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
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	ENST00000327304.5	-	1	54	c.42C>T	c.(40-42)ggC>ggT	p.G14G	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Silent_p.G14G	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	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|protein binding|RNA 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	0	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	ENST00000274547.2	-	11	1574	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	GABRB2_ENST00000517901.1_Nonsense_Mutation_p.R352*|GABRB2_ENST00000393959.1_Nonsense_Mutation_p.R453*|GABRB2_ENST00000517547.1_Nonsense_Mutation_p.R255*|GABRB2_ENST00000520240.1_Nonsense_Mutation_p.R415*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.R415*	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGAGCATTTCGGCCAAAACTA	0.532000													47	48					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	ENST00000393331.3	-	5	603	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	SPOP_ENST00000503676.1_Missense_Mutation_p.R45W|SPOP_ENST00000504102.1_Missense_Mutation_p.R45W|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.R45W|SPOP_ENST00000347630.2_Missense_Mutation_p.R45W	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	45	MATH.				mRNA processing	nucleus	protein binding	p.R45W(1)		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
ZNF99	7652	broad.mit.edu	37	19	22939890	22939890	+	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.chr19:22939890G>A	ENST00000397104.3	-	6	2440	c.2441C>T	c.(2440-2442)tCc>tTc	p.S814F						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)				AAGGGTTGAGGAATTGTTAAA	0.383000													35	37					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	ENST00000371733.3	-	24	2507	c.2411A>G	c.(2410-2412)gAt>gGt	p.D804G	EPS15_ENST00000396122.4_Missense_Mutation_p.D481G|EPS15_ENST00000371730.2_Missense_Mutation_p.D670G	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	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	calcium ion binding|SH3 domain 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	ENST00000321143.4	+	7	949	c.747A>G	c.(745-747)ttA>ttG	p.L249L	ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Silent_p.L249L|HCCS_ENST00000380762.4_Silent_p.L249L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	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
KLHL4	0	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	ENST00000373119.4	+	8	1814	c.1669T>G	c.(1669-1671)Tca>Gca	p.S557A	KLHL4_ENST00000373114.4_Missense_Mutation_p.S557A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	557						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCCAGTATGTCAACTCCTAG	0.423000													4	54					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	ENST00000293973.1	+	1	628	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	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	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		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
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	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	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).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(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
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	ENST00000394507.1	-	15	2316	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E	KRIT1_ENST00000394503.2_Missense_Mutation_p.D463E|KRIT1_ENST00000394505.2_Missense_Mutation_p.D511E|KRIT1_ENST00000412043.2_Missense_Mutation_p.D511E|KRIT1_ENST00000340022.2_Missense_Mutation_p.D511E	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	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	ENST00000339488.4	-	3	1244	c.1211T>A	c.(1210-1212)aTc>aAc	p.I404N		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	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	ENST00000290015.2	+	4	1004	c.951G>A	c.(949-951)ggG>ggA	p.G317G	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	317					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|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			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	ENST00000376876.3	-	15	2119	c.1276C>A	c.(1276-1278)Ccc>Acc	p.P426T	SLC38A5_ENST00000317669.5_Missense_Mutation_p.P426T|SLC38A5_ENST00000376875.1_Missense_Mutation_p.P375T|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	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					0.00307968	0.00312187	1	1	0
MT-RNR2	0	broad.mit.edu	37	MT	2300	2300	+	RNA	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.chrM:2300G>A	ENST00000387347.2	+	0	630					NR_039705.1																						AGAAGAACTAATGTTAGTATA	0.388000													2	0					0	0	1	0	0
MID1	0	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	ENST00000317552.4	-	10	2246	c.1846G>A	c.(1846-1848)Gcc>Acc	p.A616T	MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.A616T|MID1_ENST00000453318.2_Missense_Mutation_p.A616T|MID1_ENST00000380779.1_Missense_Mutation_p.A616T|MID1_ENST00000380780.1_Missense_Mutation_p.A616T|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.A616T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	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
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	ENST00000376148.4	+	4	1032	c.918G>A	c.(916-918)ggG>ggA	p.G306G	NFKBIL1_ENST00000376145.4_Silent_p.G291G	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	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
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	ENST00000447678.1	-	31	4971	c.4851C>T	c.(4849-4851)taC>taT	p.Y1617Y	LPA_ENST00000316300.5_Silent_p.Y1617Y	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	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
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	ENST00000575389.2	+	2	243	c.243C>G	c.(241-243)atC>atG	p.I81M	SALL3_ENST00000537592.2_Missense_Mutation_p.I81M|SALL3_ENST00000536229.3_5'UTR			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	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	ENST00000359594.2	+	1	826	c.801G>A	c.(799-801)ccG>ccA	p.P267P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	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	ENST00000419308.2	-	2	399	c.197C>A	c.(196-198)tCg>tAg	p.S66*	FOXA2_ENST00000319993.4_Nonsense_Mutation_p.S72*|FOXA2_ENST00000377115.4_Nonsense_Mutation_p.S66*	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	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|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			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					1.1362e-29	1.27392e-29	1	1	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	ENST00000572933.1	+	40	7779	c.6319G>A	c.(6319-6321)Gcc>Acc	p.A2107T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2107T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	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	ENST00000234420.4	+	2	487	c.335A>G	c.(334-336)aAc>aGc	p.N112S	MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	112	PWWP.				determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			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
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	ENST00000371806.3	-	2	309		c.e2+1			NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1						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
AMER1	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	ENST00000330258.3	-	2	3247	c.2975C>T	c.(2974-2976)gCa>gTa	p.A992V	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									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	ENST00000257287.4	+	13	1753	c.1629T>C	c.(1627-1629)gcT>gcC	p.A543A		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	543					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					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	ENST00000379802.3	+	24	8435	c.8094C>T	c.(8092-8094)ttC>ttT	p.F2698F	DSP_ENST00000418664.2_Silent_p.F2099F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	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	ENST00000369763.4	-	4	2517	c.2127T>A	c.(2125-2127)aaT>aaA	p.N709K	LRIF1_ENST00000494675.1_Missense_Mutation_p.N173K|LRIF1_ENST00000485275.2_Missense_Mutation_p.N173K|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	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	ENST00000282466.3	-	4	1551	c.1552A>G	c.(1552-1554)Aga>Gga	p.R518G		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	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	ENST00000253577.3	-	2	234	c.210G>T	c.(208-210)ttG>ttT	p.L70F	ABCB7_ENST00000373394.3_Missense_Mutation_p.L69F|ABCB7_ENST00000339447.4_Missense_Mutation_p.L69F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	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					1.23904e-05	1.29139e-05	1	1	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	ENST00000267430.5	+	6	1223	c.1138A>C	c.(1138-1140)Aga>Cga	p.R380R	FANCM_ENST00000542564.2_Silent_p.R354R|FANCM_ENST00000556036.1_Silent_p.R380R	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	380					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						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	ENST00000290552.7	+	5	2120	c.788A>G	c.(787-789)gAg>gGg	p.E263G	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	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	ENST00000262519.8	+	8	2800	c.2114G>A	c.(2113-2115)gGc>gAc	p.G705D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						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	ENST00000378743.3	-	9	2357	c.1999A>T	c.(1999-2001)Aga>Tga	p.R667*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	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	ENST00000302503.3	-	8	655	c.498A>G	c.(496-498)atA>atG	p.I166M	MTCH2_ENST00000542981.1_Missense_Mutation_p.I18M	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	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	ENST00000366578.4	+	11	1358	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R398C	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	398					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP 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	ENST00000400454.1	-	11	2752	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	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					6.44725e-10	6.81567e-10	1	1	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	ENST00000541208.1	+	5	1381	c.1012G>A	c.(1012-1014)Ggg>Agg	p.G338R	ZNF662_ENST00000328199.6_Missense_Mutation_p.G364R|ZNF662_ENST00000440367.2_Missense_Mutation_p.G338R|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	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	ENST00000370728.1	+	9	2066	c.1421C>G	c.(1420-1422)tCc>tGc	p.S474C	LPHN2_ENST00000370723.1_Missense_Mutation_p.S474C|LPHN2_ENST00000394879.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370725.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370717.2_Missense_Mutation_p.S474C|LPHN2_ENST00000370727.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370730.1_Missense_Mutation_p.S474C|LPHN2_ENST00000335786.5_Missense_Mutation_p.S474C|LPHN2_ENST00000271029.4_Missense_Mutation_p.S474C|LPHN2_ENST00000359929.3_Missense_Mutation_p.S474C|LPHN2_ENST00000370715.1_Missense_Mutation_p.S474C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.S474C|LPHN2_ENST00000370721.1_Missense_Mutation_p.S412C|LPHN2_ENST00000370713.1_Missense_Mutation_p.S474C			O95490	LPHN2_HUMAN	latrophilin 2	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	ENST00000394023.3	-	25	2666	c.2561A>G	c.(2560-2562)aAg>aGg	p.K854R	SMARCC2_ENST00000347471.4_Missense_Mutation_p.K854R|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K854R|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K823R|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	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	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	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	ENST00000335852.1	-	7	1462	c.847G>A	c.(847-849)Gag>Aag	p.E283K	PAQR6_ENST00000540423.1_3'UTR|PAQR6_ENST00000360733.2_Missense_Mutation_p.E283K|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.E283K|PAQR6_ENST00000292291.5_3'UTR	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	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
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	ENST00000294618.7	-	30	3803	c.3792C>T	c.(3790-3792)acC>acT	p.T1264T	DOCK6_ENST00000319867.7_Silent_p.T603T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	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	ENST00000367511.3	-	14	1965	c.1772G>C	c.(1771-1773)gGg>gCg	p.G591A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	591					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						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	ENST00000395676.2	+	1	1662	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	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
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	ENST00000308748.5	+	3	1323	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	ASPHD1_ENST00000483405.1_Silent_p.P76P	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	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	ENST00000320580.4	+	18	2179	c.2146G>A	c.(2146-2148)Ggg>Agg	p.G716R	PACS1_ENST00000529757.1_Missense_Mutation_p.G252R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	716					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		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	ENST00000393331.3	-	7	885	c.415A>G	c.(415-417)Aga>Gga	p.R139G	SPOP_ENST00000503676.1_Missense_Mutation_p.R139G|SPOP_ENST00000504102.1_Missense_Mutation_p.R139G|SPOP_ENST00000393328.2_Missense_Mutation_p.R139G|SPOP_ENST00000347630.2_Missense_Mutation_p.R139G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	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	ENST00000369301.3	+	9	1899	c.1687A>G	c.(1687-1689)Act>Gct	p.T563A		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	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	ENST00000358047.3	+	1	2050	c.1998C>A	c.(1996-1998)ctC>ctA	p.L666L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	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					8.60227e-14	9.3613e-14	1	1	0
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	ENST00000341702.3	+	1	870	c.786T>A	c.(784-786)taT>taA	p.Y262*		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	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
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	ENST00000300051.4	-	2	197	c.151C>G	c.(151-153)Cga>Gga	p.R51G	LDHD_ENST00000450168.2_Missense_Mutation_p.R51G	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	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
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	ENST00000423059.3	-	2	962	c.711G>C	c.(709-711)gaG>gaC	p.E237D		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	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
AC008103.5	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	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													4	4					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	ENST00000370521.3	+	16	2595	c.2236A>G	c.(2236-2238)Atg>Gtg	p.M746V	PKN2_ENST00000544045.1_Missense_Mutation_p.M420V|PKN2_ENST00000370505.3_Missense_Mutation_p.M589V|PKN2_ENST00000370513.5_Missense_Mutation_p.M698V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	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	ENST00000381545.3	+	11	1363	c.1144A>C	c.(1144-1146)Acc>Ccc	p.T382P	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T382P|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T382P|LST3_ENST00000540229.1_Missense_Mutation_p.T382P|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	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
POTEA	340441	broad.mit.edu	37	8	43157250	43157250	+	RNA	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	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											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	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(2)		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
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	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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
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	ENST00000589042.1	-	310	65183	c.64959G>T	c.(64957-64959)gcG>gcT	p.A21653A	TTN_ENST00000460472.2_Silent_p.A12588A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.A19085A|TTN_ENST00000342175.6_Silent_p.A12780A|TTN_ENST00000359218.5_Silent_p.A12713A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A20012A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20012	Fibronectin type-III 57.						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					1.85257e-25	2.04613e-25	1	1	0
FBXW7	0	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	ENST00000281708.4	-	10	2728	c.1499A>G	c.(1498-1500)cAt>cGt	p.H500R	FBXW7_ENST00000393956.3_Missense_Mutation_p.H324R|FBXW7_ENST00000263981.5_Missense_Mutation_p.H420R|FBXW7_ENST00000296555.5_Missense_Mutation_p.H382R|FBXW7_ENST00000603548.1_Missense_Mutation_p.H500R|FBXW7_ENST00000603841.1_Missense_Mutation_p.H500R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	500					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCTGCAACATGACCCATCAA	0.463000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								68	65					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	ENST00000449580.1	+	15	2457	c.2406T>C	c.(2404-2406)caT>caC	p.H802H	TAF1_ENST00000276072.3_Silent_p.H823H|TAF1_ENST00000373790.4_Silent_p.H802H|TAF1_ENST00000423759.1_Silent_p.H823H			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	802					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCAATACGCATATTCGAGACT	0.488000													9	77					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	ENST00000327939.4	+	1	575	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	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	ENST00000377990.2	+	3	1604	c.1401delG	c.(1399-1401)gafs	p.E467fs	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Frame_Shift_Del_p.E467fs|CEP68_ENST00000546106.1_Frame_Shift_Del_p.E467fs|CEP68_ENST00000537589.1_Frame_Shift_Del_p.E79fs|CEP68_ENST00000497039.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	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	---	---	---	---					
CH17-132F21.1	0	broad.mit.edu	37	2	90458503	90458504	+	Frame_Shift_Ins	INS	-	-	TT			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.chr2:90458503_90458504insTT	ENST00000603238.1	+	2	179_180	c.179_180insTT	c.(178-180)cggfs	p.R60fs																								CAGCAGAAACCAGGGAAAACTC	0.495													7	254	---	---	---	---					
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	ENST00000419098.1	-	4	1724	c.1714delT	c.(1714-1716)acfs	p.Y572fs		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	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	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	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	---	---	---	---					
RP11-798G7.5	0	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	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.chr17:43591984_43591985insG	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTGGGTCATGCGGAGCGAGTTT	0.411													9	47	---	---	---	---					
FTX	0	broad.mit.edu	37	X	73507433	73507434	+	RNA	INS	-	-	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:73507433_73507434insT	ENST00000429124.1	-	0	174																											AAAATATGAGCTTTTTTTTTTC	0.411													3	4	---	---	---	---