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
VN1R2	317701	broad.mit.edu	37	19	53762414	53762414	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:53762414T>A	uc002qbi.2	+	0	870	c.786T>A	c.(784-786)taT>taA	p.Y262*		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	262					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)		AGTCAGTATATGCAGCATTGA	0.448000													79	21					0	0	1	0	0
EXOSC3	51010	broad.mit.edu	37	9	37785000	37785000	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr9:37785000G>A	uc004aal.2	-	0	68	c.42C>T	c.(40-42)ggC>ggT	p.G14G	EXOSC3_uc010mly.1_Silent_p.G14G|EXOSC3_uc004aam.2_Silent_p.G14G	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.	14					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		GCGCCCTGCTGCCCGCGAGAG	0.682000													29	2					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721270	160721270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr5:160721270G>A	uc003lys.1	-	10	1575	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	GABRB2_uc011deh.1_Nonsense_Mutation_p.R254*|GABRB2_uc003lyr.1_Nonsense_Mutation_p.R415*|GABRB2_uc003lyt.1_Nonsense_Mutation_p.R415*	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGAGCATTTCGGCCAAAACTA	0.532000													47	48					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510259	169510259	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:169510259G>T	uc001ggg.1	-	12	4214	c.4069C>A	c.(4069-4071)Ctt>Att	p.L1357I		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1357	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.517000													6	438					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137808192	137808192	+	Splice_Site	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr9:137808192A>G	uc004cfi.3	-	2	306	c.217_splice	c.e2+1	p.G73_splice		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	73	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCCCGCACCTACCTCTCTCTC	0.657000													17	238					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51826976	51826976	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:51826976T>C	uc001csq.1	-	23	2503	c.2411A>G	c.(2410-2412)gAt>gGt	p.D804G	EPS15_uc009vyz.1_Missense_Mutation_p.D670G|EPS15_uc001csp.3_Missense_Mutation_p.D490G	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	804	15 X 3 AA repeats of D-P-F.|Pro-rich.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTGAAATGGATCATTCAGTTT	0.368000			T	MLL	ALL								10	83					0	0	1	0	0
HCCS	3052	broad.mit.edu	37	X	11139870	11139870	+	Silent	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:11139870A>G	uc004cul.2	+	6	927	c.747A>G	c.(745-747)ttA>ttG	p.L249L	HCCS_uc004cuk.3_Silent_p.L249L|HCCS_uc004cuj.3_Silent_p.L249L	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	249					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						GTCCTGCCTTAGATTCACTTT	0.433000													5	62					0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2522127	2522127	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:2522127G>A	uc002cqj.3	+	0	628	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	142	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GACCATGGCCGCAGCTGGGCC	0.677000													3	40					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	44					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70607293	70607293	+	Silent	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:70607293T>C	uc004dzu.4	+	14	2457	c.2406T>C	c.(2404-2406)caT>caC	p.H802H	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.H823H|TAF1_uc004dzv.4_5'Flank	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	802					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity	p.T801T(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCAATACGCATATTCGAGACT	0.488000													9	77					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	18					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:7577568C>T	uc002gim.2	-	6	907	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572000		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)			74	11					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000													4	4					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823664	70823664	+	Silent	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:70823664C>T	uc004eae.2	+	7	1038	c.537C>T	c.(535-537)ccC>ccT	p.P179P	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	179	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CGGAAGCTCCCGACGACAATA	0.502000													5	533					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91851246	91851246	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr7:91851246A>T	uc003ulr.1	-	13	2425	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E	KRIT1_uc010lev.1_Missense_Mutation_p.D268E|KRIT1_uc003ulq.1_Missense_Mutation_p.D511E|KRIT1_uc003uls.1_Missense_Mutation_p.D511E|KRIT1_uc003ult.1_Missense_Mutation_p.D463E|KRIT1_uc003ulu.1_Missense_Mutation_p.D511E|KRIT1_uc003ulv.1_Missense_Mutation_p.D511E	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	511	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGTCTCACATCTCTTCTTA	0.368000													3	21					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847369	47847369	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:47847369A>T	uc011dwm.2	-	2	1245	c.1211T>A	c.(1210-1212)aTc>aAc	p.I404N	PTCHD4_uc011dwn.2_Missense_Mutation_p.I151N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	404						integral to membrane	hedgehog receptor activity										ACAGCAAAAGATGCTGTGGTA	0.468000													6	45					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44953961	44953961	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:44953961G>A	uc002ikw.1	+	3	988	c.951G>A	c.(949-951)ggG>ggA	p.G317G	WNT9B_uc002ikx.1_Intron	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	317					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGTGCTGCGGGCGGGGCTATG	0.662000													81	11					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48317963	48317963	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:48317963G>T	uc010nid.3	-	15	1454	c.1276C>A	c.(1276-1278)Ccc>Acc	p.P426T	SLC38A5_uc004djk.4_Missense_Mutation_p.P375T	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	426					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACCTCAGAGGGTACAATGCGG	0.567000													6	16					0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10417566	10417566	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:10417566C>T	uc004cte.4	-	9	2036	c.1846G>A	c.(1846-1848)Gcc>Acc	p.A616T	MID1_uc004ctd.4_Missense_Mutation_p.A327T|MID1_uc004ctg.4_Missense_Mutation_p.A616T|MID1_uc004cth.4_Missense_Mutation_p.A578T|MID1_uc004ctk.4_Missense_Mutation_p.A616T|MID1_uc004ctj.4_Missense_Mutation_p.A616T|MID1_uc004cti.4_Missense_Mutation_p.A616T|MID1_uc004csz.4_Missense_Mutation_p.A288T|MID1_uc004cta.4_Missense_Mutation_p.A372T|MID1_uc004ctb.4_Missense_Mutation_p.A276T|MID1_uc004ctc.4_Missense_Mutation_p.A383T	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	616	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCATAAAAGGCGATAGAGCCG	0.547000													94	88					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160977179	160977179	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:160977179G>A	uc003qtl.3	-	30	4971	c.4851C>T	c.(4849-4851)taC>taT	p.Y1617Y		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4125	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CATTACCATGGTAGCACTGCC	0.468000													36	77					0	0	1	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819380	89819380	+	Missense_Mutation	SNP	A	A	G	rs75726606		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr11:89819380A>G	uc010rub.2	+	0	263	c.263A>G	c.(262-264)aAc>aGc	p.N88S		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	88					multicellular organismal development	cytoplasm|nucleus	DNA binding										AAAAAGATGAACAAAAGCCAA	0.413000													3	22					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752234	76752234	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr18:76752234C>G	uc002lmt.3	+	1	243	c.243C>G	c.(241-243)atC>atG	p.I81M	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGTGCTGATCGTGCACGAGG	0.711000													5	25					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637452	248637452	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:248637452G>A	uc001iel.1	+	0	801	c.801G>A	c.(799-801)ccG>ccA	p.P267P		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ACATGCTCCCGAGTTCCTACC	0.547000													50	318					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563665	22563665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr20:22563665G>T	uc002wsm.3	-	1	400	c.215C>A	c.(214-216)tCg>tAg	p.S72*	FOXA2_uc002wsn.3_Nonsense_Mutation_p.S66*	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	66	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CACGTACGACGACATGTTCAT	0.731000													62	41					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7689631	7689631	+	Missense_Mutation	SNP	G	G	A	rs139080127		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:7689631G>A	uc002giu.1	+	38	6333	c.6319G>A	c.(6319-6321)Gcc>Acc	p.A2107T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2107	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTGTGCCGCGCCGGAGACCC	0.597000													15	48					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48018140	48018140	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:48018140A>G	uc002rwd.4	+	1	487	c.335A>G	c.(334-336)aAc>aGc	p.N112S	MSH6_uc002rwc.2_Missense_Mutation_p.N112S|MSH6_uc010fbj.3_5'UTR|MSH6_uc010yoj.2_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	112	PWWP.				DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGTTTACAACCACCCCTTT	0.473000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				60	90					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247303	153247303	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:153247303T>C	uc003ims.3	-	9	1661	c.1499A>G	c.(1498-1500)cAt>cGt	p.H500R	FBXW7_uc011cii.2_Missense_Mutation_p.H500R|FBXW7_uc003imt.3_Missense_Mutation_p.H500R|FBXW7_uc011cih.2_Missense_Mutation_p.H324R|FBXW7_uc003imq.3_Missense_Mutation_p.H420R|FBXW7_uc003imr.3_Missense_Mutation_p.H382R	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	500					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.H500N(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCTGCAACATGACCCATCAA	0.463000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								68	65					0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719785	145719785	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr5:145719785G>A	uc003loa.2	+	1	884	c.795G>A	c.(793-795)aaG>aaA	p.K265K		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	265					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACAGCAAGCCAGAGCTCT	0.607000													4	92					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136555620	136555620	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:136555620G>T	uc002tuu.1	-	12	4966	c.4955C>A	c.(4954-4956)gCt>gAt	p.A1652D		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1652	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCCTGCAGCCAAGCTCCT	0.567000											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	113					0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63410192	63410192	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:63410192G>A	uc022byb.1	-	0	2975	c.2975C>T	c.(2974-2976)gCa>gTa	p.A992V	FAM123B_uc004dvo.3_Missense_Mutation_p.A992V	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	992	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GCAACAGGTTGCCTGCCTATA	0.572000													10	38					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56847395	56847395	+	Silent	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:56847395T>C	uc003hbi.3	+	12	1863	c.1629T>C	c.(1627-1629)gcT>gcC	p.A543A	CEP135_uc003hbj.3_Silent_p.A249A	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	543					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCTTTAAGGCTCAGGAAGAAT	0.318000													23	30					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585589	7585589	+	Silent	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:7585589C>T	uc003mxp.1	+	23	8373	c.8094C>T	c.(8092-8094)ttC>ttT	p.F2698F	DSP_uc003mxq.1_Silent_p.F2099F|DSP_uc021yle.1_Silent_p.F2255F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2698	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCATAGGCTTCGAGGGTGTGA	0.557000													65	243					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111490764	111490764	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:111490764A>T	uc001eaa.3	-	3	2383	c.2127T>A	c.(2125-2127)aaT>aaA	p.N709K	LRIF1_uc001dzz.3_Missense_Mutation_p.N173K|LRIF1_uc001eab.3_Missense_Mutation_p.N173K	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTGCATTTGAATTCAAAGTGC	0.378000													35	103					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166217	151166217	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr3:151166217T>C	uc011bod.2	-	3	1552	c.1552A>G	c.(1552-1554)Aga>Gga	p.R518G		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	518	Ig-like C2-type 1.				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)			TAAGGGGCTCTCACTTTACTT	0.498000													52	247					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74334628	74334628	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:74334628C>A	uc004ebz.3	-	1	235	c.210G>T	c.(208-210)ttG>ttT	p.L70F	ABCB7_uc010nlt.3_Missense_Mutation_p.L69F|ABCB7_uc004eca.3_Missense_Mutation_p.L69F|ABCB7_uc011mqn.2_Intron|ABCB7_uc010nls.3_Missense_Mutation_p.L70F	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	69					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGCCTTTTCCCAATCTCTGCC	0.378000													5	21					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45623210	45623210	+	Silent	SNP	A	A	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr14:45623210A>C	uc001wwd.4	+	5	1237	c.1138A>C	c.(1138-1140)Aga>Cga	p.R380R	FANCM_uc001wwc.2_Silent_p.R380R|FANCM_uc010anf.3_Silent_p.R354R|FANCM_uc001wwe.4_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	380					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATGGGAATGAGATCATTATA	0.294000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				49	11					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362678	55362678	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:55362678A>G	uc002ehy.3	+	4	1321	c.788A>G	c.(787-789)gAg>gGg	p.E263G	IRX6_uc002ehx.3_Missense_Mutation_p.E263G	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						gaggaagaggaggaggaggag	0.627000													29	35					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977316	30977316	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:30977316G>A	uc002ead.1	+	7	2800	c.2114G>A	c.(2113-2115)gGc>gAc	p.G705D		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGT	0.642000													40	134					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72030371	72030371	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:72030371T>A	uc001swo.2	-	8	2358	c.1999A>T	c.(1999-2001)Aga>Tga	p.R667*		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	667					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGATTGCTTCTTGGCACAGGA	0.418000													16	82					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47652148	47652148	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr11:47652148T>C	uc010rho.2	-	7	687	c.498A>G	c.(496-498)atA>atG	p.I166M	MTCH2_uc010rhp.2_Missense_Mutation_p.I18M	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	166					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AGATGGTTATTATGGAATCAC	0.328000													3	61					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236906280	236906280	+	Missense_Mutation	SNP	C	C	T	rs148189507		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:236906280C>T	uc001hyf.2	+	10	1396	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	ACTN2_uc001hyg.2_Missense_Mutation_p.R190C|ACTN2_uc009xgi.1_Missense_Mutation_p.R398C|ACTN2_uc010pxu.1_Missense_Mutation_p.R87C	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	398					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGACTGGAGCGCTTGGAACA	0.522000													31	57					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648105	41648105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr21:41648105C>A	uc002yyq.1	-	10	2727	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	759	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCACTGTCTTCCTCCACGACA	0.517000													23	23					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956577	42956577	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr3:42956577G>A	uc003cmk.2	+	3	1276	c.1090G>A	c.(1090-1092)Ggg>Agg	p.G364R	ZNF662_uc003cmi.2_Missense_Mutation_p.G338R|ZNF662_uc003cmj.2_Missense_Mutation_p.G230R	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TAAGGACTGTGGGAAGGGCTT	0.488000													37	11					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416095	82416095	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:82416095C>G	uc001dit.4	+	6	1602	c.1421C>G	c.(1420-1422)tCc>tGc	p.S474C	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.S474C|LPHN2_uc001div.3_Missense_Mutation_p.S474C|LPHN2_uc009wcd.3_Missense_Mutation_p.S474C|LPHN2_uc001diw.3_Missense_Mutation_p.S45C	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	474					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCATTAGACTCCAAGGGGATA	0.428000													35	26					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563467	56563467	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:56563467T>C	uc001skb.3	-	23	2574	c.2468A>G	c.(2467-2469)aAg>aGg	p.K823R	SMARCC2_uc001skd.3_Missense_Mutation_p.K854R|SMARCC2_uc001ska.3_Missense_Mutation_p.K854R|SMARCC2_uc001skc.3_Missense_Mutation_p.K853R|SMARCC2_uc010sqf.2_Missense_Mutation_p.K743R	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	823	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ctccttctccttctcAGGATC	0.592000													22	42					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156213861	156213861	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:156213861C>T	uc001fnz.1	-	6	1463	c.847G>A	c.(847-849)Gag>Aag	p.E283K	PAQR6_uc001fnv.1_3'UTR|PAQR6_uc010phg.1_3'UTR|PAQR6_uc001fnx.1_3'UTR|PAQR6_uc001fnu.1_3'UTR|PAQR6_uc010phf.1_Missense_Mutation_p.E215K|PAQR6_uc001fny.1_Missense_Mutation_p.E143K|PAQR6_uc010phh.1_3'UTR|PAQR6_uc001foa.1_3'UTR|PAQR6_uc001fob.1_Non-coding_Transcript	NM_024897	NP_079173	Q6TCH4	PAQR6_HUMAN	Homo sapiens progestin and adipoQ receptor family member VI (PAQR6), transcript variant 1, mRNA.	290						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					AATCTGGGCTCCTCGTCAGCA	0.652000													88	130					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47699375	47699375	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:47699375G>A	uc002ipg.3	-	2	430	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	SPOP_uc010dbk.3_Missense_Mutation_p.R45W|SPOP_uc002ipb.3_Missense_Mutation_p.R45W|SPOP_uc002ipc.3_Missense_Mutation_p.R45W|SPOP_uc002ipd.3_Missense_Mutation_p.R45W|SPOP_uc002ipe.3_Missense_Mutation_p.R45W|SPOP_uc002ipf.3_Missense_Mutation_p.R45W	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	45	MATH.				mRNA processing	nucleus	protein binding	p.R45W(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						ATTTCCTCCCGGCAAAAGCTA	0.358000										Prostate(2;0.17)			30	5					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11327692	11327692	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:11327692G>A	uc002mqs.4	-	29	3833	c.3792C>T	c.(3790-3792)acC>acT	p.T1264T	DOCK6_uc010xlq.2_Silent_p.T603T	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1264					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCCGGCTCGGTGTTTTTCA	0.612000													22	60					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184765126	184765126	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:184765126C>G	uc001gra.3	-	13	1966	c.1772G>C	c.(1771-1773)gGg>gCg	p.G591A	FAM129A_uc001grb.1_Missense_Mutation_p.G354A	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	591					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.G591W(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTGGTTTGACCCTGTGGGGGG	0.498000													72	78					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50988123	50988123	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr22:50988123C>T	uc003bmi.3	+	0	1662	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	510										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCCGTGATGCGCTACAACAC	0.692000													10	67					0	0	1	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	A	G	rs115341812	by1000genomes	TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000													3	43					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29917116	29917116	+	Silent	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:29917116C>T	uc002dut.3	+	2	1217	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	357					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TAGGCTCCCCCGAAGATGGGC	0.572000													19	54					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66002813	66002813	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr11:66002813G>A	uc001oha.2	+	17	2280	c.2146G>A	c.(2146-2148)Ggg>Agg	p.G716R	PACS1_uc010rou.2_Missense_Mutation_p.G252R	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	716					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.N715N(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTACGTCAACGGGGCAGCCAC	0.532000													38	6					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696408	47696408	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:47696408T>C	uc002ipg.3	-	4	712	c.415A>G	c.(415-417)Aga>Gga	p.R139G	SPOP_uc010dbk.3_Missense_Mutation_p.R139G|SPOP_uc002ipb.3_Missense_Mutation_p.R139G|SPOP_uc002ipc.3_Missense_Mutation_p.R139G|SPOP_uc002ipd.3_Missense_Mutation_p.R139G|SPOP_uc002ipe.3_Missense_Mutation_p.R139G|SPOP_uc002ipf.3_Missense_Mutation_p.R139G	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	139	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGAAAATCTCTACGGATGAAT	0.463000										Prostate(2;0.17)			132	25					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115663478	115663478	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr10:115663478A>G	uc001lax.2	+	8	1928	c.1687A>G	c.(1687-1689)Act>Gct	p.T563A	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	563					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GGATTTAGAAACTAAAATGGT	0.308000													82	74					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028481	37028481	+	Silent	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:37028481C>A	uc004ddl.2	+	0	2050	c.1998C>A	c.(1996-1998)ctC>ctA	p.L666L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	666										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						TGTCCAGTCTCCCCCCGGAGC	0.637000													12	104					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510220	169510220	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:169510220G>A	uc001ggg.1	-	12	4253	c.4108C>T	c.(4108-4110)Ctc>Ttc	p.L1370F		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1370	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.L1370F(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCTGGCTGAGGTCTAGAGAA	0.517000													7	378					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75149480	75149480	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:75149480G>C	uc002fdm.3	-	1	203	c.151C>G	c.(151-153)Cga>Gga	p.R51G	LDHD_uc002fdn.3_Missense_Mutation_p.R51G	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	51							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TGCTGCTCTCGGACCACCGCG	0.652000													7	34					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	984	984	+	RNA	SNP	G	G	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrGL000237.1:984G>C	uc011mgu.1	-	1		c.234C>G								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		gagcagctgggcagacaatgc	0.557000													3	42					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676068	11676068	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr7:11676068C>G	uc021zzo.1	-	1	963	c.711G>C	c.(709-711)gaG>gaC	p.E237D	THSD7A_uc021zzn.1_Missense_Mutation_p.E237D	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	237	TSP type-1 2.					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)		ACACCTGGAACTCCGTCAGGT	0.657000										HNSCC(18;0.044)			13	16					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15882884	15882884	+	Silent	SNP	C	C	T	rs3752144	by1000genomes	TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:15882884C>T	uc010xor.1	-	2	293	c.273G>A	c.(271-273)ctG>ctA	p.L91L	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		TGCATTTCTGCAGACTGTCCA	0.537000													4	119					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89279373	89279373	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:89279373A>G	uc001dmn.3	+	15	2578	c.2236A>G	c.(2236-2238)Atg>Gtg	p.M746V	PKN2_uc010osp.2_Missense_Mutation_p.M730V|PKN2_uc010osq.2_Missense_Mutation_p.M589V|PKN2_uc009wcv.3_Missense_Mutation_p.M698V|PKN2_uc010osr.2_Missense_Mutation_p.M411V	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	746	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGGGGACCTAATGATGCACAT	0.403000													39	103					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032378	21032378	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:21032378A>C	uc010sil.2	+	8	1209	c.1144A>C	c.(1144-1146)Acc>Ccc	p.T382P	SLCO1B3_uc001rek.3_Missense_Mutation_p.T382P|SLCO1B3_uc001rel.3_Missense_Mutation_p.T382P|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	382					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGGAATCATAACCATTCCTAC	0.269000													6	46					0	0	1	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31526160	31526160	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:31526160G>A	uc003nub.3	+	3	1037	c.918G>A	c.(916-918)ggG>ggA	p.G306G	NFKBIL1_uc011dnr.2_Silent_p.G268G|NFKBIL1_uc011dns.2_Silent_p.G283G|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Silent_p.G291G	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	306					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCTGCCCTGGGGGAGGGGACC	0.697000													4	6					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43157250	43157250	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr8:43157250G>A	uc003xpz.1	+	4	873	c.830G>A	c.(829-831)aGt>aAt	p.S277N	POTEA_uc003xqa.1_Intron	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	277										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTCATCATAGTATGTAAGTG	0.289000													3	31					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:4228226G>A	uc003ghp.1	-	0	396	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(4)		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)		TGTCCTTGAGGCGGAAGAGGC	0.716000													3	18					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr13:41705440G>T	uc001uxu.1	-	0	1497	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	403							protein binding	p.T403K(14)|p.T403T(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507000													4	165					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86888868	86888868	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:86888868T>G	uc004efa.2	+	7	1851	c.1669T>G	c.(1669-1671)Tca>Gca	p.S557A	KLHL4_uc004efb.2_Missense_Mutation_p.S557A	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	557						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.S557L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCCAGTATGTCAACTCCTAG	0.423000													4	54					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135439077	135439077	+	Silent	SNP	T	T	C	rs149978897	by1000genomes	TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr10:135439077T>C	uc010qvg.2	-	3	416	c.363A>G	c.(361-363)tcA>tcG	p.S121S		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	121						nucleus		p.S122S(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTTTATTCAATGACAAGCTGC	0.517000													4	82					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449409	179449409	+	Silent	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:179449409C>A	uc021vsy.1	-	258	57480	c.57255G>T	c.(57253-57255)gcG>gcT	p.A19085A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A12780A|TTN_uc021vta.1_Silent_p.A12713A|TTN_uc021vtb.1_Silent_p.A12588A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20012	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A19083A(1)|p.A12588A(1)|p.A19085A(1)|p.A12780A(1)|p.A12713A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGAACTGCGCAACCATCT	0.433000													67	230					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510577	169510577	+	Silent	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:169510577A>G	uc001ggg.1	-	12	3896	c.3751T>C	c.(3751-3753)Tta>Cta	p.L1251L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1251	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGAGGTCTAAAGAAAGGGTT	0.522000													5	444					0	0	1	0	0
ZAR1	326340	broad.mit.edu	37	4	48492843	48492843	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:48492843G>A	uc003gyd.3	+	0	535	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN	Homo sapiens zygote arrest 1 (ZAR1), mRNA.	179					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						CCCGCGCACCGTCGCCGTGTA	0.761000													9	1					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65299631	65299631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:65299631delG	uc002sdl.4	+	2	1615	c.1401delG	c.(1399-1401)gagfs	p.E467fs	CEP68_uc002sdj.2_Frame_Shift_Del_p.E467fs|CEP68_uc010yqb.1_Frame_Shift_Del_p.E467fs|CEP68_uc002sdk.4_Frame_Shift_Del_p.E467fs|CEP68_uc010yqc.2_Frame_Shift_Del_p.E467fs|CEP68_uc010yqd.1_Frame_Shift_Del_p.E467fs	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	467					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTGCACAGAGTCTAGGTGGA	0.592													26	108	---	---	---	---					
ZNF732	654254	broad.mit.edu	37	4	264932	264932	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:264932delA	uc021xka.1	-	3	1714	c.1714delT	c.(1714-1716)tacfs	p.Y572fs	ZNF732_uc011buu.1_Frame_Shift_Del_p.Y540fs	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TGATTAAGGTATGAGGACCAC	0.348													2	4	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:71508370delA	uc003pfr.3	+	5	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_uc011dxy.1_Non-coding_Transcript|SMAP1_uc003pfs.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kao.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kap.3_Frame_Shift_Del_p.E159fs	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													2	4	---	---	---	---					
THOC1	9984	broad.mit.edu	37	18	214519	214520	+	Splice_Site	INS	-	-	TTG	rs142588910		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr18:214519_214520insTTG	uc002kkj.4	-	21	2120	c.2080_splice	c.e21+1		THOC1_uc002kkh.4_Splice_Site	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.						RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTGTACAACAATTGTTATAAAA	0.351													4	7	---	---	---	---					
