012.3_Silent_p.L68L|ESRRG_ENST00000487276.1_Silent_p.L68L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	91					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)	CACTACCTCCCAGGATAGGAG	0.532000													20	132					7.87624e-14	1.244e-13	1	1	0
SLC9B1	150159	broad.mit.edu	37	4	103822453	103822453	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:103822453C>A	ENST00000296422.7	-	12	1510	c.1369G>T	c.(1369-1371)Gtc>Ttc	p.V457F	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	457						integral to membrane	solute:hydrogen antiporter activity										GGTGCGGAGACTCTTGCTGTT	0.418000													5	193					0.0215528	0.0225956	1	1	0
INO80D	54891	broad.mit.edu	37	2	206869966	206869966	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:206869966C>G	ENST00000403263.1	-	11	2614	c.2210G>C	c.(2209-2211)cGt>cCt	p.R737P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	737					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGTAGCAGAACGGAGCAGGTT	0.527000													16	47					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96369870	96369870	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:96369870G>A	ENST00000324765.8	+	21	2842	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	DIAPH2_ENST00000373054.4_Missense_Mutation_p.R828K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R832K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R832K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R832K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	832	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			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						AGCTTTAACAGACTTTTAGAG	0.368000													13	11					0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449068	16449068	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:16449068C>A	ENST00000252835.4	-	1	737	c.737G>T	c.(736-738)aGc>aTc	p.S246I		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TCTCCCAGTGCTTGAAGGCAT	0.428000													36	128					1.15181e-12	1.77282e-12	1	1	0
ARHGEF25	115557	broad.mit.edu	37	12	58008550	58008550	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:58008550C>A	ENST00000286494.4	+	9	1355	c.895C>A	c.(895-897)Cag>Aag	p.Q299K	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.Q338K|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	299	DH.|Important for binding to Rho GTPases.				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						CATGAAATACCAGCTGCTGCT	0.612000													3	19					0.004672	0.0050291	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151815612	151815612	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:151815612G>C	ENST00000370306.2	+	4	530	c.510G>C	c.(508-510)acG>acC	p.T170T		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	170						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGGAACGGTGCGGTACG	0.522000													14	20					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61957465	61957465	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:61957465G>T	ENST00000422202.1	+	29	3509	c.3441G>T	c.(3439-3441)gaG>gaT	p.E1147D	COL20A1_ENST00000326996.6_Missense_Mutation_p.E1172D|COL20A1_ENST00000435874.1_Missense_Mutation_p.E1147D|COL20A1_ENST00000358894.6_Missense_Mutation_p.E1140D			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1140	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAGGCCTGGAGGGAACTGCTG	0.667000													11	71					0.000308642	0.000344067	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108603897	108603897	+	Splice_Site	SNP	G	G	T	rs34325107		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:108603897G>T	ENST00000332082.4	+	5	1315		c.e5-1		WSCD2_ENST00000261400.3_Splice_Site|WSCD2_ENST00000547525.1_Splice_Site|WSCD2_ENST00000549903.1_Splice_Site			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2							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						GCCTCCCCCAGGGGTTACCTG	0.652000													3	45					1	1	1	1	0
HRNR	388697	broad.mit.edu	37	1	152191695	152191695	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152191695A>T	ENST00000368801.2	-	3	2485	c.2410T>A	c.(2410-2412)Tgt>Agt	p.C804S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	804					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)			TAATGGCCACAGCTGGAAGAA	0.582000													14	67					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76481933	76481933	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:76481933G>T	ENST00000307431.8	+	6	945	c.560G>T	c.(559-561)gGa>gTa	p.G187V	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G163V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G191V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G187V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	188					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						GATCTTGATGGAAAAAGTTCC	0.313000													6	22					0.0381472	0.0398448	1	1	0
MUC7	4589	broad.mit.edu	37	4	71346837	71346837	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:71346837C>T	ENST00000413702.1	+	4	664	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	MUC7_ENST00000456088.1_Missense_Mutation_p.L126F|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.L126F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	126	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AATTACTACCCTTCCAAATGT	0.418000													24	101					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393668	49393668	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:49393668T>A	ENST00000374201.3	-	18	2589	c.2287A>T	c.(2287-2289)Aag>Tag	p.K763*	FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.K731*|FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.K738*	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	763					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATAAAGCTCTTCCTCCTATTA	0.463000													13	61					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210761424	210761424	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:210761424C>T	ENST00000367010.1	+	10	1453	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	HHAT_ENST00000391905.3_Missense_Mutation_p.P409L|HHAT_ENST00000541565.1_Missense_Mutation_p.P272L|HHAT_ENST00000537898.1_Missense_Mutation_p.P344L|HHAT_ENST00000413764.2_Missense_Mutation_p.P409L|HHAT_ENST00000545154.1_Missense_Mutation_p.P410L|HHAT_ENST00000367009.1_Missense_Mutation_p.P99L|HHAT_ENST00000545781.1_Missense_Mutation_p.P346L|HHAT_ENST00000308852.6_Missense_Mutation_p.P364L|HHAT_ENST00000261458.3_Missense_Mutation_p.P409L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	409					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTGGAGACTCCCTGCATCCAG	0.577000													12	12					0	0	1	0	0
TIAF1	9220	broad.mit.edu	37	17	27401169	27401169	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:27401169C>A	ENST00000359450.6	-	1	4706	c.49G>T	c.(49-51)Gct>Tct	p.A17S	MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000527372.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.A17S|MYO18A_ENST00000354329.4_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	17					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCGTCTCCAGCTGCACAGAGA	0.597000													9	62					0.000442599	0.000491454	1	1	0
MIR876	100126310	broad.mit.edu	37	9	28863686	28863686	+	RNA	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:28863686A>G	ENST00000401147.1	-	0	18					NR_030597.1																						TGATTCACAAAGAAATCCACA	0.408000													5	43					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70978595	70978595	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:70978595C>A	ENST00000276594.2	-	5	1259	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	353	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GATCTCTTTGCAGCTCTCATA	0.502000													13	41					7.93312e-07	9.84359e-07	1	1	0
ACACB	32	broad.mit.edu	37	12	109654631	109654631	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:109654631G>T	ENST00000338432.7	+	24	3589	c.3470G>T	c.(3469-3471)aGg>aTg	p.R1157M	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.R1157M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1157					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ATAAACCTCAGGGAGCAGTTC	0.557000													12	92					1.61879e-10	2.32632e-10	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33549360	33549360	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:33549360G>T	ENST00000504830.1	-	21	4589	c.4254C>A	c.(4252-4254)agC>agA	p.S1418R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1333R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1418	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGGGTTACAGCTCATGCTCA	0.607000										HNSCC(64;0.19)			12	97					0.000219431	0.000246241	1	1	0
CCDC11	220136	broad.mit.edu	37	18	47769339	47769339	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:47769339C>G	ENST00000398545.4	-	6	1261	c.1144G>C	c.(1144-1146)Gaa>Caa	p.E382Q		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	382										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCCTCCTTTTCAAGTCTCAGC	0.403000													4	158					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586231	20586231	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:20586231C>T	ENST00000315543.4	+	1	666	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	194					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)		CCTGTATAGACATATATTTTG	0.408000													14	102					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647286	34647286	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:34647286C>A	ENST00000537011.1	+	7	1809	c.1427C>A	c.(1426-1428)cCc>cAc	p.P476H	NUTM1_ENST00000438749.3_Missense_Mutation_p.P466H|NUTM1_ENST00000333756.4_Missense_Mutation_p.P448H					NUT midline carcinoma, family member 1																		CAGAGAGATCCCTTGGCCTTA	0.453000													11	62					4.68919e-08	6.09595e-08	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48619155	48619155	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:48619155C>A	ENST00000328333.8	-	48	4813	c.4706G>T	c.(4705-4707)gGa>gTa	p.G1569V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1569V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1569	Triple-helical region.				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)		CCCTTGGACTCCGGTAGCTCC	0.592000													28	115					1.16021e-09	1.60717e-09	1	1	0
NEUROD4	58158	broad.mit.edu	37	12	55420403	55420403	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:55420403G>A	ENST00000242994.3	+	2	558	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	60	Asp/Glu-rich (acidic).				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						aagaagaagaggaagaagaTG	0.473000													3	16					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528164	7528164	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:7528164C>A	ENST00000313599.3	-	11	2771	c.2714G>T	c.(2713-2715)gGc>gTc	p.G905V	CD163L1_ENST00000416109.2_Missense_Mutation_p.G915V|CD163L1_ENST00000396630.1_Missense_Mutation_p.G905V|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	905	SRCR 9.					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						CTGGGATTTGCCATTCACAAG	0.532000													7	35					1.06961e-07	1.37778e-07	1	1	0
OR5M10	390167	broad.mit.edu	37	11	56345137	56345137	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:56345137G>A	ENST00000526812.2	-	1	126	c.61C>T	c.(61-63)Cca>Tca	p.P21S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCTAGCACTGGGTCGTCTGTC	0.458000													25	69					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169230097	169230097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:169230097G>T	ENST00000256935.8	+	26	2670	c.2590G>T	c.(2590-2592)Gag>Tag	p.E864*	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E356*|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	864					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCACCAAAGAGCTGAAGGA	0.438000													18	43					2.94398e-08	3.87487e-08	1	1	0
ACTL6A	86	broad.mit.edu	37	3	179292203	179292203	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:179292203G>C	ENST00000429709.2	+	5	637	c.424G>C	c.(424-426)Gaa>Caa	p.E142Q	ACTL6A_ENST00000392662.1_Missense_Mutation_p.E100Q|ACTL6A_ENST00000450518.2_Missense_Mutation_p.E100Q	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	142					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)			GTTAATGTTTGAACACTACAA	0.358000													19	121					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220247885	220247885	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:220247885C>A	ENST00000273075.4	-	10	1124	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	DNPEP_ENST00000523282.1_Missense_Mutation_p.V310L|DNPEP_ENST00000373972.1_Missense_Mutation_p.V227L	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	292					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACCATGCGCACGTGAGGCTCT	0.572000													20	75					1.42536e-11	2.10933e-11	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155330133	155330133	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:155330133T>A	ENST00000368346.3	-	13	7408	c.6769A>T	c.(6769-6771)Act>Tct	p.T2257S	ASH1L_ENST00000392403.3_Missense_Mutation_p.T2252S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2257	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TAATCATAAGTGAGTTCAGTC	0.368000													7	122					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46318101	46318101	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:46318101C>A	ENST00000221538.3	-	1	476	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.A112S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	112						intracellular		p.A112P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTGAGCTCGGCGACCTGCATC	0.617000													7	59					0.307466	0.310776	1	1	0
PNKD	25953	broad.mit.edu	37	2	219136165	219136165	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:219136165C>G	ENST00000273077.4	+	2	180	c.129C>G	c.(127-129)agC>agG	p.S43R	PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Missense_Mutation_p.S43R	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	43						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGCAAAGCCACAGCTCCC	0.557000													4	99					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156222835	156222835	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:156222835T>A	ENST00000361813.5	-	18	2681	c.2537A>T	c.(2536-2538)cAg>cTg	p.Q846L	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	846					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)					GGCCTTGGGCTGCTGCAGGCT	0.672000													3	19					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47556894	47556894	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:47556894C>A	ENST00000397748.1	-	14	1656	c.1613G>T	c.(1612-1614)cGg>cTg	p.R538L	FTCD_ENST00000355384.2_Intron|FTCD_ENST00000397746.3_3'UTR|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000359679.2_Missense_Mutation_p.R538L|FTCD_ENST00000291670.5_Intron			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	45	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGAGGCCTCCCGCACCGTCAC	0.667000													4	23					1	1	1	1	0
ZNF154	7710	broad.mit.edu	37	19	58213959	58213959	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:58213959T>A	ENST00000512439.2	-	3	554	c.358A>T	c.(358-360)Agc>Tgc	p.S120C	AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.S120C|AC003006.7_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		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;0.0257)		CCACCGTCGCTTTTGCTATTT	0.502000													30	106					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122221323	122221323	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:122221323G>A	ENST00000334010.7	-	7	1666	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	CADPS2_ENST00000449022.2_Silent_p.F415F|CADPS2_ENST00000313070.7_Silent_p.F415F|CADPS2_ENST00000412584.2_Silent_p.F415F|CADPS2_ENST00000476131.1_5'UTR	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	415	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GGGTGGTGGTGAAATCTCCTT	0.443000													17	118					0	0	1	0	0
STX2	2054	broad.mit.edu	37	12	131280644	131280644	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:131280644C>A	ENST00000392373.2	-	10	902	c.808G>T	c.(808-810)Gtg>Ttg	p.V270L	STX2_ENST00000261653.6_Intron	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	270					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		ACCACTGACACAGCAATAATT	0.388000													5	54					0.00307968	0.0033406	1	1	0
FGB	2244	broad.mit.edu	37	4	155490699	155490699	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:155490699A>T	ENST00000302068.4	+	7	1055	c.992A>T	c.(991-993)cAg>cTg	p.Q331L	FGB_ENST00000509493.1_Missense_Mutation_p.Q112L|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	331	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)	AAAATTAGCCAGCTTACCAGG	0.353000													14	60					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35835217	35835217	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:35835217G>A	ENST00000187397.4	+	20	2662	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	ARPP21_ENST00000458225.1_Missense_Mutation_p.G737R|ARPP21_ENST00000417925.1_Missense_Mutation_p.G737R|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.G717R|ARPP21_ENST00000444190.1_Missense_Mutation_p.G717R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	736	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGGTTCTCAAGGACTGCCCCA	0.473000													6	57					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654794	28654794	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:28654794T>A	ENST00000280904.6	-	12	2186	c.1743A>T	c.(1741-1743)acA>acT	p.T581T	DSC2_ENST00000251081.6_Silent_p.T581T	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	581	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGATGATCACTGTCTTTTTAG	0.438000													10	20					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19147950	19147950	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:19147950T>A	ENST00000269214.5	-	5	2573	c.1636A>T	c.(1636-1638)Aaa>Taa	p.K546*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	546					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CCTGGAAATTTATTCTCTCCT	0.348000													24	39					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10851880	10851880	+	Missense_Mutation	SNP	C	C	T	rs148166867		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:10851880C>T	ENST00000283027.5	+	7	621	c.602C>T	c.(601-603)cCc>cTc	p.P201L	NUBP1_ENST00000433392.2_Missense_Mutation_p.P190L|NUBP1_ENST00000571790.1_3'UTR	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	201					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	p.P201L(1)		large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						ATCACCACTCCCCAGGTGAGC	0.577000													16	64					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698592	111698592	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:111698592C>T	ENST00000340433.2	+	1	866	c.636C>T	c.(634-636)tgC>tgT	p.C212C		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	212							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCACTCAGTGCATTCAGTTGG	0.483000													37	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404688	179404688	+	Missense_Mutation	SNP	G	G	T	rs74984787		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179404688G>T	ENST00000589042.1	-	352	98328	c.98104C>A	c.(98104-98106)Cct>Act	p.P32702T	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P31061T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23637T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23762T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30134T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23829T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31061	Ig-like 144.						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)			TCATAATCAGGATATTCTGGA	0.373000													6	36					0.00116845	0.00128059	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26812798	26812798	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:26812798T>A	ENST00000541819.2	-	8	1035	c.933A>T	c.(931-933)atA>atT	p.I311I	GABRB3_ENST00000545868.1_Silent_p.I170I|GABRB3_ENST00000311550.5_Silent_p.I255I|GABRB3_ENST00000400188.3_Silent_p.I184I|GABRB3_ENST00000299267.4_Silent_p.I255I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	255					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)	TCGTTATCAGTATAGAGGGCA	0.418000													10	51					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299909	103299909	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:103299909G>T	ENST00000233969.2	+	4	1336	c.1194G>T	c.(1192-1194)ctG>ctT	p.L398L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	398						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCTTCACCCTGGCCTTCTGCC	0.502000													10	35					1.58986e-06	1.95267e-06	1	1	0
LMX1A	4009	broad.mit.edu	37	1	165322350	165322350	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:165322350G>T	ENST00000342310.3	-	3	608	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	LMX1A_ENST00000367893.4_Silent_p.R76R|LMX1A_ENST00000294816.2_Silent_p.R76R	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	76	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TTCTTGTCCCGGTAGAAGCAG	0.602000													14	121					6.72482e-11	9.83127e-11	1	1	0
OR5D18	219438	broad.mit.edu	37	11	55587957	55587957	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55587957C>T	ENST00000333976.4	+	1	872	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	284					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)				TGGTGATCCCCATGTTGAATC	0.468000													8	46					0	0	1	0	0
UBE2S	27338	broad.mit.edu	37	19	55918297	55918297	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:55918297T>A	ENST00000264552.9	-	2	224	c.37A>T	c.(37-39)Atc>Ttc	p.I13F	UBE2S_ENST00000589978.1_Missense_Mutation_p.I13F	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	13					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		ACCAGGCGGATGATGTGCGGG	0.602000													12	75					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21145668	21145668	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:21145668C>T	ENST00000261383.3	-	7	993	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	DNAH3_ENST00000415178.1_Missense_Mutation_p.V332I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	332	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)		CTCCTGTAGACACTGTGCCAG	0.542000													28	143					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64958875	64958875	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:64958875T>A	ENST00000360270.5	+	12	1560	c.1388T>A	c.(1387-1389)cTg>cAg	p.L463Q	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	463					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CGTGCTGAGCTGAAGACTGCC	0.537000			T	ALK	ALCL								4	27					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466530	10466530	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:10466530A>G	ENST00000382483.3	-	4	5301	c.5078T>C	c.(5077-5079)cTg>cCg	p.L1693P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1693					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCCTCTGCAGAATCTGCTG	0.607000													33	117					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009656	5009656	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:5009656C>T	ENST00000250076.3	-	5	1452	c.798G>A	c.(796-798)ctG>ctA	p.L266L	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.L257L	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	239					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCTCTGCTGCAGTTCTAAGG	0.488000													16	42					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120966774	120966774	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:120966774C>A	ENST00000288532.6	-	1	211	c.171G>T	c.(169-171)gaG>gaT	p.E57D	COQ5_ENST00000445328.2_Missense_Mutation_p.E57D	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	57					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGACACAGTCTCAAACCCAA	0.602000													30	153					2.51541e-25	4.6007e-25	1	1	0
FAM153B	202134	broad.mit.edu	37	5	175530283	175530283	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:175530283G>T	ENST00000253490.4	+	13	775	c.718G>T	c.(718-720)Gac>Tac	p.D240Y	FAM153B_ENST00000515817.1_Missense_Mutation_p.D163Y|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Missense_Mutation_p.D163Y			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	240										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	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;0.000183)	Kidney(146;0.0965)		CGAGGAGGAGGACCCAGAGGA	0.453000													24	245					3.73148e-12	5.67104e-12	1	1	0
RGS18	64407	broad.mit.edu	37	1	192153519	192153519	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:192153519T>A	ENST00000367460.3	+	5	724	c.543T>A	c.(541-543)taT>taA	p.Y181*		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	181	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGAGTGTATCAGCTCATGG	0.398000													14	106					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014540	127014540	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:127014540G>C	ENST00000393313.1	-	5	1441	c.850C>G	c.(850-852)Cca>Gca	p.P284A	ZNF800_ENST00000393312.1_Missense_Mutation_p.P284A|ZNF800_ENST00000265827.3_Missense_Mutation_p.P284A			Q2TB10	ZN800_HUMAN	zinc finger protein 800	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTACTTAATGGAACTAGAACA	0.358000													5	85					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42373362	42373362	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:42373362G>T	ENST00000298119.4	+	6	3333	c.2142_splice	c.e6-1	p.R715_splice	LRFN5_ENST00000554171.1_3'UTR|LRFN5_ENST00000554120.1_Splice_Site_p.G463_splice	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	715						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		tcatttcAGAGGCTGGAGTTA	0.313000										HNSCC(30;0.082)			8	18					3.09899e-07	3.891e-07	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	69407230	69407230	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:69407230C>A	ENST00000433211.1	-	2	216	c.42G>T	c.(40-42)caG>caT	p.Q14H	CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q14H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q14H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	14					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTGCAGATCCTGAGGATCGA	0.388000													25	81					2.81731e-10	3.99435e-10	1	1	0
KIF14	9928	broad.mit.edu	37	1	200522757	200522757	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:200522757T>A	ENST00000367350.4	-	30	5144	c.4706A>T	c.(4705-4707)cAg>cTg	p.Q1569L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1569	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCTAGTTCCTGGTGGACAAT	0.398000													35	37					0	0	1	0	0
AUH	549	broad.mit.edu	37	9	93979560	93979560	+	Splice_Site	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:93979560T>C	ENST00000375731.4	-	8	916	c.894_splice	c.e8+1	p.E298_splice	AUH_ENST00000303617.5_Splice_Site_p.E269_splice	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	298					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GGAACCTACCTCCATCCCTTG	0.303000													16	34					0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57850300	57850300	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:57850300A>T	ENST00000266646.2	+	2	938	c.722A>T	c.(721-723)gAg>gTg	p.E241V	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	241					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCCACCTGTGAGCCTGCGACC	0.607000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	104					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635516	83635516	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:83635516C>A	ENST00000404547.1	+	1	420	c.420C>A	c.(418-420)ccC>ccA	p.P140P	NRG3_ENST00000372141.2_Silent_p.P140P			P56975	NRG3_HUMAN	neuregulin 3	140	Ser/Thr-rich.				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)		ccgccaccccctccgccGGGG	0.697000													11	13					6.40141e-05	7.35945e-05	1	1	0
NUDT6	11162	broad.mit.edu	37	4	123814181	123814181	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:123814181G>A	ENST00000304430.5	-	5	786	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000339154.2_Silent_p.L82L|NUDT6_ENST00000502270.1_Silent_p.L82L	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	251	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCAGGTCATTGAGATCCATCC	0.433000													6	92					0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40715901	40715901	+	RNA	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:40715901G>T	ENST00000604146.1	+	0	240					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGCTCAGAGGCTGTCCCGG	0.557000													3	18					0.115264	0.118489	1	1	0
HERC2P2	400322	broad.mit.edu	37	15	23300079	23300079	+	RNA	SNP	T	T	G	rs417713	by1000genomes	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:23300079T>G	ENST00000560464.1	-	0	4208																											GTGCTGCACGTTGACAGGCGT	0.607000													3	34					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93723909	93723909	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:93723909A>G	ENST00000265990.6	+	13	1788	c.1480A>G	c.(1480-1482)Atg>Gtg	p.M494V	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	494					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAATAGTATTATGACTCTCCT	0.333000													19	66					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847796	49847796	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:49847796C>A	ENST00000333486.3	-	13	1691	c.1533G>T	c.(1531-1533)ccG>ccT	p.P511P		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	511	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTAGGTGAGCGGGATCACCT	0.597000													26	116					2.24059e-21	4.00275e-21	1	1	0
RYR1	6261	broad.mit.edu	37	19	39003104	39003104	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:39003104G>T	ENST00000355481.4	+	63	9584	c.9453G>T	c.(9451-9453)caG>caT	p.Q3151H	RYR1_ENST00000360985.3_Missense_Mutation_p.Q3151H|RYR1_ENST00000359596.3_Missense_Mutation_p.Q3151H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3151					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)	CCCAGCACCAGTTCGGAGATG	0.642000													19	78					7.45023e-12	1.11227e-11	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70535441	70535441	+	Splice_Site	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:70535441T>G	ENST00000377844.4	-	3	1575	c.817_splice	c.e3+1	p.T272_splice	KLHL1_ENST00000545028.1_Splice_Site_p.T79_splice	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	272	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGCCATACCTGTATATGCAA	0.343000													9	49					0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43940636	43940636	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:43940636G>T	ENST00000302708.4	+	9	1129	c.718G>T	c.(718-720)Gat>Tat	p.D240Y	ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	240	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GATACCCTTGGATCATGGGAC	0.423000								Direct reversal of damage					35	108					4.67007e-22	8.41408e-22	1	1	0
TRIM37	4591	broad.mit.edu	37	17	57105837	57105837	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:57105837C>A	ENST00000376149.3	-	19	2639	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	TRIM37_ENST00000393065.2_Missense_Mutation_p.L698F|TRIM37_ENST00000393066.3_Missense_Mutation_p.L732F|TRIM37_ENST00000262294.7_Missense_Mutation_p.L732F			O94972	TRI37_HUMAN	tripartite motif containing 37	732						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)					CCAAATCCTGCAATCTGCCAG	0.453000									Mulibrey Nanism				12	46					1.52009e-12	2.32695e-12	1	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72662628	72662628	+	RNA	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:72662628C>A	ENST00000425256.1	-	0	988					NR_002164.1																						AGCTCAAGCCCTGGAAGCGGC	0.443000													27	218					1.02591e-13	1.60535e-13	1	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816690	43816690	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:43816690C>A	ENST00000377564.3	+	6	1189	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.L266M	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	266	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCTGGGCAGCCTGCTGGATGA	0.502000													6	23					7.48243e-07	9.31171e-07	1	1	0
HECW2	57520	broad.mit.edu	37	2	197184311	197184311	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:197184311T>A	ENST00000260983.2	-	9	1485	c.1303A>T	c.(1303-1305)Acc>Tcc	p.T435S	HECW2_ENST00000409111.1_Missense_Mutation_p.T79S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	435					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						TCAGAGCAGGTCGCTGTCCCC	0.502000													11	44					0	0	1	0	0
NCF1B	654816	broad.mit.edu	37	7	72640002	72640002	+	RNA	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:72640002T>A	ENST00000423083.1	+	0	158					NR_003186.1																						CTCATGAGCCTGCCCACCAAG	0.597000													4	26					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033738	30033738	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:30033738C>A	ENST00000328224.6	-	2	1721	c.488G>T	c.(487-489)gGt>gTt	p.G163V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	163	Poly-Gly.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GTAGCCGCCACCGCCCTCATC	0.517000													8	77					0.000978159	0.00108045	1	1	0
KSR1	8844	broad.mit.edu	37	17	25938579	25938579	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:25938579C>T	ENST00000398988.3	+	20	2517	c.2072C>T	c.(2071-2073)gCa>gTa	p.A691V	KSR1_ENST00000509603.2_Missense_Mutation_p.A806V|KSR1_ENST00000582410.1_Missense_Mutation_p.A42V|KSR1_ENST00000268763.6_Missense_Mutation_p.A691V|KSR1_ENST00000319524.6_Missense_Mutation_p.A828V	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	826	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCTGCAGAGGCATCCATCTGG	0.567000													11	36					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21550064	21550064	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:21550064G>A	ENST00000298694.4	+	14	3164	c.3037G>A	c.(3037-3039)Gga>Aga	p.G1013R	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.G1013R			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1013					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGCCCCATGTGGAGAGGACTA	0.687000													3	13					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767966	41767966	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:41767966C>A	ENST00000379483.3	-	1	736	c.428G>T	c.(427-429)cGc>cTc	p.R143L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	143							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)		CGCGTACAGGCGCTGCACATT	0.602000													7	44					0.00621372	0.00664632	1	1	0
LMBRD1	55788	broad.mit.edu	37	6	70423557	70423557	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:70423557C>A	ENST00000370577.3	-	9	1124	c.895G>T	c.(895-897)Ggc>Tgc	p.G299C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.G226C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	299					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						CGCAGAGCGCCACAAAATTTT	0.393000													10	57					9.31168e-06	1.1145e-05	1	1	0
SLC2A12	154091	broad.mit.edu	37	6	134349965	134349965	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:134349965G>A	ENST00000275230.5	-	2	1153	c.998C>T	c.(997-999)cCt>cTt	p.P333L		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	333						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGAGTGGCAGGGATGGTGCT	0.502000													20	69					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322685	45322685	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:45322685G>T	ENST00000391955.1	+	12	1600	c.1556G>T	c.(1555-1557)gGc>gTc	p.G519V	BCAM_ENST00000270233.6_Missense_Mutation_p.G519V			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	519	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCCGCGATGGCATCTCCTGT	0.642000													16	68					4.96729e-08	6.44756e-08	1	1	0
CSPP1	79848	broad.mit.edu	37	8	67986491	67986491	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:67986491G>C	ENST00000262210.5	+	2	143	c.112G>C	c.(112-114)Gct>Cct	p.A38P	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	38						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTGCAAAATGGCTGATAATTT	0.338000													6	60					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44952822	44952822	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:44952822C>A	ENST00000296125.4	+	13	1905	c.1837C>A	c.(1837-1839)Ctg>Atg	p.L613M		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	613					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)	CAAGAATACCCTGGCCATCCC	0.493000													10	116					1.58986e-06	1.95267e-06	1	1	0
KIR3DX1	90011	broad.mit.edu	37	19	55048116	55048116	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:55048116C>A	ENST00000335056.3	+	5	721	c.683C>A	c.(682-684)aCc>aAc	p.T228N	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TCTCTCTCCACCCAGGTGGAC	0.463000											OREG0003665	type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	23					2.0095e-06	2.46091e-06	1	1	0
RYR2	6262	broad.mit.edu	37	1	237947492	237947492	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:237947492G>T	ENST00000366574.2	+	90	12797	c.12480G>T	c.(12478-12480)tgG>tgT	p.W4160C	RYR2_ENST00000542537.1_Missense_Mutation_p.W4144C|RYR2_ENST00000360064.6_Missense_Mutation_p.W4166C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4160					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)			GAACCCAGTGGGAGAAGCCCC	0.498000													13	151					6.72482e-11	9.83127e-11	1	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120348935	120348935	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:120348935G>A	ENST00000397843.2	+	37	3769	c.3603G>A	c.(3601-3603)ggG>ggA	p.G1201G	ARHGEF12_ENST00000356641.3_Silent_p.G1182G|ARHGEF12_ENST00000532993.1_Silent_p.G1098G	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1201					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)		GTACCTCTGGGAAATCAGAGG	0.403000			T	MLL	AML								5	48					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978613	40978613	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:40978613G>A	ENST00000352632.3	+	2	171	c.85G>A	c.(85-87)Gat>Aat	p.D29N	SPTBN4_ENST00000344104.3_Missense_Mutation_p.D29N|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D29N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D29N|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D29N			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	29	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGAGTCCGGATCGGGGCTG	0.677000													3	22					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777708	152777708	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152777708G>A	ENST00000368768.1	-	2	297	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1C_ENST00000607093.1_Missense_Mutation_p.R83C	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	83	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGACCTACGGCGCCTGTGG	0.701000													11	94					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118065453	118065453	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:118065453G>A	ENST00000356554.3	+	13	2535	c.1800G>A	c.(1798-1800)ttG>ttA	p.L600L		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	600					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)		TCAGATATTTGTATCTGCTGT	0.403000													8	70					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348612	150348612	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:150348612C>A	ENST00000218316.3	+	2	626	c.557C>A	c.(556-558)cCt>cAt	p.P186H		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	186					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAACAACCCTGTCTTCACT	0.542000													45	63					2.9001e-28	5.33897e-28	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134360124	134360124	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:134360124A>T	ENST00000357304.4	+	23	5567	c.5512A>T	c.(5512-5514)Agg>Tgg	p.R1838W	PRRC2B_ENST00000458550.1_Missense_Mutation_p.R1144W|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R1144W|PRRC2B_ENST00000372249.1_De_novo_Start_InFrame	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1838							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCACATCCAGAGGGCCATCGG	0.577000													33	160					0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27455202	27455202	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:27455202T>A	ENST00000262244.5	-	2	771	c.347A>T	c.(346-348)cAg>cTg	p.Q116L		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	116							metal ion binding|protein binding										GTTCATGTACTGGGGAGCTGG	0.478000													3	69					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510775	4510775	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:4510775T>G	ENST00000307632.3	+	1	667	c.645T>G	c.(643-645)ttT>ttG	p.F215L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACCTGCTCTTTGTTATCCTGT	0.498000													28	203					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36700173	36700173	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:36700173C>T	ENST00000255448.4	-	2	313	c.102G>A	c.(100-102)acG>acA	p.T34T	DCLK1_ENST00000379892.4_Silent_p.T34T|DCLK1_ENST00000360631.3_Silent_p.T34T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	34					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGGCGCTGTGCGTCGGGCTCG	0.612000													5	89					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516155	78516155	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:78516155G>C	ENST00000397909.2	+	16	4358	c.4185G>C	c.(4183-4185)gaG>gaC	p.E1395D	NAV3_ENST00000228327.6_Missense_Mutation_p.E1395D|NAV3_ENST00000536525.2_Missense_Mutation_p.E1395D|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1395	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCACTCACGAGGTCCAGAGCC	0.552000										HNSCC(70;0.22)			15	79					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777762	152777762	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152777762C>A	ENST00000368768.1	-	2	243	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	LCE1C_ENST00000607093.1_Missense_Mutation_p.G65W	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	65	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCATCCCCCAGAGCTGGAG	0.657000													12	149					4.36969e-10	6.14374e-10	1	1	0
LRRC16B	90668	broad.mit.edu	37	14	24527173	24527173	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:24527173G>T	ENST00000342740.5	+	16	1376	c.1222G>T	c.(1222-1224)Ggt>Tgt	p.G408C	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	408										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)		CCACAGGAAGGGTCGAGAGGC	0.652000											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	109					1.12685e-05	1.34111e-05	1	1	0
NYAP2	57624	broad.mit.edu	37	2	226378343	226378343	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:226378343A>T	ENST00000272907.6	+	3	891	c.478A>T	c.(478-480)Agc>Tgc	p.S160C	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	160																	GACAGTCAGCAGCACTGCAGC	0.532000													6	42					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8465638	8465638	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:8465638C>G	ENST00000381196.4	-	29	4085	c.3542G>C	c.(3541-3543)cGt>cCt	p.R1181P	PTPRD_ENST00000355233.5_Missense_Mutation_p.R770P|PTPRD_ENST00000397606.3_Missense_Mutation_p.R760P|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1168P|PTPRD_ENST00000397611.3_Missense_Mutation_p.R767P|PTPRD_ENST00000397617.3_Missense_Mutation_p.R760P|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1159P|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1181P|PTPRD_ENST00000537002.1_Missense_Mutation_p.R767P|PTPRD_ENST00000486161.1_Missense_Mutation_p.R770P|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1181P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1181		Cleavage (Probable).			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)		TCTCCCATAACGGATGCTTCT	0.403000										TSP Lung(15;0.13)			14	58					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334520	35334520	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:35334520G>T	ENST00000373347.1	-	9	2439	c.2171C>A	c.(2170-2172)aCc>aAc	p.T724N	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T724N			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	724					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GACTGAGTAGGTGGGGGCCCG	0.716000													7	40					1.12685e-05	1.34111e-05	1	1	0
CSRNP2	81566	broad.mit.edu	37	12	51458021	51458021	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:51458021G>A	ENST00000228515.1	-	5	1437	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	380					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GAGCCTGGATGAGAATGGGGG	0.597000													7	90					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26899709	26899709	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:26899709C>T	ENST00000407690.1	-	7	854	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407431.1_Missense_Mutation_p.G191R|TFIP11_ENST00000407148.1_Missense_Mutation_p.G191R|TFIP11_ENST00000405938.1_Missense_Mutation_p.G191R	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	191	G-patch.				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCATAAGCCCCCACAGCACCT	0.468000													9	49					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612228	44612228	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:44612228G>T	ENST00000273320.3	+	6	2055	c.1626G>T	c.(1624-1626)caG>caT	p.Q542H	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.Q542H|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		TTGACCATCAGAGAATCCACA	0.463000													7	74					0.000157383	0.000177082	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196227384	196227384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:196227384C>A	ENST00000367433.5	-	25	3180	c.3079G>T	c.(3079-3081)Gag>Tag	p.E1027*	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.E985*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.E1051*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1051						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAGCAAGCTCTTGTCTTTCT	0.423000													39	44					5.7616e-29	1.06767e-28	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	41					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036130	48036130	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:48036130C>A	ENST00000543600.1	-	1	250	c.211G>T	c.(211-213)Gcc>Tcc	p.A71S	PTCHD4_ENST00000339488.4_Missense_Mutation_p.A88S			Q6ZW05	CF138_HUMAN	patched domain containing 4	88						integral to membrane	hedgehog receptor activity										AGGCTGCTGGCCAGGCTGCGC	0.657000													14	69					4.7546e-09	6.48007e-09	1	1	0
KERA	11081	broad.mit.edu	37	12	91449195	91449195	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:91449195G>A	ENST00000266719.3	-	2	1111	c.864C>T	c.(862-864)caC>caT	p.H288H		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	288					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TATGATCAAGGTGAAGGTGCT	0.373000													5	68					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84488657	84488657	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:84488657G>A	ENST00000286744.5	+	6	682	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R153Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	153						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)			TGGCTTCCACGATATAATGAT	0.522000													5	40					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233305	21233305	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:21233305G>T	ENST00000233242.1	-	26	6562	c.6435C>A	c.(6433-6435)ctC>ctA	p.L2145L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2145	Heparin-binding.				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)	ACTTTTTTGTGAGAGCAGTCA	0.358000													6	12					8.12818e-05	9.23161e-05	1	1	0
PAQR5	54852	broad.mit.edu	37	15	69682101	69682101	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:69682101G>T	ENST00000340965.3	+	6	1162	c.494G>T	c.(493-495)gGc>gTc	p.G165V	PAQR5_ENST00000561153.1_Missense_Mutation_p.G165V|PAQR5_ENST00000395407.2_Missense_Mutation_p.G165V	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	165					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CTCAGCACAGGCCTCTCCTGC	0.582000													16	66					1.45105e-14	2.32223e-14	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187627401	187627401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:187627401G>T	ENST00000304698.5	+	8	2535	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	778						integral to membrane	DNA binding	p.E778K(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCCTGGAGAAGAGTCGCCAGG	0.512000													7	30					8.12818e-05	9.23161e-05	1	1	0
GNA12	2768	broad.mit.edu	37	7	2802288	2802288	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:2802288C>T	ENST00000407653.1	-	1	486	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	GNA12_ENST00000407904.3_Intron|GNA12_ENST00000491117.1_Intron|GNA12_ENST00000544127.1_Intron|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000275364.3_Intron|GNA12_ENST00000396960.3_Missense_Mutation_p.V7I			Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	151					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		AGCGGCAGGACGATGAGAGGA	0.522000													3	26					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774711	47774711	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:47774711G>T	ENST00000376954.1	+	6	1034	c.666G>T	c.(664-666)ggG>ggT	p.G222G	ZNF81_ENST00000338637.7_Silent_p.G222G			P51508	ZNF81_HUMAN	zinc finger protein 81	222						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)				AAACTATTGGGCATGGTCAAG	0.358000													17	29					1.00905e-13	1.5819e-13	1	1	0
ACCS	84680	broad.mit.edu	37	11	44105101	44105101	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:44105101C>G	ENST00000263776.8	+	14	1816	c.1382C>G	c.(1381-1383)tCa>tGa	p.S461*		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	461							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTTGTCTTCTCAGACCAGGTC	0.572000													4	80					0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51325023	51325023	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:51325023C>A	ENST00000301420.2	-	2	186	c.151G>T	c.(151-153)Ggg>Tgg	p.G51W	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	51	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGATGCCCCCACACTGGAAA	0.627000													4	37					0.0215528	0.0225956	1	1	0
CDH10	1008	broad.mit.edu	37	5	24509859	24509859	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:24509859G>T	ENST00000264463.4	-	7	1579	c.1072C>A	c.(1072-1074)Cgt>Agt	p.R358S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	358	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)		TAATAAAAACGGGGATCTACA	0.368000										HNSCC(23;0.051)			26	31					9.90768e-06	1.18416e-05	1	1	0
ITCH	83737	broad.mit.edu	37	20	33068418	33068418	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:33068418G>T	ENST00000374864.4	+	19	2046	c.1833G>T	c.(1831-1833)ggG>ggT	p.G611G	ITCH_ENST00000535650.1_Silent_p.G501G|ITCH_ENST00000262650.6_Silent_p.G652G|ITCH_ENST00000483727.1_3'UTR	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	652	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						TGTTCCATGGGAAATTCATAG	0.308000													17	64					7.41877e-09	1.00463e-08	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57769423	57769423	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:57769423G>T	ENST00000371030.2	+	1	3349	c.3349G>T	c.(3349-3351)Ggg>Tgg	p.G1117W		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1117						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCTTCTTCAGGGCCCCTGGT	0.667000													11	54					5.50884e-06	6.63101e-06	1	1	0
OR2C3	81472	broad.mit.edu	37	1	247694880	247694880	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:247694880C>A	ENST00000366487.3	-	2	1295	c.934G>T	c.(934-936)Ggc>Tgc	p.G312C	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	312					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)			CCTGCAGAGCCACAGCAGTTC	0.522000													10	47					0.000673444	0.000744843	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72338512	72338512	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:72338512G>T	ENST00000340595.3	+	11	1792	c.1596G>T	c.(1594-1596)ttG>ttT	p.L532F	SLC4A4_ENST00000425175.1_Missense_Mutation_p.L576F|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L576F|SLC4A4_ENST00000512686.1_Missense_Mutation_p.L532F|SLC4A4_ENST00000264485.5_Missense_Mutation_p.L576F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	576						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCAGCTTCTTGGTTCAATACT	0.438000													27	87					1.2476e-16	2.10004e-16	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60885062	60885062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:60885062G>A	ENST00000252999.3	-	78	10876	c.10810C>T	c.(10810-10812)Cag>Tag	p.Q3604*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3604	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGTGCCACTGGCCATCACAC	0.697000													6	48					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46319066	46319066	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:46319066C>T	ENST00000397850.2	-	9	1361	c.909G>A	c.(907-909)tcG>tcA	p.S303S	ITGB2_ENST00000302347.5_Silent_p.S303S|ITGB2_ENST00000397854.3_Silent_p.S246S|ITGB2_ENST00000355153.4_Silent_p.S303S|ITGB2_ENST00000397852.1_Silent_p.S303S|ITGB2_ENST00000397857.1_Silent_p.S303S			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	303	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCTGGCCCACCGATGGGTAGT	0.622000													8	39					0	0	1	0	0
BOP1	23246	broad.mit.edu	37	8	145512941	145512941	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:145512941G>T	ENST00000307404.5	-	2	173	c.144C>A	c.(142-144)agC>agA	p.S48R	BOP1_ENST00000529231.1_5'UTR	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	block of proliferation 1	48					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding			lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-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;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			CGCCAGAATCGCTGCCGGTGC	0.617000													13	32					9.31168e-06	1.1145e-05	1	1	0
DPF3	8110	broad.mit.edu	37	14	73137954	73137954	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:73137954T>A	ENST00000541685.1	-	9	976	c.964A>T	c.(964-966)Acg>Tcg	p.T322S	DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Missense_Mutation_p.T332S|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	150					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)		AAAGTTGACGTGTCACTTTCT	0.577000													6	34					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8713960	8713960	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:8713960T>C	ENST00000378641.3	+	19	2439	c.1964T>C	c.(1963-1965)aTg>aCg	p.M655T	PLCB1_ENST00000378637.2_Missense_Mutation_p.M655T|PLCB1_ENST00000338037.6_Missense_Mutation_p.M655T|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	655	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCAGAGTTCATGAGGAGGCCT	0.423000													19	84					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609203	84609203	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:84609203G>T	ENST00000344803.2	+	4	3865	c.3818G>T	c.(3817-3819)aGg>aTg	p.R1273M		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAGGAGCCCAGGGTCCCTACC	0.542000													12	75					1.08611e-07	1.39055e-07	1	1	0
SEMG2	6407	broad.mit.edu	37	20	43851221	43851221	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:43851221C>A	ENST00000372769.3	+	2	1038	c.948C>A	c.(946-948)atC>atA	p.I316I		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	316	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GCATTTCTATCCAAACTGAAG	0.363000													11	42					0.000673444	0.000744843	1	1	0
TASP1	55617	broad.mit.edu	37	20	13610663	13610663	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:13610663C>A	ENST00000337743.4	-	2	183	c.63G>T	c.(61-63)tcG>tcT	p.S21S	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000544472.1_Silent_p.S21S|TASP1_ENST00000539805.1_Silent_p.S21S	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	21					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TTTTACCAGCCGAAACCTGAG	0.468000													12	78					1.5842e-08	2.11812e-08	1	1	0
PDE3B	5140	broad.mit.edu	37	11	14882866	14882866	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:14882866T>A	ENST00000282096.4	+	14	3193	c.2840T>A	c.(2839-2841)tTg>tAg	p.L947*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.L896*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	947	Catalytic (By similarity).				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						GTTCGAGACTTGCATTTGAAA	0.413000													14	126					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													6	39					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227478	38227478	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:38227478C>T	ENST00000373048.4	-	3	448	c.449G>A	c.(448-450)cGc>cAc	p.R150H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R150H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R150H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	150			R -> H (in a gastric adenocarcinoma sample; somatic mutation).			extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.R150H(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCGATTTTGCGGGGCCGGCT	0.667000													7	29					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216500977	216500977	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:216500977T>A	ENST00000366943.2	-	5	1190	c.804A>T	c.(802-804)ggA>ggT	p.G268G	USH2A_ENST00000307340.3_Silent_p.G268G|USH2A_ENST00000366942.3_Silent_p.G268G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	268			G -> R (in USH2A; uncertain pathogenicity).		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)		CTTGCATTCTTCCGACAAACT	0.363000										HNSCC(13;0.011)			55	92					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785442	111785442	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:111785442G>T	ENST00000261726.6	+	22	3928	c.3774G>T	c.(3772-3774)ccG>ccT	p.P1258P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1258						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						ACCCCACCCCGCAGAGCCCTG	0.637000													5	59					5.18039e-06	6.24455e-06	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118870133	118870133	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:118870133G>T	ENST00000295622.1	+	3	1645	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	535										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)		TGCTGTGCCAGGTATAGAATT	0.368000													15	139					0.00400662	0.00434051	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35928847	35928847	+	Silent	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:35928847T>G	ENST00000490799.1	-	13	1844	c.1491A>C	c.(1489-1491)tcA>tcC	p.S497S	SLC26A8_ENST00000394602.2_Silent_p.S392S|SLC26A8_ENST00000355574.2_Silent_p.S497S	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	497					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CCAGGAAAATTGAAGATGAGA	0.393000													13	48					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125069	104125069	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:104125069C>T	ENST00000259407.2	-	4	1006	c.898G>A	c.(898-900)Gag>Aag	p.E300K	BAAT_ENST00000395051.3_Missense_Mutation_p.E300K	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	300					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TGAGTTGTCTCAAAAGTGCGA	0.453000													9	68					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263467	248263467	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248263467C>A	ENST00000366478.2	+	3	1127	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	OR2L13_ENST00000358120.2_Missense_Mutation_p.L264I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.L264I(1)		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)			GCCCAGGAATCTCCGCTCACC	0.468000													71	157					3.20846e-33	6.01142e-33	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76592451	76592451	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:76592451G>T	ENST00000307431.8	+	25	4180	c.3795G>T	c.(3793-3795)caG>caT	p.Q1265H	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q1193H|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Q1269H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q1217H|RP11-58C22.1_ENST00000563764.1_Intron	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1266					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						GCATTTATCAGCAGAAAAGGT	0.363000													10	39					0.00010058	0.000113775	1	1	0
SLC25A6	293	broad.mit.edu	37	X	1505553	1505553	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:1505553C>A	ENST00000381401.5	-	4	1553	c.839G>T	c.(838-840)cGg>cTg	p.R280L		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	280					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	p.R280L(1)		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)	CCCCATGCCCCGCAGGACGTT	0.612000													32	186					1.36161e-19	2.36742e-19	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76660317	76660317	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:76660317G>C	ENST00000369950.3	-	13	1975	c.1786C>G	c.(1786-1788)Ctg>Gtg	p.L596V	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	596	SEA 2.				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)				CGGTACTCCAGAGAGCTCTTG	0.478000													4	38					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101841176	101841176	+	Silent	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:101841176A>G	ENST00000370418.3	-	1	458	c.207T>C	c.(205-207)ccT>ccC	p.P69P		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	69	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)		CGTGGATTCCAGGGTGGTCGC	0.577000													10	19					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83711848	83711848	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:83711848G>T	ENST00000566620.1	+	10	1610	c.1320G>T	c.(1318-1320)ctG>ctT	p.L440L	CDH13_ENST00000268613.10_Silent_p.L487L|CDH13_ENST00000428848.3_Silent_p.L401L	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	440	Cadherin 3.				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)		TCCACACCCTGCTGATCAAAG	0.537000													11	40					2.27111e-07	2.86431e-07	1	1	0
IGF2BP2	10644	broad.mit.edu	37	3	185376161	185376161	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:185376161G>A	ENST00000382199.2	-	11	1332	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.H356Y|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.H419Y|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.H370Y	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	413					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCAAACTGGTGATGGGGGTAC	0.612000													13	114					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371243	240371243	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:240371243C>A	ENST00000319653.9	+	5	3361	c.3131C>A	c.(3130-3132)cCg>cAg	p.P1044Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1044	FH1.|Pro-rich.				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)			ATACCCCCTCCGCCCCCACTT	0.731000													45	109					5.02462e-34	9.43513e-34	1	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862905	10862905	+	RNA	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:10862905G>T	ENST00000559480.1	+	0	201																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TTGAGTGGATGGGATTGGTGT	0.552000													20	117					5.35356e-11	7.88111e-11	1	1	0
OR7C2	26658	broad.mit.edu	37	19	15052757	15052757	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:15052757G>T	ENST00000248072.3	+	1	457	c.457G>T	c.(457-459)Gtc>Ttc	p.V153F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	153					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)					GTGCATCAGTGTCATGGGTTC	0.517000													23	150					1.55469e-16	2.60658e-16	1	1	0
FLRT3	23767	broad.mit.edu	37	20	14307371	14307371	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:14307371C>A	ENST00000378053.3	-	2	1038	c.782G>T	c.(781-783)cGg>cTg	p.R261L	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R261L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	261					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGGGGGCACCCGATTGATGTG	0.443000													7	39					8.12818e-05	9.23161e-05	1	1	0
SERPINA13P	388007	broad.mit.edu	37	14	95110002	95110002	+	RNA	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:95110002G>T	ENST00000469935.1	+	0	1039					NR_015340.1																						TCCCCAACAGGGGCAAGATGA	0.602000													9	23					0.00621372	0.00664632	1	1	0
OR52L1	338751	broad.mit.edu	37	11	6007986	6007986	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:6007986C>A	ENST00000332249.4	-	1	229	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAACATTGCCCACTAAAGCA	0.512000													4	25					0.217242	0.220637	1	1	0
SH2B2	10603	broad.mit.edu	37	7	101952100	101952100	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:101952100G>C	ENST00000536178.1	+	4	1009	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	SH2B2_ENST00000306803.8_Missense_Mutation_p.E279Q			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	279					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TCCCCAGGTAGAGAATGGAGC	0.592000													12	219					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99941257	99941257	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:99941257C>A	ENST00000524871.1	+	11	1554	c.1264C>A	c.(1264-1266)Cgt>Agt	p.R422S	CNTN5_ENST00000527185.1_Missense_Mutation_p.R422S|CNTN5_ENST00000279463.3_Missense_Mutation_p.R422S|CNTN5_ENST00000418526.2_Missense_Mutation_p.R348S|CNTN5_ENST00000528682.1_Missense_Mutation_p.R422S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	422	Ig-like C2-type 4.				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)		ACCCACGTATCGTTGGCTGAA	0.468000													10	20					1.05317e-09	1.4613e-09	1	1	0
SAAL1	113174	broad.mit.edu	37	11	18103035	18103035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:18103035C>A	ENST00000524803.1	-	11	1304	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*	SAAL1_ENST00000529318.1_Nonsense_Mutation_p.G421*|SAAL1_ENST00000300013.4_Nonsense_Mutation_p.G418*			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	419					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TCCTTTACTCCCTGAGCCACC	0.358000													8	69					7.48243e-07	9.31171e-07	1	1	0
METTL21C	196541	broad.mit.edu	37	13	103346735	103346735	+	Silent	SNP	G	G	T	rs144831458		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:103346735G>T	ENST00000267273.6	-	1	119	c.114C>A	c.(112-114)acC>acA	p.T38T		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	38							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GGACTCCCCCGGTGCTGTCTT	0.557000													9	43					7.48243e-07	9.31171e-07	1	1	0
CHD5	26038	broad.mit.edu	37	1	6211173	6211173	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:6211173T>A	ENST00000262450.3	-	7	1012	c.913A>T	c.(913-915)Agc>Tgc	p.S305C	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	305					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)		CTGTGGATGCTGGCGCTGTCG	0.597000													9	38					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64572080	64572080	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:64572080C>A	ENST00000337652.1	-	10	2077	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	MEN1_ENST00000377321.1_Missense_Mutation_p.G485V|MEN1_ENST00000315422.4_Missense_Mutation_p.G520V|MEN1_ENST00000443283.1_Missense_Mutation_p.G525V|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Missense_Mutation_p.G465V|MEN1_ENST00000312049.6_Missense_Mutation_p.G520V|MEN1_ENST00000394376.1_Missense_Mutation_p.G525V|MEN1_ENST00000377326.3_Missense_Mutation_p.G520V|MEN1_ENST00000394374.2_Missense_Mutation_p.G525V|MEN1_ENST00000377313.1_Missense_Mutation_p.G525V	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	525					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGCGACAGTCCCAGGAGGCTT	0.692000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				3	12					1	1	1	1	0
REG3A	5068	broad.mit.edu	37	2	79385829	79385829	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:79385829C>A	ENST00000393878.1	-	2	397	c.143G>T	c.(142-144)gGc>gTc	p.G48V	REG3A_ENST00000305165.2_Missense_Mutation_p.G48V|REG3A_ENST00000409839.3_Missense_Mutation_p.G48V|AC011754.1_ENST00000415201.1_RNA	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	48	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCAGTGGGAGCCATAGGCCTT	0.552000													13	43					0.000308642	0.000344067	1	1	0
PRSS38	339501	broad.mit.edu	37	1	228033677	228033677	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:228033677T>C	ENST00000366757.3	+	5	773	c.749T>C	c.(748-750)gTc>gCc	p.V250A		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	250	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGCCCACTTGTCTGTGAATTC	0.582000													6	99					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49643283	49643283	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:49643283G>A	ENST00000334186.4	+	18	2655	c.2306G>A	c.(2305-2307)cGt>cAt	p.R769H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R769H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	769						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCCATAGGCCGTCTCTTTGGC	0.537000													19	76					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79616594	79616594	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:79616594C>T	ENST00000372391.2	-	3	435	c.430G>A	c.(430-432)Gag>Aag	p.E144K	DLG5_ENST00000372388.2_Missense_Mutation_p.E144K	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	144					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)			TCCACCTTCTCATTCACTTGC	0.572000													11	13					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79943454	79943454	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:79943454G>C	ENST00000306729.7	+	4	442	c.345G>C	c.(343-345)tgG>tgC	p.W115C	ASPSCR1_ENST00000581647.1_Missense_Mutation_p.W115C|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.W115C|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.W38C	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	115							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGACCCTCTGGGAGCTTCTCA	0.557000			T	TFE3	alveolar soft part sarcoma								12	43					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156752857	156752857	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:156752857G>T	ENST00000275820.3	+	4	1636	c.1621G>T	c.(1621-1623)Gac>Tac	p.D541Y		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	541	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGAGTTTCAGGACCAGACCAG	0.473000													20	64					9.57634e-11	1.39517e-10	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144882694	144882694	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:144882694G>T	ENST00000369359.4	-	27	3774	c.3736C>A	c.(3736-3738)Ctg>Atg	p.L1246M	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1109M|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1246M|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L1109M|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1109					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)		GCATTCTTCAGTTTTCCCTGG	0.473000			T	PDGFRB	MPD								61	188					6.5469e-37	1.23485e-36	1	1	0
ATG4B	23192	broad.mit.edu	37	2	242590432	242590432	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:242590432G>T	ENST00000405546.3	+	2	520	c.18G>T	c.(16-18)ctG>ctT	p.L6L	ATG4B_ENST00000491867.1_3'UTR|ATG4B_ENST00000396411.3_5'UTR|ATG4B_ENST00000474739.2_5'UTR|ATG4B_ENST00000404914.3_Silent_p.L6L|ATG4B_ENST00000402096.1_5'UTR			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	6					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		CAGCTACTCTGACCTACGACA	0.418000													6	20					5.18039e-06	6.24455e-06	1	1	0
INPP5F	22876	broad.mit.edu	37	10	121563689	121563689	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:121563689T>C	ENST00000361976.2	+	10	1287	c.1121T>C	c.(1120-1122)aTt>aCt	p.I374T		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	374	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTATAGGTTATTATTAACTTG	0.338000													3	60					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260276	44260276	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:44260276C>A	ENST00000315087.7	-	7	1520	c.860G>T	c.(859-861)cGc>cTc	p.R287L	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R256L|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R323L|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	287					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GAGCCAGTAGCGCGACACGTT	0.617000													5	35					0.184627	0.188646	1	1	0
SEC14L3	266629	broad.mit.edu	37	22	30863060	30863060	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:30863060C>A	ENST00000403066.1	-	7	534	c.251G>T	c.(250-252)gGg>gTg	p.G84V	SEC14L3_ENST00000402286.1_Missense_Mutation_p.G66V|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G84V|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G84V|SEC14L3_ENST00000215812.4_Missense_Mutation_p.G143V|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G66V|SEC14L3_ENST00000539629.1_Missense_Mutation_p.G84V			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	143	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AATCTTCTTCCCTAGCTGCAA	0.488000													30	109					8.4185e-14	1.32717e-13	1	1	0
OR5D18	219438	broad.mit.edu	37	11	55587535	55587535	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55587535C>T	ENST00000333976.4	+	1	450	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	144					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)				ACTCTGCGTGCTGCTGGTTGT	0.463000													11	121					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31376229	31376229	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:31376229G>A	ENST00000355683.5	-	12	1705	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I	STRN3_ENST00000357479.5_Missense_Mutation_p.T581I	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	581					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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;0.0124)		ACCAACTAAAGTGCCAGCTAG	0.343000													14	45					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073662	197073662	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:197073662T>C	ENST00000367409.4	-	18	4975	c.4719A>G	c.(4717-4719)agA>agG	p.R1573R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1573					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						CTCTGTCTTGTCTCATTCTCC	0.338000													7	27					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235648	127235648	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:127235648C>A	ENST00000265825.5	+	2	651	c.432C>A	c.(430-432)gtC>gtA	p.V144V	FSCN3_ENST00000420086.2_Silent_p.V10V	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	144						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						CCCTCCATGTCCACGTGATCC	0.602000													11	79					9.31168e-06	1.1145e-05	1	1	0
MRPL32	64983	broad.mit.edu	37	7	42972003	42972003	+	Silent	SNP	G	G	T	rs113789800		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:42972003G>T	ENST00000223324.2	+	1	205	c.18G>T	c.(16-18)ctG>ctT	p.L6L		NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	6					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TGGCCATGCTGGTCTTGGTGG	0.642000													19	65					7.45023e-12	1.11227e-11	1	1	0
PPBP	5473	broad.mit.edu	37	4	74853810	74853810	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:74853810C>A	ENST00000296028.3	-	1	104	c.11G>T	c.(10-12)aGa>aTa	p.R4I		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	4					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGTATCAAGTCTGAGGCTCAT	0.537000													18	76					8.04996e-18	1.38256e-17	1	1	0
THSD1	55901	broad.mit.edu	37	13	52960220	52960220	+	Missense_Mutation	SNP	G	G	T	rs138873579	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:52960220G>T	ENST00000258613.4	-	4	1301	c.1123C>A	c.(1123-1125)Cct>Act	p.P375T	THSD1_ENST00000349258.4_Intron|THSD1_ENST00000544466.1_5'UTR	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	375	TSP type-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)		GGGCAGACAGGACTGGAGGGG	0.582000													17	70					2.35188e-11	3.47437e-11	1	1	0
MSRB3	253827	broad.mit.edu	37	12	65672556	65672556	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:65672556C>A	ENST00000355192.3	+	1	134	c.8C>A	c.(7-9)cCg>cAg	p.P3Q	MSRB3_ENST00000535664.1_5'UTR|MSRB3_ENST00000540804.1_Missense_Mutation_p.P3Q|MSRB3_ENST00000308259.5_5'UTR|MSRB3_ENST00000538725.1_3'UTR	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	3					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TCCATGAGCCCGCGGCGGACC	0.746000													5	9					1.6384e-10	2.35051e-10	1	1	0
UGT8	7368	broad.mit.edu	37	4	115544068	115544068	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:115544068T>C	ENST00000310836.6	+	2	554	c.32T>C	c.(31-33)cTg>cCg	p.L11P	UGT8_ENST00000394511.3_Missense_Mutation_p.L11P	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	11					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)		TTCATTCTCCTGTGGAGTGCT	0.403000													4	29					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9630012	9630012	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:9630012C>A	ENST00000382492.2	-	1	451	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	45					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGAAGGAGATCCAGCGGAGCC	0.383000													14	86					1.45105e-14	2.32223e-14	1	1	0
TBX18	9096	broad.mit.edu	37	6	85446962	85446962	+	Missense_Mutation	SNP	C	C	A	rs149770046	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:85446962C>A	ENST00000369663.5	-	8	1602	c.1265G>T	c.(1264-1266)cGc>cTc	p.R422L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	422					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAGGCCTGAGCGGGCACAGGC	0.602000													16	76					3.99206e-14	6.31702e-14	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32526654	32526654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:32526654G>A	ENST00000286827.3	-	18	3553	c.3082C>T	c.(3082-3084)Cag>Tag	p.Q1028*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.Q968*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1028					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						GTCGCCAGCTGAGGCCCCGTG	0.567000													6	83					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994776	994776	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:994776C>T	ENST00000537687.1	+	19	6229	c.5586C>T	c.(5584-5586)ccC>ccT	p.P1862P	WNK1_ENST00000315939.6_Silent_p.P1602P|WNK1_ENST00000340908.4_Silent_p.P1195P|WNK1_ENST00000530271.2_Silent_p.P2100P|WNK1_ENST00000535572.1_Silent_p.P1355P	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1602					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)			GTATCCCACCCTTGGTACAGC	0.483000													27	83					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95705394	95705394	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:95705394G>A	ENST00000376887.4	-	27	3525	c.3411C>T	c.(3409-3411)ccC>ccT	p.P1137P	ABCC4_ENST00000412704.1_Silent_p.P1090P	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1137	ABC transporter 2.				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)	GCTCATTAAAGGGATCCAGGT	0.378000													9	57					0	0	1	0	0
RAB34	83871	broad.mit.edu	37	17	27044007	27044007	+	Silent	SNP	C	C	G	rs146560008		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:27044007C>G	ENST00000395245.3	-	2	686	c.60G>C	c.(58-60)ctG>ctC	p.L20L	RAB34_ENST00000436730.3_Silent_p.L20L|RAB34_ENST00000395243.3_Silent_p.L20L|RAB34_ENST00000450529.1_Silent_p.L20L|RAB34_ENST00000453384.3_Silent_p.L77L|RAB34_ENST00000395242.2_Silent_p.L20L|RAB34_ENST00000301043.6_Silent_p.L20L|RAB34_ENST00000415040.2_Silent_p.L20L|RAB34_ENST00000447716.1_Silent_p.L77L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	20					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)					CCTCCTTCCTCAGGCACTTAG	0.647000													14	27					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96006295	96006295	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:96006295C>G	ENST00000260766.3	+	8	3647	c.3013C>G	c.(3013-3015)Ctc>Gtc	p.L1005V	PLCE1_ENST00000371375.1_Missense_Mutation_p.L697V|PLCE1_ENST00000371385.3_Missense_Mutation_p.L697V|PLCE1_ENST00000371380.2_Missense_Mutation_p.L1005V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1005					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)				ATTATTGGAACTCACTAGAGC	0.478000													13	80					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45743283	45743283	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:45743283G>A	ENST00000297323.7	+	16	2678	c.2656G>A	c.(2656-2658)Ggc>Agc	p.G886S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	886					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CGAGCTGGACGGCAACAACAT	0.567000													5	275					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197334	71197334	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:71197334T>A	ENST00000554752.2	-	12	3077	c.3078A>T	c.(3076-3078)acA>acT	p.T1026T	MAP3K9_ENST00000555993.2_Silent_p.T1040T|MAP3K9_ENST00000553414.1_Silent_p.T759T|MAP3K9_ENST00000554146.1_Silent_p.T754T|MAP3K9_ENST00000381250.4_Silent_p.T1003T			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1026	Ser-rich.				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)		TGGGCGTCTCTGTGCTGGAGC	0.662000													10	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641605	179641605	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179641605G>A	ENST00000589042.1	-	28	5210	c.4986C>T	c.(4984-4986)atC>atT	p.I1662I	TTN_ENST00000360870.5_Silent_p.I1662I|TTN_ENST00000591111.1_Silent_p.I1662I|TTN_ENST00000460472.2_Silent_p.I1616I|TTN_ENST00000359218.5_Silent_p.I1616I|TTN_ENST00000342992.6_Silent_p.I1662I|TTN_ENST00000342175.6_Silent_p.I1616I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1406							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)			TCCCCCGTGGGATGATTAACT	0.473000													14	48					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077685	9077685	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:9077685C>A	ENST00000397910.4	-	3	9964	c.9761G>T	c.(9760-9762)aGt>aTt	p.S3254I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3255	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						GGTGCTGCCACTTCCTAGGGC	0.522000													23	128					3.73988e-18	6.43625e-18	1	1	0
FLG2	388698	broad.mit.edu	37	1	152328162	152328162	+	Silent	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152328162T>G	ENST00000388718.5	-	3	2172	c.2100A>C	c.(2098-2100)tcA>tcC	p.S700S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	700	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)			ATGATTGACTTGAGCCAAAAC	0.468000													83	583					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523382	49523382	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:49523382C>A	ENST00000336023.5	-	2	221	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	43					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TCTCCTCCCCCAATGGTCTTG	0.587000													15	115					4.14922e-12	6.27207e-12	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62296071	62296071	+	Missense_Mutation	SNP	C	C	T	rs113787339		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:62296071C>T	ENST00000378024.4	-	5	6092	c.5818G>A	c.(5818-5820)Gtg>Atg	p.V1940M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1940					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)				GACACATCCACATCCCCTTTG	0.502000													5	298					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11190713	11190713	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:11190713G>A	ENST00000379446.5	-	5	1555	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.L463L	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	463					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGACAAAGTGGAGGTACTCCT	0.522000													7	26					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212731	60212731	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:60212731C>A	ENST00000267484.5	-	2	1045	c.710G>T	c.(709-711)cGt>cTt	p.R237L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	237					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTCAGGTTCACGGACTCCTTC	0.423000													24	114					5.45024e-15	8.90803e-15	1	1	0
KALRN	8997	broad.mit.edu	37	3	124438088	124438088	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:124438088C>A	ENST00000360013.3	+	60	8859	c.8732C>A	c.(8731-8733)gCc>gAc	p.A2911D	KALRN_ENST00000428018.2_Missense_Mutation_p.A1182D|KALRN_ENST00000291478.4_Missense_Mutation_p.A1214D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2910	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCAATGCTGCCAGAGATTTC	0.512000													7	42					0.00829132	0.00884617	1	1	0
RFC4	5984	broad.mit.edu	37	3	186512499	186512499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:186512499G>A	ENST00000392481.2	-	5	639	c.358C>T	c.(358-360)Cga>Tga	p.R120*	RFC4_ENST00000433496.1_Nonsense_Mutation_p.R120*|RFC4_ENST00000296273.2_Nonsense_Mutation_p.R120*	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	120					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|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|protein binding	p.R120*(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		ACTTTCTCTCGAACTACTTGT	0.348000													8	36					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528080	157528080	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:157528080G>T	ENST00000346085.5	+	20	5806	c.5805G>T	c.(5803-5805)gcG>gcT	p.A1935A	ARID1B_ENST00000275248.4_Silent_p.A1917A|ARID1B_ENST00000367148.1_Silent_p.A1975A|ARID1B_ENST00000350026.5_Silent_p.A1922A	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					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)		GTACCATCGCGCACTGGCAGG	0.537000													19	112					1.2644e-06	1.56431e-06	1	1	0
GABRB3	2562	broad.mit.edu	37	15	27184577	27184577	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:27184577G>T	ENST00000541819.2	-	1	109	c.7C>A	c.(7-9)Cag>Aag	p.Q3K	GABRA5_ENST00000400081.3_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000335625.5_Intron			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0					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)	CTCCTGAGCTGCTGCATCTCA	0.597000													7	15					0.00307968	0.0033406	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119770372	119770372	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:119770372G>T	ENST00000313400.4	-	7	1690	c.1591_splice	c.e7+1	p.T530_splice	ASTN2_ENST00000373996.3_Splice_Site_p.T530_splice|ASTN2_ENST00000361209.2_Splice_Site_p.T479_splice|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	530	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ATGGCTCACCGGTTTCTGGGT	0.557000													18	53					1.01871e-10	1.4816e-10	1	1	0
LY9	4063	broad.mit.edu	37	1	160797585	160797585	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:160797585T>A	ENST00000263285.5	+	10	1977	c.1947T>A	c.(1945-1947)ccT>ccA	p.P649P	LY9_ENST00000341032.4_Silent_p.P515P|LY9_ENST00000368041.2_Silent_p.P520P|LY9_ENST00000368035.1_Silent_p.P264P|LY9_ENST00000368040.1_Silent_p.P264P	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	649					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGAAAGTCCTACCTATGAAA	0.493000													18	158					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56443440	56443440	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:56443440G>T	ENST00000588751.1	-	1	262	c.238C>A	c.(238-240)Cag>Aag	p.Q80K	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q80K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	80	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCCATGCCTGACCTTTTGGG	0.527000													10	71					2.80697e-09	3.83181e-09	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113585852	113585852	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:113585852A>G	ENST00000297405.5	-	24	4164	c.3920T>C	c.(3919-3921)cTa>cCa	p.L1307P	CSMD3_ENST00000343508.3_Missense_Mutation_p.L1267P|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1307P|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1203P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1307	CUB 7.					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						AAAAGCACCTAGTAGATGAGT	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	68					0	0	1	0	0
RGP1	9827	broad.mit.edu	37	9	35751401	35751401	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:35751401G>T	ENST00000378078.4	+	6	767	c.626G>T	c.(625-627)cGc>cTc	p.R209L	RGP1_ENST00000456972.2_Missense_Mutation_p.R249L	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	209										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACATCCTGCCGCAGCCTCCGT	0.532000													11	54					4.68919e-08	6.09595e-08	1	1	0
RBM46	166863	broad.mit.edu	37	4	155719112	155719112	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:155719112C>A	ENST00000510397.1	+	3	480	c.301C>A	c.(301-303)Cga>Aga	p.R101R	RBM46_ENST00000514866.1_Silent_p.R101R|RBM46_ENST00000281722.3_Silent_p.R101R	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	101	RRM 1.						nucleotide binding|RNA binding	p.R101*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGTGAAAATCGAGGTTATGC	0.343000													5	38					1	1	1	1	0
ZXDA	7789	broad.mit.edu	37	X	57934461	57934461	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:57934461C>A	ENST00000358697.4	-	1	2606	c.2394G>T	c.(2392-2394)ttG>ttT	p.L798F		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	798					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						TGCTTCATACCAAAAATGAGC	0.393000													16	24					1.5739e-10	2.2773e-10	1	1	0
OR5T2	219464	broad.mit.edu	37	11	56000021	56000021	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:56000021C>A	ENST00000313264.4	-	1	716	c.641G>T	c.(640-642)aGg>aTg	p.R214M		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AAAGACACGCCTAATTTCATT	0.428000													17	130					4.75885e-15	7.79308e-15	1	1	0
SLC4A11	83959	broad.mit.edu	37	20	3211888	3211888	+	Splice_Site	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:3211888G>A	ENST00000380059.3	-	9	1179	c.1077_splice	c.e9-1	p.P360_splice	SLC4A11_ENST00000380056.3_Splice_Site_p.P333_splice|SLC4A11_ENST00000539553.1_Splice_Site_p.P317_splice|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	333					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CACTTTGGGGGCTGGAGGAGA	0.647000													16	33					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55227989	55227989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:55227989C>T	ENST00000275493.2	+	12	1633	c.1456C>T	c.(1456-1458)Cag>Tag	p.Q486*	EGFR_ENST00000344576.2_Nonsense_Mutation_p.Q486*|EGFR_ENST00000442591.1_Nonsense_Mutation_p.Q486*|EGFR_ENST00000454757.2_Nonsense_Mutation_p.Q433*|EGFR_ENST00000455089.1_Nonsense_Mutation_p.Q441*|EGFR_ENST00000342916.3_Nonsense_Mutation_p.Q486*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	486					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GACCTCCGGTCAGAAAACCAA	0.373000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			6	35					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52659056	52659056	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:52659056T>A	ENST00000322146.8	-	5	2401	c.1880A>T	c.(1879-1881)aAt>aTt	p.N627I	ZNF836_ENST00000597252.1_Missense_Mutation_p.N627I|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	627					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						TCTCTTATGATTTGAAAGGTT	0.408000													5	111					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608410	177608410	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:177608410G>T	ENST00000280193.2	-	6	1491	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	359	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACATTCACAGGCACATTTTCC	0.408000													38	145					8.20599e-20	1.4386e-19	1	1	0
CRB1	23418	broad.mit.edu	37	1	197390932	197390932	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:197390932C>A	ENST00000543483.1	+	6	1258	c.863C>A	c.(862-864)tCt>tAt	p.S288Y	CRB1_ENST00000535699.1_Silent_p.I589I|CRB1_ENST00000544212.1_Silent_p.I139I|CRB1_ENST00000367400.3_Silent_p.I658I|CRB1_ENST00000367399.2_Silent_p.I546I|CRB1_ENST00000538660.1_Silent_p.I658I|CRB1_ENST00000367397.1_Silent_p.I39I			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	0	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGAGAACATCTCGTCTGGCT	0.443000													20	160					9.86323e-18	1.68713e-17	1	1	0
INO80D	54891	broad.mit.edu	37	2	206911327	206911327	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:206911327C>G	ENST00000403263.1	-	5	1378	c.974G>C	c.(973-975)tGg>tCg	p.W325S		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	325					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTCTTCAGACCAGTCCAAACC	0.433000													11	44					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16485072	16485072	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:16485072C>A	ENST00000354981.2	-	10	1278	c.1121G>T	c.(1120-1122)cGt>cTt	p.R374L	KIF16B_ENST00000408042.1_Missense_Mutation_p.R374L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R374L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	374					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						TCGCAGCTCACGGATAAGTTT	0.408000													27	121					3.1745e-13	4.93097e-13	1	1	0
ZNF16	7564	broad.mit.edu	37	8	146157370	146157370	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:146157370C>A	ENST00000276816.4	-	4	989	c.803G>T	c.(802-804)aGc>aTc	p.S268I	ZNF16_ENST00000394909.2_Missense_Mutation_p.S268I	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	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)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CCCACATTCGCTGCACTGGTA	0.458000													24	104					1.2476e-16	2.10004e-16	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248031146	248031146	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248031146G>T	ENST00000366481.3	+	4	795		c.e4-1			NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58							intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCCTTTTCAGGGTGTGAGAG	0.468000													4	102					0.217242	0.220637	1	1	0
MT-CO1	4512	broad.mit.edu	37	MT	6415	6415	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrM:6415T>C	ENST00000361624.2	+	1	512	c.512T>C	c.(511-513)aTa>aCa	p.171_171insT						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AATTATCAATATAAAACCCCC	0.493000													7	0					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11078853	11078853	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:11078853G>A	ENST00000240185.3	+	4	580	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	TARDBP_ENST00000439080.2_Missense_Mutation_p.E40K|TARDBP_ENST00000315091.3_Missense_Mutation_p.E156K	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	156	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TACGGAATATGAAACACAAGT	0.398000													20	91					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23359988	23359988	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:23359988A>T	ENST00000343070.2	+	2	244	c.68A>T	c.(67-69)aAg>aTg	p.K23M	SCNN1B_ENST00000307331.5_Missense_Mutation_p.K68M|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568085.1_Missense_Mutation_p.K23M|SCNN1B_ENST00000568923.1_Missense_Mutation_p.K23M	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	23					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TACACGTACAAGGAGCTGCTG	0.602000													10	36					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953535	32953535	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:32953535T>A	ENST00000321639.5	+	2	785	c.457T>A	c.(457-459)Tgg>Agg	p.W153R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	153						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGGCCGGGACTGGGACGACTT	0.697000													12	21					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110390965	110390965	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:110390965G>T	ENST00000519681.1	+	8	782	c.339_splice	c.e8-1	p.G114_splice	PAK3_ENST00000417227.1_Splice_Site_p.G114_splice|PAK3_ENST00000360648.4_Splice_Site_p.G129_splice|PAK3_ENST00000518291.1_Splice_Site_p.G129_splice|PAK3_ENST00000446737.1_Splice_Site_p.G93_splice|PAK3_ENST00000425146.1_Splice_Site_p.G93_splice|PAK3_ENST00000372010.1_Splice_Site_p.G108_splice|PAK3_ENST00000262836.4_Splice_Site_p.G108_splice|PAK3_ENST00000372007.4_Splice_Site_p.G93_splice			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	108	Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTGTCCACAGGGAATTCCAGA	0.418000										TSP Lung(19;0.15)			24	18					2.12542e-12	3.24183e-12	1	1	0
CECR5	27440	broad.mit.edu	37	22	17619447	17619447	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:17619447C>A	ENST00000336737.4	-	7	953	c.928G>T	c.(928-930)Gct>Tct	p.A310S	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.A280S	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	310							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TACCCCACAGCATAGAGCTTC	0.577000													24	130					1.1804e-14	1.91079e-14	1	1	0
MYLIP	29116	broad.mit.edu	37	6	16145422	16145422	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:16145422G>A	ENST00000349606.4	+	5	1083	c.579G>A	c.(577-579)ctG>ctA	p.L193L	MYLIP_ENST00000356840.3_Silent_p.L374L			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	374	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CCCGGGTGCTGCAGGAGAAGC	0.587000													4	94					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52387622	52387622	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:52387622C>A	ENST00000356297.4	-	7	704	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G202C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	202	LRRCT.				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)				TGGGTGTGGCCGTGTTGGGCA	0.537000													9	24					0.000442599	0.000491454	1	1	0
DDX10	1662	broad.mit.edu	37	11	108594087	108594087	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:108594087A>T	ENST00000526794.1	+	13	1895	c.1863A>T	c.(1861-1863)acA>acT	p.T621T	DDX10_ENST00000322536.3_Silent_p.T621T			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	621							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGTTCCTACACAGTTCTTGG	0.428000			T	NUP98	AML*								14	30					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541053	55541053	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55541053T>G	ENST00000361760.1	+	1	140	c.140T>G	c.(139-141)aTg>aGg	p.M47R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	47					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)				AACTTGGGCATGATAATAATC	0.388000													25	84					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132416140	132416140	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:132416140T>A	ENST00000326682.8	-	14	2128	c.2052A>T	c.(2050-2052)gaA>gaT	p.E684D	NPHP3_ENST00000337331.5_Missense_Mutation_p.E684D			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	684					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			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						CAGAGTGGCATTCTGCAATTA	0.308000													17	59					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770075	38770075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:38770075G>T	ENST00000449082.2	-	15	2597	c.2598C>A	c.(2596-2598)tgC>tgA	p.C866*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	866					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAAGGATGAGGCATATGGATT	0.527000													13	45					2.32078e-09	3.17838e-09	1	1	0
GLDC	2731	broad.mit.edu	37	9	6540061	6540061	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:6540061G>T	ENST00000321612.6	-	22	2805	c.2655C>A	c.(2653-2655)ctC>ctA	p.L885L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	885					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATAATCCTGGAGTCTCTTGG	0.458000													15	82					1.45105e-14	2.32223e-14	1	1	0
NEB	4703	broad.mit.edu	37	2	152507090	152507090	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:152507090C>G	ENST00000397345.3	-	53	7427	c.7225G>C	c.(7225-7227)Gag>Cag	p.E2409Q	NEB_ENST00000604864.1_Missense_Mutation_p.E2409Q|NEB_ENST00000603639.1_Missense_Mutation_p.E2409Q|NEB_ENST00000409198.1_Missense_Mutation_p.E2409Q|NEB_ENST00000172853.10_Missense_Mutation_p.E2409Q|NEB_ENST00000427231.2_Missense_Mutation_p.E2409Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2409					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)		AAACTGACCTCACTTTGCAGT	0.338000													5	92					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762294	53762294	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:53762294G>A	ENST00000341702.3	+	1	750	c.666G>A	c.(664-666)ctG>ctA	p.L222L		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	222					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)		TCCACATGCTGGTAAATGCCA	0.448000													4	32					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409427	105409427	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						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)			TTGTCGGCCAGGGACAGGTCC	0.587000													6	404					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10644641	10644641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:10644641C>A	ENST00000254958.5	-	3	924	c.409G>T	c.(409-411)Gag>Tag	p.E137*		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	137					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCCCACGCCTCCACAAGCAAC	0.473000									Alagille Syndrome				16	64					1.67942e-08	2.24187e-08	1	1	0
AC010731.4	0	broad.mit.edu	37	2	207509178	207509178	+	RNA	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:207509178G>T	ENST00000543490.1	+	0	393																											TCAGGCTTCTGGGATTTTATG	0.493000													3	18					0.115264	0.118489	1	1	0
SUPT16H	11198	broad.mit.edu	37	14	21826513	21826513	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:21826513T>C	ENST00000216297.2	-	20	2713	c.2375A>G	c.(2374-2376)aAg>aGg	p.K792R		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	792					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)		CAGTTCCTCCTTAGTTAGAGC	0.348000													4	40					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113102941	113102941	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:113102941C>A	ENST00000316851.7	+	10	1260	c.1260C>A	c.(1258-1260)aaC>aaA	p.N420K	NCAM1_ENST00000533760.1_Missense_Mutation_p.N302K|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.N429K	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	430	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)		GGGAGGGGAACCAGGTGAACA	0.512000													6	23					3.59834e-05	4.19392e-05	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128335860	128335860	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:128335860G>T	ENST00000389524.4	+	9	1055	c.1003_splice	c.e9+1	p.M334_splice	MYO7B_ENST00000409816.2_Splice_Site_p.M334_splice|MYO7B_ENST00000428314.1_Splice_Site_p.M334_splice			Q6PIF6	MYO7B_HUMAN	myosin VIIB	334	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)		TGGGGTTCATGGGTAATGCCG	0.597000													9	34					1.58986e-06	1.95267e-06	1	1	0
C15orf26	161502	broad.mit.edu	37	15	81440257	81440257	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:81440257G>T	ENST00000286732.4	+	6	778	c.695G>T	c.(694-696)cGg>cTg	p.R232L		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	232								p.R232Q(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GCAGCCCACCGGCATCTTTTC	0.388000													4	62					0.00116845	0.00128059	1	1	0
NSG1	27065	broad.mit.edu	37	4	4418977	4418977	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:4418977C>A	ENST00000421177.2	+	9	2364	c.373C>A	c.(373-375)Cca>Aca	p.P125T	NSG1_ENST00000433139.2_Missense_Mutation_p.P125T|NSG1_ENST00000505246.1_Missense_Mutation_p.P125T|NSG1_ENST00000513555.1_Missense_Mutation_p.P125T|NSG1_ENST00000506380.1_Missense_Mutation_p.P125T|NSG1_ENST00000397958.1_Missense_Mutation_p.P125T|NSG1_ENST00000504171.1_Missense_Mutation_p.P86T|STX18_ENST00000505286.1_Intron																							CCAGTGCATCCCAGAAGGCTT	0.547000													11	60					1.61879e-10	2.32632e-10	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651167	84651167	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:84651167C>A	ENST00000286744.5	+	21	3011	c.2787C>A	c.(2785-2787)tcC>tcA	p.S929S	ADAMTSL3_ENST00000567476.1_Silent_p.S929S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	929	Ig-like C2-type 1.					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)			CCAACACATCCGTGATTATTA	0.512000													19	86					1.33834e-09	1.84185e-09	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48628112	48628112	+	Missense_Mutation	SNP	G	G	A	rs147470888		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:48628112G>A	ENST00000328333.8	-	13	1881	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R592C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	592	Fibronectin type-III 4.|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)		TCACCCCGGCGGACAGTGAGG	0.597000													26	59					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425572	74425572	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:74425572C>T	ENST00000429990.1	+	7	1022	c.926C>T	c.(925-927)tCt>tTt	p.S309F						nuclear pore complex interacting protein family, member B15																		CTTCCACCCTCTCCTCTTCCA	0.498000													5	300					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181705478	181705478	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:181705478G>T	ENST00000526775.1	+	21	3438	c.3273G>T	c.(3271-3273)gaG>gaT	p.E1091D	CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1091D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1042D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1110D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E717D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1061D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1110D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1110					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						atgaggaggaggtggagaaga	0.512000													7	20					3.09899e-07	3.891e-07	1	1	0
PNPT1	87178	broad.mit.edu	37	2	55912159	55912159	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:55912159C>A	ENST00000447944.2	-	4	408	c.322G>T	c.(322-324)Gca>Tca	p.A108S		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	108					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACCTGCTGCAGCAGCTTTT	0.333000													6	38					0.27861	0.282624	1	1	0
SAMD7	344658	broad.mit.edu	37	3	169637306	169637306	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:169637306T>A	ENST00000428432.2	+	3	409	c.20T>A	c.(19-21)tTg>tAg	p.L7*	SAMD7_ENST00000335556.3_Nonsense_Mutation_p.L7*	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	7										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AACCCTTTATTGACACCAACA	0.423000													20	93					0	0	1	0	0
UQCC2	84300	broad.mit.edu	37	6	33669173	33669173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:33669173G>A	ENST00000607484.1	-	2	203	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	MNF1_ENST00000374214.3_Intron	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN		55																	TCGTACATCTGATCACAGGCC	0.493000													4	118					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770608	53770608	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:53770608A>G	ENST00000311170.4	-	1	364	c.311T>C	c.(310-312)tTc>tCc	p.F104S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	104					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)		GATCACCTGGAAGACACTCAA	0.493000										HNSCC(26;0.072)			3	36					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190619	58190619	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:58190619C>A	ENST00000302581.2	-	1	167	c.116G>T	c.(115-117)gGg>gTg	p.G39V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCCAGGTTCCCACACAGAGT	0.478000													34	78					4.62619e-21	8.22975e-21	1	1	0
IFNL3	282617	broad.mit.edu	37	19	39735580	39735580	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:39735580C>G	ENST00000413851.2	-	1	66	c.28G>C	c.(28-30)Gtg>Ctg	p.V10L		NM_172139.2	NP_742151.2			interferon, lambda 3																		GCCATCAGCACCAGCACTGGC	0.637000													18	67					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57505025	57505025	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:57505025A>T	ENST00000219252.5	+	9	1160	c.822A>T	c.(820-822)atA>atT	p.I274I		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	274					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|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TGCTAACCATAAATTAACTGC	0.453000													15	56					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89735212	89735212	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:89735212G>T	ENST00000343435.5	-	3	563	c.27C>A	c.(25-27)gaC>gaA	p.D9E	GBP5_ENST00000370459.3_Missense_Mutation_p.D9E|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	9						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGCACATGGGGTCTGACATGT	0.453000													15	116					1.15088e-07	1.4668e-07	1	1	0
RASSF4	83937	broad.mit.edu	37	10	45488724	45488724	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:45488724G>T	ENST00000334940.6	+	11	1074	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	RASSF4_ENST00000340258.4_Missense_Mutation_p.A305S|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	305	SARAH.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CAGGTTCCAAGCCCTGCGTCT	0.627000													7	27					1.76689e-08	2.34384e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179458737	179458737	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179458737C>A	ENST00000589042.1	-	297	58607	c.58383G>T	c.(58381-58383)gtG>gtT	p.V19461V	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.V17820V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V10396V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.V10521V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.V16893V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.V10588V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17820	Fibronectin type-III 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)			TACTGTTCTCCACAACCACAC	0.398000													30	87					2.08457e-15	3.45384e-15	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55032584	55032584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55032584C>T	ENST00000417545.2	+	2	339	c.253C>T	c.(253-255)Cga>Tga	p.R85*		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	69						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACTAACATTCGATTGAAGAA	0.448000													4	59					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135086508	135086508	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:135086508G>C	ENST00000445355.3	-	7	639	c.589C>G	c.(589-591)Cga>Gga	p.R197G	ADAM8_ENST00000485491.2_Missense_Mutation_p.R158G|ADAM8_ENST00000415217.3_Missense_Mutation_p.R197G	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	158					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CGGGTCTCTCGGGATGGCAGA	0.682000													19	102					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33833039	33833039	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:33833039G>C	ENST00000389232.4	+	7	664	c.594G>C	c.(592-594)atG>atC	p.M198I	RYR3_ENST00000415757.3_Missense_Mutation_p.M198I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	198	MIR 2.				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)		CCTCCTTTATGCAAACACTCT	0.443000													21	64					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56384267	56384267	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:56384267G>A	ENST00000355701.3	-	25	5916	c.5046C>T	c.(5044-5046)taC>taT	p.Y1682Y	BZRAP1_ENST00000268893.6_Silent_p.Y1622Y|BZRAP1_ENST00000343736.4_Silent_p.Y1682Y	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1682	SH3 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAGGGAATGTAGCCTGTCC	0.587000													24	82					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62300902	62300902	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:62300902T>C	ENST00000261517.5	-	14	1143	c.1070A>G	c.(1069-1071)tAt>tGt	p.Y357C	VPS13C_ENST00000395898.3_Missense_Mutation_p.Y314C|VPS13C_ENST00000395896.4_Missense_Mutation_p.Y357C|VPS13C_ENST00000249837.3_Missense_Mutation_p.Y314C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	357					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						GTATTTCCTATAAGGCGCATT	0.289000													10	34					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578431	7578431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:7578431G>A	ENST00000420246.2	-	5	631	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	167	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; 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.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(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)		GTCATGTGCTGTGACTGCTTG	0.642000		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)			14	47					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151161241	151161241	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:151161241G>A	ENST00000282466.3	-	5	5493	c.5494C>T	c.(5494-5496)Ctg>Ttg	p.L1832L		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	1832	Ig-like C2-type 4.				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)			ATTTTAACCAGCAGTGAATCC	0.473000													5	26					0	0	1	0	0
WBP2	23558	broad.mit.edu	37	17	73847686	73847686	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:73847686C>A	ENST00000591399.1	-	3	555	c.131G>T	c.(130-132)gGg>gTg	p.G44V	WBP2_ENST00000254806.3_Missense_Mutation_p.G44V|WBP2_ENST00000585462.1_Missense_Mutation_p.G22V|WBP2_ENST00000433525.2_Missense_Mutation_p.G44V|WBP2_ENST00000590221.1_Missense_Mutation_p.G44V|WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000344296.4_Missense_Mutation_p.G22V			Q969T9	WBP2_HUMAN	WW domain binding protein 2	44	GRAM.						protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTCTTGGTCCCTTTGAAGGC	0.488000													33	146					1.59361e-14	2.54075e-14	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123226112	123226112	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:123226112G>A	ENST00000264501.4	+	56	10019	c.9646G>A	c.(9646-9648)Gca>Aca	p.A3216T	KIAA1109_ENST00000455637.1_Missense_Mutation_p.A3216T|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A3216T			Q2LD37	K1109_HUMAN	KIAA1109	3216					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						TTTAAATCTGGCATTAGGACA	0.368000													6	56					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215368369	215368369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:215368369C>A	ENST00000444842.2	+	6	1047	c.897C>A	c.(895-897)taC>taA	p.Y299*	KCNK2_ENST00000391895.2_Nonsense_Mutation_p.Y295*|KCNK2_ENST00000391894.2_Nonsense_Mutation_p.Y284*	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	299							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GGCTTGCTTACTTTGCTGCTG	0.398000													27	237					1.99505e-19	3.46164e-19	1	1	0
CADM4	199731	broad.mit.edu	37	19	44129230	44129230	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:44129230C>A	ENST00000222374.2	-	7	976	c.928_splice	c.e7+1	p.D310_splice	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	310					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CTGCTCTCACCGTAGACCACA	0.672000													9	27					3.86212e-05	4.47667e-05	1	1	0
LEPREL4	10609	broad.mit.edu	37	17	39967432	39967432	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:39967432C>A	ENST00000355468.3	-	3	1033	c.567G>T	c.(565-567)ctG>ctT	p.L189L	LEPREL4_ENST00000393928.1_Silent_p.L189L			Q92791	SC65_HUMAN	leprecan-like 4	189					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CGGCGACGTCCAGCATCCCCT	0.637000													36	320					1.91693e-13	2.98857e-13	1	1	0
WDYHV1	55093	broad.mit.edu	37	8	124448714	124448714	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:124448714C>T	ENST00000523984.1	+	4	304	c.76C>T	c.(76-78)Cat>Tat	p.H26Y	WDYHV1_ENST00000518125.1_Intron|WDYHV1_ENST00000287387.2_Missense_Mutation_p.H86Y|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.H86Y			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	86					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TGTTTTGCTTCATGTTTCAAG	0.368000													5	35					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135482015	135482015	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:135482015G>T	ENST00000394143.1	+	21	8606	c.8315G>T	c.(8314-8316)cGa>cTa	p.R2772L	GPR112_ENST00000287534.4_Missense_Mutation_p.R2525L|GPR112_ENST00000394141.1_Missense_Mutation_p.R2567L|GPR112_ENST00000412101.1_Missense_Mutation_p.R2567L|GPR112_ENST00000370652.1_Missense_Mutation_p.R2772L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2772					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)					AGCAAACTTCGAAAAGATTAT	0.318000													14	24					0.000219431	0.000246241	1	1	0
KRT74	121391	broad.mit.edu	37	12	52962019	52962019	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:52962019C>T	ENST00000549343.1	-	8	1369	c.1331G>A	c.(1330-1332)aGc>aAc	p.S444N	KRT74_ENST00000305620.2_Missense_Mutation_p.S430N			Q7RTS7	K2C74_HUMAN	keratin 74	430	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGTTTCAGGCTCATGAGCTC	0.637000													24	84					0	0	1	0	0
VSIG8	391123	broad.mit.edu	37	1	159832278	159832278	+	Missense_Mutation	SNP	C	C	A	rs142337981		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:159832278C>A	ENST00000368100.1	-	1	169	c.34G>T	c.(34-36)Gtg>Ttg	p.V12L	RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	12						integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CTCAGGCACACGAGTAGAAGG	0.627000													15	210					1.64113e-05	1.92873e-05	1	1	0
WIPI2	26100	broad.mit.edu	37	7	5266859	5266859	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:5266859C>T	ENST00000288828.4	+	10	1129	c.897C>T	c.(895-897)ctC>ctT	p.L299L	WIPI2_ENST00000401525.3_Silent_p.L281L|WIPI2_ENST00000484262.1_Silent_p.L240L|WIPI2_ENST00000404704.3_Silent_p.L299L|WIPI2_ENST00000382384.2_Silent_p.L281L	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	299					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GGAAAGTGCTCATGGCCTCCA	0.612000													10	120					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106555151	106555151	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:106555151G>A	ENST00000369096.4	+	7	2502	c.2268G>A	c.(2266-2268)gaG>gaA	p.E756E	PRDM1_ENST00000369091.2_Silent_p.E720E|PRDM1_ENST00000369089.3_Silent_p.E622E	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	756					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)		CTGTAGTGGAGAAGGAAATTC	0.478000			"""D, N, Mis, F, S"""		DLBCL								19	55					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90958458	90958458	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:90958458T>C	ENST00000265433.3	-	13	2134	c.1980A>G	c.(1978-1980)agA>agG	p.R660R	NBN_ENST00000409330.1_Silent_p.R578R	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	660					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCACCAGTGATCTAAATTCAG	0.323000								Homologous recombination					14	59					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44929264	44929264	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:44929264C>A	ENST00000296125.4	+	3	345	c.277C>A	c.(277-279)Ctt>Att	p.L93I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	93					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)	GCAGGCAACCCTTCAAAATGA	0.612000													18	59					1.33834e-09	1.84185e-09	1	1	0
KCNH1	3756	broad.mit.edu	37	1	210971016	210971016	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:210971016C>A	ENST00000367007.4	-	9	1837	c.1668G>T	c.(1666-1668)cgG>cgT	p.R556R	KCNH1_ENST00000271751.4_Silent_p.R583R	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	583					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CACTGGCCAGCCGGAAGGCCG	0.622000													36	39					9.17885e-22	1.64674e-21	1	1	0
PTGFR	5737	broad.mit.edu	37	1	78958727	78958727	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:78958727G>T	ENST00000370756.3	+	2	536	c.299G>T	c.(298-300)cGc>cTc	p.R100L	PTGFR_ENST00000370758.1_Missense_Mutation_p.R100L|PTGFR_ENST00000370757.3_Missense_Mutation_p.R100L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	100					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R100H(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GAATGGATCCGCTTTGACCAA	0.448000													6	81					3.59834e-05	4.19392e-05	1	1	0
ARHGAP24	83478	broad.mit.edu	37	4	86863276	86863276	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:86863276G>T	ENST00000395184.1	+	5	915	c.449G>T	c.(448-450)cGt>cTt	p.R150L	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R55L|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R57L|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.R150L	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	150	Rho-GAP.				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)		TATGGGAACCGTCTGGCTCCG	0.453000													10	37					1.76689e-08	2.34384e-08	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26806156	26806156	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:26806156C>T	ENST00000541819.2	-	9	1273	c.1171G>A	c.(1171-1173)Ggc>Agc	p.G391S	GABRB3_ENST00000545868.1_Missense_Mutation_p.G250S|GABRB3_ENST00000311550.5_Missense_Mutation_p.G335S|GABRB3_ENST00000400188.3_Missense_Mutation_p.G264S|GABRB3_ENST00000299267.4_Missense_Mutation_p.G335S			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	335					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)	CTTTGAGGGCCTCTTCCAAAG	0.488000													9	49					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463418	241463418	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:241463418C>A	ENST00000391987.1	-	8	1815	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	ANKMY1_ENST00000405523.3_Missense_Mutation_p.Q342H|ANKMY1_ENST00000401804.1_Missense_Mutation_p.Q572H|ANKMY1_ENST00000373318.2_Missense_Mutation_p.Q342H|ANKMY1_ENST00000405002.1_Missense_Mutation_p.Q253H|ANKMY1_ENST00000373320.4_Missense_Mutation_p.Q253H|ANKMY1_ENST00000361678.4_Missense_Mutation_p.Q342H|ANKMY1_ENST00000536462.1_Missense_Mutation_p.Q295H|ANKMY1_ENST00000272972.3_Missense_Mutation_p.Q483H|ANKMY1_ENST00000406958.1_Missense_Mutation_p.Q244H|ANKMY1_ENST00000403283.1_Missense_Mutation_p.Q421H			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	483							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCAGCATGGCCTGCGAGAGCT	0.592000													27	98					8.16721e-17	1.38302e-16	1	1	0
GPR22	2845	broad.mit.edu	37	7	107115750	107115750	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:107115750C>G	ENST00000304402.4	+	3	2588	c.1245C>G	c.(1243-1245)acC>acG	p.T415T	COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	415						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AAAAAATTACCTTTGAAGATA	0.343000													9	31					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2000343	2000343	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:2000343A>T	ENST00000262113.4	+	3	316	c.175A>T	c.(175-177)Agc>Tgc	p.S59C	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	59					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGAGCCTCCAGCCAGACGTC	0.572000													35	101					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186909147	186909147	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:186909147A>T	ENST00000367466.3	+	10	1106	c.954A>T	c.(952-954)aaA>aaT	p.K318N	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.K258N	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	318	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGAAGGAAAAAGTTAATACTG	0.373000													20	110					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132378551	132378551	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:132378551C>A	ENST00000264990.6	-	1	1016	c.45G>T	c.(43-45)ctG>ctT	p.L15L	UBA5_ENST00000264991.4_Intron|ACAD11_ENST00000481970.2_Silent_p.L15L|ACAD11_ENST00000489991.1_5'UTR|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Silent_p.L15L|UBA5_ENST00000356232.4_5'UTR	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGTGCTGGGGCAGCACTTCGG	0.607000											OREG0015804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	87					0.217242	0.220637	1	1	0
URB2	9816	broad.mit.edu	37	1	229773083	229773083	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:229773083G>T	ENST00000258243.2	+	4	2859	c.2723G>T	c.(2722-2724)aGc>aTc	p.S908I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	908						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						CAGCTGGACAGCCTCTTGCCA	0.512000													30	285					1.414e-09	1.94281e-09	1	1	0
KIF7	374654	broad.mit.edu	37	15	90176117	90176117	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:90176117C>A	ENST00000394412.3	-	14	2905	c.2829G>T	c.(2827-2829)ctG>ctT	p.L943L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	943					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTTCTTGGCCAGGATGGCCT	0.647000													3	14					0.014758	0.0155687	1	1	0
MLH3	27030	broad.mit.edu	37	14	75514922	75514922	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:75514922T>C	ENST00000355774.2	-	2	1652	c.1437A>G	c.(1435-1437)tcA>tcG	p.S479S	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Silent_p.S479S|MLH3_ENST00000556257.1_Silent_p.S479S|MLH3_ENST00000556740.1_Silent_p.S479S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	479					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)		CTCCAGCTTCTGATGCTACAA	0.378000								Mismatch excision repair (MMR)					7	48					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145643186	145643186	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:145643186G>C	ENST00000265271.5	+	14	2489	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	RBM27_ENST00000506502.1_Missense_Mutation_p.D720H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	775					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTGGAGAAGATTGCCAGGT	0.383000													10	129					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24646039	24646039	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:24646039G>T	ENST00000376862.3	+	4	1309	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	226					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCCCGGCGGGCCCTATTCCT	0.587000													28	155					1.30988e-24	2.38545e-24	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7528165	7528165	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:7528165C>A	ENST00000313599.3	-	11	2770	c.2713G>T	c.(2713-2715)Ggc>Tgc	p.G905C	CD163L1_ENST00000416109.2_Missense_Mutation_p.G915C|CD163L1_ENST00000396630.1_Missense_Mutation_p.G905C|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	905	SRCR 9.					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						TGGGATTTGCCATTCACAAGT	0.532000													7	35					1.06961e-07	1.37778e-07	1	1	0
SYBU	55638	broad.mit.edu	37	8	110631080	110631080	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:110631080C>A	ENST00000399066.3	-	2	1136	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L	SYBU_ENST00000419099.1_Missense_Mutation_p.V139L|SYBU_ENST00000528647.1_Missense_Mutation_p.V139L|SYBU_ENST00000446070.2_Missense_Mutation_p.V139L|SYBU_ENST00000276646.9_Missense_Mutation_p.V140L|SYBU_ENST00000433638.1_Missense_Mutation_p.V140L|SYBU_ENST00000533895.1_Missense_Mutation_p.V139L|SYBU_ENST00000533171.1_Missense_Mutation_p.V140L|SYBU_ENST00000532779.1_Missense_Mutation_p.V72L|SYBU_ENST00000528331.1_Missense_Mutation_p.V21L|SYBU_ENST00000408908.2_Missense_Mutation_p.V140L|SYBU_ENST00000422135.1_Missense_Mutation_p.V140L|SYBU_ENST00000533065.1_Missense_Mutation_p.V21L|SYBU_ENST00000408889.3_Missense_Mutation_p.V21L|SYBU_ENST00000424158.2_Missense_Mutation_p.V145L|SYBU_ENST00000440310.1_Missense_Mutation_p.V140L	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	140	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCTGGTTTCACAAGGCCTGAC	0.418000													33	147					2.59497e-14	4.12171e-14	1	1	0
BCHE	590	broad.mit.edu	37	3	165547998	165547998	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:165547998G>T	ENST00000264381.3	-	2	990	c.824C>A	c.(823-825)gCt>gAt	p.A275D	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	275					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)	AGTCAATTTAGCTAAGTTCAA	0.388000													6	80					0.00198382	0.00215743	1	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													4	58					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14882896	14882896	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:14882896A>T	ENST00000282096.4	+	14	3223	c.2870A>T	c.(2869-2871)aAt>aTt	p.N957I	PDE3B_ENST00000455098.2_Missense_Mutation_p.N906I	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	957	Catalytic (By similarity).				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						GGCATTGTCAATGAATTTTAT	0.413000													13	120					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53616110	53616110	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:53616110T>A	ENST00000219022.2	+	3	501	c.423T>A	c.(421-423)atT>atA	p.I141I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	141					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CTGTCCGAATTGACATCATGG	0.393000													10	68					0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122681519	122681519	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:122681519G>A	ENST00000337677.5	-	6	881	c.323C>T	c.(322-324)cCa>cTa	p.P108L	TMEM155_ENST00000394396.1_Missense_Mutation_p.P108L|TMEM155_ENST00000394394.1_Missense_Mutation_p.P108L	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	108						extracellular region				breast(1)|lung(5)	6						aaaagttattgggctgctgag	0.463000													4	11					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68251821	68251821	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:68251821T>C	ENST00000347230.4	-	19	3616	c.3478A>G	c.(3478-3480)Agc>Ggc	p.S1160G	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1160G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1160					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAAGGGTGCTGCAGTAACTG	0.527000													19	156					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6291332	6291332	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:6291332G>T	ENST00000525462.1	+	3	421	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	CCKBR_ENST00000334619.2_Missense_Mutation_p.V140L|CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.V56L			P32239	GASR_HUMAN	cholecystokinin B receptor	130					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTCTGTGAGTGTGTCCACGCT	0.602000													10	42					1.08611e-07	1.39055e-07	1	1	0
ACOT12	134526	broad.mit.edu	37	5	80631601	80631601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:80631601C>T	ENST00000307624.3	-	12	1276	c.1248G>A	c.(1246-1248)tgG>tgA	p.W416*	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	416	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AATGGGGGTCCCACAAAGGTC	0.393000													15	41					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50062266	50062266	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:50062266C>T	ENST00000335154.5	-	2	431	c.198G>A	c.(196-198)ctG>ctA	p.L66L	FMNL3_ENST00000550488.1_Silent_p.L66L|FMNL3_ENST00000352151.5_Silent_p.L66L|FMNL3_ENST00000293590.5_Silent_p.L66L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	66	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGTCACAGATCAGATCCCATT	0.552000													31	116					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639443	38639443	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:38639443C>T	ENST00000413689.1	-	14	2232	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	SCN5A_ENST00000451551.2_Missense_Mutation_p.R680H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R680H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R680H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R680H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R680H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R680H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R680H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R680H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R680H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	680			R -> H (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACACTTGTGGCGAGACTCCTC	0.507000													13	77					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166985467	166985467	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:166985467G>C	ENST00000367872.4	+	9	1098	c.854G>C	c.(853-855)tGg>tCg	p.W285S	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.W254S	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	285					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						AGGTGCAAGTGGCATGAAGAA	0.328000													33	53					0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104572912	104572912	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:104572912G>T	ENST00000369889.4	+	4	995	c.853G>T	c.(853-855)Gac>Tac	p.D285Y	WBP1L_ENST00000448841.1_Missense_Mutation_p.D306Y	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	285						integral to membrane											GGACTTCTGCGACAGCTGCCA	0.612000													14	65					1.52009e-12	2.32695e-12	1	1	0
DPF3	8110	broad.mit.edu	37	14	73181194	73181194	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:73181194C>T	ENST00000541685.1	-	6	553	c.541G>A	c.(541-543)Ggg>Agg	p.G181R	DPF3_ENST00000556509.1_Missense_Mutation_p.G181R|DPF3_ENST00000546183.1_Missense_Mutation_p.G191R|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	181					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)		CTCCTGCCCCCTGCAGAGCCG	0.602000													19	48					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112163	81112163	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:81112163C>A	ENST00000228644.3	+	2	680	c.528C>A	c.(526-528)tcC>tcA	p.S176S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	176					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTGTCTGGTCCAGAAAGAGCA	0.398000													20	165					9.04412e-07	1.12057e-06	1	1	0
MFSD9	84804	broad.mit.edu	37	2	103335097	103335097	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:103335097C>T	ENST00000258436.5	-	6	1250	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	403					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TGGGCCCCGCCCACAGTCAGC	0.657000													7	39					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24145550	24145550	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:24145550G>T	ENST00000344921.6	+	5	803	c.596G>T	c.(595-597)cGg>cTg	p.R199L	SMARCB1_ENST00000407082.3_Missense_Mutation_p.R144L|SMARCB1_ENST00000407422.3_Missense_Mutation_p.R181L|SMARCB1_ENST00000263121.7_Missense_Mutation_p.R190L			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	190	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(7)|p.V185_M193del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GTCCCCATCCGGCTGGACATG	0.582000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							22	89					9.62636e-23	1.73809e-22	1	1	0
UTRN	7402	broad.mit.edu	37	6	144812227	144812227	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:144812227G>C	ENST00000367545.3	+	31	4426	c.4426G>C	c.(4426-4428)Gac>Cac	p.D1476H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1476	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACGCACCTGGACAAGTGTAT	0.522000													14	72					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150732998	150732998	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:150732998G>T	ENST00000358849.4	+	7	1050	c.957G>T	c.(955-957)gaG>gaT	p.E319D	ABCB8_ENST00000542328.1_Missense_Mutation_p.E231D|ABCB8_ENST00000498578.1_Missense_Mutation_p.E319D|ABCB8_ENST00000477719.1_Missense_Mutation_p.E319D|ABCB8_ENST00000477092.1_Missense_Mutation_p.E319D|ABCB8_ENST00000356058.4_Missense_Mutation_p.E356D|ABCB8_ENST00000297504.6_Missense_Mutation_p.E336D	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	336	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			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)		TAGCAGACGAGGCCCTGGGCA	0.612000													6	55					2.7689e-08	3.6501e-08	1	1	0
RAF1	5894	broad.mit.edu	37	3	12645693	12645693	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:12645693G>A	ENST00000251849.4	-	7	1215	c.776C>T	c.(775-777)tCc>tTc	p.S259F	RAF1_ENST00000442415.2_Missense_Mutation_p.S259F|RAF1_ENST00000542177.1_Missense_Mutation_p.S178F|RAF1_ENST00000534997.1_Missense_Mutation_p.S44F	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	259			S -> A (in an ovarian serous carcinoma sample; somatic mutation).|S -> F (in NS5).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATTAGGTGTGGATGTCGACCT	0.517000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				6	76					0	0	1	0	0
CENPH	64946	broad.mit.edu	37	5	68505620	68505620	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:68505620G>T	ENST00000283006.2	+	9	825	c.738G>T	c.(736-738)atG>atT	p.M246I	CENPH_ENST00000515001.1_Missense_Mutation_p.M227I	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN	centromere protein H	246					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		ATGTTGACATGATGTAATAAG	0.353000													8	22					3.86212e-05	4.47667e-05	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43770389	43770389	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:43770389G>T	ENST00000389420.3	-	33	5062	c.5063C>A	c.(5062-5064)tCc>tAc	p.S1688Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1688	TSP type-1 15.					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)		TAAGTCACTGGACAAACCATG	0.348000													8	25					0.0477658	0.049707	1	1	0
TUB	7275	broad.mit.edu	37	11	8060537	8060537	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:8060537G>T	ENST00000305253.4	+	1	358	c.117G>T	c.(115-117)agG>agT	p.R39S	RP11-236J17.6_ENST00000526646.1_RNA|RP11-236J17.6_ENST00000528151.1_RNA|TUB_ENST00000534099.1_Intron	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCAGCACAGGAAACCTGGGC	0.557000													5	57					2.0095e-06	2.46091e-06	1	1	0
FAM186B	84070	broad.mit.edu	37	12	49994704	49994704	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:49994704A>G	ENST00000544141.1	-	4	1048	c.449T>C	c.(448-450)gTg>gCg	p.V150A	FAM186B_ENST00000257894.2_Missense_Mutation_p.V240A|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	240						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGTTCTCCACCACAGTGGC	0.572000													4	24					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641604	179641604	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179641604G>A	ENST00000589042.1	-	28	5211	c.4987C>T	c.(4987-4989)Cca>Tca	p.P1663S	TTN_ENST00000360870.5_Missense_Mutation_p.P1663S|TTN_ENST00000591111.1_Missense_Mutation_p.P1663S|TTN_ENST00000460472.2_Missense_Mutation_p.P1617S|TTN_ENST00000359218.5_Missense_Mutation_p.P1617S|TTN_ENST00000342992.6_Missense_Mutation_p.P1663S|TTN_ENST00000342175.6_Missense_Mutation_p.P1617S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1407							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)			GTCCCCCGTGGGATGATTAAC	0.468000													14	46					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361545	51361545	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:51361545G>T	ENST00000360617.3	+	3	467	c.467G>T	c.(466-468)gGc>gTc	p.G156V	KLK3_ENST00000595952.1_Missense_Mutation_p.G113V|KLK3_ENST00000326003.2_Missense_Mutation_p.G156V|KLK3_ENST00000593997.1_Missense_Mutation_p.G156V|KLK3_ENST00000597483.1_Missense_Mutation_p.G113V			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	156	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TACGCCTCAGGCTGGGGCAGC	0.657000													8	30					2.17888e-05	2.55361e-05	1	1	0
TMEM104	54868	broad.mit.edu	37	17	72832430	72832430	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:72832430C>T	ENST00000335464.5	+	10	1257	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	TMEM104_ENST00000582330.1_Silent_p.I365I|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	365						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCTTCACCATCAGCACCAACT	0.627000													24	279					0	0	1	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410681	32410681	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:32410681C>A	ENST00000382822.2	-	1	114	c.82G>T	c.(82-84)Ggc>Tgc	p.G28C		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	28						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						CTGCCATAGCCGCAGCCATAG	0.537000													26	146					3.65163e-15	5.99151e-15	1	1	0
INTS7	25896	broad.mit.edu	37	1	212180034	212180034	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:212180034G>A	ENST00000366994.3	-	7	930	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	INTS7_ENST00000366992.3_Silent_p.L276L|INTS7_ENST00000440600.2_Silent_p.L227L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.L276L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	276					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		AGTAATTTCAGATCTTGAATA	0.313000													5	76					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128171	117128171	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:117128171C>T	ENST00000310357.3	-	3	718	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	GPRC6A_ENST00000530250.1_Missense_Mutation_p.E233K|GPRC6A_ENST00000368549.3_Missense_Mutation_p.E233K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	233					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTATTTGCTTCAGCCTGAATT	0.403000													6	56					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205495550	205495550	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:205495550C>T	ENST00000360066.2	+	7	928	c.627C>T	c.(625-627)atC>atT	p.I209I	CDK18_ENST00000506784.1_Silent_p.I239I|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.I209I	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	207	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ATGACCTCATCCACACAGATC	0.587000													9	271					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57025614	57025614	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:57025614C>A	ENST00000311923.1	-	1	927	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	310	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGCGCTGCCCGGGGAGCGAG	0.687000													4	27					1.23904e-05	1.46227e-05	1	1	0
C8B	732	broad.mit.edu	37	1	57420395	57420395	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:57420395A>G	ENST00000543257.1	-	5	907	c.341T>C	c.(340-342)aTg>aCg	p.M114T	C8B_ENST00000371237.4_Missense_Mutation_p.M166T|C8B_ENST00000535057.1_Missense_Mutation_p.M104T	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	166	TSP type-1 1.				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						GTATTGGTCCATTTCATGCTG	0.448000													12	88					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71576284	71576284	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:71576284G>T	ENST00000304743.2	+	35	7306	c.6860G>T	c.(6859-6861)aGt>aTt	p.S2287I	PCNX_ENST00000439984.3_Missense_Mutation_p.S2176I|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.S2215I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2287						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)		AAAGACTGGAGTCCGCAGGAG	0.488000													5	45					0.000274275	0.000306564	1	1	0
MAP2	4133	broad.mit.edu	37	2	210560504	210560504	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:210560504A>T	ENST00000360351.4	+	7	4116	c.3610A>T	c.(3610-3612)Agc>Tgc	p.S1204C	MAP2_ENST00000447185.1_Missense_Mutation_p.S1200C|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1204					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)	AAAAGAAGAAAGCAAAGAGAC	0.463000													5	21					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281967	152281967	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152281967C>T	ENST00000368799.1	-	3	5430	c.5395G>A	c.(5395-5397)Gac>Aac	p.D1799N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1799	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)			CTGGAGCTGTCTCGTGCCTGC	0.602000									Ichthyosis				35	544					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869373	201869373	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:201869373T>C	ENST00000367288.4	-	2	1014	c.768A>G	c.(766-768)aaA>aaG	p.K256K		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	256	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTTCCTCTTTTTACCTTCT	0.433000													9	25					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42734344	42734344	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:42734344T>A	ENST00000441594.1	-	12	1675	c.1414A>T	c.(1414-1416)Atc>Ttc	p.I472F	HHATL_ENST00000310417.5_Missense_Mutation_p.I472F	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	472					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACAAACAGGATGGACAGCGTG	0.582000													4	54					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509543	171509543	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:171509543G>A	ENST00000367742.3	+	16	3180	c.2938G>A	c.(2938-2940)Gga>Aga	p.G980R	PRRC2C_ENST00000392078.3_Missense_Mutation_p.G980R|PRRC2C_ENST00000426496.2_Missense_Mutation_p.G978R|PRRC2C_ENST00000338920.4_Missense_Mutation_p.G978R			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	978							protein C-terminus binding										ATCTTCTGAAGGACCAAAACC	0.403000													6	6					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80634702	80634702	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:80634702A>C	ENST00000369816.4	-	3	636	c.336T>G	c.(334-336)agT>agG	p.S112R		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	112					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AATAATCCACACTCTGGCAAA	0.308000													9	53					0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39967431	39967431	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:39967431C>A	ENST00000355468.3	-	3	1034	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	LEPREL4_ENST00000393928.1_Missense_Mutation_p.D190Y			Q92791	SC65_HUMAN	leprecan-like 4	190					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCGGCGACGTCCAGCATCCCC	0.642000													36	317					1.91693e-13	2.98857e-13	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15559227	15559227	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:15559227C>A	ENST00000378076.3	-	30	3475	c.3122G>T	c.(3121-3123)aGa>aTa	p.R1041I		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	1041					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						AGGTCTGGCTCTGTCAAAGAA	0.433000													9	35					4.68919e-08	6.09595e-08	1	1	0
TENM4	26011	broad.mit.edu	37	11	78412943	78412943	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:78412943G>T	ENST00000278550.7	-	28	5177	c.4715C>A	c.(4714-4716)aCc>aAc	p.T1572N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CATGTTCTGGGTGTTGAGGAA	0.527000													25	70					1.39806e-14	2.2545e-14	1	1	0
NCF1	653361	broad.mit.edu	37	7	74197923	74197923	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:74197923C>T	ENST00000289473.4	+	7	700	c.630C>T	c.(628-630)ctC>ctT	p.L210L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	210	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						CGTCCTTCCTCGAGCCCCTGG	0.637000													4	76					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31282309	31282309	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:31282309G>T	ENST00000544665.3	+	6	533	c.462G>T	c.(460-462)ttG>ttT	p.L154F	ITGAM_ENST00000287497.8_Missense_Mutation_p.L154F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	154	VWFA.				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						TTGCCTTCTTGATTGATGGCT	0.433000													36	205					2.00842e-17	3.4216e-17	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5810940	5810940	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:5810940T>A	ENST00000381095.3	-	6	2996	c.2369A>T	c.(2368-2370)cAg>cTg	p.Q790L	NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q790L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q790L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q790L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q810L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	790					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						GTGCAAAGGCTGCATCCCCGT	0.507000													14	34					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117284	37117284	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:37117284G>C	ENST00000435416.1	+	3	1977	c.482G>C	c.(481-483)gGt>gCt	p.G161A	ZNF382_ENST00000439428.1_Missense_Mutation_p.G161A|ZNF382_ENST00000292928.2_Missense_Mutation_p.G162A|ZNF382_ENST00000423582.1_Missense_Mutation_p.G113A			Q96SR6	ZN382_HUMAN	zinc finger protein 382	162	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGAAGTTTGGTGACAGTACT	0.343000													25	102					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19573416	19573416	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:19573416G>T	ENST00000341998.2	-	6	1341	c.1280C>A	c.(1279-1281)tCc>tAc	p.S427Y	SLC24A2_ENST00000286344.3_Missense_Mutation_p.S410Y	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	427					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)		AGCATCACTGGATGGTGTCAT	0.433000													20	74					1.96895e-08	2.60778e-08	1	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542000													4	101					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389037	38389037	+	RNA	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:38389037G>C	ENST00000390344.2	-	0	470																											TCCACCTCCTGGGTGTATGAG	0.468000													12	69					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001766	98001766	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:98001766C>T	ENST00000355273.2	+	1	35	c.35C>T	c.(34-36)aCa>aTa	p.T12I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GATAATACAACATTGCTGACA	0.408000													24	130					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560930	44560930	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:44560930G>T	ENST00000332567.4	-	1	1058	c.706C>A	c.(706-708)Ccc>Acc	p.P236T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	236				P -> L (in Ref. 1; BAA90665).	regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCACACAAGGGGCGTTTTTCC	0.617000													7	20					5.18039e-06	6.24455e-06	1	1	0
FAM198B	51313	broad.mit.edu	37	4	159091673	159091673	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:159091673G>T	ENST00000296530.8	-	2	1476	c.855C>A	c.(853-855)atC>atA	p.I285I	FAM198B_ENST00000393807.5_Silent_p.I285I|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Silent_p.I285I|FAM198B_ENST00000585682.1_Silent_p.I285I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	285						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGAGCCCCAGGATCCTGTCTA	0.567000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	73					1.22574e-08	1.64928e-08	1	1	0
TEX14	56155	broad.mit.edu	37	17	56663276	56663276	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:56663276C>G	ENST00000389934.3	-	18	3073	c.2956G>C	c.(2956-2958)Gag>Cag	p.E986Q	TEX14_ENST00000240361.8_Missense_Mutation_p.E992Q|TEX14_ENST00000349033.5_Missense_Mutation_p.E986Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	992						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)					CTATGATACTCAATAACTCGC	0.527000													4	113					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744758	154744758	+	Nonsense_Mutation	SNP	C	C	A	rs76610518	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:154744758C>A	ENST00000271915.3	-	3	1456	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	KCNN3_ENST00000361147.4_Nonsense_Mutation_p.E76*|KCNN3_ENST00000358505.2_Nonsense_Mutation_p.E68*	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	386						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)			AACTTGTACTCGCCAGGAATG	0.607000													5	52					0.014758	0.0155687	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248366722	248366722	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248366722T>A	ENST00000456743.1	+	1	391	c.353T>A	c.(352-354)aTg>aAg	p.M118K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	118					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)			TTGGCTGTTATGGCTTATGAC	0.453000													45	285					0	0	1	0	0
PDDC1	347862	broad.mit.edu	37	11	773602	773602	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:773602G>C	ENST00000319863.8	-	4	296	c.275C>G	c.(274-276)cCc>cGc	p.P92R	PDDC1_ENST00000397472.2_Missense_Mutation_p.P92R|PDDC1_ENST00000526325.1_Missense_Mutation_p.P92R|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000442059.2_Missense_Mutation_p.P42R	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	92						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGACAGCTGGGGATCAGGAG	0.647000													7	21					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746718	77746718	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:77746718C>G	ENST00000409088.3	-	3	691	c.277G>C	c.(277-279)Gac>Cac	p.D93H	LRRTM4_ENST00000409093.1_Missense_Mutation_p.D93H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.D94H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D93H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D94H	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	93						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAATTATGGTCAAGATAAAGC	0.388000													9	47					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835477	38835477	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:38835477C>T	ENST00000449082.2	-	1	24	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	9					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGTTAGTTTCGAGGGATCCA	0.453000													18	130					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721820	198721820	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:198721820T>C	ENST00000367376.2	+	31	3593	c.3422T>C	c.(3421-3423)gTc>gCc	p.V1141A	PTPRC_ENST00000594404.1_Missense_Mutation_p.V980A|PTPRC_ENST00000442510.2_Missense_Mutation_p.V1143A|PTPRC_ENST00000352140.3_Missense_Mutation_p.V1093A|PTPRC_ENST00000348564.6_Missense_Mutation_p.V982A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1141	Tyrosine-protein phosphatase 2.				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						ATGATTCAGGTCGTCAAACAA	0.448000													19	34					0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45904472	45904472	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:45904472C>A	ENST00000290208.7	-	3	803	c.351G>T	c.(349-351)gaG>gaT	p.E117D	MRPL10_ENST00000414011.1_Missense_Mutation_p.E117D|MRPL10_ENST00000351111.2_Missense_Mutation_p.E107D			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	107					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GAAGCTTGTCCTCTGCACTCA	0.557000													18	104					3.62473e-10	5.13048e-10	1	1	0
AMZ2	51321	broad.mit.edu	37	17	66247216	66247216	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:66247216G>T	ENST00000359904.3	+	4	1615	c.483G>T	c.(481-483)aaG>aaT	p.K161N	AMZ2_ENST00000580753.1_Missense_Mutation_p.K161N|AMZ2_ENST00000577273.1_Missense_Mutation_p.K161N|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000577866.1_Missense_Mutation_p.K161N|AMZ2_ENST00000359783.4_Missense_Mutation_p.K103N|AMZ2_ENST00000577985.1_Missense_Mutation_p.K161N|AMZ2_ENST00000392720.2_Missense_Mutation_p.K161N	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	161							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTTGAAAAAGAAGAAACCTG	0.358000													4	27					1	1	1	1	0
OR52N2	390077	broad.mit.edu	37	11	5841574	5841574	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:5841574G>T	ENST00000317037.2	+	1	31	c.9G>T	c.(7-9)ggG>ggT	p.G3G	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGTCTGGGGACAACAGCT	0.502000													6	91					0.00198382	0.00215743	1	1	0
NTAN1	123803	broad.mit.edu	37	16	15141948	15141948	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:15141948G>T	ENST00000287706.3	-	2	182	c.90C>A	c.(88-90)gcC>gcA	p.A30A	PDXDC1_ENST00000535621.2_Intron	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	30						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						TGAGAAGTCTGGCTCTTTCCT	0.438000													23	56					1.22574e-08	1.64928e-08	1	1	0
ISLR2	57611	broad.mit.edu	37	15	74426764	74426764	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:74426764G>T	ENST00000361742.3	+	4	2438	c.1669G>T	c.(1669-1671)Ggc>Tgc	p.G557C	ISLR2_ENST00000565159.1_Missense_Mutation_p.G557C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.G557C|ISLR2_ENST00000445793.1_Missense_Mutation_p.G557C|ISLR2_ENST00000419208.1_Missense_Mutation_p.G557C|ISLR2_ENST00000435464.1_Missense_Mutation_p.G557C|ISLR2_ENST00000565540.1_Missense_Mutation_p.G557C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	557					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTGGTTCCGCGGCCTGCGGCC	0.677000													4	5					1	1	1	1	0
DAP	1611	broad.mit.edu	37	5	10681215	10681215	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:10681215T>A	ENST00000230895.6	-	4	465	c.262A>T	c.(262-264)Aag>Tag	p.K88*	DAP_ENST00000432074.2_Silent_p.T73T	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	88					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding			endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				GAAGGATGCTTGTCCATGGAG	0.597000													4	17					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073227	134073227	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:134073227C>A	ENST00000264360.4	+	1	2758	c.1932C>A	c.(1930-1932)gtC>gtA	p.V644V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACGCCGAGTCCCGGCCAAGC	0.667000													18	47					1.15919e-05	1.37765e-05	1	1	0
CHST8	64377	broad.mit.edu	37	19	34263536	34263536	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:34263536G>A	ENST00000262622.3	+	4	1601	c.843G>A	c.(841-843)ccG>ccA	p.P281P	CHST8_ENST00000438847.2_Silent_p.P281P|CHST8_ENST00000434302.1_Silent_p.P281P	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	281					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)					ACTATCACCCGGTCTTCGGCA	0.632000													22	83					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7683904	7683904	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:7683904G>A	ENST00000256861.6	-	3	363	c.285C>T	c.(283-285)atC>atT	p.I95I	ITIH5_ENST00000397145.2_Silent_p.I95I|ITIH5_ENST00000397146.2_Silent_p.I95I|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	95	VIT.				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						TGAAGTTGGTGATGAAAGCTG	0.507000													6	103					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													3	73					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173333936	173333936	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:173333936G>T	ENST00000375221.2	+	4	674	c.471G>T	c.(469-471)ctG>ctT	p.L157L	ITGA6_ENST00000264107.7_Silent_p.L157L|ITGA6_ENST00000409080.1_Silent_p.L157L|ITGA6_ENST00000409532.1_Silent_p.L43L|ITGA6_ENST00000264106.6_Silent_p.L157L|ITGA6_ENST00000343713.4_Silent_p.L157L			P23229	ITA6_HUMAN	integrin, alpha 6	157					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GTTATGTCCTGAGTCAGAATC	0.478000													36	98					4.14481e-20	7.31182e-20	1	1	0
PICK1	9463	broad.mit.edu	37	22	38465057	38465057	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:38465057C>T	ENST00000404072.3	+	6	714	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	PICK1_ENST00000356976.3_Missense_Mutation_p.H123Y|PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	123					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GAAAGTCAAGCACCGGCTGGT	0.627000													4	22					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136238	64136238	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:64136238C>A	ENST00000395254.3	+	2	566	c.286C>A	c.(286-288)Ccg>Acg	p.P96T	ZNF365_ENST00000410046.3_Missense_Mutation_p.P96T|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Missense_Mutation_p.P96T	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	55										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)					AAAGCAGAAACCGAGCTATGT	0.483000													15	62					2.31682e-05	2.71152e-05	1	1	0
RCBTB1	55213	broad.mit.edu	37	13	50123718	50123718	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:50123718C>A	ENST00000378302.2	-	9	1181	c.921G>T	c.(919-921)gtG>gtT	p.V307V	RCBTB1_ENST00000258646.3_Silent_p.V307V|RCBTB1_ENST00000546015.1_Silent_p.V307V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	307					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|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;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CCCACATGTACACGTGCCCAC	0.577000													10	61					4.93089e-13	7.64514e-13	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49764838	49764838	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:49764838C>A	ENST00000561648.1	-	3	174	c.121G>T	c.(121-123)Gcg>Tcg	p.A41S	ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000262383.2_Missense_Mutation_p.A41S|ZNF423_ENST00000562871.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	41					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTTCCAGCGCACGGCTGGTT	0.502000													28	213					1.08312e-15	1.8052e-15	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58190216	58190216	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:58190216G>A	ENST00000318203.5	+	5	1942	c.1245G>A	c.(1243-1245)atG>atA	p.M415I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	415					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCGCCATATGAGGACTCATG	0.453000													9	73					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575482	179575482	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179575482G>T	ENST00000589042.1	-	98	28566	c.28342C>A	c.(28342-28344)Ctg>Atg	p.L9448M	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L9131M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8204M|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9131	Ig-like 77.						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)			CTGTTTTCCAGATAACTAATC	0.478000													13	65					4.3838e-07	5.49601e-07	1	1	0
CCDC116	164592	broad.mit.edu	37	22	21991000	21991000	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:21991000C>T	ENST00000292779.3	+	5	1644	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	495										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGAGACCCACCGGAGCTGCCT	0.622000													17	68					0	0	1	0	0
PREB	10113	broad.mit.edu	37	2	27354694	27354694	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:27354694G>A	ENST00000260643.2	-	8	1258	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	PREB_ENST00000406567.3_Silent_p.L277L	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	335					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACGTAGTAGAGGCACTGTG	0.562000													6	149					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903076	5903076	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:5903076C>A	ENST00000378961.4	+	4	490	c.286C>A	c.(286-288)Cac>Aac	p.H96N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	96						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						CTCGGAAGCCCACGAGTCCTC	0.517000													11	38					1.08611e-07	1.39055e-07	1	1	0
CDK6	1021	broad.mit.edu	37	7	92244469	92244469	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:92244469C>A	ENST00000265734.4	-	8	1377	c.966G>T	c.(964-966)gaG>gaT	p.E322D	CDK6_ENST00000424848.2_Missense_Mutation_p.E322D	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	322					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)			CTGTATTCAGCTCCGAGGTGT	0.577000			T	MLLT10	ALL								12	27					1.05317e-09	1.4613e-09	1	1	0
FAM136A	84908	broad.mit.edu	37	2	70524579	70524579	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:70524579T>A	ENST00000037869.3	-	3	337	c.259A>T	c.(259-261)Aac>Tac	p.N87Y	FAM136A_ENST00000430566.1_Missense_Mutation_p.N194Y|FAM136A_ENST00000450256.1_3'UTR	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	87						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCTTTGTCGTTGCAATGCATG	0.507000													20	80					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57073725	57073725	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:57073725C>G	ENST00000436936.1	+	16	3059	c.2834C>G	c.(2833-2835)gCc>gGc	p.A945G	NLRC5_ENST00000308149.7_Missense_Mutation_p.A945G|NLRC5_ENST00000539144.1_Missense_Mutation_p.A945G|NLRC5_ENST00000262510.6_Missense_Mutation_p.A945G			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	945					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)				TTCATGTTTGCCCAGGAGCCA	0.532000													25	129					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122387356	122387356	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:122387356G>T	ENST00000264357.5	+	3	763	c.471G>T	c.(469-471)aaG>aaT	p.K157N	GRIA3_ENST00000541091.1_Missense_Mutation_p.K141N|GRIA3_ENST00000371251.1_Missense_Mutation_p.K157N|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000542149.1_Missense_Mutation_p.K157N|GRIA3_ENST00000371256.5_Missense_Mutation_p.K157N	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	157					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)	GTCATTACAAGTGGGAGAAGT	0.478000													21	31					1.66031e-10	2.36986e-10	1	1	0
ZNF165	7718	broad.mit.edu	37	6	28053504	28053504	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:28053504C>T	ENST00000377325.1	+	2	802	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	82	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCCAGAGATCCATACCAAGG	0.557000													4	37					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225639826	225639826	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:225639826G>T	ENST00000409592.3	-	52	5904	c.5791C>A	c.(5791-5793)Ccc>Acc	p.P1931T	DOCK10_ENST00000258390.7_Missense_Mutation_p.P1937T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1937	DHR-2.						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)		AAATCCTTGGGGTTTACCTGT	0.502000													7	21					0.00198382	0.00215743	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169507231	169507231	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:169507231A>T	ENST00000256935.8	+	50	5311	c.5231A>T	c.(5230-5232)aAg>aTg	p.K1744M	DOCK2_ENST00000540750.1_Missense_Mutation_p.K805M|DOCK2_ENST00000520908.1_Missense_Mutation_p.K1236M|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1744					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCCCCTCAAGGCGTCTGTC	0.557000													22	48					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177242683	177242683	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:177242683C>T	ENST00000361539.4	+	5	1041	c.729C>T	c.(727-729)gtC>gtT	p.V243V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		243						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGGACTCAGTCAGTTCTGTCT	0.443000													11	54					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854847	67854847	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:67854847C>A	ENST00000388833.3	+	3	468	c.91C>A	c.(91-93)Cga>Aga	p.R31R	TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Silent_p.R85R	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	31					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CTACCGGAAGCGAGTAGGGTA	0.592000													48	165					1.89013e-27	3.47208e-27	1	1	0
NF1	4763	broad.mit.edu	37	17	29663414	29663414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:29663414G>T	ENST00000358273.4	+	41	6453	c.6070G>T	c.(6070-6072)Gga>Tga	p.G2024*	NF1_ENST00000356175.3_Nonsense_Mutation_p.G2003*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2024					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)		AGGTGGCTTGGGATCAATAAA	0.383000			"""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)			10	69					1.61879e-10	2.32632e-10	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84651838	84651838	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:84651838T>G	ENST00000284136.6	-	11	1326	c.1283A>C	c.(1282-1284)tAt>tCt	p.Y428S	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	428	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TACGGACTTATACATCACAGA	0.428000													25	193					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687738	60687738	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:60687738T>C	ENST00000335712.6	-	4	2536	c.2309A>G	c.(2308-2310)tAt>tGt	p.Y770C	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.Y736C|BCL11A_ENST00000538214.1_Missense_Mutation_p.Y736C|BCL11A_ENST00000356842.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	770					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)			CTCGCATTTATAAGGCCTTTC	0.522000			T	IGH@	B-CLL								14	68					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004379	42004379	+	Missense_Mutation	SNP	G	G	T	rs144128064		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:42004379G>T	ENST00000395925.3	-	15	4376	c.4292C>A	c.(4291-4293)cCg>cAg	p.P1431Q	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1431					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						AGAGCACAGCGGATGGGGCTG	0.512000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				17	132					1.5739e-10	2.2773e-10	1	1	0
GPR139	124274	broad.mit.edu	37	16	20043438	20043438	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:20043438G>T	ENST00000570682.1	-	2	981	c.681C>A	c.(679-681)acC>acA	p.T227T		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	227						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						ACAAGATGGCGGTGGTCTTCC	0.522000													10	84					6.72482e-11	9.83127e-11	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88576128	88576128	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:88576128C>A	ENST00000394480.1	-	14	1866	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	NTRK3_ENST00000317501.3_Missense_Mutation_p.Q515H|NTRK3_ENST00000558676.1_Missense_Mutation_p.Q507H|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q417H|NTRK3_ENST00000360948.2_Missense_Mutation_p.Q515H|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q507H|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q507H|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q515H|NTRK3_ENST00000540489.2_Missense_Mutation_p.Q515H|NTRK3_ENST00000558306.1_5'UTR	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	515					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACGGAAGTACTGGGGGTTCT	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			6	55					2.7689e-08	3.6501e-08	1	1	0
KRT85	3891	broad.mit.edu	37	12	52757119	52757119	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:52757119T>C	ENST00000257901.3	-	5	937	c.862A>G	c.(862-864)Atg>Gtg	p.M288V	KRT85_ENST00000544265.1_Missense_Mutation_p.M76V	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	288	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGCAGTCCATGTTCAGGTCT	0.577000													9	54					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22874895	22874895	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:22874895G>T	ENST00000251822.6	+	10	2634	c.2097G>T	c.(2095-2097)cgG>cgT	p.R699R	RHOBTB2_ENST00000522948.1_Silent_p.R706R|RHOBTB2_ENST00000519685.1_Silent_p.R721R|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	699					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGCCCAAACGGCGTTGGCTCT	0.612000													7	33					0.0381472	0.0398448	1	1	0
SLC4A11	83959	broad.mit.edu	37	20	3211846	3211846	+	Silent	SNP	G	G	T	rs138137682	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:3211846G>T	ENST00000380059.3	-	9	1221	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R	SLC4A11_ENST00000380056.3_Silent_p.R347R|SLC4A11_ENST00000539553.1_Silent_p.R331R|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	347					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						ATGTCCTCCCGGATGCCCTTC	0.632000													18	89					1.40151e-16	2.35443e-16	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125555898	125555898	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:125555898G>T	ENST00000431078.1	+	19	3578		c.e19+1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1072V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCAAGAATGGTGAGTGTGAT	0.502000													4	22					0.00909568	0.00966774	1	1	0
KLHL42	57542	broad.mit.edu	37	12	27944681	27944681	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:27944681G>T	ENST00000381271.2	+	2	1224	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S		NM_020782.1	NP_065833.1			kelch-like family member 42																		AAAACTCTATGCCATCGGAGG	0.468000													50	141					8.28887e-21	1.46836e-20	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140433173	140433173	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:140433173C>T	ENST00000306549.3	+	1	2195	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		706					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)			TCCTCTCTGTCATAGTGATCT	0.348000													7	85					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30762169	30762169	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:30762169C>T	ENST00000405659.1	+	3	889	c.180C>T	c.(178-180)gaC>gaT	p.D60D	CCDC157_ENST00000338306.3_Silent_p.D60D|CCDC157_ENST00000399824.2_Silent_p.D60D			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	60										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AGCACTATGACCATGTTCCGG	0.637000													27	179					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4872896	4872896	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:4872896G>A	ENST00000298375.7	+	2	140	c.69G>A	c.(67-69)gtG>gtA	p.V23V	AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Silent_p.V23V|AKR1E2_ENST00000334019.4_Silent_p.V23V|AKR1E2_ENST00000532248.1_Silent_p.V23V	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	23						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CCGAGGCAGTGAAAGAGGCCA	0.502000													7	87					0	0	1	0	0
MIF4GD	57409	broad.mit.edu	37	17	73263692	73263692	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:73263692A>T	ENST00000577542.1	-	6	753	c.491T>A	c.(490-492)aTg>aAg	p.M164K	MIF4GD_ENST00000579297.1_Missense_Mutation_p.M164K|MIF4GD_ENST00000579119.1_Missense_Mutation_p.M123K|MIF4GD_ENST00000325102.8_Missense_Mutation_p.M123K|MIF4GD_ENST00000245551.5_Missense_Mutation_p.M157K|MIF4GD_ENST00000580571.1_Missense_Mutation_p.M71K|MIF4GD_ENST00000578305.1_Missense_Mutation_p.D34E			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	123	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CACCAGGGCCATCATGGGCAT	0.617000													20	87					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68873314	68873314	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:68873314G>A	ENST00000303786.3	+	2	781	c.361G>A	c.(361-363)Gac>Aac	p.D121N	PROKR1_ENST00000394342.2_Missense_Mutation_p.D121N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	121						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTTGAGATGGACTACTATGT	0.577000													32	180					0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110074006	110074006	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:110074006A>G	ENST00000358015.3	+	5	892	c.541A>G	c.(541-543)Acg>Gcg	p.T181A	RAD23B_ENST00000416373.2_Missense_Mutation_p.T109A	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	181					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGAAGATGCAACGAGTGCACT	0.289000								Direct reversal of damage;Nucleotide excision repair (NER)					6	28					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32157624	32157624	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:32157624C>A	ENST00000373672.3	-	17	1755	c.1239G>T	c.(1237-1239)ccG>ccT	p.P413P	COL16A1_ENST00000271069.6_Silent_p.P413P|COL16A1_ENST00000373668.3_Silent_p.P413P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	413	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGCTTTCCCGGCACGCCCT	0.637000													14	122					1.52009e-12	2.32695e-12	1	1	0
DYSF	8291	broad.mit.edu	37	2	71780294	71780294	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:71780294C>G	ENST00000258104.3	+	20	2183	c.1906C>G	c.(1906-1908)Cag>Gag	p.Q636E	DYSF_ENST00000409744.1_Missense_Mutation_p.Q623E|DYSF_ENST00000410020.3_Missense_Mutation_p.Q654E|DYSF_ENST00000429174.2_Missense_Mutation_p.Q636E|DYSF_ENST00000413539.2_Missense_Mutation_p.Q667E|DYSF_ENST00000410041.1_Missense_Mutation_p.Q654E|DYSF_ENST00000409651.1_Missense_Mutation_p.Q668E|DYSF_ENST00000409582.3_Missense_Mutation_p.Q653E|DYSF_ENST00000409366.1_Missense_Mutation_p.Q637E|DYSF_ENST00000394120.2_Missense_Mutation_p.Q637E|DYSF_ENST00000409762.1_Missense_Mutation_p.Q653E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	636						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						CTCCACCACTCAGTACAGCCG	0.592000													6	132					0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120606714	120606714	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:120606714G>T	ENST00000315870.5	+	6	547	c.399G>T	c.(397-399)gtG>gtT	p.V133V	ING3_ENST00000431467.1_Silent_p.V118V	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	133					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CACAGCCAGTGAACAATCACC	0.388000													41	104					3.7469e-33	7.00471e-33	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31318412	31318412	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:31318412C>A	ENST00000542188.1	-	26	3923	c.3610G>T	c.(3610-3612)Gag>Tag	p.E1204*	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Nonsense_Mutation_p.E1187*|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.E1165*|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1165					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CGGAAGTGCTCCTGCACGCAC	0.592000													3	35					0.115264	0.118489	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179504063	179504063	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:179504063G>T	ENST00000367618.3	+	25	3384	c.2997G>T	c.(2995-2997)agG>agT	p.R999S		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	999	Glu-rich.									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						aagaagTCAGGTCAGCAGAAA	0.343000													5	51					0.0215528	0.0225956	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248344072	248344072	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248344072C>A	ENST00000359682.2	+	1	785	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	262					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)			TACATACGGCCCACATCTGAT	0.517000													30	259					1.26612e-14	2.04564e-14	1	1	0
SH3TC1	54436	broad.mit.edu	37	4	8229062	8229062	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:8229062G>T	ENST00000539824.1	+	12	1787	c.1413G>T	c.(1411-1413)cgG>cgT	p.R471R	SH3TC1_ENST00000245105.3_Silent_p.R547R|SH3TC1_ENST00000514274.1_3'UTR			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	547							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CACAGGCCCGGGGGGCGGCCA	0.701000													3	8					0.115264	0.118489	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55451341	55451341	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:55451341G>T	ENST00000588756.1	-	6	1332	c.846C>A	c.(844-846)ctC>ctA	p.L282L	NLRP7_ENST00000448121.2_Silent_p.L282L|NLRP7_ENST00000592784.1_Silent_p.L282L|NLRP7_ENST00000590030.1_Silent_p.L282L|NLRP7_ENST00000340844.2_Silent_p.L282L|NLRP7_ENST00000328092.5_Silent_p.L282L|NLRP7_ENST00000446217.1_Silent_p.L310L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	282	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)		AACTCCCCAGGAGGACGGGCA	0.632000													7	54					1.76689e-08	2.34384e-08	1	1	0
AASS	10157	broad.mit.edu	37	7	121766473	121766473	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:121766473C>A	ENST00000393376.1	-	3	523	c.428G>T	c.(427-429)aGa>aTa	p.R143I	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.R143I			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	143	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCGTACTCCTCTATGATCCAC	0.413000													47	295					1.51943e-15	2.52739e-15	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114186078	114186078	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:114186078G>A	ENST00000297405.5	-	4	826	c.582C>T	c.(580-582)ttC>ttT	p.F194F	CSMD3_ENST00000343508.3_Silent_p.F154F|CSMD3_ENST00000352409.3_Silent_p.F194F|CSMD3_ENST00000455883.2_Silent_p.F194F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	194	Sushi 1.					integral to membrane|plasma membrane		p.F194F(1)		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						CCCCGACGTCGAATCTTGTGC	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	77					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832540	24832540	+	Missense_Mutation	SNP	C	C	G	rs140457046	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:24832540C>G	ENST00000376451.2	+	14	3650	c.3390C>G	c.(3388-3390)ttC>ttG	p.F1130L	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.F1447L			Q5T5P2	SKT_HUMAN	KIAA1217	1447					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						TCATCATTTTCGATGAGCCCA	0.443000													20	68					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538871	56538871	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:56538871C>A	ENST00000390649.3	+	7	1272	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	424	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)		TCGTGTCTCCCCGTTACCTGT	0.552000													4	27					0.217242	0.220637	1	1	0
NPTX2	4885	broad.mit.edu	37	7	98249103	98249103	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:98249103C>T	ENST00000265634.3	+	2	740	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	192					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AATGAGACCTCGGCTCACCGG	0.652000													3	41					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651491	96651491	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:96651491C>A	ENST00000302103.5	+	3	786	c.460C>A	c.(460-462)Ctg>Atg	p.L154M		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	154					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)		CTTGTTTAACCTGACTCTGAC	0.463000													10	39					7.03913e-09	9.54745e-09	1	1	0
RYR3	6263	broad.mit.edu	37	15	34137231	34137231	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:34137231C>A	ENST00000389232.4	+	93	13535	c.13465C>A	c.(13465-13467)Cta>Ata	p.L4489I	RYR3_ENST00000415757.3_Missense_Mutation_p.L4484I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4489					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)		CATCATCTCTCTAGTCTGTGT	0.517000													12	96					1.15088e-07	1.4668e-07	1	1	0
GPR112	139378	broad.mit.edu	37	X	135469964	135469964	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:135469964G>A	ENST00000394143.1	+	16	8133	c.7842G>A	c.(7840-7842)acG>acA	p.T2614T	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Silent_p.T2409T|GPR112_ENST00000412101.1_Silent_p.T2409T|GPR112_ENST00000370652.1_Silent_p.T2614T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2614					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)					AATCACTGACGGAGAGAATTC	0.388000													31	56					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42556062	42556062	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:42556062A>G	ENST00000318522.5	+	22	2640	c.2378A>G	c.(2377-2379)aAt>aGt	p.N793S	EML4_ENST00000453191.2_Missense_Mutation_p.N57S|EML4_ENST00000402711.2_Missense_Mutation_p.N735S|EML4_ENST00000401738.3_Missense_Mutation_p.N804S	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	793					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGATATCAATGCACTGGTG	0.418000			T	ALK	NSCLC								13	61					0	0	1	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90198911	90198911	+	RNA	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:90198911C>A	ENST00000390276.2	+	0	253																											GATGCGACATCCAGATGACCC	0.458000													16	53					7.92952e-12	1.17758e-11	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7528167	7528167	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:7528167T>A	ENST00000313599.3	-	11	2768	c.2711A>T	c.(2710-2712)aAt>aTt	p.N904I	CD163L1_ENST00000416109.2_Missense_Mutation_p.N914I|CD163L1_ENST00000396630.1_Missense_Mutation_p.N904I|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	904	SRCR 9.					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						GGATTTGCCATTCACAAGTCG	0.532000													7	35					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108183144	108183144	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:108183144T>A	ENST00000278616.4	+	40	6310	c.5925T>A	c.(5923-5925)ctT>ctA	p.L1975L	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Silent_p.L1975L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1975	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACAGAAGTCTTGCATTTGAAG	0.323000			"""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)			9	76					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262383	45262383	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:45262383C>G	ENST00000303230.4	-	8	2370	c.2313G>C	c.(2311-2313)acG>acC	p.T771T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	771						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAAGCGCCTGCGTGCTCTTGT	0.632000													51	53					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5541559	5541559	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:5541559T>G	ENST00000382368.3	-	3	464	c.341A>C	c.(340-342)cAc>cCc	p.H114P	FBXL18_ENST00000453700.3_Missense_Mutation_p.H114P	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	114									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGGGCCACGTGTTCCACGGT	0.657000													10	13					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5528911	5528911	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:5528911C>A	ENST00000311659.4	-	2	2025	c.1878G>T	c.(1876-1878)atG>atT	p.M626I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	626	UBA.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGAAAGCCCATGGACCGCA	0.537000													28	74					2.08457e-15	3.45384e-15	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248201698	248201698	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248201698C>A	ENST00000366479.2	+	1	225	c.129C>A	c.(127-129)tcC>tcA	p.S43S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GAAATCTATCCATGATTCTTC	0.388000													42	388					7.88023e-25	1.43818e-24	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11521485	11521485	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:11521485G>T	ENST00000423059.3	-	7	2198	c.1947C>A	c.(1945-1947)acC>acA	p.T649T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	649	TSP type-1 6.					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)		TCCCTGAGCAGGTGTGTGAGC	0.567000										HNSCC(18;0.044)			34	91					6.2361e-21	1.10704e-20	1	1	0
CD79A	973	broad.mit.edu	37	19	42383065	42383065	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:42383065G>A	ENST00000221972.3	+	2	270	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	CD79A_ENST00000444740.2_Missense_Mutation_p.G29R	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	29					B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						CACAGGCCCTGGGTGCCAGGC	0.627000			"""O, S"""		DLBCL								5	31					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21728345	21728345	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:21728345G>T	ENST00000388958.3	+	14	1607	c.1606G>T	c.(1606-1608)Gat>Tat	p.D536Y	OTOA_ENST00000388956.4_Missense_Mutation_p.D457Y|OTOA_ENST00000286149.4_Missense_Mutation_p.D550Y|OTOA_ENST00000388957.3_Missense_Mutation_p.D212Y	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	550					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGTCCTGAAGGATAAGGAACT	0.438000													19	62					1.90627e-21	3.4127e-21	1	1	0
TMEM63C	57156	broad.mit.edu	37	14	77709290	77709290	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:77709290T>C	ENST00000298351.4	+	15	1376	c.1232T>C	c.(1231-1233)aTc>aCc	p.I411T		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	411						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCCCGCTTTATCGCAATCAAC	0.517000													13	54					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45402891	45402891	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:45402891C>T	ENST00000389039.6	-	8	1285	c.900G>A	c.(898-900)gaG>gaA	p.E300E	DUOX2_ENST00000603300.1_Silent_p.E300E			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	300	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGGGCAGCCACTCATACACAG	0.612000													7	65					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53384015	53384015	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:53384015T>G	ENST00000595635.1	-	8	1865	c.1364A>C	c.(1363-1365)cAc>cCc	p.H455P	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H455P|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CCTAATAAGGTGTGAAGGTGA	0.418000													11	36					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128429	68128429	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:68128429C>T	ENST00000585558.1	+	4	694	c.306C>T	c.(304-306)gaC>gaT	p.D102D	KCNJ16_ENST00000392670.1_Silent_p.D67D|KCNJ16_ENST00000589377.1_Silent_p.D67D|KCNJ16_ENST00000283936.1_Silent_p.D67D|KCNJ16_ENST00000392671.1_Silent_p.D67D|KCNJ16_ENST00000586462.1_Silent_p.D106D			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	67					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CTCTTGTGGACACCAAGTGGC	0.418000													21	90					0	0	1	0	0
CD70	970	broad.mit.edu	37	19	6590996	6590996	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:6590996C>A	ENST00000245903.3	-	1	167	c.18G>T	c.(16-18)tcG>tcT	p.S6S	CD70_ENST00000423145.3_Silent_p.S6S	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	6					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						CCGAGCAGCCCGAACCCTCCT	0.692000													15	33					4.14922e-12	6.27207e-12	1	1	0
HAP1	9001	broad.mit.edu	37	17	39890641	39890641	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:39890641G>T	ENST00000393939.2	-	1	255	c.246C>A	c.(244-246)cgC>cgA	p.R82R	JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.R82R|HAP1_ENST00000341193.5_Silent_p.R82R|HAP1_ENST00000310778.5_Silent_p.R82R			P54257	HAP1_HUMAN	huntingtin-associated protein 1	82					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATGCGGACGGGCGCCGGGCTC	0.672000													5	12					0.0215528	0.0225956	1	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606012	1606012	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:1606012G>A	ENST00000382171.2	-	1	501	c.468C>T	c.(466-468)ggC>ggT	p.G156G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	156	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGCCACAGCCCCCTTTGC	0.652000													32	232					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	817446	817446	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:817446G>C	ENST00000566549.1	+	15	1989	c.1572G>C	c.(1570-1572)atG>atC	p.M524I	MSLN_ENST00000382862.3_Missense_Mutation_p.M532I|MSLN_ENST00000545450.2_Missense_Mutation_p.M524I|MSLN_ENST00000563941.1_Missense_Mutation_p.M524I			Q13421	MSLN_HUMAN	mesothelin	532					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCACGTTCATGAAGCTGCGGA	0.692000													4	141					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5291054	5291054	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:5291054C>T	ENST00000380237.1	-	3	411	c.67G>A	c.(67-69)Gag>Aag	p.E23K	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.E23K|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	23					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCCAGCCTCTTCCACATTC	0.502000													4	60					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943385	72943385	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:72943385G>C	ENST00000328801.4	+	6	1435	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	479						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCCACTCTGGGAGACAGTTCC	0.667000													3	17					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88586476	88586476	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:88586476A>T	ENST00000266712.6	+	13	2022	c.1802A>T	c.(1801-1803)tAc>tTc	p.Y601F		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	601						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GATCTTTGGTACAACTTGGCA	0.338000													12	47					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039556	248039556	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248039556G>T	ENST00000366481.3	+	6	1274	c.1226G>T	c.(1225-1227)cGc>cTc	p.R409L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	409	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAAGTCCTCGCTGCATTGGG	0.478000													37	303					2.1956e-27	4.02447e-27	1	1	0
TFAP2B	7021	broad.mit.edu	37	6	50810857	50810857	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:50810857G>A	ENST00000263046.4	+	8	1328	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	TFAP2B_ENST00000393655.3_Missense_Mutation_p.G379R			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	379				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GACACCGATAGGGAACAGCCG	0.607000													35	127					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118635849	118635849	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:118635849C>G	ENST00000336338.5	-	8	1168	c.1103G>C	c.(1102-1104)aGc>aCc	p.S368T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	368						cilium|flagellar axoneme|microtubule		p.S368I(1)		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)		AAGCTGCATGCTTTCCAAATA	0.418000													9	27					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751915	247751915	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:247751915T>A	ENST00000320065.1	+	1	254	c.254T>A	c.(253-255)cTg>cAg	p.L85Q	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCCCAGCTCCTGGTAAACCTG	0.517000													4	135					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74472534	74472534	+	Missense_Mutation	SNP	C	C	A	rs144308388	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:74472534C>A	ENST00000323940.5	-	19	2136	c.1891G>T	c.(1891-1893)Ggg>Tgg	p.G631W	STRA6_ENST00000395105.4_Missense_Mutation_p.G631W|STRA6_ENST00000563965.1_Missense_Mutation_p.G670W|STRA6_ENST00000535552.1_Missense_Mutation_p.G668W|STRA6_ENST00000449139.2_Missense_Mutation_p.G631W|STRA6_ENST00000574278.1_Missense_Mutation_p.G646W|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.G622W|STRA6_ENST00000416286.3_Missense_Mutation_p.G623W	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	631					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CGGCTGGCCCCGGGCCTAGCT	0.632000													39	145					5.34276e-22	9.60559e-22	1	1	0
CTDP1	9150	broad.mit.edu	37	18	77474845	77474845	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:77474845G>C	ENST00000299543.7	+	8	1532	c.1385G>C	c.(1384-1386)aGt>aCt	p.S462T	CTDP1_ENST00000075430.7_Missense_Mutation_p.S462T	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	462	Ser-rich.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GAGAGCAGCAGTGAGTCCGAG	0.677000													3	5					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348825	38348825	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:38348825C>T	ENST00000273173.4	+	2	688	c.597C>T	c.(595-597)ctC>ctT	p.L199L	SLC22A14_ENST00000448498.1_Silent_p.L199L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	199						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TAGGCTCTCTCATCTTCAGGC	0.542000													13	99					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61712950	61712950	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:61712950G>C	ENST00000401558.2	-	20	3188	c.2461C>G	c.(2461-2463)Caa>Gaa	p.Q821E	XPO1_ENST00000404992.2_Missense_Mutation_p.Q821E|XPO1_ENST00000406957.1_Missense_Mutation_p.Q821E	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	821					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	p.Q821E(1)		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)			TCAAATATTTGAGGTATTTCA	0.358000			Mis		CLL								9	81					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933973	44933973	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:44933973C>A	ENST00000291187.4	-	6	1287	c.965G>T	c.(964-966)cGg>cTg	p.R322L	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R328L|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	328					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)				TCTGACGCCCCGACCACGCTC	0.498000													7	32					8.12818e-05	9.23161e-05	1	1	0
C19orf18	147685	broad.mit.edu	37	19	58485792	58485792	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:58485792C>A	ENST00000314391.3	-	1	110	c.9G>T	c.(7-9)aaG>aaT	p.K3N		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	3						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)		CACTCTGAACCTTGTCCATCA	0.383000													8	51					0.00621372	0.00664632	1	1	0
INO80D	54891	broad.mit.edu	37	2	206921201	206921201	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:206921201C>G	ENST00000403263.1	-	4	1089	c.685G>C	c.(685-687)Gtc>Ctc	p.V229L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	229					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GACTTGCAGACTGAACCCTGC	0.562000													7	29					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51863459	51863459	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:51863459C>A	ENST00000453097.2	+	12	1628	c.1411C>A	c.(1411-1413)Cga>Aga	p.R471R	SLC4A8_ENST00000535225.2_Silent_p.R418R|SLC4A8_ENST00000358657.3_Silent_p.R498R|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Silent_p.R418R|SLC4A8_ENST00000514353.3_Silent_p.R418R	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	471					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAGCGACTACCGAGATGCACT	0.542000													9	87					0.00829132	0.00884617	1	1	0
FBXL4	26235	broad.mit.edu	37	6	99322155	99322155	+	Nonstop_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:99322155C>A	ENST00000369244.2	-	10	2293	c.1865G>T	c.(1864-1866)tGa>tTa	p.*622L	FBXL4_ENST00000229971.1_Nonstop_Mutation_p.*622L			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	0					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)		TATATTAAGTCACTGAGTAAA	0.323000													6	30					8.12818e-05	9.23161e-05	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30033634	30033634	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:30033634G>A	ENST00000328224.6	-	2	1825	c.592C>T	c.(592-594)Cca>Tca	p.P198S		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	198						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AAAGTCTCTGGAAACTGGGCC	0.483000													3	34					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896699	175896699	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:175896699A>T	ENST00000359240.3	+	5	693	c.23A>T	c.(22-24)cAt>cTt	p.H8L	ADAM29_ENST00000404450.4_Missense_Mutation_p.H8L|ADAM29_ENST00000514159.1_Missense_Mutation_p.H8L|ADAM29_ENST00000445694.1_Missense_Mutation_p.H8L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	8					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCCTGCTGCATTGCCTTGGG	0.493000													13	74					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190541343	190541343	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:190541343A>G	ENST00000520309.1	+	2	215	c.127A>G	c.(127-129)Ata>Gta	p.I43V	ANKAR_ENST00000313581.4_Missense_Mutation_p.I43V|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Missense_Mutation_p.I43V|ANKAR_ENST00000431575.2_5'UTR|ANKAR_ENST00000281412.6_5'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	43						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)			TCGGAGTGAAATACAAGAGTT	0.388000													14	42					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42728695	42728695	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:42728695C>T	ENST00000301215.3	+	3	365	c.140C>T	c.(139-141)gCc>gTc	p.A47V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GAGGCCCTTGCCTCATCCCTC	0.537000													34	106					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26706361	26706361	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:26706361G>T	ENST00000272371.2	-	13	1487	c.1361C>A	c.(1360-1362)cCc>cAc	p.P454H	OTOF_ENST00000403946.3_Missense_Mutation_p.P454H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	454	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCACGTAGGGGTCCACGAG	0.542000													15	55					1.15088e-07	1.4668e-07	1	1	0
KCNH3	23416	broad.mit.edu	37	12	49951315	49951315	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:49951315C>T	ENST00000257981.6	+	15	3091	c.2831C>T	c.(2830-2832)gCa>gTa	p.A944V		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	944					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GACACTGGGGCATCCTCCTAC	0.711000													17	39					0	0	1	0	0
SNURF	8926	broad.mit.edu	37	15	25207298	25207298	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:25207298G>T	ENST00000338094.6	+	2	113	c.52G>T	c.(52-54)Gta>Tta	p.V18L	SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.V18L|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.V18L	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AGAACAGCACGTACCAGAGGT	0.443000													13	68					1.5739e-10	2.2773e-10	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129785585	129785585	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:129785585C>A	ENST00000421865.2	+	50	7192	c.7143C>A	c.(7141-7143)gcC>gcA	p.A2381A		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2381	Laminin G-like 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)		TGTATCTTGCCACACGAGACC	0.418000													24	143					9.65021e-13	1.48803e-12	1	1	0
CCDC94	55702	broad.mit.edu	37	19	4249230	4249230	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:4249230C>G	ENST00000262962.7	+	2	98	c.30C>G	c.(28-30)taC>taG	p.Y10*		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	10										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		TGCAGAAATACTACCCGCCGG	0.582000													11	25					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45811281	45811281	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:45811281A>T	ENST00000177694.1	+	1	672	c.461A>T	c.(460-462)cAg>cTg	p.Q154L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	154					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATCAGCACCAGACAGAGATG	0.617000													7	46					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564276	140564276	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:140564276C>T	ENST00000361016.2	+	1	3297	c.2142C>T	c.(2140-2142)tgC>tgT	p.C714C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		714					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGCTGTGCAGGAGGAGCA	0.677000													35	105					0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5783136	5783136	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:5783136G>A	ENST00000419421.2	-	3	1226	c.1122C>T	c.(1120-1122)acC>acT	p.T374T		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	372										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCGGGGTGTTGGTGGCAGGGG	0.662000													7	38					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120971841	120971841	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:120971841C>A	ENST00000222462.2	+	3	746	c.456C>A	c.(454-456)acC>acA	p.T152T	WNT16_ENST00000361301.2_Silent_p.T142T	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	152					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)					GTGACACCACCTTGCAGAACG	0.537000													17	49					6.44725e-10	9.04971e-10	1	1	0
ADCY8	114	broad.mit.edu	37	8	132002707	132002707	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:132002707G>T	ENST00000286355.5	-	2	3134	c.1042C>A	c.(1042-1044)Caa>Aaa	p.Q348K	ADCY8_ENST00000377928.3_Missense_Mutation_p.Q348K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	348					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGAAAGCTTGGCGCTGGGCC	0.517000										HNSCC(32;0.087)			30	138					8.16721e-17	1.38302e-16	1	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77912661	77912661	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:77912661G>T	ENST00000321110.1	-	2	1552	c.1257C>A	c.(1255-1257)aaC>aaA	p.N419K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	419							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCATAGGTTGGTTTTCAGCTG	0.527000													19	26					2.39187e-15	3.93823e-15	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154875864	154875864	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:154875864G>T	ENST00000287907.2	+	2	1317		c.e2-1		HTR5A_ENST00000486819.1_Splice_Site	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTCTTTTACAGGTGAAGGACT	0.592000													8	19					0.000673444	0.000744843	1	1	0
NCOA1	8648	broad.mit.edu	37	2	24981020	24981020	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:24981020G>C	ENST00000405141.1	+	22	4771	c.4060G>C	c.(4060-4062)Gag>Cag	p.E1354Q	NCOA1_ENST00000395856.3_Missense_Mutation_p.E1354Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.E1354Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.E1354Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.E1203Q|NCOA1_ENST00000406961.1_Missense_Mutation_p.E1354Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.E1354Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1354									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGTGCCCTGAGCAGGTAAG	0.473000			T	PAX3	alveolar rhadomyosarcoma								4	111					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156752856	156752856	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:156752856G>T	ENST00000275820.3	+	4	1635	c.1620G>T	c.(1618-1620)caG>caT	p.Q540H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	540	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCGAGTTTCAGGACCAGACCA	0.473000													21	63					1.66031e-10	2.36986e-10	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167138188	167138188	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:167138188C>A	ENST00000375387.4	-	13	2448		c.e13+1		SCN9A_ENST00000409672.1_Splice_Site|SCN9A_ENST00000409435.1_Splice_Site|SCN9A_ENST00000303354.6_Splice_Site|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit							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)	TTATTACATACCTTCCACAGT	0.348000													11	56					0.00010058	0.000113775	1	1	0
ANKRD19P	138649	broad.mit.edu	37	9	95576207	95576207	+	RNA	SNP	G	G	A	rs41273376		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:95576207G>A	ENST00000473204.1	+	0	650																											GGAACATGGCGCCAATCCAAA	0.413000													3	45					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48421036	48421036	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:48421036T>C	ENST00000296438.5	+	7	948	c.762T>C	c.(760-762)cgT>cgC	p.R254R	FBXW12_ENST00000436231.1_Silent_p.R97R|FBXW12_ENST00000445170.1_Silent_p.R235R|FBXW12_ENST00000415155.1_Silent_p.R184R	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	254										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATACAGTCGTACCTTGCCAC	0.418000													13	140					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163468	32163468	+	RNA	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:32163468C>A	ENST00000564145.1	-	0	65																											AAATGTGACACGTCCGCATGT	0.512000													6	100					0.00621372	0.00664632	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22940385	22940385	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:22940385G>A	ENST00000397104.3	-	5	2052	c.2053C>T	c.(2053-2055)Ctt>Ttt	p.L685F	ZNF99_ENST00000596209.1_Missense_Mutation_p.L776F					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)				TGTTTTCTAAGGGCTGAGAAA	0.353000													7	42					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418999	23418999	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:23418999T>G	ENST00000302291.4	-	4	2557	c.1756A>C	c.(1756-1758)Aat>Cat	p.N586H	LUZP1_ENST00000374623.3_Missense_Mutation_p.N586H|LUZP1_ENST00000314174.5_Missense_Mutation_p.N586H|LUZP1_ENST00000418342.1_Missense_Mutation_p.N586H			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	586						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCAAGGCCATTGGCAGCCTTT	0.498000													10	55					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90388457	90388457	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:90388457C>G	ENST00000369393.3	-	75	12388	c.12273G>C	c.(12271-12273)gtG>gtC	p.V4091V	MDN1_ENST00000428876.1_Silent_p.V4091V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4091					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGAGGAAATCACTTCACCTG	0.502000													3	53					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339151	19339151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:19339151C>T	ENST00000252575.5	+	8	2765	c.2722C>T	c.(2722-2724)Cag>Tag	p.Q908*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.Q359*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	908					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGTGGAGACCCAGGGAACATC	0.622000													13	76					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													3	46					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503687	40503687	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:40503687C>T	ENST00000590910.1	-	5	467	c.338G>A	c.(337-339)gGg>gAg	p.G113E	RIT2_ENST00000589109.1_Silent_p.G92G|RIT2_ENST00000282028.4_Silent_p.G92G|RIT2_ENST00000326695.5_Silent_p.G92G			Q99578	RIT2_HUMAN	Ras-like without CAAX 2	0					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAAGCCTTCCCCACCTCGCA	0.433000													49	167					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140255507	140255507	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:140255507C>T	ENST00000275884.6	-	11	2383	c.1966G>A	c.(1966-1968)Ggc>Agc	p.G656S	DENND2A_ENST00000537639.1_Missense_Mutation_p.G656S|DENND2A_ENST00000496613.1_Missense_Mutation_p.G656S|DENND2A_ENST00000492720.1_Missense_Mutation_p.G656S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	656										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCCCTTTGCCTCCAGGCTTT	0.488000													11	48					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17844205	17844205	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:17844205G>T	ENST00000324096.4	+	6	3143	c.2992G>T	c.(2992-2994)Gcc>Tcc	p.A998S	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A972S	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	998	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGCGCTACTGGCCAGCAAGCA	0.627000													3	16					1.23904e-05	1.46227e-05	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1266056	1266056	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:1266056C>A	ENST00000447027.1	+	31	8013	c.7955C>A	c.(7954-7956)cCc>cAc	p.P2652H	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2649H|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2649	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	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)		ACGGTGACCCCCTCCTCCATC	0.632000													29	55					3.67414e-24	6.66234e-24	1	1	0
ATP8A1	10396	broad.mit.edu	37	4	42576725	42576725	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:42576725C>A	ENST00000381668.5	-	14	1438		c.e14-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTATTTAACCTAAAAAAGTT	0.338000													6	17					8.12818e-05	9.23161e-05	1	1	0
LRP4	4038	broad.mit.edu	37	11	46916274	46916274	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:46916274T>C	ENST00000378623.1	-	12	1648	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	469					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)		GGCAATGGCATTCTCCAGGTT	0.597000													33	69					0	0	1	0	0
SEPT1	1731	broad.mit.edu	37	16	30390500	30390500	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:30390500C>T	ENST00000321367.3	-	10	951	c.906G>A	c.(904-906)gaG>gaA	p.E302E	SEPT1_ENST00000571393.1_Silent_p.E255E|SEPT1_ENST00000605106.1_Silent_p.E260E	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	255					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GATGTGGGTTCTCCACTGGAG	0.617000													4	72					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3423912	3423912	+	RNA	SNP	G	G	A	rs138295053	by1000genomes	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:3423912G>A	ENST00000529482.1	+	0	756																											CTGGTGATGCGCCTCCGCGAG	0.637000													8	25					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735790	55735790	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55735790C>A	ENST00000312345.2	-	1	200	c.150G>T	c.(148-150)atG>atT	p.M50I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	50					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)					GAAAAAAATACATGGGAGTCT	0.323000													16	62					9.16793e-09	1.23752e-08	1	1	0
CDH9	1007	broad.mit.edu	37	5	26886125	26886125	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:26886125G>T	ENST00000231021.4	-	10	1752	c.1580C>A	c.(1579-1581)cCa>cAa	p.P527Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	527	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCTGGCACTGGTTCAAAAAA	0.308000													16	182					5.26018e-13	8.14075e-13	1	1	0
BEND3	57673	broad.mit.edu	37	6	107391278	107391278	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:107391278C>G	ENST00000429433.2	-	5	1766	c.1117G>C	c.(1117-1119)Gac>Cac	p.D373H	BEND3_ENST00000369042.1_Missense_Mutation_p.D373H	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	373										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TCCTCCTGGTCTTTGTTGTCC	0.642000													18	81					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645471	122645471	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:122645471G>T	ENST00000195173.4	-	9	1207	c.904C>A	c.(904-906)Cgg>Agg	p.R302R	SEMA5B_ENST00000357599.3_Silent_p.R302R|SEMA5B_ENST00000451055.2_Silent_p.R356R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	302	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)		GCGTTCTCCCGCAGGAAGAAG	0.612000													14	40					0.000151284	0.000170903	1	1	0
FAM153B	202134	broad.mit.edu	37	5	175530281	175530281	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:175530281A>T	ENST00000253490.4	+	13	773	c.716A>T	c.(715-717)gAg>gTg	p.E239V	FAM153B_ENST00000515817.1_Missense_Mutation_p.E162V|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Missense_Mutation_p.E162V			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	239										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	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;0.000183)	Kidney(146;0.0965)		GGCGAGGAGGAGGACCCAGAG	0.453000													24	248					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003515	41003515	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:41003515C>A	ENST00000308423.2	+	1	315	c.155C>A	c.(154-156)aCa>aAa	p.T52K		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	52					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CAGCCTTGGACACACCCTGGC	0.642000													5	165					0.014758	0.0155687	1	1	0
ANK2	287	broad.mit.edu	37	4	114153409	114153409	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:114153409T>A	ENST00000357077.4	+	5	530	c.477T>A	c.(475-477)gcT>gcA	p.A159A	ANK2_ENST00000394537.3_Silent_p.A159A|ANK2_ENST00000506722.1_Silent_p.A138A|ANK2_ENST00000264366.6_Silent_p.A159A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	159					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)		AGAGCACTGCTACAGAGGTAA	0.383000													8	31					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74745595	74745595	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:74745595C>T	ENST00000404568.3	-	12	2351	c.2132G>A	c.(2131-2133)aGa>aAa	p.R711K	DQX1_ENST00000393951.2_Missense_Mutation_p.R711K	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	711						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ACAGGGATCTCTGAACTCCTG	0.522000													16	65					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390663	48390663	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:48390663C>A	ENST00000224600.4	-	1	328	c.215G>T	c.(214-216)aGt>aTt	p.S72I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	72	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)	TGTCAGCACACTGGCCAGCGT	0.622000													10	64					0.000442599	0.000491454	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151156248	151156248	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:151156248C>A	ENST00000282466.3	-	6	6100	c.6101G>T	c.(6100-6102)aGa>aTa	p.R2034I	IGSF10_ENST00000495443.1_5'UTR	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	2034	Ig-like C2-type 6.				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)			AGGTTTCAGTCTTAGGCTAAC	0.428000													14	86					1.49906e-05	1.76421e-05	1	1	0
DPP6	1804	broad.mit.edu	37	7	154598741	154598741	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:154598741T>C	ENST00000404039.1	+	16	1980	c.1393T>C	c.(1393-1395)Tcc>Ccc	p.S465P	DPP6_ENST00000377770.3_Missense_Mutation_p.S529P|DPP6_ENST00000332007.3_Missense_Mutation_p.S467P|DPP6_ENST00000427557.1_Missense_Mutation_p.S422P	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	529					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)			GCAGTGCCTCTCCTGTGACCT	0.592000													22	163					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160164819	160164819	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:160164819G>A	ENST00000368079.3	+	4	740	c.465G>A	c.(463-465)gtG>gtA	p.V155V	CASQ1_ENST00000368078.3_Silent_p.V161V	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	161						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGACCCTGTGGAATTGATTG	0.478000													7	67					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130931107	130931107	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:130931107C>A	ENST00000339679.7	-	4	357	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000351288.6_Silent_p.V122V|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000409031.1_Silent_p.V122V|SMPD4_ENST00000431183.2_Intron			Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	0					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GAAATTCCATCACGATGCTGT	0.527000													9	42					1.76689e-08	2.34384e-08	1	1	0
PPP1CB	5500	broad.mit.edu	37	2	29006832	29006832	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:29006832G>A	ENST00000395366.2	+	5	852	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	PPP1CB_ENST00000296122.6_Missense_Mutation_p.V194I|SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000358506.2_Missense_Mutation_p.V194I	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	194					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)					ACCTACTGATGTCCCTGATAC	0.343000													8	46					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													3	53					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174819	63174819	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:63174819G>T	ENST00000322893.7	-	11	2642	c.2374C>A	c.(2374-2376)Caa>Aaa	p.Q792K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	792					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGACATTTTTGGTCAGCACCG	0.463000													4	47					1.23904e-05	1.46227e-05	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136700977	136700977	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:136700977C>T	ENST00000445907.2	+	3	1893	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.L455L|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Silent_p.L455L|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.L455L|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.L455L|CHRM2_ENST00000402486.3_Silent_p.L455L|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	455					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)	AACACCTTCTCATGTGTCATT	0.408000													7	84					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746729	37746729	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:37746729G>C	ENST00000539465.1	+	16	5293	c.4700G>C	c.(4699-4701)tGt>tCt	p.C1567S	FRMPD1_ENST00000377765.3_Missense_Mutation_p.C1567S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1567						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)		GCCGTGTTCTGTTTGACCCAG	0.607000													28	121					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70990477	70990477	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:70990477A>T	ENST00000256389.3	-	2	1392	c.1148T>A	c.(1147-1149)tTg>tAg	p.L383*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	333	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		AAAAACGACCAACCTGTTGTC	0.423000													13	42					0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207265092	207265092	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:207265092C>T	ENST00000243611.5	+	3	630	c.336C>T	c.(334-336)atC>atT	p.I112I	C4BPB_ENST00000367076.3_Silent_p.I111I|C4BPB_ENST00000391923.1_Silent_p.I112I|C4BPB_ENST00000367078.3_Silent_p.I112I|C4BPB_ENST00000451804.2_Silent_p.I102I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	112	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						ACCACTACATCCTCAAGGGCA	0.488000													9	92					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348210	348210	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:348210G>T	ENST00000604971.1	+	3	1175	c.62G>T	c.(61-63)tGt>tTt	p.C21F	DUSP22_ENST00000605315.1_Missense_Mutation_p.C21F|DUSP22_ENST00000344450.5_Missense_Mutation_p.C124F|DUSP22_ENST00000605863.1_Missense_Mutation_p.C21F|DUSP22_ENST00000605035.1_Missense_Mutation_p.C21F|DUSP22_ENST00000419235.2_Missense_Mutation_p.C124F|DUSP22_ENST00000603453.1_Missense_Mutation_p.C21F			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	124					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGGAGATCCTGTGCCAACCCC	0.572000													20	162					1.28384e-07	1.63134e-07	1	1	0
NT5C1B	93034	broad.mit.edu	37	2	18766133	18766133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:18766133G>A	ENST00000304081.4	-	4	470	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	NT5C1B_ENST00000600945.1_Nonsense_Mutation_p.Q184*|NT5C1B_ENST00000359846.2_Nonsense_Mutation_p.Q184*|NT5C1B-RDH14_ENST00000532967.1_Nonsense_Mutation_p.Q184*	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)				CGGGGCAGCTGGGGCGACGCG	0.721000													6	17					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48713140	48713140	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:48713140C>T	ENST00000236495.5	+	15	2096	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	SLC5A9_ENST00000533824.1_Silent_p.L678L|SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000438567.2_Silent_p.L657L	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	657						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AGGAGCCACTCTGGAGACATG	0.547000													4	75					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647285	34647285	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:34647285C>A	ENST00000537011.1	+	7	1808	c.1426C>A	c.(1426-1428)Ccc>Acc	p.P476T	NUTM1_ENST00000438749.3_Missense_Mutation_p.P466T|NUTM1_ENST00000333756.4_Missense_Mutation_p.P448T					NUT midline carcinoma, family member 1																		ACAGAGAGATCCCTTGGCCTT	0.458000													11	62					4.68919e-08	6.09595e-08	1	1	0
PCDH7	5099	broad.mit.edu	37	4	30732382	30732382	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:30732382T>C	ENST00000361762.2	+	2	4190	c.3182T>C	c.(3181-3183)cTa>cCa	p.L1061P	PCDH7_ENST00000543491.1_Intron	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1061					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAGATGCGTCTACATCCATAC	0.378000													10	72					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33413810	33413810	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:33413810C>G	ENST00000404816.2	+	7	1946	c.1593C>G	c.(1591-1593)acC>acG	p.T531T	LTBP1_ENST00000354476.3_Silent_p.T531T|LTBP1_ENST00000418533.2_Silent_p.T205T|LTBP1_ENST00000402934.1_Silent_p.T205T|LTBP1_ENST00000404525.1_Silent_p.T205T|LTBP1_ENST00000407925.1_Silent_p.T205T|LTBP1_ENST00000390003.4_Silent_p.T205T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	531					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)				TCCAGAAGACCCAGACCATAC	0.527000													30	85					0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116542282	116542282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:116542282G>T	ENST00000319550.4	+	7	677	c.595G>T	c.(595-597)Gaa>Taa	p.E199*		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	199							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TAGTTGTCCTGAATCTGTGAA	0.323000													8	55					5.68852e-11	8.35966e-11	1	1	0
GPR176	11245	broad.mit.edu	37	15	40093898	40093898	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:40093898C>A	ENST00000299092.3	-	4	1178	c.980G>T	c.(979-981)cGc>cTc	p.R327L	GPR176_ENST00000561100.1_Missense_Mutation_p.R328L|GPR176_ENST00000543580.1_Missense_Mutation_p.R283L	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	328					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.R328L(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAAGCACTTGCGGACAGATTT	0.552000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	55					6.40141e-05	7.35945e-05	1	1	0
OR51L1	119682	broad.mit.edu	37	11	5020422	5020422	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:5020422G>T	ENST00000321543.1	+	1	210	c.210G>T	c.(208-210)gtG>gtT	p.V70V		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTAGCAGTGAATGACCTGG	0.453000													26	72					5.77227e-19	9.97458e-19	1	1	0
ACPL2	92370	broad.mit.edu	37	3	141011153	141011153	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:141011153C>T	ENST00000508812.1	+	5	2429	c.522C>T	c.(520-522)atC>atT	p.I174I	ACPL2_ENST00000286353.4_Silent_p.I183I|ACPL2_ENST00000393010.2_Silent_p.I183I|ACPL2_ENST00000393007.1_Silent_p.I167I|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Silent_p.I145I|ACPL2_ENST00000504264.1_Silent_p.I166I			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	183						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TGAGGGATATCTATCTAAAGA	0.478000													20	59					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271929	22271929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:22271929C>A	ENST00000594947.1	+	4	1521	c.1377C>A	c.(1375-1377)taC>taA	p.Y459*		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	459					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)				AGAAACCCTACAAATGTGAAG	0.403000													8	44					0.0477658	0.049707	1	1	0
NID2	22795	broad.mit.edu	37	14	52508872	52508872	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:52508872C>A	ENST00000216286.5	-	7	1775	c.1776G>T	c.(1774-1776)tgG>tgT	p.W592C	NID2_ENST00000541773.1_Missense_Mutation_p.W539C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	592	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGCAAAGAGCCAGCCAAACA	0.587000													18	103					1.33834e-09	1.84185e-09	1	1	0
DAB2	1601	broad.mit.edu	37	5	39394384	39394384	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:39394384C>G	ENST00000320816.6	-	2	506	c.39G>C	c.(37-39)caG>caC	p.Q13H	DAB2_ENST00000339788.6_Missense_Mutation_p.Q13H|DAB2_ENST00000545653.1_Missense_Mutation_p.Q13H|DAB2_ENST00000509337.1_Missense_Mutation_p.Q13H	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	13					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)			GTTGGTCGGGCTGACCATTGG	0.502000													38	59					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190068084	190068084	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:190068084G>T	ENST00000367462.3	-	8	1596	c.1365C>A	c.(1363-1365)gaC>gaA	p.D455E	FAM5C_ENST00000534846.1_Missense_Mutation_p.D353E|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		455						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)					GGGTGCGGTTGTCTGGTGCGC	0.627000													34	56					8.88839e-20	1.55501e-19	1	1	0
MEFV	4210	broad.mit.edu	37	16	3293550	3293550	+	Missense_Mutation	SNP	G	G	T	rs104895107		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:3293550G>T	ENST00000219596.1	-	10	1976	c.1937C>A	c.(1936-1938)cCg>cAg	p.P646Q	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.P435Q|MEFV_ENST00000339854.4_Missense_Mutation_p.P466Q	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	646	B30.2/SPRY.		P -> L (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAGGAAACTCGGAGAGCCCAG	0.522000													33	123					4.3181e-19	7.47704e-19	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37508039	37508039	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:37508039T>G	ENST00000374660.1	+	40	3687	c.3588T>G	c.(3586-3588)ttT>ttG	p.F1196L	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.F1077L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F1077L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATAAATACTTTGAGGACATTA	0.338000													22	67					0	0	1	0	0
BMI1	648	broad.mit.edu	37	10	22615878	22615878	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:22615878G>T	ENST00000376663.3	+	3	677	c.172G>T	c.(172-174)Gtc>Ttc	p.V58F	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.V201F	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TATTTGTGATGTCCAAGTTCA	0.343000													24	111					9.80776e-20	1.7123e-19	1	1	0
CFTR	1080	broad.mit.edu	37	7	117149133	117149133	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:117149133T>A	ENST00000003084.6	+	3	342	c.210T>A	c.(208-210)atT>atA	p.I70I	CFTR_ENST00000454343.1_Silent_p.I70I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	70					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)	CTAAACTCATTAATGCCCTTC	0.338000									Cystic Fibrosis				32	77					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235451	3235451	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:3235451G>T	ENST00000217939.6	-	6	6425	c.6271C>A	c.(6271-6273)Ccc>Acc	p.P2091T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2091	Ig-like C2-type 5.					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)				AACTGCGAGGGGCGGATCTGG	0.662000													3	4					0.115264	0.118489	1	1	0
WDR47	22911	broad.mit.edu	37	1	109538225	109538225	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:109538225C>A	ENST00000357672.3	-	7	1959	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	WDR47_ENST00000369965.4_Missense_Mutation_p.E557D|WDR47_ENST00000361054.3_Missense_Mutation_p.E528D|WDR47_ENST00000369962.3_Missense_Mutation_p.E556D|WDR47_ENST00000400794.3_Missense_Mutation_p.E564D			O94967	WDR47_HUMAN	WD repeat domain 47	556										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)		AAGGTGATTCCTCCAGAAAAG	0.383000													18	151					9.7654e-05	0.000110762	1	1	0
SHOX	6473	broad.mit.edu	37	X	601756	601756	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:601756C>A	ENST00000381578.1	+	5	1258	c.567C>A	c.(565-567)aaC>aaA	p.N189K	SHOX_ENST00000381575.1_Missense_Mutation_p.N189K|SHOX_ENST00000334060.3_Missense_Mutation_p.N189K|SHOX_ENST00000554971.1_Missense_Mutation_p.N189K	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	189					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				GCACAGCCAACCACCTAGACG	0.582000													11	58					6.40141e-05	7.35945e-05	1	1	0
BCL9	607	broad.mit.edu	37	1	147096596	147096596	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:147096596G>A	ENST00000234739.3	+	10	4857	c.4117G>A	c.(4117-4119)Ggg>Agg	p.G1373R		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1373	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACCCACCCTGGGCCTGTGGG	0.637000			T	"""IGH@, IGL@"""	B-ALL								7	52					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574319	140574319	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:140574319G>T	ENST00000239446.4	+	1	2378	c.2194G>T	c.(2194-2196)Ggt>Tgt	p.G732C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		732					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)			GGTGCCCGAGGGTCCTTTTCC	0.667000													30	74					8.16277e-20	1.434e-19	1	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020669	33020669	+	RNA	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:33020669C>A	ENST00000565407.2	+	0	77				RP11-19N8.2_ENST00000567619.1_RNA																							CTGGTGGAGTCTGGGGGAGGC	0.562000													28	101					1.36615e-20	2.41505e-20	1	1	0
RALGPS1	9649	broad.mit.edu	37	9	129975264	129975264	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:129975264G>T	ENST00000259351.5	+	17	1755	c.1488G>T	c.(1486-1488)tgG>tgT	p.W496C	RALGPS1_ENST00000424082.2_Missense_Mutation_p.W454C|RALGPS1_ENST00000373434.1_Missense_Mutation_p.W446C	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	496	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCGTGGGCTGGATGGTGCAGC	0.592000													13	55					6.94344e-10	9.71392e-10	1	1	0
UBQLN3	50613	broad.mit.edu	37	11	5528910	5528910	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:5528910C>G	ENST00000311659.4	-	2	2026	c.1879G>C	c.(1879-1881)Ggc>Cgc	p.G627R	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	627	UBA.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAAAGCCCATGGACCGC	0.537000													28	73					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56139388	56139388	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:56139388G>T	ENST00000416613.1	+	37	3644	c.3572G>T	c.(3571-3573)cGa>cTa	p.R1191L	KTN1_ENST00000438792.2_Missense_Mutation_p.R1162L|KTN1_ENST00000555573.1_Missense_Mutation_p.R196L|KTN1_ENST00000413890.2_Missense_Mutation_p.R1168L|KTN1_ENST00000554507.1_Missense_Mutation_p.R457L|KTN1_ENST00000395308.1_Missense_Mutation_p.R1168L|KTN1_ENST00000395309.3_Missense_Mutation_p.R1191L|KTN1_ENST00000395311.1_Missense_Mutation_p.R1168L|KTN1_ENST00000395314.3_Missense_Mutation_p.R1191L			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1191					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						GAGCTAGAGCGATTAAGAAGC	0.333000			T	RET	papillary thryoid								11	21					1.3612e-06	1.6816e-06	1	1	0
ATP11B	23200	broad.mit.edu	37	3	182538164	182538164	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:182538164G>T	ENST00000323116.5	+	2	404	c.144_splice	c.e2+1	p.K48_splice	ATP11B_ENST00000493826.1_Splice_Site_p.K48_splice	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	48					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)			TTTCATCTAAGGTAAGAATTA	0.443000													5	30					1	1	1	1	0
RYR3	6263	broad.mit.edu	37	15	33835886	33835886	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:33835886C>A	ENST00000389232.4	+	8	780	c.710C>A	c.(709-711)cCa>cAa	p.P237Q	RYR3_ENST00000415757.3_Missense_Mutation_p.P237Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	237	MIR 3.				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)		TTGACGATACCATCTACAGAC	0.403000													16	132					1.56452e-12	2.39064e-12	1	1	0
ZNF534	147658	broad.mit.edu	37	19	52941259	52941259	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:52941259G>A	ENST00000332323.6	+	4	646	c.585G>A	c.(583-585)agG>agA	p.R195R	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.R182R	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TACACATTAGGGAAAAGCCTT	0.328000													5	61					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134992256	134992256	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:134992256C>A	ENST00000535938.1	+	15	1958	c.1791C>A	c.(1789-1791)gtC>gtA	p.V597V	SAGE1_ENST00000370709.3_Silent_p.V597V|SAGE1_ENST00000324447.3_Silent_p.V597V|SAGE1_ENST00000537770.1_Silent_p.V221V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	597										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)					CCGATAATGTCTTCTCGACTG	0.403000													35	37					4.62619e-21	8.22975e-21	1	1	0
HS3ST5	222537	broad.mit.edu	37	6	114379204	114379204	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:114379204C>A	ENST00000312719.5	-	5	1446	c.258G>T	c.(256-258)ctG>ctT	p.L86L	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L86L			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	86					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCTGCTGGACCAGGTCATGGA	0.577000													11	47					1.5842e-08	2.11812e-08	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768982	31768982	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:31768982G>A	ENST00000240587.4	-	2	2044	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	573					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)					ATGGGTTTCAGGGGCGTGCTC	0.592000													20	96					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3129840	3129840	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:3129840G>T	ENST00000359864.2	+	9	814	c.624G>T	c.(622-624)gcG>gcT	p.A208A	TEAD4_ENST00000358409.2_Silent_p.A165A|TEAD4_ENST00000397122.2_Silent_p.A79A	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	208					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CGCCCTCTGCGCCCCCGGCAC	0.677000													21	47					1.96292e-10	2.78768e-10	1	1	0
CD6	923	broad.mit.edu	37	11	60785403	60785403	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:60785403C>A	ENST00000313421.7	+	11	1941	c.1755C>A	c.(1753-1755)ccC>ccA	p.P585P	CD6_ENST00000344028.5_Silent_p.P553P|CD6_ENST00000452451.2_Silent_p.P544P|CD6_ENST00000352009.5_Silent_p.P553P|CD6_ENST00000346437.4_Silent_p.P512P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	585					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CATGGAACCCCCAGGTGTTTT	0.582000													11	97					4.36969e-10	6.14374e-10	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039406	11039406	+	RNA	SNP	T	T	C	rs8134740	by1000genomes	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:11039406T>C	ENST00000470054.1	-	0	797									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)		TCATTAGAAATCTGTTTTTCC	0.299000													11	113					0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91551121	91551121	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:91551121T>A	ENST00000333371.3	-	7	830	c.477A>T	c.(475-477)gaA>gaT	p.E159D	VPS33B_ENST00000535906.1_Missense_Mutation_p.E132D|VPS33B_ENST00000535843.1_Missense_Mutation_p.E68D	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	159					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCCTGAAAAATTCTGGTAGTT	0.493000													22	106					0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149895789	149895789	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:149895789G>C	ENST00000271628.8	-	5	1615	c.1031C>G	c.(1030-1032)cCt>cGt	p.P344R		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	344						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGAGGTCCAGGATGAGGCAT	0.632000													4	25					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85946800	85946800	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:85946800A>T	ENST00000268638.5	+	5	933	c.511A>T	c.(511-513)Agt>Tgt	p.S171C		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	171					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCCTGTCGGAGTCAGCTCCT	0.612000													19	104					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101760420	101760420	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:101760420G>T	ENST00000261637.4	+	47	6384	c.6210G>T	c.(6208-6210)caG>caT	p.Q2070H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2070					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						GAGGTGGACAGAAAGCTGTTG	0.498000													36	126					1.36161e-19	2.36742e-19	1	1	0
TMEM86A	144110	broad.mit.edu	37	11	18722737	18722737	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:18722737C>T	ENST00000280734.2	+	2	375	c.279C>T	c.(277-279)ttC>ttT	p.F93F	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	93						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						AAGGATACTTCGTGCATGGTC	0.587000													8	97					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674028	70674028	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:70674028G>T	ENST00000260126.3	-	3	1696	c.990C>A	c.(988-990)ccC>ccA	p.P330P	SLCO5A1_ENST00000524945.1_Silent_p.P330P|SLCO5A1_ENST00000530307.1_Silent_p.P330P|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	330						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAGGATTTCTGGGATCAACAT	0.388000													11	29					4.68919e-08	6.09595e-08	1	1	0
NARFL	64428	broad.mit.edu	37	16	787273	787273	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:787273C>A	ENST00000251588.2	-	3	235	c.219G>T	c.(217-219)gcG>gcT	p.A73A	NARFL_ENST00000301694.5_Silent_p.A73A|NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000568545.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	73					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AGCCGCTGCACGCCAGGCAGT	0.617000													25	109					7.26314e-15	1.18026e-14	1	1	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	A	rs121913358		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:140481402C>A	ENST00000288602.6	-	11	1466	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	121					1.7881e-09	2.45283e-09	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128324337	128324337	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:128324337G>T	ENST00000262462.4	+	3	1740	c.730G>T	c.(730-732)Ggt>Tgt	p.G244C	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G244C|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G244C			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	244					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GGTTTTAAGGGGTTCTGCTGT	0.398000													26	44					7.38237e-10	1.03109e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179462319	179462319	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179462319G>T	ENST00000589042.1	-	294	57714	c.57490C>A	c.(57490-57492)Ctt>Att	p.L19164I	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L17523I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L10099I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L10224I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16596I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10291I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17523	Ig-like 108.						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)			TTTTTGGCAAGAAGAGAATAG	0.398000													3	19					0.115264	0.118489	1	1	0
SELENBP1	8991	broad.mit.edu	37	1	151337030	151337030	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:151337030T>G	ENST00000435071.1	-	12	1678	c.1216A>C	c.(1216-1218)Atc>Ctc	p.I406L	SELENBP1_ENST00000447402.3_Missense_Mutation_p.I408L|SELENBP1_ENST00000426705.2_Missense_Mutation_p.I512L|SELENBP1_ENST00000368868.5_Missense_Mutation_p.I470L			Q13228	SBP1_HUMAN	selenium binding protein 1	470					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAAATCCAGATGTCAGAGCTA	0.587000													25	147					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096967	107096967	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:107096967C>A	ENST00000261058.1	+	1	780	c.533C>A	c.(532-534)aCt>aAt	p.T178N		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	178										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CAACCAGCAACTCTGAAGAAC	0.423000													23	54					2.39556e-15	3.93823e-15	1	1	0
RIPK4	54101	broad.mit.edu	37	21	43166827	43166827	+	Missense_Mutation	SNP	G	G	T	rs149749209		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:43166827G>T	ENST00000352483.2	-	5	842	c.778C>A	c.(778-780)Cgc>Agc	p.R260S	RIPK4_ENST00000544709.1_Missense_Mutation_p.R197S|RIPK4_ENST00000332512.3_Missense_Mutation_p.R260S|RIPK4_ENST00000542057.1_Missense_Mutation_p.R197S			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	260						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCATGAGGCGTATCAGGTGG	0.672000													4	92					0.00024832	0.00027829	1	1	0
MCM6	4175	broad.mit.edu	37	2	136630325	136630325	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:136630325C>T	ENST00000264156.2	-	2	256	c.196G>A	c.(196-198)Gtg>Atg	p.V66M		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	66					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)	TCCAGGTCCACAAAACTCACA	0.403000													16	71					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616714	248616714	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248616714C>A	ENST00000342927.3	+	1	638	c.616C>A	c.(616-618)Ctg>Atg	p.L206M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCTGCGTGCTGATGCTGCT	0.527000													30	69					6.9144e-35	1.30126e-34	1	1	0
PUS7	54517	broad.mit.edu	37	7	105148818	105148818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:105148818G>A	ENST00000356362.2	-	2	356	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	PUS7_ENST00000469408.1_Nonsense_Mutation_p.Q48*	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	48					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AAGTCATTCTGTAGCCCATCT	0.478000													22	123					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18787304	18787304	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:18787304G>C	ENST00000396576.2	+	3	690	c.189G>C	c.(187-189)gcG>gcC	p.A63A	CACNB2_ENST00000324631.7_Silent_p.A118A|CACNB2_ENST00000377315.4_Silent_p.A70A|CACNB2_ENST00000377319.3_Silent_p.A63A|CACNB2_ENST00000377331.2_Silent_p.A90A|CACNB2_ENST00000377329.4_Silent_p.A64A|CACNB2_ENST00000352115.6_Silent_p.A118A|CACNB2_ENST00000282343.8_Silent_p.A90A|CACNB2_ENST00000377328.1_Silent_p.A118A	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	118					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGCATTTGCGGTTCGGACAA	0.448000													7	34					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103174805	103174805	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:103174805C>A	ENST00000262241.6	+	6	890	c.664C>A	c.(664-666)Cca>Aca	p.P222T	RCOR1_ENST00000570597.1_Missense_Mutation_p.P219T	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	219	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TGTTTAGCTTCCAGATAAATC	0.378000													35	119					3.43241e-23	6.21069e-23	1	1	0
DZIP3	9666	broad.mit.edu	37	3	108363053	108363053	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:108363053A>T	ENST00000361582.3	+	14	1414	c.1184A>T	c.(1183-1185)cAt>cTt	p.H395L	DZIP3_ENST00000463306.1_Missense_Mutation_p.H395L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	395					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TATTTCTATCATCTGCTTCAT	0.308000													8	25					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070775	197070775	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:197070775C>A	ENST00000367409.4	-	18	7862	c.7606G>T	c.(7606-7608)Gtt>Ttt	p.V2536F	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2536	IQ 27.				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						GCCTGAATAACCACAGCAGAA	0.343000													6	96					5.18039e-06	6.24455e-06	1	1	0
VPS11	55823	broad.mit.edu	37	11	118944508	118944508	+	Splice_Site	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:118944508A>T	ENST00000300793.6	+	8	1125		c.e8-1		VPS11_ENST00000527798.1_Splice_Site	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)						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)		CTTCCCTTCTAGATGCTGTTT	0.448000													3	20					0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96967138	96967138	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:96967138T>A	ENST00000341686.3	+	4	702	c.577T>A	c.(577-579)Tat>Aat	p.Y193N	C10orf129_ENST00000394005.3_Missense_Mutation_p.Y193N|C10orf129_ENST00000430183.1_Missense_Mutation_p.Y38N	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	193					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		AGATAAGAGCTATGATGGGTG	0.433000													17	64					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466309	10466309	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:10466309C>A	ENST00000382483.3	-	4	5522	c.5299G>T	c.(5299-5301)Gca>Tca	p.A1767S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1767					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGAGCCATTGCATCTCCCTCT	0.587000													32	201					6.90743e-12	1.03857e-11	1	1	0
CDC37	11140	broad.mit.edu	37	19	10505933	10505933	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:10505933T>C	ENST00000222005.2	-	4	627	c.574A>G	c.(574-576)Att>Gtt	p.I192V		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	192					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		ATGCACCAAATGACCAGGTAA	0.582000													34	175					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642334	156642334	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:156642334A>G	ENST00000368223.3	-	4	1778	c.1646T>C	c.(1645-1647)cTg>cCg	p.L549P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	549	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)					CTCCTCTCCCAGAGACTTCAG	0.458000													23	31					0	0	1	0	0
N4BP2L1	90634	broad.mit.edu	37	13	32978379	32978379	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:32978379G>A	ENST00000380139.4	-	4	476	c.426C>T	c.(424-426)ttC>ttT	p.F142F	N4BP2L1_ENST00000459716.1_Intron|N4BP2L1_ENST00000380133.2_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000530622.2_Intron	NM_001079691.1	NP_001073159.1	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	142					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TTTCCAGCCTGAAAAGATTCT	0.353000													3	41					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250364	177250364	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:177250364G>T	ENST00000361539.4	+	8	2364	c.2052G>T	c.(2050-2052)caG>caT	p.Q684H	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		684						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACACCTTGCAGGTCTTTGGCT	0.478000													21	128					2.32416e-17	3.95154e-17	1	1	0
DMD	1756	broad.mit.edu	37	X	32867934	32867934	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:32867934C>A	ENST00000357033.4	-	3	303	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	DMD_ENST00000288447.4_Missense_Mutation_p.G25W|DMD_ENST00000378677.2_Missense_Mutation_p.G29W	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	33	Actin-binding.|CH 1.		Missing (in BMD).		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)				TGCTGCTTCCCAAACTGAAAT	0.403000													10	29					2.17888e-05	2.55361e-05	1	1	0
TLR4	7099	broad.mit.edu	37	9	120476891	120476891	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:120476891A>C	ENST00000355622.6	+	3	2586	c.2485A>C	c.(2485-2487)Aca>Cca	p.T829P	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.T789P	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	829					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						AACAGTGGGTACAGGATGCAA	0.493000													9	77					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970762	57970762	+	Missense_Mutation	SNP	T	T	A	rs139372504		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:57970762T>A	ENST00000302592.6	-	1	891	c.892A>T	c.(892-894)Atg>Ttg	p.M298L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	298					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)				AAGGGGTTCATCATGGGTGTC	0.468000													9	116					0	0	1	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326802	89326802	+	RNA	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:89326802C>A	ENST00000483158.1	-	0	257																											CTGTTGGATGCATCATAGATG	0.567000													12	58					7.03913e-09	9.54745e-09	1	1	0
GPX6	257202	broad.mit.edu	37	6	28478652	28478652	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:28478652G>T	ENST00000361902.1	-	2	166	c.117C>A	c.(115-117)acC>acA	p.T39T	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000474923.1_Silent_p.T39T	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	39					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)	ACTCATAGATGGTGCCTGTTA	0.423000													11	37					0.0931896	0.0967385	1	1	0
TEX15	56154	broad.mit.edu	37	8	30703740	30703740	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:30703740G>A	ENST00000256246.2	-	1	2868	c.2794C>T	c.(2794-2796)Cat>Tat	p.H932Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	932										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)		AAATCTTTATGTGGTATGTTC	0.343000													22	94					0	0	1	0	0
CYB561D1	284613	broad.mit.edu	37	1	110038606	110038606	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:110038606G>A	ENST00000420578.2	+	3	455	c.415G>A	c.(415-417)Gct>Act	p.A139T	CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000528785.1_Missense_Mutation_p.A139T|CYB561D1_ENST00000393709.3_Missense_Mutation_p.A82T|CYB561D1_ENST00000369868.3_Missense_Mutation_p.A161T|CYB561D1_ENST00000430195.2_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	139	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCTGGCCACTGCTGTCCAGGC	0.632000													8	58					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5355642	5355642	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:5355642C>A	ENST00000399537.4	-	25	7155	c.6807G>T	c.(6805-6807)acG>acT	p.T2269T	TNRC18_ENST00000430969.1_Silent_p.T2269T			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2269							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGATCCTGCCCGTGTCTCCGT	0.617000													9	44					3.86212e-05	4.47667e-05	1	1	0
CHL1	10752	broad.mit.edu	37	3	439977	439977	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:439977G>T	ENST00000256509.2	+	25	3804	c.3162G>T	c.(3160-3162)gaG>gaT	p.E1054D	CHL1_ENST00000397491.2_Missense_Mutation_p.E1038D	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	1038					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)		AGGTATTTGAGCCGGGAGCTG	0.378000													12	38					2.27111e-07	2.86431e-07	1	1	0
PLTP	5360	broad.mit.edu	37	20	44540106	44540106	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:44540106G>T	ENST00000542937.1	-	1	580	c.46C>A	c.(46-48)Cca>Aca	p.P16T	PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372431.3_Intron|PLTP_ENST00000477313.1_5'UTR|PLTP_ENST00000354050.4_Intron			P55058	PLTP_HUMAN	phospholipid transfer protein	0					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGCGGGCCTGGGGGTGGGGTG	0.612000													6	35					8.12818e-05	9.23161e-05	1	1	0
DUOX2	50506	broad.mit.edu	37	15	45396433	45396433	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:45396433A>T	ENST00000389039.6	-	19	2850	c.2465T>A	c.(2464-2466)aTg>aAg	p.M822K	DUOX2_ENST00000603300.1_Missense_Mutation_p.M822K			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	822	EF-hand 1.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTCCACAAACATGTCCTGGGG	0.602000													4	30					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33500974	33500974	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:33500974G>T	ENST00000404816.2	+	18	3329	c.2976G>T	c.(2974-2976)caG>caT	p.Q992H	LTBP1_ENST00000354476.3_Missense_Mutation_p.Q993H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q666H|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q613H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q613H|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q666H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q667H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	992	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCATGACTCAGAGAGGCCGTT	0.577000													13	85					1.05317e-09	1.4613e-09	1	1	0
FGFR4	2264	broad.mit.edu	37	5	176520169	176520169	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:176520169C>A	ENST00000292408.4	+	9	1333	c.1088C>A	c.(1087-1089)cCc>cAc	p.P363H	FGFR4_ENST00000502906.1_Missense_Mutation_p.P363H|FGFR4_ENST00000393648.2_Missense_Mutation_p.P363H|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000292410.3_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	363					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCAGCAGCGCCCGAGGCCAGG	0.662000										TSP Lung(9;0.080)			13	33					1.5842e-08	2.11812e-08	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64633707	64633707	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:64633707C>A	ENST00000498707.1	-	11	1961	c.1619G>T	c.(1618-1620)cGg>cTg	p.R540L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R512L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	540	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCACCAGAGCCGTCTGCACTG	0.473000													23	89					7.92952e-12	1.17758e-11	1	1	0
C17orf78	284099	broad.mit.edu	37	17	35733069	35733069	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:35733069C>A	ENST00000300618.4	+	1	85	c.35C>A	c.(34-36)gCa>gAa	p.A12E	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.A12E|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	12						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				CTAATCATTGCATCCTATGAT	0.458000													7	47					0.00448238	0.00484349	1	1	0
ENOX1	55068	broad.mit.edu	37	13	43935525	43935525	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:43935525T>C	ENST00000261488.6	-	6	849	c.272A>G	c.(271-273)aAc>aGc	p.N91S	ENOX1_ENST00000412891.1_Missense_Mutation_p.N91S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	91	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TATCATTGGGTTAATGGGGGT	0.443000													19	61					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344078	248344078	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248344078C>A	ENST00000359682.2	+	1	791	c.791C>A	c.(790-792)tCt>tAt	p.S264Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	264					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)			CGGCCCACATCTGATCACTCC	0.522000													32	252					1.47244e-24	2.67573e-24	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248263103	248263103	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248263103G>T	ENST00000366478.2	+	3	763	c.426G>T	c.(424-426)aaG>aaT	p.K142N	OR2L13_ENST00000358120.2_Missense_Mutation_p.K142N	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	142					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)			TGTGTGTGAAGATGATTGGAG	0.488000													30	383					9.65021e-13	1.48803e-12	1	1	0
JAM3	83700	broad.mit.edu	37	11	134014219	134014219	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:134014219C>A	ENST00000299106.4	+	4	499	c.340C>A	c.(340-342)Cgc>Agc	p.R114S	JAM3_ENST00000529443.2_Missense_Mutation_p.R159S|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	114	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AGCCCTTTATCGCTGTGAGGT	0.498000													17	66					7.45023e-12	1.11227e-11	1	1	0
SMURF1	57154	broad.mit.edu	37	7	98654860	98654860	+	Nonsense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:98654860G>C	ENST00000361125.1	-	5	690	c.371C>G	c.(370-372)tCa>tGa	p.S124*	SMURF1_ENST00000361368.2_Nonsense_Mutation_p.S124*|SMURF1_ENST00000480055.1_5'UTR	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	124					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ATCAGTATCTGAGGGGTTTAG	0.433000													5	163					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50818357	50818357	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:50818357G>C	ENST00000540145.1	+	12	2359	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Silent_p.L645L|CYLD_ENST00000566206.1_Silent_p.L645L|CYLD_ENST00000427738.3_Silent_p.L648L|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Silent_p.L648L|CYLD_ENST00000564326.1_Silent_p.L645L|CYLD_ENST00000398568.2_Silent_p.L645L|CYLD_ENST00000568704.2_Silent_p.L463L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	648					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTAATCCTCTGAGAATGTAAG	0.333000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				7	41					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974514	49974514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:49974514C>A	ENST00000555099.1	+	1	572	c.540C>A	c.(538-540)taC>taA	p.Y180*		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GTGATCTCTACACTTTGATCA	0.438000													14	122					1.33834e-09	1.84185e-09	1	1	0
LRR1	122769	broad.mit.edu	37	14	50081051	50081051	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:50081051G>C	ENST00000298288.6	+	4	1406	c.1082G>C	c.(1081-1083)aGa>aCa	p.R361T	LRR1_ENST00000318317.4_Missense_Mutation_p.K120N	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	361										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTTTGTGGAAGATTCTGTCTG	0.383000													3	48					0	0	1	0	0
PFN4	375189	broad.mit.edu	37	2	24342519	24342519	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:24342519G>C	ENST00000313213.4	-	4	660	c.289C>G	c.(289-291)Ctg>Gtg	p.L97V	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	97					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGATACAGATGGGTCTTC	0.468000													3	59					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090999	91090999	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:91090999C>A	ENST00000373094.1	+	1	1341	c.496C>A	c.(496-498)Cct>Act	p.P166T	PCDH11X_ENST00000361724.1_Missense_Mutation_p.P166T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P166T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P166T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P166T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P166T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P166T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P166T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P166T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	166	Cadherin 2.				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						GGCTGTTGATCCTGACGTAGG	0.343000													13	19					4.14922e-12	6.27207e-12	1	1	0
OR2B11	127623	broad.mit.edu	37	1	247614852	247614852	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:247614852A>C	ENST00000318749.6	-	1	456	c.433T>G	c.(433-435)Tgt>Ggt	p.C145G		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCTGCTGACAGAGAGCACGG	0.642000													8	81					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66136030	66136030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:66136030C>T	ENST00000360689.5	+	7	2394	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	FUT8_ENST00000358307.2_Nonsense_Mutation_p.Q94*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.Q223*|FUT8_ENST00000394585.1_Nonsense_Mutation_p.Q223*|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000557164.1_Nonsense_Mutation_p.Q60*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	223					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CTATGGCTGTCAGCTCCATCA	0.463000													12	43					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13438872	13438872	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:13438872C>A	ENST00000254508.5	-	3	503	c.421G>T	c.(421-423)Gcc>Tcc	p.A141S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	141					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)					GAGTCCAGGGCCTGGATCTTC	0.597000													8	33					3.09899e-07	3.891e-07	1	1	0
SIRPA	140885	broad.mit.edu	37	20	1902288	1902288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:1902288C>A	ENST00000358771.4	+	3	836	c.684C>A	c.(682-684)tgC>tgA	p.C228*	SIRPA_ENST00000356025.3_Nonsense_Mutation_p.C228*|SIRPA_ENST00000400068.3_Nonsense_Mutation_p.C228*	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	228	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AAGTCATCTGCGAGGTGGCCC	0.612000													13	63					2.5808e-16	4.31836e-16	1	1	0
GPR35	2859	broad.mit.edu	37	2	241569781	241569781	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:241569781G>T	ENST00000319838.5	+	6	1354	c.412G>T	c.(412-414)Gcg>Tcg	p.A138S	GPR35_ENST00000430267.1_Missense_Mutation_p.A138S|GPR35_ENST00000438013.2_Missense_Mutation_p.A169S|GPR35_ENST00000407714.1_Missense_Mutation_p.A138S|GPR35_ENST00000403859.1_Missense_Mutation_p.A138S	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	138						integral to plasma membrane	G-protein coupled receptor activity	p.A138T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGCCGTGTGCGCGGTCCTCTG	0.706000													3	31					6.4e-05	7.35945e-05	1	1	0
ASTN1	460	broad.mit.edu	37	1	177001936	177001936	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:177001936A>T	ENST00000367654.2	-	3	534	c.521T>A	c.(520-522)cTg>cAg	p.L174Q	ASTN1_ENST00000367657.3_Missense_Mutation_p.L174Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.L174Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.L174Q|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	174					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						GCGAGTATACAGGATCATCAC	0.582000													9	85					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	401567	401567	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:401567G>T	ENST00000380956.4	+	7	1015	c.889G>T	c.(889-891)Gac>Tac	p.D297Y		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	297					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CTACCCAGAGGACAATGGCCA	0.607000			T	IGH@	MM								5	50					2.7689e-08	3.6501e-08	1	1	0
GOLGA3	2802	broad.mit.edu	37	12	133384862	133384862	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:133384862C>A	ENST00000204726.3	-	5	1351	c.793G>T	c.(793-795)Gct>Tct	p.A265S	GOLGA3_ENST00000545875.1_Missense_Mutation_p.A265S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A265S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.A265S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A265S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	265					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCGGGAGCCGGGACATTT	0.527000													34	152					1.59361e-14	2.54075e-14	1	1	0
APP	351	broad.mit.edu	37	21	27328036	27328036	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:27328036C>T	ENST00000358918.3	-	12	1691	c.1492G>A	c.(1492-1494)Gtc>Atc	p.V498I	APP_ENST00000346798.3_Missense_Mutation_p.V498I|APP_ENST00000348990.5_Missense_Mutation_p.V423I|APP_ENST00000357903.3_Missense_Mutation_p.V479I|APP_ENST00000448388.2_Missense_Mutation_p.V388I|APP_ENST00000359726.3_Missense_Mutation_p.V442I|APP_ENST00000354192.3_Missense_Mutation_p.V367I|APP_ENST00000439274.2_Missense_Mutation_p.V442I|APP_ENST00000440126.3_Missense_Mutation_p.V474I	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	498	Heparin-binding.				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)				TCTGCGCGGACATACTTCTTT	0.483000													26	57					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916178	131916178	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:131916178G>C	ENST00000286355.5	-	7	3843	c.1751C>G	c.(1750-1752)aCt>aGt	p.T584S	ADCY8_ENST00000377928.3_Missense_Mutation_p.T584S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	584					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATTAAGTAAGTTTCGATATT	0.483000										HNSCC(32;0.087)			12	103					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561032	9561032	+	Silent	SNP	C	C	T	rs144202772	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:9561032C>T	ENST00000378429.3	-	5	1296	c.750G>A	c.(748-750)ctG>ctA	p.L250L	PAK7_ENST00000378423.1_Silent_p.L250L|PAK7_ENST00000353224.5_Silent_p.L250L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	250	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CACTGTACGCCAGGCTCTCCT	0.552000													10	63					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31388167	31388167	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:31388167A>T	ENST00000268296.4	+	21	2677	c.2556A>T	c.(2554-2556)ccA>ccT	p.P852P	ITGAX_ENST00000562522.1_Silent_p.P852P	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	852					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACAGCGCCCCAGTTGGGAGCC	0.562000													14	60					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136704871	136704871	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:136704871T>C	ENST00000354570.3	-	6	985	c.575A>G	c.(574-576)gAt>gGt	p.D192G	MAP7_ENST00000438100.2_Intron|MAP7_ENST00000454590.1_Missense_Mutation_p.D214G|MAP7_ENST00000432797.2_Missense_Mutation_p.D46G|MAP7_ENST00000544465.1_Missense_Mutation_p.D177G	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	192					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)		AATGACGGGATCAACATATTT	0.393000													18	43					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466285	120466285	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:120466285C>T	ENST00000256646.2	-	26	5053	c.4834G>A	c.(4834-4836)Ggt>Agt	p.G1612S	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1612	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGTTCACCAGGAAGGGAT	0.468000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				14	77					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746577	94746577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:94746577G>A	ENST00000399300.2	-	3	2275	c.2062C>T	c.(2062-2064)Cag>Tag	p.Q688*	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	688							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CATTCTCCCTGAAGAGGCCGC	0.622000													6	210					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46345813	46345813	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:46345813T>A	ENST00000339464.4	-	2	659	c.285A>T	c.(283-285)caA>caT	p.Q95H	WNT7B_ENST00000410058.1_Missense_Mutation_p.Q95H|WNT7B_ENST00000409496.3_Missense_Mutation_p.Q99H|WNT7B_ENST00000410089.1_Missense_Mutation_p.Q79H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	95					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGGAGCTCTTGCCCGAAGA	0.662000													9	38					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674029	70674029	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:70674029G>T	ENST00000260126.3	-	3	1695	c.989C>A	c.(988-990)cCc>cAc	p.P330H	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P330H|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P330H|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	330						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGGATTTCTGGGATCAACATA	0.388000													11	30					4.68919e-08	6.09595e-08	1	1	0
POPDC2	64091	broad.mit.edu	37	3	119367326	119367326	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:119367326G>A	ENST00000493094.1	-	3	1249	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000264231.3_Missense_Mutation_p.L264F|POPDC2_ENST00000468801.1_Missense_Mutation_p.L264F|POPDC2_ENST00000538678.1_Missense_Mutation_p.L264F			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	264						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGGCTGGGAAGGCGGATGTCA	0.557000													9	65					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109654632	109654632	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:109654632G>T	ENST00000338432.7	+	24	3590	c.3471G>T	c.(3469-3471)agG>agT	p.R1157S	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.R1157S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1157					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TAAACCTCAGGGAGCAGTTCA	0.557000													13	91					9.05144e-12	1.34184e-11	1	1	0
TCF20	6942	broad.mit.edu	37	22	42605808	42605808	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:42605808C>A	ENST00000359486.3	-	1	5640	c.5504G>T	c.(5503-5505)gGc>gTc	p.G1835V	TCF20_ENST00000335626.4_Missense_Mutation_p.G1835V|TCF20_ENST00000404876.1_Missense_Mutation_p.G136V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGCTCAGGGCCACCTTCTGA	0.517000													46	135					4.53422e-39	8.57139e-39	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173949963	173949963	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:173949963T>A	ENST00000367696.2	-	6	1304	c.953A>T	c.(952-954)cAg>cTg	p.Q318L	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q318L|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q318L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	318					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						AATAATGGACTGCATATGAGA	0.388000													14	26					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14798905	14798905	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:14798905C>A	ENST00000253697.3	+	13	2420	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	C3orf20_ENST00000435614.1_Silent_p.P534P|C3orf20_ENST00000412910.1_Silent_p.P534P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	656						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						GGCGCAGCCCCACCAGGTGGG	0.672000													5	18					1.23904e-05	1.46227e-05	1	1	0
BTN1A1	696	broad.mit.edu	37	6	26509394	26509394	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:26509394G>C	ENST00000244513.6	+	7	1639	c.1573G>C	c.(1573-1575)Gca>Cca	p.A525P		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	525						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						CAGCCAAGGGGCACCTTAAGG	0.517000													21	84					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815224	147815224	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:147815224G>A	ENST00000361727.3	+	16	2914	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	800	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			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)			TTATTGGAATGCCGCCTCTTT	0.428000										HNSCC(39;0.1)			5	128					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39764137	39764137	+	Missense_Mutation	SNP	G	G	T	rs142653668	by1000genomes	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:39764137G>T	ENST00000553728.1	+	12	2394	c.2181G>T	c.(2179-2181)atG>atT	p.M727I	CTAGE5_ENST00000556148.1_Missense_Mutation_p.M117I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.M163I|CTAGE5_ENST00000280083.3_Missense_Mutation_p.M192I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.M180I|CTAGE5_ENST00000348007.3_Missense_Mutation_p.M192I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.M112I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.M163I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.M197I|CTAGE5_ENST00000341502.5_Missense_Mutation_p.M192I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.M163I																							AGGCCAAAATGACCTTCAAGA	0.308000													12	56					9.31168e-06	1.1145e-05	1	1	0
C1orf116	79098	broad.mit.edu	37	1	207198390	207198390	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:207198390A>C	ENST00000359470.5	-	3	374	c.125T>G	c.(124-126)tTc>tGc	p.F42C	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	42						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGTGGACAGGAAGTCGTAGCT	0.612000													28	47					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125154703	125154703	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:125154703G>T	ENST00000362012.2	+	11	1685	c.1680G>T	c.(1678-1680)acG>acT	p.T560T	PTGS1_ENST00000373698.5_Silent_p.T451T|PTGS1_ENST00000223423.4_Silent_p.T523T|PTGS1_ENST00000540753.1_Silent_p.T498T	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	560					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTGTCAAGACGGCCACACTGA	0.567000													19	66					2.4624e-09	3.36687e-09	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158623125	158623125	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:158623125G>A	ENST00000368148.3	-	22	3307	c.3127C>T	c.(3127-3129)Cca>Tca	p.P1043S	SPTA1_ENST00000368147.3_Missense_Mutation_p.P1043S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1043					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)					CGCCGCTGTGGGAGCATCGGG	0.552000													25	123					0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6730267	6730267	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:6730267C>A	ENST00000329858.4	-	2	904	c.148G>T	c.(148-150)Gcg>Tcg	p.A50S	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.A50S	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	50						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACGCGCAGCGCGCGCAGGAAG	0.652000													3	14					0.115264	0.118489	1	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24200868	24200868	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:24200868G>T	ENST00000382263.3	+	5	566	c.382G>T	c.(382-384)Gtc>Ttc	p.V128F	TNFRSF19_ENST00000382258.4_Missense_Mutation_p.V128F|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.V128F|TNFRSF19_ENST00000403372.2_5'UTR	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	128					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GACGAAACTTGTCGGCTTTCA	0.463000													6	28					1.12685e-05	1.34111e-05	1	1	0
FXYD5	53827	broad.mit.edu	37	19	35655040	35655040	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:35655040G>T	ENST00000392217.3	+	1	103	c.61G>T	c.(61-63)Gat>Tat	p.D21Y	FXYD5_ENST00000342879.3_Intron|FXYD5_ENST00000591716.2_Intron|FXYD5_ENST00000588699.1_Intron|FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000392219.2_Intron|FXYD5_ENST00000543307.1_Intron|FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000590686.1_Intron			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	92					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCCCTCCACTGATCTGGCCAC	0.557000													12	50					2.68362e-12	4.08587e-12	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67147567	67147567	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:67147567C>A	ENST00000371037.4	+	15	907	c.830C>A	c.(829-831)gCc>gAc	p.A277D	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A281D	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	277	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.A277D(1)		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						GACCAGTCAGCCACAGAGGTC	0.403000													17	100					9.16793e-09	1.23752e-08	1	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735793	55735793	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55735793G>C	ENST00000312345.2	-	1	197	c.147C>G	c.(145-147)ccC>ccG	p.P49P		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	49					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)					AAAAATACATGGGAGTCTGGA	0.333000													16	67					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139222088	139222088	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:139222088C>G	ENST00000423192.1	+	20	2579	c.2418C>G	c.(2416-2418)ctC>ctG	p.L806L	ECT2L_ENST00000541398.1_Silent_p.L660L|ECT2L_ENST00000367682.2_Silent_p.L806L			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	806					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						AACACAGGCTCTATGAACACA	0.393000			"""N, Splice, Mis"""		ETP ALL								4	22					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11362386	11362386	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:11362386C>A	ENST00000227756.4	-	7	1669	c.1258G>T	c.(1258-1260)Gca>Tca	p.A420S		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		ATGTTCCATGCCATGTAGACG	0.522000													23	247					4.26978e-12	6.4313e-12	1	1	0
LGALS4	3960	broad.mit.edu	37	19	39303124	39303124	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:39303124G>C	ENST00000307751.4	-	2	558	c.81C>G	c.(79-81)ctC>ctG	p.L27L	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	27	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCCCACGTTGAGCCCGCCCG	0.612000													7	87					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585608	20585608	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:20585608C>A	ENST00000315543.4	+	1	43	c.43C>A	c.(43-45)Ctt>Att	p.L15I		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	0					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)		TATGAGTGATCTTTTCTTTCT	0.373000													5	44					0.014758	0.0155687	1	1	0
SLC5A7	60482	broad.mit.edu	37	2	108622574	108622574	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:108622574C>A	ENST00000264047.2	+	7	1087	c.811C>A	c.(811-813)Caa>Aaa	p.Q271K	SLC5A7_ENST00000409059.1_Missense_Mutation_p.Q271K|SLC5A7_ENST00000540517.1_Missense_Mutation_p.Q166K	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	271					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)	CACCTATGCTCAAGTGCTGTC	0.537000													23	78					7.92952e-12	1.17758e-11	1	1	0
ERCC4	2072	broad.mit.edu	37	16	14015915	14015915	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:14015915G>A	ENST00000311895.7	+	2	244	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	ERCC4_ENST00000575156.1_Missense_Mutation_p.E79K	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	79					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						GCTGAAGATAGAAGGAGTTGA	0.358000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	26					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198259	58198259	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:58198259C>T	ENST00000282296.5	+	3	801	c.616C>T	c.(616-618)Cac>Tac	p.H206Y	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H190Y|AC003006.7_ENST00000596085.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	206					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)		TGAGGAGCCACACAGTAGCAG	0.483000													30	94					0	0	1	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449546	124449546	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:124449546G>T	ENST00000523984.1	+	5	528	c.300G>T	c.(298-300)ccG>ccT	p.P100P	WDYHV1_ENST00000518125.1_Silent_p.P12P|WDYHV1_ENST00000287387.2_Silent_p.P160P|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Silent_p.P160P			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	160					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GAGAGCCTCCGCCGCCATATC	0.473000													6	40					0.217242	0.220637	1	1	0
PRC1	9055	broad.mit.edu	37	15	91510376	91510376	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:91510376G>C	ENST00000361188.5	-	14	3017	c.1806C>G	c.(1804-1806)acC>acG	p.T602T	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.T616T|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000442656.2_3'UTR|PRC1_ENST00000361919.3_3'UTR			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	616	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACTGGATGTTGGTTGAATTGA	0.438000													10	80					0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205655	36205655	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:36205655C>G	ENST00000392197.2	+	3	445	c.127C>G	c.(127-129)Cac>Gac	p.H43D	ZBTB32_ENST00000262630.3_Missense_Mutation_p.H43D			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	43	BTB.				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)			GTTCCCCGCCCACAGCCTGGT	0.637000													9	38					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827880	52827880	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:52827880C>A	ENST00000252245.5	-	1	429	c.209G>T	c.(208-210)cGg>cTg	p.R70L		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	70	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GATGGAGACCCGCTTGGCACC	0.632000													14	79					6.81908e-15	1.11024e-14	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36340164	36340164	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:36340164G>T	ENST00000378910.5	-	7	813	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	NPHS1_ENST00000353632.6_Missense_Mutation_p.P272T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	272	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGCTAAGGGATTACCCCCT	0.677000													7	51					0.00198382	0.00215743	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20696590	20696590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:20696590G>A	ENST00000307493.4	-	2	395	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Nonsense_Mutation_p.Q110*	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	110					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						TGGTCTCCCTGTTGTAGGCCA	0.572000													12	99					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337182	162337182	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:162337182G>T	ENST00000493151.1	+	2	2928	c.561G>T	c.(559-561)gaG>gaT	p.E187D	RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E482D|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E477D|NOS1AP_ENST00000454693.1_3'UTR	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	482	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GGTCCCAGGAGGAGCTGCCGC	0.647000													9	6					1.58986e-06	1.95267e-06	1	1	0
MUC17	140453	broad.mit.edu	37	7	100682521	100682521	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:100682521T>A	ENST00000306151.4	+	3	7888	c.7824T>A	c.(7822-7824)tcT>tcA	p.S2608S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2608	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)					TCACCACTTCTACTGAAACCA	0.443000													64	416					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616900	25616900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:25616900C>A	ENST00000232165.3	-	6	1077	c.421G>T	c.(421-423)Gag>Tag	p.E141*	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Nonsense_Mutation_p.E121*|UBE3A_ENST00000438097.1_Nonsense_Mutation_p.E121*|UBE3A_ENST00000566215.1_Nonsense_Mutation_p.E121*|UBE3A_ENST00000397954.2_Nonsense_Mutation_p.E144*	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	144					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			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)		GAATAATCCTCTCTTTCTCTA	0.343000													3	32					0.004672	0.0050291	1	1	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							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)					AACAGGCACAGTTTCTCTCTC	0.463000													6	150					0	0	1	0	0
FAM114A2	10827	broad.mit.edu	37	5	153382473	153382473	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:153382473C>T	ENST00000351797.4	-	10	1126	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	FAM114A2_ENST00000522858.1_Silent_p.E350E|FAM114A2_ENST00000520313.1_Silent_p.E280E|FAM114A2_ENST00000520667.1_Silent_p.E350E	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	350							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTTCTTCATTCTCTGCTAATG	0.373000													7	94					0	0	1	0	0
C12orf45	121053	broad.mit.edu	37	12	105385610	105385610	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:105385610G>T	ENST00000552951.1	+	3	366	c.323G>T	c.(322-324)aGt>aTt	p.S108I	C12orf45_ENST00000280749.5_Intron	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	108										large_intestine(1)|lung(2)	3						GGGCCTCATAGTAAAGTTATA	0.378000													3	35					0.150653	0.154306	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	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	89					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654948	247654948	+	RNA	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:247654948G>T	ENST00000522351.1	+	0	579							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)			GACGTCGCAGGGTGGACCACT	0.567000													26	131					7.01153e-11	1.02327e-10	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130400428	130400428	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:130400428C>A	ENST00000356763.3	-	17	4172	c.3615G>T	c.(3613-3615)caG>caT	p.Q1205H	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1205					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CGTTGTTGCCCTGAACAGCTA	0.438000													5	53					0.00116845	0.00128059	1	1	0
FLG	2312	broad.mit.edu	37	1	152283290	152283290	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152283290C>T	ENST00000368799.1	-	3	4107	c.4072G>A	c.(4072-4074)Gga>Aga	p.G1358R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1358	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)			TGGCGGGATCCATGTCTTTCT	0.547000									Ichthyosis				126	897					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4204256	4204256	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:4204256C>A	ENST00000296358.4	-	4	673	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	217					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGAGGACGCCATTGGCCCAC	0.522000													22	106					7.07758e-08	9.17263e-08	1	1	0
GPR45	11250	broad.mit.edu	37	2	105858998	105858998	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:105858998G>T	ENST00000258456.1	+	1	799	c.683G>T	c.(682-684)cGc>cTc	p.R228L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	228						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AACGCCGTGCGCGTGCACAAC	0.652000													8	57					5.18039e-06	6.24455e-06	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130400427	130400427	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:130400427C>A	ENST00000356763.3	-	17	4173	c.3616G>T	c.(3616-3618)Ggc>Tgc	p.G1206C	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1206					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TCGTTGTTGCCCTGAACAGCT	0.438000													5	54					0.00116845	0.00128059	1	1	0
USP49	25862	broad.mit.edu	37	6	41774562	41774562	+	Missense_Mutation	SNP	C	C	T	rs144313199		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:41774562C>T	ENST00000394253.3	-	3	489	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	USP49_ENST00000297229.2_Missense_Mutation_p.A54T|USP49_ENST00000373010.1_Missense_Mutation_p.A54T|USP49_ENST00000373006.1_Missense_Mutation_p.A54T|USP49_ENST00000373009.3_Missense_Mutation_p.A54T			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	54					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTTTCAGGGCGTGGTCCTCA	0.577000													11	134					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21926894	21926894	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:21926894C>A	ENST00000358296.6	-	4	445	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	ZNF100_ENST00000305570.6_Missense_Mutation_p.D19Y	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	83	KRAB.				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						GTGATCAGGTCTGGCTTAGTG	0.408000													15	109					1.99824e-07	2.5315e-07	1	1	0
PCLO	27445	broad.mit.edu	37	7	82474737	82474737	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:82474737T>A	ENST00000423517.2	-	13	14233	c.13896A>T	c.(13894-13896)tcA>tcT	p.S4632S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.S4632S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4520	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGCTGTAGTGAAACCTTCT	0.468000													6	19					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52773741	52773741	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:52773741G>A	ENST00000216862.3	-	11	1915	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S	CYP24A1_ENST00000460643.1_5'UTR|CYP24A1_ENST00000395955.3_Missense_Mutation_p.P442S|CYP24A1_ENST00000395954.3_Missense_Mutation_p.P366S	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	508					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AACGCGATGGGGAGTTCCCGG	0.537000													6	29					0	0	1	0	0
PPP3R1	5534	broad.mit.edu	37	2	68415789	68415789	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:68415789C>A	ENST00000234310.3	-	3	480	c.77G>T	c.(76-78)aGa>aTa	p.R26I	PPP3R1_ENST00000409377.1_Missense_Mutation_p.R16I|PPP3R1_ENST00000409752.1_Missense_Mutation_p.R45I	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	26	EF-hand 1.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	CTTCTTAAATCTCTTTCCTAG	0.358000													5	13					0.184627	0.188646	1	1	0
ZSWIM3	140831	broad.mit.edu	37	20	44507109	44507109	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:44507109C>A	ENST00000255152.2	+	2	2121	c.1912C>A	c.(1912-1914)Ctg>Atg	p.L638M	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.L632M	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	638							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGGGCCAGAGCTGGAGGAACG	0.572000													20	194					2.89027e-11	4.26226e-11	1	1	0
SVIL	6840	broad.mit.edu	37	10	29813479	29813479	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:29813479C>T	ENST00000375398.2	-	16	2957	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	SVIL_ENST00000375400.3_Silent_p.R410R|SVIL_ENST00000355867.4_Silent_p.R836R			O95425	SVIL_HUMAN	supervillin	836					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.R836R(1)		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)				CTATTCTGTTCCGGGTAGAAA	0.498000													19	73					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004815	41004815	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:41004815A>G	ENST00000308423.2	+	1	1615	c.1455A>G	c.(1453-1455)atA>atG	p.I485M		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	485					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTGGGGCCATAGAAATACGAT	0.547000													16	91					0	0	1	0	0
PDPK1	5170	broad.mit.edu	37	16	2636732	2636732	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:2636732C>T	ENST00000342085.4	+	11	1330	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	PDPK1_ENST00000441549.3_Missense_Mutation_p.S394L|PDPK1_ENST00000389224.3_Missense_Mutation_p.S367L|PDPK1_ENST00000354836.5_Missense_Mutation_p.S370L|PDPK1_ENST00000268673.7_Missense_Mutation_p.S267L	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	394	Poly-Ser.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TCCTCCTCCTCACACTCCCTG	0.552000													4	123					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575104	48575104	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:48575104A>T	ENST00000342988.3	+	3	836	c.298A>T	c.(298-300)Agg>Tgg	p.R100W	SMAD4_ENST00000398417.2_Missense_Mutation_p.R100W|SMAD4_ENST00000452201.2_Missense_Mutation_p.R100W|SMAD4_ENST00000588745.1_Missense_Mutation_p.R100W|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	100	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCGTCTCTGGAGGTGGCCTGA	0.378000													20	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9003616	9003616	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:9003616G>A	ENST00000397910.4	-	49	40227	c.40024C>T	c.(40024-40026)Cgc>Tgc	p.R13342C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13344	SEA 9.				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						GAGCCAGGGCGACGCATGTCC	0.552000													10	250					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216921	1216921	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:1216921T>A	ENST00000304460.10	+	8	1090	c.1034T>A	c.(1033-1035)aTc>aAc	p.I345N		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	345					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGACCCTCATCAACGGGTTC	0.657000													23	184					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24421445	24421445	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:24421445C>A	ENST00000330966.7	-	9	991	c.829G>T	c.(829-831)Gtg>Ttg	p.V277L	MYOM3_ENST00000329601.7_Missense_Mutation_p.V276L|MYOM3_ENST00000374434.3_Missense_Mutation_p.V276L|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	276	Ig-like C2-type 2.									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)		GGCTTCAGCACCGAGGTGAAT	0.537000													10	23					3.86212e-05	4.47667e-05	1	1	0
OR11H6	122748	broad.mit.edu	37	14	20692357	20692357	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:20692357C>A	ENST00000315519.2	+	1	567	c.489C>A	c.(487-489)gtC>gtA	p.V163V		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	163					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)		TAATTCTGGTCTGTGTATGCT	0.463000													9	29					0.0477658	0.049707	1	1	0
FZD2	2535	broad.mit.edu	37	17	42635099	42635099	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:42635099C>A	ENST00000315323.3	+	1	175	c.43C>A	c.(43-45)Ctg>Atg	p.L15M		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	15					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		gctgccgctgctgctgctgcC	0.781000													4	20					0.00909568	0.00966774	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43770388	43770388	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:43770388G>T	ENST00000389420.3	-	33	5063	c.5064C>A	c.(5062-5064)tcC>tcA	p.S1688S		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1688	TSP type-1 15.					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)		ATAAGTCACTGGACAAACCAT	0.348000													7	24					0.0381472	0.0398448	1	1	0
ANKMY1	51281	broad.mit.edu	37	2	241468821	241468821	+	Missense_Mutation	SNP	T	T	A	rs141100581		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:241468821T>A	ENST00000391987.1	-	5	685	c.319A>T	c.(319-321)Acc>Tcc	p.T107S	ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.T196S|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.T107S|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000403283.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	107							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGGATCTGGGTGCACAGCTTG	0.592000													12	39					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273430	162273430	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:162273430C>T	ENST00000389554.3	+	1	826	c.509C>T	c.(508-510)cCc>cTc	p.P170L		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CAGGGATACCCCACGGCCGGC	0.647000													30	129					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49704215	49704215	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:49704215G>T	ENST00000433368.2	-	3	216	c.147C>A	c.(145-147)ccC>ccA	p.P49P	CRISP3_ENST00000393666.1_Silent_p.P26P|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000263045.4_Silent_p.P39P|CRISP3_ENST00000371159.4_Silent_p.P57P	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	26					innate immune response	proteinaceous extracellular matrix|specific granule		p.P26P(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CAGTAAAAGCGGGATCCTAAG	0.368000													41	128					8.94452e-30	1.66846e-29	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99764761	99764761	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:99764761G>C	ENST00000370185.3	+	4	1206	c.709G>C	c.(709-711)Gac>Cac	p.D237H	LPPR4_ENST00000370184.1_Missense_Mutation_p.D79H|LPPR4_ENST00000457765.1_Missense_Mutation_p.D237H	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		237							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)		CTCAGGATCTGACCTCACAGT	0.378000													10	34					0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77775776	77775776	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:77775776C>T	ENST00000268533.5	+	4	715	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000437314.3_Missense_Mutation_p.L163F|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	216					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	p.L216I(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TCAATTTAATCTTAATGATGT	0.378000													3	30					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154679441	154679441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:154679441C>A	ENST00000404039.1	+	23	2696	c.2109C>A	c.(2107-2109)taC>taA	p.Y703*	DPP6_ENST00000377770.3_Nonsense_Mutation_p.Y767*|DPP6_ENST00000332007.3_Nonsense_Mutation_p.Y705*|DPP6_ENST00000427557.1_Nonsense_Mutation_p.Y660*	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	767					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)			ACAGAGCATACGAGGTGTGTA	0.582000													37	250					2.58029e-29	4.79196e-29	1	1	0
XAB2	56949	broad.mit.edu	37	19	7688058	7688058	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:7688058C>T	ENST00000358368.4	-	9	1274	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	XAB2_ENST00000534844.1_Missense_Mutation_p.D410N	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	413					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GTGCTCACATCGTCCAGCTGT	0.522000								Direct reversal of damage;Nucleotide excision repair (NER)					6	73					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230691	56230691	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:56230691G>T	ENST00000279791.1	-	1	186	c.187C>A	c.(187-189)Cat>Aat	p.H63N		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AAAGACAGATGACTCAGGAAA	0.423000													7	28					5.18039e-06	6.24455e-06	1	1	0
KCTD19	146212	broad.mit.edu	37	16	67327654	67327654	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:67327654G>T	ENST00000304372.5	-	12	2066	c.2011C>A	c.(2011-2013)Ccc>Acc	p.P671T		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	671						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)		CTTCCCAAGGGGAGCTGCAGG	0.617000													22	84					9.95505e-16	1.66245e-15	1	1	0
BMP2K	55589	broad.mit.edu	37	4	79792103	79792103	+	Silent	SNP	G	G	A	rs141745080		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:79792103G>A	ENST00000335016.5	+	11	1564	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BMP2K_ENST00000502871.1_Silent_p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	466	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcagcaacagc	0.547000													4	32					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107756451	107756451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:107756451C>A	ENST00000388781.3	-	3	273	c.190G>T	c.(190-192)Gag>Tag	p.E64*	LAMB4_ENST00000414450.2_Nonsense_Mutation_p.E64*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.E64*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.E64*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	64	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAACCCACCTCCAGGTAACTG	0.478000													13	63					1.05317e-09	1.4613e-09	1	1	0
CCDC121	79635	broad.mit.edu	37	2	27850292	27850292	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:27850292C>G	ENST00000324364.3	-	2	555	c.375G>C	c.(373-375)caG>caC	p.Q125H	ZNF512_ENST00000556601.1_Intron|CCDC121_ENST00000394775.3_Missense_Mutation_p.Q287H|RP11-158I13.2_ENST00000505973.1_RNA	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	125										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TTGTCTCCTCCTGTAATGTCT	0.438000													7	138					0	0	1	0	0
TMEM223	79064	broad.mit.edu	37	11	62558318	62558318	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:62558318C>A	ENST00000307366.7	-	2	412	c.386G>T	c.(385-387)gGa>gTa	p.G129V	TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	129						integral to membrane											CTGCTGCCCTCCAGCTCGAAG	0.612000													6	10					0.00116845	0.00128059	1	1	0
TNR	7143	broad.mit.edu	37	1	175375626	175375626	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:175375626C>A	ENST00000367674.1	-	3	933	c.225G>T	c.(223-225)ttG>ttT	p.L75F	TNR_ENST00000263525.2_Missense_Mutation_p.L75F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	75					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGAGGTTGTCCAAGGGCACGT	0.562000													16	129					2.23348e-06	2.7273e-06	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768983	31768983	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:31768983G>T	ENST00000240587.4	-	2	2043	c.1716C>A	c.(1714-1716)ccC>ccA	p.P572P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	572					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)					TGGGTTTCAGGGGCGTGCTCT	0.592000													20	98					1.00905e-13	1.5819e-13	1	1	0
ESCO1	114799	broad.mit.edu	37	18	19153945	19153945	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:19153945T>C	ENST00000269214.5	-	4	1797	c.860A>G	c.(859-861)cAa>cGa	p.Q287R		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	287					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTATCACTTTGTTCAGGCAC	0.428000													19	37					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101759851	101759851	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:101759851C>A	ENST00000251127.6	-	22	2647	c.2566G>T	c.(2566-2568)Gca>Tca	p.A856S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	856						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGAAGCGTGCTCGGACCACC	0.498000													14	67					1.99824e-07	2.5315e-07	1	1	0
DNAI2	64446	broad.mit.edu	37	17	72297275	72297275	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:72297275G>T	ENST00000579490.1	+	7	1261	c.1126G>T	c.(1126-1128)Ggg>Tgg	p.G376W	DNAI2_ENST00000311014.6_Missense_Mutation_p.G319W|DNAI2_ENST00000582036.1_Missense_Mutation_p.G319W|DNAI2_ENST00000307504.5_Missense_Mutation_p.G176W|DNAI2_ENST00000446837.2_Missense_Mutation_p.G319W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	319					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAATGCCTTGGGGGCCATCTC	0.542000									Kartagener syndrome				47	176					1.54886e-18	2.671e-18	1	1	0
NIPA1	123606	broad.mit.edu	37	15	23049045	23049045	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:23049045C>A	ENST00000437912.2	-	5	1846	c.549G>T	c.(547-549)tcG>tcT	p.S183S	NIPA1_ENST00000538684.1_Silent_p.S88S|NIPA1_ENST00000337435.4_Silent_p.S258S|NIPA1_ENST00000561183.1_Silent_p.S183S			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	258					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCGAACACCGAGGAGTCGA	0.612000													8	33					0.000157383	0.000177082	1	1	0
OR10A7	121364	broad.mit.edu	37	12	55615705	55615705	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:55615705G>T	ENST00000326258.1	+	1	897	c.897G>T	c.(895-897)ggG>ggT	p.G299G		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AAGTGAAAGGGGCTGTCAAGA	0.438000													11	54					1.5842e-08	2.11812e-08	1	1	0
ZNF578	147660	broad.mit.edu	37	19	53013861	53013861	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:53013861C>A	ENST00000421239.2	+	6	471	c.227C>A	c.(226-228)tCa>tAa	p.S76*		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GAGGTCTTGTCAACAGGGCAA	0.383000													39	159					2.51966e-14	4.00963e-14	1	1	0
ZNF354A	6940	broad.mit.edu	37	5	178154111	178154111	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:178154111C>G	ENST00000335815.2	-	3	246	c.49G>C	c.(49-51)Gag>Cag	p.E17Q		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	17	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		GCCACATCCTCAAACGTCAGT	0.552000													12	62					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716158	50716158	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:50716158G>A	ENST00000449103.1	-	33	5198	c.5058C>T	c.(5056-5058)ctC>ctT	p.L1686L	PLXNB2_ENST00000359337.4_Silent_p.L1686L			O15031	PLXB2_HUMAN	plexin B2	1686					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGAACCGGAGCGGTAAGC	0.647000													8	129					0	0	1	0	0
RP11-54O7.16	0	broad.mit.edu	37	1	843940	843941	+	RNA	INS	-	-	GAT			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:843940_843941insGAT	ENST00000607769.1	+	0	124																											gcgggggagaggagggaaaagg	0.658													6	1	---	---	---	---					
CROCCP2	84809	broad.mit.edu	37	1	16958130	16958131	+	RNA	DEL	AA	AA	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:16958130_16958131delAA	ENST00000412962.1	-	0	74																											TGAGGGAGACAAAGAGTGGTCG	0.624													2	4	---	---	---	---					
RGS1	5996	broad.mit.edu	37	1	192545941	192545942	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:192545941_192545942insT	ENST00000367459.3	+	3	322_323	c.256_257insT	c.(256-258)ggafs	p.G86fs	RGS1_ENST00000469578.2_Frame_Shift_Ins_p.G86fs	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	86	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GTCTCAATCTCTGGAAAAACTT	0.322													11	120	---	---	---	---					
SHISA4	149345	broad.mit.edu	37	1	201859666	201859667	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:201859666_201859667insT	ENST00000362011.6	+	3	617_618	c.330_331insT	c.(328-333)tcgttgfs	p.L111fs	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	111						integral to membrane				kidney(1)|lung(4)	5						TCCTCTGTTCCTGTTGCTACCT	0.559													36	518	---	---	---	---					
GJC2	57165	broad.mit.edu	37	1	228345913	228345915	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:228345913_228345915delGAG	ENST00000366714.2	+	2	629_631	c.454_456delGAG	c.(454-456)del	p.E158del		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	158	Glu-rich.				cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GGGCCTGGGCgaggaggaggagg	0.788													3	3	---	---	---	---					
PUM2	23369	broad.mit.edu	37	2	20482888	20482899	+	In_Frame_Del	DEL	GCTGCTGTTGCT	GCTGCTGTTGCT	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:20482888_20482899delGCTGCTGTTGCT	ENST00000361078.2	-	11	1551_1562	c.1529_1540delAGCAACAGCAGC	c.(1528-1542)cca>c	p.QQQQP510del	PUM2_ENST00000319801.5_In_Frame_Del_p.QQQQP510del|PUM2_ENST00000403432.1_In_Frame_Del_p.QQQQP510del|PUM2_ENST00000338086.5_In_Frame_Del_p.QQQQP510del|PUM2_ENST00000536417.1_In_Frame_Del_p.QQQQP454del			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	510					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGTGCTTGGCTGCTGTTGCTGCTGCTGTGG	0.476													10	95	---	---	---	---					
DGKQ	1609	broad.mit.edu	37	4	960278	960279	+	Frame_Shift_Ins	INS	-	-	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:960278_960279insA	ENST00000273814.3	-	12	1476_1477	c.1403_1404insT	c.(1402-1404)cgafs	p.R468fs	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	468	Ras-associating.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTAGCCGGTCCAGCAGGGGCTG	0.688													14	79	---	---	---	---					
ATOH1	474	broad.mit.edu	37	4	94750174	94750174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:94750174delC	ENST00000306011.3	+	1	133	c.97delC	c.(97-99)cgfs	p.P35fs		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	35	Poly-Pro.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GCAACCGCCGCCGCCGCCGCA	0.667													9	39	---	---	---	---					
CDH18	1016	broad.mit.edu	37	5	19747127	19747127	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:19747127delC	ENST00000507958.1	-	6	1437	c.447delG	c.(445-447)gtfs	p.V149fs	CDH18_ENST00000511273.1_Frame_Shift_Del_p.V149fs|CDH18_ENST00000502796.1_Frame_Shift_Del_p.V149fs|CDH18_ENST00000382275.1_Frame_Shift_Del_p.V149fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.V149fs|CDH18_ENST00000506372.1_Frame_Shift_Del_p.V149fs			Q13634	CAD18_HUMAN	cadherin 18, type 2	149	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGATGTCTTGCACTTTGATGA	0.398													55	106	---	---	---	---					
HMGCS1	3157	broad.mit.edu	37	5	43297103	43297103	+	Splice_Site	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:43297103delC	ENST00000325110.6	-	5	946		c.e5+1		HMGCS1_ENST00000433297.2_Splice_Site	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)						cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GTAAAACTTACCTTTCTGCCA	0.418													20	185	---	---	---	---					
OR11A1	26531	broad.mit.edu	37	6	29394923	29394923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:29394923delG	ENST00000377149.1	-	5	968	c.496delC	c.(496-498)agfs	p.Q166fs	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Frame_Shift_Del_p.Q166fs|OR11A1_ENST00000377147.2_Frame_Shift_Del_p.Q166fs			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AACCTCAGCTGGGCCACCAGG	0.577													13	50	---	---	---	---					
MRAP2	112609	broad.mit.edu	37	6	84772665	84772665	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:84772665delT	ENST00000257776.4	+	3	316	c.181delT	c.(181-183)ttfs	p.F62fs		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	62				F -> I (in Ref. 1; BAC03517).	positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GATTTTTATGTTTTTTGTGCT	0.408													23	70	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													3	5	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													7	156	---	---	---	---					
DBH	1621	broad.mit.edu	37	9	136517382	136517384	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:136517382_136517384delGAA	ENST00000393056.2	+	8	1362_1364	c.1350_1352delGAA	c.(1348-1353)ttg>tt	p.LK450del		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	450					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)	TCCGCATGTTGAAGAAGGTCGTG	0.665													7	204	---	---	---	---					
SFMBT2	57713	broad.mit.edu	37	10	7212995	7212997	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:7212995_7212997delCTC	ENST00000361972.4	-	20	2527_2529	c.2437_2439delGAG	c.(2437-2439)del	p.E813del	SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	813					regulation of transcription, DNA-dependent	nucleus				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						GAACCAGTCTCTCCTCCTCCTCC	0.596													7	298	---	---	---	---					
UBASH3B	84959	broad.mit.edu	37	11	122647758	122647759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:122647758_122647759insC	ENST00000284273.5	+	3	617_618	c.242_243insC	c.(241-243)tctfs	p.S81fs		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	81						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)		GGTGACCCCTTCCTGGATGACC	0.535													8	111	---	---	---	---					
OVCH1	341350	broad.mit.edu	37	12	29617589	29617589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:29617589delA	ENST00000318184.5	-	18	1975	c.1976delT	c.(1975-1977)cafs	p.L659fs	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	659	Peptidase S1 2.				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)					GTCATAACTTAGTGTGTTAAA	0.453													21	107	---	---	---	---					
LOC101927058	101927058	broad.mit.edu	37	12	43030847	43030847	+	RNA	DEL	T	T	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:43030847delT	ENST00000550337.1	-	0	405																											ACATAAAATCTTTTGTAAGCT	0.443													9	51	---	---	---	---					
RP11-167N24.4	0	broad.mit.edu	37	12	95794463	95794464	+	RNA	DEL	CT	CT	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:95794463_95794464delCT	ENST00000548194.1	-	0	150																											CTCTCTCTTGCtctctctctct	0.485													2	4	---	---	---	---					
C14orf39	317761	broad.mit.edu	37	14	60933712	60933712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:60933712delC	ENST00000321731.3	-	10	977	c.818delG	c.(817-819)atfs	p.S273fs		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	273										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAATAATTGACTGCTTTGAGT	0.274													7	22	---	---	---	---					
VIPAS39	63894	broad.mit.edu	37	14	77919680	77919691	+	In_Frame_Del	DEL	TCATCATCGTCA	TCATCATCGTCA	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:77919680_77919691delTCATCATCGTCA	ENST00000553888.1	-	3	657_668	c.147_158delTGACGATGATGA	c.(145-159)gac>ga	p.DDDDD49del	VIPAS39_ENST00000448935.2_In_Frame_Del_p.DDDDD49del|VIPAS39_ENST00000343765.2_In_Frame_Del_p.DDDDD49del|VIPAS39_ENST00000327028.4_In_Frame_Del_p.DDDDD49del|VIPAS39_ENST00000557658.1_In_Frame_Del_p.DDDDD49del|VIPAS39_ENST00000556412.1_In_Frame_Del_p.DDDDD75del	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog									p.D52G(1)|p.D50D(1)									TCGCTCCAGGTCATCATCGTCATCATCATCCA	0.519													26	479	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	33988537	33988538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:33988537_33988538insG	ENST00000389232.4	+	39	6049_6050	c.5979_5980insG	c.(5977-5982)atgggafs	p.MG1993fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.MG1993fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1993	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)		ATGACAGCATTGGGGAGCTGCT	0.589													9	95	---	---	---	---					
SMG1	23049	broad.mit.edu	37	16	18847728	18847730	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:18847728_18847730delTGT	ENST00000446231.2	-	47	8141_8143	c.7729_7731delACA	c.(7729-7731)del	p.T2577del	SMG1_ENST00000389467.3_In_Frame_Del_p.T2577del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2577					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						TTGCAAGCTGTGTTGCTTCTAAA	0.379													9	46	---	---	---	---					
KRTAP1-4	728255	broad.mit.edu	37	17	39186006	39186006	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:39186006delG	ENST00000377747.4	-	1	350	c.325delC	c.(325-327)gcfs	p.R109fs		NM_001257305.1	NP_001244234.1			keratin associated protein 1-4											lung(1)	1						CAGGCTGGGCGGCAGCAGGAC	0.607													9	46	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TCCCTGGAAAACACACACACAC	0.411													7	122	---	---	---	---					
ZNF536	9745	broad.mit.edu	37	19	31025863	31025864	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:31025863_31025864delCC	ENST00000355537.3	+	3	2427_2428	c.2280_2281delCC	c.(2278-2283)ttggfs	p.FR760fs		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	760					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)					GGAAAACTTTCCGGACATCCCA	0.604													20	130	---	---	---	---					
PRODH2	58510	broad.mit.edu	37	19	36293929	36293929	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:36293929delG	ENST00000301175.3	-	9	1298	c.1281delC	c.(1279-1281)ccfs	p.P427fs		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	427					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGGCACATGGGGCCATGGC	0.602													5	10	---	---	---	---					
NINL	22981	broad.mit.edu	37	20	25456791	25456791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:25456791delC	ENST00000278886.6	-	17	3209	c.3136delG	c.(3136-3138)agfs	p.E1046fs	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1046					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ATTTTGGTCTCCCCCTCTTCT	0.567													22	98	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					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)			GGGAGGCTTTTGGGGGGGCTGG	0.545													7	606	---	---	---	---					
SPO11	23626	broad.mit.edu	37	20	55910890	55910890	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:55910890delA	ENST00000371263.3	+	8	780	c.671delA	c.(670-672)gafs	p.E224fs	SPO11_ENST00000345868.4_Frame_Shift_Del_p.E186fs|SPO11_ENST00000371260.4_Frame_Shift_Del_p.E182fs	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	224					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TTAATTGTAGAAAAAGATGCA	0.308								Editing and processing nucleases					12	48	---	---	---	---					
ADSL	158	broad.mit.edu	37	22	40745905	40745905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:40745905delA	ENST00000216194.7	+	2	279	c.223delA	c.(223-225)agfs	p.K75fs	ADSL_ENST00000342312.6_Frame_Shift_Del_p.K75fs|ADSL_ENST00000454266.2_Frame_Shift_Del_p.K75fs	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	75					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CATCGACTTCAAGATGGCAGC	0.428													15	53	---	---	---	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:152087570_152087572delGAG	ENST00000535861.1	+	7	523_525	c.475_477delGAG	c.(475-477)del	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													7	21	---	---	---	---