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
OR7D2	162998	broad.mit.edu	37	19	9296521	9296521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:9296521G>T	ENST00000344248.2	+	1	243	c.64G>T	c.(64-66)Gaa>Taa	p.E22*		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	22					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TGAGGATCCAGAACTACAGCC	0.483000													7	50					0.0293803	0.0312359	0.248553	1	0
OR2W3	343171	broad.mit.edu	37	1	248059519	248059519	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:248059519T>A	ENST00000537741.1	+	3	888	c.631T>A	c.(631-633)Ttg>Atg	p.L211M	OR2W3_ENST00000360358.3_Missense_Mutation_p.L211M			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTGTCCCCCTTGGTGTTTAT	0.592000													27	216					0	0	0.750413	0	0
USP29	57663	broad.mit.edu	37	19	57642250	57642250	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:57642250A>T	ENST00000254181.4	+	4	2661	c.2207A>T	c.(2206-2208)cAg>cTg	p.Q736L	USP29_ENST00000598197.1_Missense_Mutation_p.Q736L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	736					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGCTCCAGCAGTGTATTGAG	0.453000													7	74					0	0	0.307466	0	0
EP400	57634	broad.mit.edu	37	12	132546831	132546831	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:132546831G>T	ENST00000333577.4	+	47	8278	c.8169G>T	c.(8167-8169)caG>caT	p.Q2723H	EP400_ENST00000389561.2_Missense_Mutation_p.Q2687H|EP400_ENST00000389562.2_Missense_Mutation_p.Q2686H|EP400_ENST00000330386.6_Missense_Mutation_p.Q2606H|EP400_ENST00000332482.4_Missense_Mutation_p.Q2650H			Q96L91	EP400_HUMAN	E1A binding protein p400	2723	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCAGTGCAGACCCCGGCAC	0.627000													16	128					2.35188e-11	4.20957e-11	0.539581	1	0
PIGC	5279	broad.mit.edu	37	1	172411085	172411085	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:172411085C>A	ENST00000367728.1	-	1	2141	c.678G>T	c.(676-678)cgG>cgT	p.R226R	PIGC_ENST00000258324.1_Silent_p.R226R|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Silent_p.R226R|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	226					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CCACATAGCTCCGGGGAGTAC	0.522000													9	88					2.17888e-05	2.95675e-05	0.335167	1	0
ZNF556	80032	broad.mit.edu	37	19	2873515	2873515	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:2873515G>T	ENST00000586426.1	+	2	112	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L	ZNF556_ENST00000307635.2_Missense_Mutation_p.V9L			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGAAGACGTGGTTGTGGA	0.488000													10	128					3.86212e-05	5.10377e-05	0.361761	1	0
C12orf5	57103	broad.mit.edu	37	12	4461597	4461597	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:4461597G>T	ENST00000179259.4	+	6	620	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	185						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TTCAGACAGCGGTATTCCAGG	0.408000													7	131					5.18039e-06	7.25255e-06	0.278610	1	0
IGF1R	3480	broad.mit.edu	37	15	99465616	99465616	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:99465616G>T	ENST00000268035.6	+	11	3052	c.2441G>T	c.(2440-2442)gGc>gTc	p.G814V	IGF1R_ENST00000558762.1_Missense_Mutation_p.G814V	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	814					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAGAAGCTGGGCTGCAGCGCC	0.527000													4	108					0.00116845	0.00136997	0.217242	1	0
NOS1AP	9722	broad.mit.edu	37	1	162326880	162326880	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:162326880A>T	ENST00000361897.5	+	8	1295	c.893A>T	c.(892-894)cAg>cTg	p.Q298L	NOS1AP_ENST00000530878.1_Missense_Mutation_p.Q293L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	298					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ctcctccagcagctcctccag	0.622000													8	71					0	0	0.307466	0	0
MMP16	4325	broad.mit.edu	37	8	89086900	89086900	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:89086900C>A	ENST00000286614.6	-	7	1436	c.1155G>T	c.(1153-1155)tgG>tgT	p.W385C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	385	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GCAAGCCCCGCCAGAAGTAAG	0.438000													9	110					0.00621372	0.00698426	0.335167	1	0
TTN	7273	broad.mit.edu	37	2	179431647	179431647	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:179431647G>A	ENST00000589042.1	-	326	79436	c.79212C>T	c.(79210-79212)acC>acT	p.T26404T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T24763T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.T17531T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T17339T|TTN_ENST00000359218.5_Silent_p.T17464T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.T23836T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24763	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAACAGACGGTCATGGAGT	0.408000													7	103					0	0	0.278610	0	0
ZP2	7783	broad.mit.edu	37	16	21210968	21210968	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:21210968G>T	ENST00000574002.1	-	17	2332	c.1850C>A	c.(1849-1851)gCc>gAc	p.A617D	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.A608D|ZP2_ENST00000219593.4_Missense_Mutation_p.A617D			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	617	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ACAGATTAAGGCACTGCAGTG	0.483000													3	67					0.00909568	0.0100636	0.150653	1	0
SEMA5A	9037	broad.mit.edu	37	5	9197364	9197364	+	Silent	SNP	C	C	A	rs1806117		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:9197364C>A	ENST00000382496.5	-	10	1649	c.984G>T	c.(982-984)gcG>gcT	p.A328A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	328	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.A328A(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGAAGGCCTGCGCGATGGCGC	0.612000													24	145					1.26454e-06	1.87428e-06	0.693898	1	0
OR4S2	219431	broad.mit.edu	37	11	55419059	55419059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:55419059C>A	ENST00000312422.2	+	1	680	c.680C>A	c.(679-681)tCa>tAa	p.S227*		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGAAAGCAGTCAGCAGAAGGC	0.502000													7	147					0.0581538	0.0610917	0.335167	1	0
SECISBP2	79048	broad.mit.edu	37	9	91963091	91963091	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:91963091G>A	ENST00000375807.3	+	12	1771	c.1700G>A	c.(1699-1701)gGt>gAt	p.G567D	SECISBP2_ENST00000534113.2_Missense_Mutation_p.G499D|SECISBP2_ENST00000339901.4_Missense_Mutation_p.G494D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	567					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GGAGAGAGTGGTGGTGATGAC	0.438000													9	168					0	0	0.457914	0	0
MUC16	94025	broad.mit.edu	37	19	8987249	8987249	+	Silent	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:8987249G>C	ENST00000397910.4	-	68	42041	c.41838C>G	c.(41836-41838)tcC>tcG	p.S13946S	MUC16_ENST00000380951.5_Silent_p.S587S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13971	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAACTTGAGGGAGCCGGGTT	0.617000													5	79					0	0	0.248553	0	0
GRM6	2916	broad.mit.edu	37	5	178419059	178419059	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:178419059G>T	ENST00000231188.5	-	2	708	c.530C>A	c.(529-531)aCa>aAa	p.T177K	GRM6_ENST00000517717.1_Missense_Mutation_p.T177K	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	177					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTCCGGGGCTGTGGAGGCATA	0.627000													6	58					0.00198382	0.00229928	0.248553	1	0
BEST3	144453	broad.mit.edu	37	12	70049230	70049230	+	Silent	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:70049230G>C	ENST00000330891.5	-	10	1690	c.1464C>G	c.(1462-1464)tcC>tcG	p.S488S	BEST3_ENST00000488961.1_Silent_p.S275S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.S382S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	488						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTCTCACACTGGACTGTGGGG	0.562000													8	201					0	0	0.278610	0	0
ADCY5	111	broad.mit.edu	37	3	123049777	123049777	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:123049777G>T	ENST00000462833.1	-	5	2817	c.1605C>A	c.(1603-1605)caC>caA	p.H535Q	ADCY5_ENST00000491190.1_Missense_Mutation_p.H168Q|ADCY5_ENST00000309879.5_Missense_Mutation_p.H185Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	535	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCACACAGCAGTGGGCGTGGT	0.562000													6	72					0.00116845	0.00136997	0.217242	1	0
CDH13	1012	broad.mit.edu	37	16	83781774	83781774	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:83781774G>C	ENST00000566620.1	+	11	1890	c.1600G>C	c.(1600-1602)Gac>Cac	p.D534H	RP11-298D21.1_ENST00000563981.1_RNA|RP11-298D21.1_ENST00000570056.1_RNA|CDH13_ENST00000268613.10_Missense_Mutation_p.D581H|RP11-298D21.1_ENST00000569165.1_RNA|CDH13_ENST00000428848.3_Missense_Mutation_p.D495H	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	534	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGGGACTGTTGACACCACAGC	0.473000													11	197					0	0	0.387290	0	0
RUNX1T1	862	broad.mit.edu	37	8	93088193	93088193	+	Splice_Site	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:93088193C>A	ENST00000523629.1	-	2	542	c.88_splice	c.e2+1	p.D30_splice	RUNX1T1_ENST00000520724.1_Intron|RUNX1T1_ENST00000518844.1_5'UTR|RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000265814.3_Splice_Site_p.D30_splice|RUNX1T1_ENST00000522163.1_5'UTR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	30		Breakpoint for translocation to form AML1-MTG8 in AML-M2.			generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTTCCTTACCTTGACAATAT	0.308000													8	136					2.17888e-05	2.95675e-05	0.335167	1	0
CPNE3	8895	broad.mit.edu	37	8	87570549	87570549	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:87570549G>T	ENST00000521271.1	+	17	1687	c.1525G>T	c.(1525-1527)Gca>Tca	p.A509S	CPNE3_ENST00000198765.4_Missense_Mutation_p.A509S	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	509	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGTGTCTTGGCAGAGATTCC	0.428000													5	128					0.0215528	0.0232284	0.217242	1	0
DCLRE1B	64858	broad.mit.edu	37	1	114450790	114450790	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:114450790A>C	ENST00000369563.3	+	3	961	c.515A>C	c.(514-516)cAc>cCc	p.H172P	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	172					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTCGAAAACACCCACAACAT	0.418000								Other identified genes with known or suspected DNA repair function					15	114					0	0	0.592651	0	0
SAMD9	54809	broad.mit.edu	37	7	92734185	92734185	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:92734185T>C	ENST00000379958.2	-	3	1495	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	409						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTTCATAGTATGAATTATC	0.308000													7	41					0	0	0.278610	0	0
OPHN1	4983	broad.mit.edu	37	X	67454407	67454407	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:67454407C>G	ENST00000355520.5	-	6	1049	c.408G>C	c.(406-408)aaG>aaC	p.K136N	OPHN1_ENST00000540071.1_Missense_Mutation_p.K136N	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	136					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCTCACCATCCTTTTCAAATT	0.403000													7	110					0	0	0.278610	0	0
OR10G8	219869	broad.mit.edu	37	11	123900892	123900892	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:123900892G>T	ENST00000431524.1	+	1	596	c.563G>T	c.(562-564)tGt>tTt	p.C188F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAACTGGCCTGTGCAGACACC	0.512000													22	209					9.57634e-11	1.6842e-10	0.654019	1	0
HSPA6	3310	broad.mit.edu	37	1	161494745	161494745	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:161494745G>T	ENST00000309758.4	+	1	710	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	99					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGTGAGCGAGGGCGGCAAGC	0.627000													7	98					3.86212e-05	5.10377e-05	0.361761	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798207	55798207	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:55798207G>A	ENST00000313555.1	+	1	313	c.313G>A	c.(313-315)Gct>Act	p.A105T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A105T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTTTCTTCGCTTCTTTTGC	0.463000													4	42					0	0	0.184627	0	0
ATP2B2	491	broad.mit.edu	37	3	10413499	10413499	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:10413499C>T	ENST00000397077.1	-	11	2093	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	ATP2B2_ENST00000383800.4_Silent_p.K506K|ATP2B2_ENST00000360273.2_Silent_p.K551K|ATP2B2_ENST00000352432.4_Silent_p.K551K|ATP2B2_ENST00000343816.4_Silent_p.K537K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	551					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTACCAGAATCTTGGTGGTGT	0.527000													7	52					0	0	0.335167	0	0
ADAM29	11086	broad.mit.edu	37	4	175897069	175897069	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:175897069C>A	ENST00000359240.3	+	5	1063	c.393C>A	c.(391-393)gaC>gaA	p.D131E	ADAM29_ENST00000404450.4_Missense_Mutation_p.D131E|ADAM29_ENST00000514159.1_Missense_Mutation_p.D131E|ADAM29_ENST00000445694.1_Missense_Mutation_p.D131E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	131					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGATAAATGACTTTGCTTATG	0.413000													8	110					0.000442599	0.000546104	0.335167	1	0
EXOSC9	5393	broad.mit.edu	37	4	122724173	122724173	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:122724173G>T	ENST00000512454.1	+	3	552		c.e3+1		EXOSC9_ENST00000379663.3_Splice_Site|EXOSC9_ENST00000243498.5_Splice_Site|EXOSC9_ENST00000509980.1_Splice_Site			Q06265	EXOS9_HUMAN	exosome component 9						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TGGTGAAAAGGTGGGGAATAT	0.383000													8	65					5.4927e-09	9.01007e-09	0.307466	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	41					3.45872e-05	4.67555e-05	0.500413	1	0
F9	2158	broad.mit.edu	37	X	138644090	138644090	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:138644090G>T	ENST00000218099.2	+	8	1253	c.1246G>T	c.(1246-1248)Gtt>Ttt	p.V416F	F9_ENST00000394090.2_Missense_Mutation_p.V378F	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	416	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GGGACCCCATGTTACTGAAGT	0.433000													6	151					0.00307968	0.0035289	0.278610	1	0
TRAPPC11	60684	broad.mit.edu	37	4	184585217	184585217	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:184585217G>T	ENST00000334690.6	+	2	399	c.197G>T	c.(196-198)aGa>aTa	p.R66I	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.R66I	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	66																	CCCAAATGTAGACCCAAGGTA	0.463000													5	137					0.00116845	0.00136997	0.217242	1	0
MCM10	55388	broad.mit.edu	37	10	13233305	13233305	+	Silent	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:13233305A>T	ENST00000378694.1	+	10	1497	c.1422A>T	c.(1420-1422)gcA>gcT	p.A474A	MCM10_ENST00000378714.3_Silent_p.A474A|MCM10_ENST00000484800.2_Silent_p.A475A			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	475					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCAGTGCAGCAGCTGTGGCTC	0.423000													7	71					0	0	0.248553	0	0
C12orf29	91298	broad.mit.edu	37	12	88440619	88440619	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:88440619A>G	ENST00000356891.3	+	6	858	c.655A>G	c.(655-657)Ata>Gta	p.I219V	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	219										large_intestine(3)|lung(1)|ovary(1)	5						ACATCTTCTTATACCACATGG	0.363000													3	134					0	0	0.150653	0	0
FAM47C	442444	broad.mit.edu	37	X	37028454	37028454	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:37028454G>C	ENST00000358047.3	+	1	2023	c.1971G>C	c.(1969-1971)gaG>gaC	p.E657D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	657										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						TCTGCCCAGAGCCTCCCAAGA	0.637000													8	174					0	0	0.335167	0	0
CEACAM3	1084	broad.mit.edu	37	19	42312900	42312900	+	Silent	SNP	C	C	A	rs145677316		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:42312900C>A	ENST00000357396.3	+	3	715	c.474C>A	c.(472-474)acC>acA	p.T158T	CEACAM3_ENST00000221999.4_Silent_p.T158T|CEACAM3_ENST00000344550.4_Silent_p.T158T|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	158						integral to membrane		p.T158T(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GCATCGTGACCGGGGTCCTGG	0.602000													24	235					9.57634e-11	1.6842e-10	0.654019	1	0
ICOSLG	23308	broad.mit.edu	37	21	45656865	45656865	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:45656865G>T	ENST00000407780.3	-	3	418	c.291C>A	c.(289-291)tcC>tcA	p.S97S	ICOSLG_ENST00000344330.4_Silent_p.S97S|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.S97S			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	97	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		ACAAGCGCAGGGAGAAGTCGC	0.592000													10	91					1.33987e-11	2.42273e-11	0.361761	1	0
SDE2	163859	broad.mit.edu	37	1	226180674	226180674	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:226180674C>G	ENST00000272091.7	-	3	286	c.268G>C	c.(268-270)Gct>Cct	p.A90P	SDE2_ENST00000366817.1_Silent_p.V38V	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TCAATCTGAGCACCAAGTGCT	0.428000													7	63					0	0	0.361761	0	0
CLCN7	1186	broad.mit.edu	37	16	1507299	1507299	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:1507299C>T	ENST00000382745.4	-	9	1383	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	CLCN7_ENST00000448525.1_Missense_Mutation_p.G236R|CLCN7_ENST00000262318.8_Missense_Mutation_p.G236R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	260						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGAGAGATCCCGGCGGCAATC	0.592000													8	131					0	0	0.335167	0	0
ADAM9	8754	broad.mit.edu	37	8	38899496	38899496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:38899496G>T	ENST00000487273.2	+	12	1240	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	388	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTGCAGTGCAGAGGACTTTGA	0.363000													6	57					5.18039e-06	7.25255e-06	0.278610	1	0
OR11L1	391189	broad.mit.edu	37	1	248004467	248004467	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:248004467G>T	ENST00000355784.2	-	1	787	c.732C>A	c.(730-732)caC>caA	p.H244Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAACAGCCAGGTGGGAGCCAC	0.488000													8	110					1.12685e-05	1.55299e-05	0.307466	1	0
RUNX3	864	broad.mit.edu	37	1	25254076	25254076	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:25254076C>A	ENST00000399916.1	-	3	908	c.470G>T	c.(469-471)cGc>cTc	p.R157L	RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Missense_Mutation_p.R50L|RUNX3_ENST00000338888.3_Missense_Mutation_p.R157L|RUNX3_ENST00000308873.6_Missense_Mutation_p.R143L	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	143	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TCGCCCACTGCGGCCCACGAA	0.597000													6	150					0.00116845	0.00136997	0.217242	1	0
LMX1A	4009	broad.mit.edu	37	1	165218685	165218685	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:165218685C>T	ENST00000342310.3	-	4	838	c.456G>A	c.(454-456)cgG>cgA	p.R152R	LMX1A_ENST00000367893.4_Silent_p.R152R|LMX1A_ENST00000294816.2_Silent_p.R152R	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	152	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGAGCAGCTCCCGCTCCTTCT	0.622000													8	127					0	0	0.307466	0	0
SYT6	148281	broad.mit.edu	37	1	114680331	114680331	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:114680331T>G	ENST00000393296.1	-	3	934	c.857A>C	c.(856-858)cAc>cCc	p.H286P	SYT6_ENST00000369547.1_Missense_Mutation_p.H201P			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	286	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTCTTGCGGTGCACCCGGGT	0.547000													7	82					0	0	0.307466	0	0
OXCT1	5019	broad.mit.edu	37	5	41842860	41842860	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:41842860G>C	ENST00000196371.5	-	6	748	c.588C>G	c.(586-588)caC>caG	p.H196Q	OXCT1_ENST00000509987.1_Missense_Mutation_p.H10Q	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	196					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CCAAAATAAAGTGCTGACCAT	0.448000													9	318					0	0	0.411799	0	0
LAMA4	3910	broad.mit.edu	37	6	112466014	112466014	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:112466014G>T	ENST00000230538.7	-	19	2872	c.2475C>A	c.(2473-2475)acC>acA	p.T825T	LAMA4_ENST00000424408.2_Silent_p.T818T|LAMA4_ENST00000389463.4_Silent_p.T818T|LAMA4_ENST00000522006.1_Silent_p.T818T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	825	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAACACTTCTGGTCTGAGCAA	0.517000													18	138					6.94344e-10	1.1829e-09	0.539581	1	0
ZNF536	9745	broad.mit.edu	37	19	30934624	30934624	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:30934624C>A	ENST00000355537.3	+	2	302	c.155C>A	c.(154-156)cCc>cAc	p.P52H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGCTCCATCCCCGGCCCAAC	0.677000													8	175					1.58986e-06	2.32719e-06	0.361761	1	0
MARCH4	57574	broad.mit.edu	37	2	217124067	217124067	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:217124067G>T	ENST00000273067.4	-	4	2967	c.1201C>A	c.(1201-1203)Cga>Aga	p.R401R		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	401						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCAGCTCTCGGCTGCTGCCT	0.612000													28	152					5.09552e-08	8.07743e-08	0.750413	1	0
ZNF582	147948	broad.mit.edu	37	19	56901391	56901391	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:56901391C>A	ENST00000301310.4	-	4	369	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	ZNF582_ENST00000586929.1_Missense_Mutation_p.V71L	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CCTCCAGACACCACTCTCTCC	0.537000													8	79					7.48243e-07	1.12316e-06	0.335167	1	0
KIF2B	84643	broad.mit.edu	37	17	51902396	51902396	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:51902396G>T	ENST00000268919.4	+	1	2158	c.2002G>T	c.(2002-2004)Gtg>Ttg	p.V668L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	668					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGACCTCCACGTGAAGAGCAA	0.438000													5	53					2.0095e-06	2.88763e-06	0.248553	1	0
OR4A16	81327	broad.mit.edu	37	11	55111122	55111122	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:55111122G>T	ENST00000314721.2	+	1	496	c.446G>T	c.(445-447)gGa>gTa	p.G149V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GCCATGATTGGAGGTTTTGTG	0.458000													6	145					3.59834e-05	4.80912e-05	0.217242	1	0
PML	5371	broad.mit.edu	37	15	74315681	74315681	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:74315681G>T	ENST00000565898.1	+	3	1199	c.1115G>T	c.(1114-1116)cGc>cTc	p.R372L	PML_ENST00000268058.3_Missense_Mutation_p.R372L|PML_ENST00000268059.6_Missense_Mutation_p.R372L|PML_ENST00000567543.1_Missense_Mutation_p.R372L|PML_ENST00000569965.1_Missense_Mutation_p.R372L|PML_ENST00000395135.3_Missense_Mutation_p.R372L|PML_ENST00000354026.6_Missense_Mutation_p.R372L|PML_ENST00000436891.3_Missense_Mutation_p.R372L|PML_ENST00000563500.1_Missense_Mutation_p.R372L|PML_ENST00000435786.2_Missense_Mutation_p.R372L|PML_ENST00000564428.1_Missense_Mutation_p.R372L|PML_ENST00000359928.4_Missense_Mutation_p.R372L|PML_ENST00000395132.2_Missense_Mutation_p.R372L|PML_ENST00000569477.1_Missense_Mutation_p.R372L|PML_ENST00000569161.1_3'UTR			P29590	PML_HUMAN	promyelocytic leukemia	372					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCTGCCGTGCGCACCGATGGC	0.667000			T	"""RARA, PAX5"""	"""APL, ALL"""								4	39					2.56e-06	3.66381e-06	0.150653	1	0
HFM1	164045	broad.mit.edu	37	1	91788737	91788737	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:91788737C>A	ENST00000370425.3	-	22	2545	c.2447G>T	c.(2446-2448)tGc>tTc	p.C816F	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.C495F|HFM1_ENST00000294696.5_Missense_Mutation_p.C48F	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	816	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAATTCCTTGCAGCCAGCTAT	0.294000													12	123					4.93089e-13	9.422e-13	0.457914	1	0
TP53TG3D	729264	broad.mit.edu	37	16	32264985	32264985	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:32264985G>T	ENST00000398664.3	+	1	946	c.311G>T	c.(310-312)aGa>aTa	p.R104I	TP53TG3D_ENST00000354614.3_Missense_Mutation_p.R104I|TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA	NM_001243722.1	NP_001230651.1			TP53 target 3D																		ATACCTTGCAGATCAACAAAG	0.567000													13	266					7.93312e-07	1.18078e-06	0.457914	1	0
DNAH5	1767	broad.mit.edu	37	5	13792276	13792276	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:13792276C>A	ENST00000265104.4	-	50	8379	c.8275G>T	c.(8275-8277)Gtg>Ttg	p.V2759L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2759	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAATCTCTCACTTCTTCTGAG	0.423000									Kartagener syndrome				12	68					6.31663e-08	9.96843e-08	0.479597	1	0
ERBB3	2065	broad.mit.edu	37	12	56477557	56477557	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:56477557C>G	ENST00000267101.3	+	2	545	c.105C>G	c.(103-105)ggC>ggG	p.G35G	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_5'UTR|ERBB3_ENST00000411731.2_Silent_p.G35G	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	35					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTCTGAATGGCCTGAGTGTGA	0.547000													16	282					0	0	0.500413	0	0
TMEM187	8269	broad.mit.edu	37	X	153247658	153247658	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:153247658C>T	ENST00000369982.4	+	2	892	c.145C>T	c.(145-147)Cct>Tct	p.P49S		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	49						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGGCCTCCCTGCCTTCCT	0.662000													7	151					0	0	0.307466	0	0
CACNA1E	777	broad.mit.edu	37	1	181767764	181767764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:181767764G>T	ENST00000526775.1	+	46	6715	c.6550G>T	c.(6550-6552)Gag>Tag	p.E2184*	CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E2227*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E2135*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.E2246*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E1810*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E2203*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E2197*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2246					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGACTGTGGTGAGGAGGAGAC	0.642000													8	22					3.09899e-07	4.72194e-07	0.307466	1	0
ABCB7	22	broad.mit.edu	37	X	74318789	74318789	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:74318789C>A	ENST00000253577.3	-	4	468	c.444G>T	c.(442-444)ttG>ttT	p.L148F	ABCB7_ENST00000373394.3_Missense_Mutation_p.L147F|ABCB7_ENST00000339447.4_Intron	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	147	ABC transmembrane type-1.				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						TTGCACCACCCAAAAATCCCA	0.393000													12	182					3.52763e-06	4.99807e-06	0.520397	1	0
DDX55	57696	broad.mit.edu	37	12	124091977	124091977	+	Splice_Site	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:124091977A>T	ENST00000238146.4	+	4	296		c.e4-1		DDX55_ENST00000538744.1_Splice_Site	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55								ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCATGTGGGTAGGTTGGAGCC	0.537000													4	36					0	0	0.217242	0	0
DLX2	1746	broad.mit.edu	37	2	172966336	172966336	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:172966336C>A	ENST00000234198.4	-	2	800	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	DLX2_ENST00000466293.2_Missense_Mutation_p.G147W	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TTTGGCTTCCCGTTCACTATC	0.542000													5	73					5.9392e-07	8.97225e-07	0.217242	1	0
ANTXR1	84168	broad.mit.edu	37	2	69409731	69409731	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:69409731G>A	ENST00000303714.4	+	16	1614	c.1292G>A	c.(1291-1293)cGa>cAa	p.R431Q		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	431					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCTGAGCCGCGAAATCTCAAC	0.473000									Familial Infantile Hemangioma				6	145					0	0	0.248553	0	0
HMCN1	83872	broad.mit.edu	37	1	186050389	186050389	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:186050389G>T	ENST00000271588.4	+	56	8879	c.8650G>T	c.(8650-8652)Gtg>Ttg	p.V2884L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V2884L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2884	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGGTCACCGTGCTGGTGAA	0.473000													29	290					6.00712e-18	1.2346e-17	0.760397	1	0
HLF	3131	broad.mit.edu	37	17	53345382	53345382	+	Missense_Mutation	SNP	G	G	T	rs149891661	by1000genomes	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:53345382G>T	ENST00000226067.5	+	2	859	c.386G>T	c.(385-387)cGg>cTg	p.R129L	HLF_ENST00000430986.2_Missense_Mutation_p.R44L|HLF_ENST00000575345.1_Missense_Mutation_p.R44L|HLF_ENST00000573945.1_Missense_Mutation_p.R44L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	129					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CTCAGCAGCCGGGCCTCTGCA	0.627000			T	TCF3	ALL								19	184					4.26978e-12	7.84086e-12	0.654019	1	0
MYH11	4629	broad.mit.edu	37	16	15808810	15808810	+	Missense_Mutation	SNP	G	G	T	rs146391904		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:15808810G>T	ENST00000338282.6	-	40	5848	c.5742C>A	c.(5740-5742)aaC>aaA	p.N1914K	MYH11_ENST00000396324.3_Missense_Mutation_p.N1921K|MYH11_ENST00000576790.1_Missense_Mutation_p.N1914K|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.N1921K|MYH11_ENST00000300036.5_Missense_Mutation_p.N1914K|NDE1_ENST00000396354.1_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1914					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCATGGCCTCGTTGCTCTCCG	0.652000			T	CBFB	AML								9	234					1.33987e-11	2.42273e-11	0.361761	1	0
KHSRP	8570	broad.mit.edu	37	19	6418511	6418511	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:6418511C>G	ENST00000398148.3	-	9	954	c.862G>C	c.(862-864)Gat>Cat	p.D288H		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	288	Gly-rich.|KH 2.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTGTAAGGATCCCCAATGATG	0.562000													5	47					0	0	0.248553	0	0
OR10S1	219873	broad.mit.edu	37	11	123847545	123847545	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:123847545G>A	ENST00000531945.1	-	1	943	c.854C>T	c.(853-855)gCc>gTc	p.A285V		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GACAGCAGGGGCCCCAGCTCC	0.552000													12	145					0	0	0.539581	0	0
COG2	22796	broad.mit.edu	37	1	230822839	230822839	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:230822839C>G	ENST00000534989.1	+	13	1697	c.1362C>G	c.(1360-1362)ctC>ctG	p.L454L	COG2_ENST00000366669.4_Silent_p.L513L|COG2_ENST00000535166.1_Silent_p.L397L|COG2_ENST00000366668.3_Silent_p.L513L|COG2_ENST00000546013.1_Silent_p.L202L			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	513					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCACTCAGCTCGTGTATGTGG	0.483000													3	70					0	0	0.184627	0	0
C9orf96	169436	broad.mit.edu	37	9	136245975	136245975	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:136245975C>A	ENST00000371957.3	+	2	263	c.156C>A	c.(154-156)gtC>gtA	p.V52V	C9orf96_ENST00000426926.2_Silent_p.V52V|C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	52	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AAACCAAAGTCAAGCATGTGA	0.502000													6	67					0.00198382	0.00229928	0.248553	1	0
MAST4	375449	broad.mit.edu	37	5	66461312	66461312	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:66461312G>C	ENST00000404260.3	+	29	6622	c.6314G>C	c.(6313-6315)aGt>aCt	p.S2105T	MAST4_ENST00000403666.1_Missense_Mutation_p.S1913T|MAST4_ENST00000405643.1_Missense_Mutation_p.S1923T|MAST4_ENST00000261569.7_Missense_Mutation_p.S1908T|MAST4_ENST00000403625.2_Missense_Mutation_p.S2102T			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2105						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGTGAGAAGAGTGAAAAGCTC	0.567000													8	47					0	0	0.335167	0	0
FRAS1	80144	broad.mit.edu	37	4	79285087	79285087	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:79285087C>T	ENST00000264895.6	+	22	3041	c.2601C>T	c.(2599-2601)tgC>tgT	p.C867C	FRAS1_ENST00000325942.6_Silent_p.C867C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	867					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCAGAACCTGCCAGGGCAGAG	0.547000													3	30					0	0	0.150653	0	0
PDE3A	5139	broad.mit.edu	37	12	20792882	20792882	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:20792882G>T	ENST00000359062.3	+	10	2282	c.2242G>T	c.(2242-2244)Gat>Tat	p.D748Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	748	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGATATAGGGATATTCCTTG	0.318000													6	63					0.0293803	0.0312359	0.248553	1	0
PPRC1	23082	broad.mit.edu	37	10	103904063	103904063	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:103904063G>T	ENST00000278070.2	+	7	3646	c.3608_splice	c.e7+1	p.G1203_splice	PPRC1_ENST00000370012.1_Splice_Site_p.G170_splice|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Splice_Site_p.G1203_splice	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGGAAACTCAGGGTAAGTATG	0.517000													6	68					0.0381472	0.0402539	0.278610	1	0
PI4KA	5297	broad.mit.edu	37	22	21192992	21192992	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr22:21192992C>A	ENST00000255882.6	-	2	270	c.184G>T	c.(184-186)Gtg>Ttg	p.V62L	PI4KA_ENST00000572273.1_Missense_Mutation_p.V4L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	4					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGAAATCCACTGGACACATG	0.408000													8	124					0.00307968	0.0035289	0.278610	1	0
TTN	7273	broad.mit.edu	37	2	179451888	179451888	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:179451888G>T	ENST00000589042.1	-	307	64274	c.64050C>A	c.(64048-64050)gtC>gtA	p.V21350V	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V19709V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.V12477V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V12285V|TTN_ENST00000359218.5_Silent_p.V12410V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.V18782V|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19709	Ig-like 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTGTTGGGACGCCAGGGC	0.438000													16	282					1.40151e-16	2.86378e-16	0.592651	1	0
PASD1	139135	broad.mit.edu	37	X	150789477	150789477	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:150789477C>G	ENST00000370357.4	+	5	528	c.283C>G	c.(283-285)Ctc>Gtc	p.L95V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	95	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGATTATTCTCAAATTTCC	0.353000													4	171					0	0	0.184627	0	0
CDAN1	146059	broad.mit.edu	37	15	43025385	43025385	+	Splice_Site	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:43025385C>A	ENST00000356231.3	-	9	1391		c.e9-1			NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1							integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AAACACATCCCTGACGCATAA	0.552000													5	85					1.26484e-09	2.13424e-09	0.278610	1	0
OR56B1	387748	broad.mit.edu	37	11	5758484	5758484	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:5758484C>G	ENST00000317121.3	+	1	804	c.738C>G	c.(736-738)gcC>gcG	p.A246A	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CAGCCAAGGCCCTGAGCACTT	0.413000													4	162					0	0	0.150653	0	0
NR1H4	9971	broad.mit.edu	37	12	100934501	100934501	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:100934501C>G	ENST00000548884.1	+	9	1512	c.971C>G	c.(970-972)gCg>gGg	p.A324G	NR1H4_ENST00000392986.3_Missense_Mutation_p.A328G|NR1H4_ENST00000549996.1_Missense_Mutation_p.A277G|NR1H4_ENST00000188403.7_Missense_Mutation_p.A334G|NR1H4_ENST00000551379.1_Missense_Mutation_p.A338G	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	338	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AAAGGGTCTGCGGTTGAAGCT	0.388000													11	145					0	0	0.411799	0	0
AMICA1	120425	broad.mit.edu	37	11	118071236	118071236	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:118071236C>G	ENST00000292067.7	-	6	1275	c.834G>C	c.(832-834)ctG>ctC	p.L278L	AMICA1_ENST00000356289.5_Silent_p.L288L|AMICA1_ENST00000533261.1_Silent_p.L277L|AMICA1_ENST00000526620.1_Silent_p.L249L	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	288					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAACAGGGAGCAGCAGGATTG	0.557000													3	80					0	0	0.184627	0	0
CRNKL1	51340	broad.mit.edu	37	20	20036618	20036618	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:20036618G>A	ENST00000377340.2	-	1	72	c.41C>T	c.(40-42)aCt>aTt	p.T14I	C20orf26_ENST00000377306.1_Intron|C20orf26_ENST00000245957.5_Intron|C20orf26_ENST00000389656.3_Intron|CRNKL1_ENST00000377327.4_Missense_Mutation_p.T14I|C20orf26_ENST00000377309.2_Intron	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	14					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						atttcccaaagtgtccttctg	0.413000													12	137					0	0	0.520397	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761699	130761699	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:130761699C>A	ENST00000392429.1	+	2	2510	c.132C>A	c.(130-132)ccC>ccA	p.P44P	TMEM200A_ENST00000545622.1_Silent_p.P44P|TMEM200A_ENST00000296978.3_Silent_p.P44P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	44						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGCGCCGGCCCCGGGCAGATG	0.512000													11	176					0.0202918	0.0221052	0.457914	1	0
OR10H4	126541	broad.mit.edu	37	19	16060291	16060291	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:16060291G>A	ENST00000322107.1	+	1	474	c.474G>A	c.(472-474)atG>atA	p.M158I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCATGGGGATGATGGTGACAA	0.517000													6	136					0	0	0.248553	0	0
BDNF	627	broad.mit.edu	37	11	27679716	27679716	+	Silent	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:27679716A>T	ENST00000525528.1	-	1	1489	c.396T>A	c.(394-396)ccT>ccA	p.P132P	BDNF_ENST00000525950.1_Silent_p.P132P|BDNF_ENST00000439476.2_Silent_p.P132P|BDNF_ENST00000533131.1_Silent_p.P132P|BDNF_ENST00000314915.6_Silent_p.P140P|BDNF_ENST00000395980.2_Silent_p.P132P|BDNF_ENST00000395986.2_Silent_p.P147P|BDNF_ENST00000418212.1_Silent_p.P132P|BDNF_ENST00000356660.4_Silent_p.P132P|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000420794.1_Silent_p.P132P|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000532997.1_Silent_p.P132P|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395978.3_Silent_p.P132P|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Silent_p.P214P|BDNF_ENST00000395983.3_Silent_p.P132P|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000533246.1_Silent_p.P132P|BDNF_ENST00000395981.3_Silent_p.P132P|BDNF_ENST00000530861.1_Silent_p.P132P	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	132						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTCGGCGGGCAGGGTCAGAGT	0.552000													8	116					0	0	0.335167	0	0
ANKMY1	51281	broad.mit.edu	37	2	241496706	241496706	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:241496706C>A	ENST00000401804.1	-	2	185	c.47G>T	c.(46-48)gGg>gTg	p.G16V	ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G16V|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G16V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G95V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G16V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G16V|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCTGCCAGCCCCAGAGACTTC	0.652000													4	86					0.014758	0.0161515	0.184627	1	0
DRP2	1821	broad.mit.edu	37	X	100500401	100500401	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:100500401G>T	ENST00000395209.3	+	11	1667	c.1140G>T	c.(1138-1140)tgG>tgT	p.W380C	DRP2_ENST00000538510.1_Missense_Mutation_p.W380C|DRP2_ENST00000541709.1_Missense_Mutation_p.W302C|DRP2_ENST00000402866.1_Missense_Mutation_p.W380C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	380	WW.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCACATGCTGGGACCATCCCA	0.493000													3	26					0.00024832	0.000311281	0.150653	1	0
MYH2	4620	broad.mit.edu	37	17	10424632	10424632	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:10424632G>T	ENST00000245503.5	-	40	6175	c.5791C>A	c.(5791-5793)Cgg>Agg	p.R1931R	MYH2_ENST00000397183.2_Silent_p.R1931R|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.R698R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1931					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAACCTCCCGGCTCTTCACC	0.502000													33	230					2.19358e-23	4.67127e-23	0.812448	1	0
CLCN7	1186	broad.mit.edu	37	16	1507298	1507298	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:1507298C>A	ENST00000382745.4	-	9	1384	c.779G>T	c.(778-780)gGg>gTg	p.G260V	CLCN7_ENST00000448525.1_Missense_Mutation_p.G236V|CLCN7_ENST00000262318.8_Missense_Mutation_p.G236V	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	260						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTGAGAGATCCCGGCGGCAAT	0.592000													7	131					2.52707e-12	4.68934e-12	0.335167	1	0
EPPK1	83481	broad.mit.edu	37	8	144941186	144941186	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:144941186C>A	ENST00000525985.1	-	2	6307	c.6236G>T	c.(6235-6237)gGc>gTc	p.G2079V				P58107	EPIPL_HUMAN	epiplakin 1	2079						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCAGCCAGCCCGTGTCCTC	0.592000													15	82					7.93312e-07	1.18078e-06	0.457914	1	0
TOX4	9878	broad.mit.edu	37	14	21961228	21961228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:21961228C>T	ENST00000405508.1	+	8	1729	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	TOX4_ENST00000262709.3_Nonsense_Mutation_p.Q485*|TOX4_ENST00000448790.2_Nonsense_Mutation_p.Q462*			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	485	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AATCAATTTACAGCAACAGCC	0.532000													9	146					0	0	0.387290	0	0
GPR112	139378	broad.mit.edu	37	X	135426804	135426804	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:135426804T>C	ENST00000394143.1	+	6	1230	c.939T>C	c.(937-939)ttT>ttC	p.F313F	GPR112_ENST00000370652.1_Silent_p.F313F|GPR112_ENST00000394141.1_Silent_p.F108F|GPR112_ENST00000287534.4_Silent_p.F250F|GPR112_ENST00000412101.1_Silent_p.F108F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	313					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGCTACATTTGCAGTGGATG	0.373000													13	113					0	0	0.457914	0	0
COL4A5	1287	broad.mit.edu	37	X	107938530	107938530	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:107938530G>T	ENST00000328300.6	+	52	5099	c.4855G>T	c.(4855-4857)Gcc>Tcc	p.A1619S	COL4A5_ENST00000361603.2_Missense_Mutation_p.A1613S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1613	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCAGGTCAAGCCCTAGCCTC	0.483000									Alport syndrome with Diffuse Leiomyomatosis				16	181					2.35188e-11	4.20957e-11	0.539581	1	0
GREB1	9687	broad.mit.edu	37	2	11758936	11758936	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:11758936A>T	ENST00000381486.2	+	22	4235	c.3935A>T	c.(3934-3936)tAc>tTc	p.Y1312F	GREB1_ENST00000396123.1_Missense_Mutation_p.Y310F|GREB1_ENST00000234142.5_Missense_Mutation_p.Y1312F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1312						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCCTCTACTACCGGCAGTGG	0.701000													10	56					0	0	0.387290	0	0
CDKL5	6792	broad.mit.edu	37	X	18600059	18600059	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:18600059T>A	ENST00000379989.3	+	8	737	c.452T>A	c.(451-453)cTg>cAg	p.L151Q	CDKL5_ENST00000379996.3_Missense_Mutation_p.L151Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	151	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GTCCTAAAACTGTGTGACTTT	0.279000													9	236					0	0	0.361761	0	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:7577556C>A	ENST00000420246.2	-	7	857	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000269305.4_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (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.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCGCCCATGCAGGAACTGTT	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	87					2.48551e-13	4.78815e-13	0.520397	1	0
VWC2L	402117	broad.mit.edu	37	2	215440491	215440491	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:215440491T>A	ENST00000312504.5	+	4	1418	c.616T>A	c.(616-618)Tgg>Agg	p.W206R	AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	206						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CGGGGACTGGTGGAAGCCTGC	0.478000													19	324					0	0	0.608945	0	0
TTN	7273	broad.mit.edu	37	2	179595301	179595301	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:179595301C>A	ENST00000589042.1	-	61	18183	c.17959G>T	c.(17959-17961)Ggg>Tgg	p.G5987W	TTN_ENST00000591111.1_Missense_Mutation_p.G5670W|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4743W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5670	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTATGTCCCACTGTCTGTA	0.413000													18	175					1.50039e-11	2.70606e-11	0.608945	1	0
CCDC39	339829	broad.mit.edu	37	3	180359854	180359854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:180359854C>A	ENST00000273654.4	-	19	2672	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	CCDC39_ENST00000442201.2_Nonsense_Mutation_p.E601*			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	601					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGATTTCTTCAGTTCGCTCT	0.358000													6	114					0.00307968	0.0035289	0.278610	1	0
DYSF	8291	broad.mit.edu	37	2	71838400	71838400	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:71838400C>A	ENST00000258104.3	+	37	4206	c.3929C>A	c.(3928-3930)cCa>cAa	p.P1310Q	DYSF_ENST00000409651.1_Missense_Mutation_p.P1342Q|DYSF_ENST00000429174.2_Missense_Mutation_p.P1310Q|DYSF_ENST00000409744.1_Missense_Mutation_p.P1297Q|DYSF_ENST00000410041.1_Missense_Mutation_p.P1328Q|DYSF_ENST00000410020.3_Missense_Mutation_p.P1328Q|DYSF_ENST00000409582.3_Missense_Mutation_p.P1327Q|DYSF_ENST00000394120.2_Missense_Mutation_p.P1311Q|DYSF_ENST00000409762.1_Missense_Mutation_p.P1327Q|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.P1341Q|DYSF_ENST00000409366.1_Missense_Mutation_p.P1311Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1310						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGCCCTACCCACCACCCCAG	0.582000													4	57					5.9392e-07	8.97225e-07	0.217242	1	0
SPTA1	6708	broad.mit.edu	37	1	158651334	158651334	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:158651334C>G	ENST00000368148.3	-	4	694	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.E172Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	172					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAATCCACTCTAAGATGTCA	0.527000													18	495					0	0	0.575678	0	0
FKBPL	63943	broad.mit.edu	37	6	32096886	32096886	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:32096886C>A	ENST00000375156.3	-	2	942	c.672G>T	c.(670-672)ggG>ggT	p.G224G		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	224					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTTCAGGGTTCCCAGCTCGAA	0.592000													4	150					0.150653	0.156866	0.150653	1	0
CEP120	153241	broad.mit.edu	37	5	122729125	122729125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:122729125C>A	ENST00000306467.5	-	6	983	c.679G>T	c.(679-681)Gga>Tga	p.G227*	CEP120_ENST00000306481.6_Nonsense_Mutation_p.G201*|CEP120_ENST00000328236.5_Nonsense_Mutation_p.G227*|CEP120_ENST00000395431.2_Nonsense_Mutation_p.G227*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	227						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ACATCATTTCCCAGTAAAGAG	0.363000													17	102					1.00905e-13	1.95988e-13	0.575678	1	0
ABCG1	9619	broad.mit.edu	37	21	43706075	43706075	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:43706075G>T	ENST00000398437.1	+	9	1530	c.1382G>T	c.(1381-1383)tGc>tTc	p.C461F	ABCG1_ENST00000398449.3_Missense_Mutation_p.C315F|ABCG1_ENST00000398457.2_Missense_Mutation_p.C317F|ABCG1_ENST00000361802.2_Missense_Mutation_p.C315F|ABCG1_ENST00000343687.3_Missense_Mutation_p.C326F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.C312F|ABCG1_ENST00000340588.4_Missense_Mutation_p.C423F			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	315	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTCTGAACTGCCCAACCTAC	0.498000													16	249					1.02788e-11	1.87781e-11	0.520397	1	0
GPR139	124274	broad.mit.edu	37	16	20043524	20043524	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:20043524A>T	ENST00000570682.1	-	2	895	c.595T>A	c.(595-597)Ttc>Atc	p.F199I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	199						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AAGATGAAGAAGATGGAGCAG	0.522000													10	85					0	0	0.361761	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21448710	21448710	+	Silent	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:21448710A>T	ENST00000307378.6	-	11	1812	c.1092T>A	c.(1090-1092)ccT>ccA	p.P364P	SLCO1A2_ENST00000452078.1_Silent_p.P364P|SLCO1A2_ENST00000390670.3_Silent_p.P362P|SLCO1A2_ENST00000458504.1_Silent_p.P232P|SLCO1A2_ENST00000537524.1_Silent_p.P232P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	364					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TACATATTGGAGGTAAGTTAT	0.279000													5	32					0	0	0.217242	0	0
RGS16	6004	broad.mit.edu	37	1	182571618	182571618	+	Splice_Site	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:182571618T>A	ENST00000367558.5	-	3	305	c.155_splice	c.e3-1	p.R53_splice		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	53					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GAGAAGTTTCTACTaaaagac	0.398000													3	28					0	0	0.115264	0	0
BRDT	676	broad.mit.edu	37	1	92441875	92441875	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:92441875C>A	ENST00000370389.2	+	5	1203	c.279C>A	c.(277-279)agC>agA	p.S93R	BRDT_ENST00000399546.2_Missense_Mutation_p.S166R|BRDT_ENST00000394530.3_Missense_Mutation_p.S120R|BRDT_ENST00000362005.3_Missense_Mutation_p.S166R|BRDT_ENST00000402388.1_Missense_Mutation_p.S166R	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	166	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CATCACCCAGCGCAACAGAAA	0.373000													6	75					0.00116845	0.00136997	0.217242	1	0
LAMA2	3908	broad.mit.edu	37	6	129419545	129419545	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:129419545C>T	ENST00000421865.2	+	4	673	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	208	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGATACACCCCTTAGAAAATG	0.403000													7	94					0	0	0.307466	0	0
CHMP6	79643	broad.mit.edu	37	17	78972164	78972164	+	Splice_Site	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:78972164A>G	ENST00000325167.5	+	7	573		c.e7-1			NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6						cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGCTTCTTGCAGGAACAAATA	0.557000													12	178					0	0	0.500413	0	0
SETX	23064	broad.mit.edu	37	9	135163713	135163713	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:135163713C>A	ENST00000372169.2	-	17	6416	c.6234G>T	c.(6232-6234)caG>caT	p.Q2078H	SETX_ENST00000393220.1_Missense_Mutation_p.Q2078H|SETX_ENST00000224140.5_Missense_Mutation_p.Q2078H			Q7Z333	SETX_HUMAN	senataxin	2078				Q -> L (in Ref. 2; CAD97857).	cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TATGCATCGCCTGAACATGAG	0.363000													7	54					5.18039e-06	7.25255e-06	0.278610	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88953756	88953756	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:88953756T>C	ENST00000375961.2	-	9	1531	c.1317A>G	c.(1315-1317)gcA>gcG	p.A439A	ZCCHC6_ENST00000375963.3_Silent_p.A439A|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_Silent_p.A77A|ZCCHC6_ENST00000375960.2_Intron			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	439					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGTACCTAAATGCAATCACCA	0.368000													9	100					0	0	0.335167	0	0
XPO6	23214	broad.mit.edu	37	16	28157507	28157507	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:28157507G>A	ENST00000304658.5	-	9	1742	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	XPO6_ENST00000565698.1_Silent_p.Y400Y	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	414					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AACAAGAGAAGTAACCTTCAT	0.363000													15	85					0	0	0.520397	0	0
MYH13	8735	broad.mit.edu	37	17	10253903	10253903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:10253903C>A	ENST00000418404.3	-	11	1277	c.1114G>T	c.(1114-1116)Gag>Tag	p.E372*	MYH13_ENST00000252172.4_Nonsense_Mutation_p.E372*|MYH13_ENST00000570743.1_Nonsense_Mutation_p.E372*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	372	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTGCTCCTCACGCTGCTTC	0.552000													11	133					0.38729	0.396832	0.387290	1	0
OR4C6	219432	broad.mit.edu	37	11	55433292	55433292	+	Missense_Mutation	SNP	C	C	A	rs150924885	byFrequency	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:55433292C>A	ENST00000314259.3	+	1	679	c.650C>A	c.(649-651)aCg>aAg	p.T217K		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GCGTCCTACACGGTCATCCTA	0.517000													12	123					7.03913e-09	1.14144e-08	0.411799	1	0
ACSL4	2182	broad.mit.edu	37	X	108926435	108926435	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:108926435T>C	ENST00000340800.2	-	4	785	c.281A>G	c.(280-282)gAc>gGc	p.D94G	ACSL4_ENST00000469796.2_Missense_Mutation_p.D94G|ACSL4_ENST00000348502.6_Missense_Mutation_p.D53G	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	94					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CCCAAGGCTGTCCTTCTTCCC	0.393000													11	159					0	0	0.479597	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102522037	102522037	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:102522037C>G	ENST00000321521.9	+	27	3759	c.3186C>G	c.(3184-3186)ggC>ggG	p.G1062G	PPIP5K2_ENST00000358359.3_Silent_p.G1062G|PPIP5K2_ENST00000414217.1_Silent_p.G1062G|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1062					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTGTGCGGGCCTGTTTAGCA	0.488000													4	38					0	0	0.184627	0	0
FLG2	388698	broad.mit.edu	37	1	152324197	152324197	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:152324197G>A	ENST00000388718.5	-	3	6137	c.6065C>T	c.(6064-6066)aCa>aTa	p.T2022I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2022							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCAGTTGTCCTGGACCC	0.537000													59	605					0	0	0.870114	0	0
IFNGR2	3460	broad.mit.edu	37	21	34799249	34799249	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:34799249C>T	ENST00000290219.6	+	4	1119	c.471C>T	c.(469-471)atC>atT	p.I157I	IFNGR2_ENST00000405436.1_Silent_p.I78I|IFNGR2_ENST00000381995.1_Silent_p.I176I	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	157	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CCCTCATCATCAGGTTCTCCT	0.453000													33	326					0	0	0.827153	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922658	43922658	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:43922658G>C	ENST00000329196.5	+	1	403	c.386G>C	c.(385-387)tGc>tCc	p.C129S	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	129						integral to membrane	aspartic-type endopeptidase activity										GACCAACAGTGCTCAGACACC	0.627000													5	65					0	0	0.248553	0	0
OR7C2	26658	broad.mit.edu	37	19	15052664	15052664	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:15052664C>A	ENST00000248072.3	+	1	364	c.364C>A	c.(364-366)Cgc>Agc	p.R122S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	122			R -> H (in dbSNP:rs11883178).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GGCCTATGACCGCTTCGTGGC	0.517000													4	76					0.0215528	0.0232284	0.217242	1	0
MIR498	574460	broad.mit.edu	37	19	54177560	54177560	+	RNA	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:54177560T>A	ENST00000385134.1	+	0	110					NR_030182.1																						TTGAGAGCAATCGTCTAAGGA	0.418000													7	90					0	0	0.307466	0	0
DDX18	8886	broad.mit.edu	37	2	118575267	118575267	+	Missense_Mutation	SNP	G	G	T	rs146134367		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:118575267G>T	ENST00000263239.2	+	2	461	c.333G>T	c.(331-333)aaG>aaT	p.K111N	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	111	Poly-Lys.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAAGAAAAAGAAGAAAAAGA	0.353000													17	110					1.56452e-12	2.9418e-12	0.557998	1	0
TRIM37	4591	broad.mit.edu	37	17	57165660	57165660	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:57165660T>C	ENST00000262294.7	-	4	532	c.273A>G	c.(271-273)gaA>gaG	p.E91E	TRIM37_ENST00000393065.2_Silent_p.E57E|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000393066.3_Silent_p.E91E|TRIM37_ENST00000584889.1_Silent_p.E91E	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	91						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACTTGTCCTTTTCATTTTCTT	0.348000									Mulibrey Nanism				3	30					0	0	0.115264	0	0
HEXA	3073	broad.mit.edu	37	15	72638868	72638868	+	Splice_Site	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:72638868C>T	ENST00000268097.5	-	11	1833	c.1330_splice	c.e11+1	p.G444_splice	HEXA_ENST00000566304.1_Splice_Site_p.G455_splice|HEXA_ENST00000429918.2_Splice_Site_p.G271_splice|HEXA_ENST00000567159.1_Splice_Site_p.G444_splice|HEXA_ENST00000457859.2_Intron|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	444					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CTGCTTTCACCTTCAAATGCC	0.547000													23	151					0	0	0.681144	0	0
LRP1B	53353	broad.mit.edu	37	2	141459305	141459305	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:141459305G>T	ENST00000389484.3	-	40	7383	c.6412C>A	c.(6412-6414)Cga>Aga	p.R2138R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2138					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCTTACTCGGTTAAATATT	0.368000										TSP Lung(27;0.18)			10	98					0.000673444	0.000811116	0.361761	1	0
SCARF2	91179	broad.mit.edu	37	22	20783898	20783898	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr22:20783898A>T	ENST00000405555.3	-	8	1419	c.1349T>A	c.(1348-1350)cTc>cAc	p.L450H	SCARF2_ENST00000266214.5_Missense_Mutation_p.L450H	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	450					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGCAGGACGAGCAGCGCGCC	0.667000													6	62					0	0	0.307466	0	0
SHANK2	22941	broad.mit.edu	37	11	70331663	70331663	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:70331663G>A	ENST00000338508.4	-	32	4737	c.4738C>T	c.(4738-4740)Ccg>Tcg	p.P1580S	SHANK2_ENST00000423696.2_Missense_Mutation_p.P1200S|SHANK2_ENST00000449833.2_Missense_Mutation_p.P984S|SHANK2_ENST00000409161.1_Missense_Mutation_p.P983S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1200					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ggagcgggcggggggATAACA	0.562000													9	194					0	0	0.307466	0	0
PKHD1	5314	broad.mit.edu	37	6	51947219	51947219	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:51947219C>A	ENST00000371117.3	-	4	527	c.252G>T	c.(250-252)ttG>ttT	p.L84F	PKHD1_ENST00000340994.4_Missense_Mutation_p.L84F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	84	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGGCAAATCCAAGAAAACAG	0.498000													14	304					2.32078e-09	3.89737e-09	0.479597	1	0
PLG	5340	broad.mit.edu	37	6	161134090	161134090	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:161134090G>T	ENST00000308192.9	+	5	543	c.480G>T	c.(478-480)caG>caT	p.Q160H	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	160	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACGATCCGCAGGGGCCCTGGT	0.483000													14	252					6.94344e-10	1.1829e-09	0.539581	1	0
DLK1	8788	broad.mit.edu	37	14	101200828	101200828	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:101200828G>T	ENST00000341267.4	+	5	989	c.747G>T	c.(745-747)gcG>gcT	p.A249A	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGAAGCGCGCGCTGAGCCCCC	0.682000													4	110					4.096e-09	6.79782e-09	0.217242	1	0
RNF17	56163	broad.mit.edu	37	13	25376579	25376579	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:25376579G>T	ENST00000255324.5	+	14	1871	c.1819G>T	c.(1819-1821)Gtt>Ttt	p.V607F	RNF17_ENST00000381921.1_Missense_Mutation_p.V607F|RNF17_ENST00000255325.5_Missense_Mutation_p.V608F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	607					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAACAAGGCTGTTTCAATGAA	0.348000													9	103					0.0477658	0.0503284	0.307466	1	0
COL4A4	1286	broad.mit.edu	37	2	228004956	228004956	+	Splice_Site	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:228004956T>C	ENST00000396625.3	-	4	322		c.e4-2		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTTTCCACTCTGGAAAGTGAA	0.408000													4	68					0	0	0.184627	0	0
DDX26B	203522	broad.mit.edu	37	X	134654922	134654922	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:134654922C>A	ENST00000370752.4	+	1	339	c.5C>A	c.(4-6)cCc>cAc	p.P2H	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	2										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAAGATGCCCATCCTGCTG	0.612000													9	304					3.86212e-05	5.10377e-05	0.361761	1	0
NPAP1	23742	broad.mit.edu	37	15	24922256	24922256	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:24922256C>G	ENST00000329468.2	+	1	1716	c.1242C>G	c.(1240-1242)acC>acG	p.T414T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCCCCTGACCACTTACACTT	0.562000													10	92					0	0	0.361761	0	0
MMRN1	22915	broad.mit.edu	37	4	90872782	90872782	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:90872782C>G	ENST00000394980.1	+	8	3464	c.3145C>G	c.(3145-3147)Ccg>Gcg	p.P1049A	MMRN1_ENST00000508372.1_Missense_Mutation_p.P791A|MMRN1_ENST00000394981.1_Missense_Mutation_p.P352A|MMRN1_ENST00000264790.2_Missense_Mutation_p.P1049A			Q13201	MMRN1_HUMAN	multimerin 1	1049	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TAGTCGGCATCCGTGCCAAAA	0.428000													4	61					0	0	0.184627	0	0
TMEM215	401498	broad.mit.edu	37	9	32784185	32784185	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:32784185C>A	ENST00000342743.5	+	2	369	c.4C>A	c.(4-6)Cgg>Agg	p.R2R		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	2						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GTGAAACATGCGGCCTGATGA	0.527000													21	87					1.64293e-13	3.18234e-13	0.654019	1	0
GIMAP6	474344	broad.mit.edu	37	7	150325008	150325008	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:150325008G>T	ENST00000328902.5	-	3	894	c.678C>A	c.(676-678)aaC>aaA	p.N226K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	226							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATCTCCTTCGTTTTCCCACA	0.517000													5	247					2.0095e-06	2.88763e-06	0.248553	1	0
ABCC11	85320	broad.mit.edu	37	16	48204029	48204029	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:48204029A>G	ENST00000394747.1	-	27	4227	c.3878T>C	c.(3877-3879)cTt>cCt	p.L1293P	ABCC11_ENST00000394748.1_Missense_Mutation_p.L1293P|ABCC11_ENST00000353782.5_Intron|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.L1293P	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1293	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGAGTTGCGAAGCACAGCCCT	0.572000													13	190					0	0	0.411799	0	0
TTYH1	57348	broad.mit.edu	37	19	54932505	54932505	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:54932505C>G	ENST00000301194.4	+	3	482	c.360C>G	c.(358-360)tcC>tcG	p.S120S	TTYH1_ENST00000391739.3_Silent_p.S169S|TTYH1_ENST00000376530.3_Silent_p.S120S|TTYH1_ENST00000376531.3_Silent_p.S120S			Q9H313	TTYH1_HUMAN	tweety family member 1	120					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		ATGGGGTGTCCCAGCTCAGCT	0.622000													17	125					0	0	0.592651	0	0
CDK9	1025	broad.mit.edu	37	9	130551528	130551528	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:130551528G>T	ENST00000373265.2	+	7	1176	c.1176G>T	c.(1174-1176)gtG>gtT	p.V392V	CDK9_ENST00000373264.4_Silent_p.V275V			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	275					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						AGCGGAAGGTGAAGGACAGGC	0.587000													6	81					5.18039e-06	7.25255e-06	0.278610	1	0
OR8D1	283159	broad.mit.edu	37	11	124180490	124180490	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:124180490G>A	ENST00000357821.2	-	1	243	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATAGTACATGGGGGTGTGAAG	0.488000													6	137					0	0	0.248553	0	0
CALCRL	10203	broad.mit.edu	37	2	188210985	188210985	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:188210985T>C	ENST00000409998.1	-	16	2093	c.1312A>G	c.(1312-1314)Agt>Ggt	p.S438G	CALCRL_ENST00000392370.3_Missense_Mutation_p.S438G|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.S438G			Q16602	CALRL_HUMAN	calcitonin receptor-like	438						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AAGTGTTCACTAGGACAGTCA	0.363000													13	60					0	0	0.457914	0	0
RYR1	6261	broad.mit.edu	37	19	38948887	38948887	+	Missense_Mutation	SNP	G	G	T	rs138874610		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:38948887G>T	ENST00000355481.4	+	18	2253	c.2122G>T	c.(2122-2124)Gat>Tat	p.D708Y	RYR1_ENST00000360985.3_Missense_Mutation_p.D708Y|RYR1_ENST00000359596.3_Missense_Mutation_p.D708Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	708	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGGGTCGGCGATGACCTCTA	0.657000													9	204					1.12685e-05	1.55299e-05	0.307466	1	0
CORIN	10699	broad.mit.edu	37	4	47625718	47625718	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:47625718C>T	ENST00000273857.4	-	19	2409	c.2410G>A	c.(2410-2412)Gga>Aga	p.G804R	CORIN_ENST00000505909.1_Missense_Mutation_p.G767R|CORIN_ENST00000508498.1_Missense_Mutation_p.G665R|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Missense_Mutation_p.G737R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	804	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTCCGACCTCCAAGGATCCTT	0.542000													6	168					0	0	0.307466	0	0
NR2F1	7025	broad.mit.edu	37	5	92929327	92929327	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:92929327G>T	ENST00000327111.3	+	3	2738	c.1051G>T	c.(1051-1053)Gca>Tca	p.A351S	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	351					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GTCGCAGTGCGCACTGGAGGA	0.647000													8	116					0.000157383	0.000198342	0.278610	1	0
PTX4	390667	broad.mit.edu	37	16	1536356	1536356	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:1536356C>A	ENST00000447419.2	-	3	1046	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	PTX4_ENST00000440447.2_Silent_p.S192S|PTX4_ENST00000293922.1_Missense_Mutation_p.V336L			Q96A99	PTX4_HUMAN	pentraxin 4, long	341	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCCCCGATCACGAAGTGGATG	0.657000													7	80					0.000978159	0.00117213	0.387290	1	0
HDAC9	9734	broad.mit.edu	37	7	18705981	18705981	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:18705981T>A	ENST00000406451.3	+	12	1754	c.1604T>A	c.(1603-1605)gTg>gAg	p.V535E	HDAC9_ENST00000432645.2_Missense_Mutation_p.V535E|HDAC9_ENST00000524023.1_Missense_Mutation_p.V458E|HDAC9_ENST00000401921.1_Missense_Mutation_p.V494E|HDAC9_ENST00000456174.2_Missense_Mutation_p.V507E|HDAC9_ENST00000405010.3_Missense_Mutation_p.V535E|HDAC9_ENST00000428307.2_Missense_Mutation_p.V491E|HDAC9_ENST00000417496.2_Missense_Mutation_p.V533E|HDAC9_ENST00000441542.2_Missense_Mutation_p.V538E|HDAC9_ENST00000406072.1_Missense_Mutation_p.V522E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	535					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGTGCTTGTGTGGATGACACA	0.557000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	68					0	0	0.307466	0	0
WDR86	349136	broad.mit.edu	37	7	151093186	151093186	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:151093186C>A	ENST00000334493.6	-	3	832	c.402G>T	c.(400-402)cgG>cgT	p.R134R	WDR86_ENST00000469830.2_Silent_p.R134R|WDR86_ENST00000477459.1_Silent_p.R6R	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	134										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCGGTGGCCCCGGAACTCCC	0.672000													7	62					0.0381472	0.0402539	0.278610	1	0
RUFY4	285180	broad.mit.edu	37	2	218954038	218954038	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:218954038G>T	ENST00000374155.3	+	11	2036	c.1626G>T	c.(1624-1626)gtG>gtT	p.V542V	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Silent_p.V522V			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	522							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGTGCTGTGTGGCCTGTAGCA	0.577000													6	48					0.0381472	0.0402539	0.278610	1	0
CEACAM21	90273	broad.mit.edu	37	19	42082628	42082628	+	Translation_Start_Site	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:42082628T>A	ENST00000187608.9	+	1	42	c.2T>A	c.(1-3)aTg>aAg	p.M1K	CEACAM21_ENST00000401445.2_Start_Codon_SNP_p.M1K|CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000407170.2_Intron	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	1						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCAGAGACCATGGGGCCCCCC	0.622000													5	65					0	0	0.217242	0	0
DAO	1610	broad.mit.edu	37	12	109288126	109288126	+	Missense_Mutation	SNP	C	C	T	rs139166976	byFrequency	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:109288126C>T	ENST00000228476.3	+	7	799	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	DAO_ENST00000551281.1_Missense_Mutation_p.R133W	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	199					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	p.R199W(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GCAGCCAGGCCGGGGGCAGAT	0.542000													4	37					0	0	0.150653	0	0
BAGE2	85319	broad.mit.edu	37	21	11047577	11047577	+	RNA	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:11047577G>C	ENST00000470054.1	-	0	677									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTAGCATCTTGCTATCTTCTC	0.348000													12	844					0	0	0.479597	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786363	128786363	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:128786363T>A	ENST00000529694.1	+	3	1373	c.997T>A	c.(997-999)Ttc>Atc	p.F333I	KCNJ5_ENST00000533599.1_Missense_Mutation_p.F333I|KCNJ5_ENST00000338350.4_Missense_Mutation_p.F333I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	333					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGGCCACCGATTCACACCAGT	0.527000													11	189					0	0	0.457914	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668546	176668546	+	Silent	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:176668546G>C	ENST00000367662.3	+	8	4221	c.3057G>C	c.(3055-3057)ggG>ggC	p.G1019G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1019					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGGTGTCGGGGGTGAAAGTCT	0.537000													12	196					0	0	0.411799	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329189	23329189	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:23329189G>T	ENST00000597761.2	+	4	1542	c.1343G>T	c.(1342-1344)gGa>gTa	p.G448V		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATTCATACTGGAGAGAAACCC	0.388000													6	71					0.000157383	0.000198342	0.278610	1	0
CYTH4	27128	broad.mit.edu	37	22	37699442	37699442	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr22:37699442G>T	ENST00000248901.6	+	8	882	c.696_splice	c.e8+1	p.R232_splice		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	232	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACCAGCTGCGGGTGAGAGAG	0.642000													3	63					0.00024832	0.000311281	0.150653	1	0
LHX8	431707	broad.mit.edu	37	1	75626543	75626543	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:75626543C>G	ENST00000294638.5	+	10	1698	c.1034C>G	c.(1033-1035)cCc>cGc	p.P345R	LHX8_ENST00000356261.3_Missense_Mutation_p.P335R	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	345						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCCTTGTTACCCCATTCAATG	0.323000													16	225					0	0	0.592651	0	0
SEC22A	26984	broad.mit.edu	37	3	122944080	122944080	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:122944080G>T	ENST00000309934.4	+	3	1373	c.477G>T	c.(475-477)ggG>ggT	p.G159G	SEC22A_ENST00000492595.1_Silent_p.G159G|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	159					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GCGAACTGGGGTCAGCCAATG	0.388000													17	211					6.33239e-15	1.24707e-14	0.592651	1	0
ATP4A	495	broad.mit.edu	37	19	36051397	36051397	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:36051397C>G	ENST00000262623.3	-	6	683	c.655G>C	c.(655-657)Gcc>Ccc	p.A219P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	219					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CAGCCCTGGGCCGCCAGGATG	0.632000													10	110					0	0	0.387290	0	0
MED16	10025	broad.mit.edu	37	19	884906	884906	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:884906C>A	ENST00000312090.6	-	6	1132	c.982G>T	c.(982-984)Gtg>Ttg	p.V328L	MED16_ENST00000589119.1_Missense_Mutation_p.V328L|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.V328L|MED16_ENST00000325464.1_Missense_Mutation_p.V328L|MED16_ENST00000395808.3_Missense_Mutation_p.V328L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	328					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCACCCACGGGGGAGATC	0.642000													4	25					0.150653	0.156866	0.150653	1	0
ZNF536	9745	broad.mit.edu	37	19	30936083	30936083	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:30936083G>C	ENST00000355537.3	+	2	1761	c.1614G>C	c.(1612-1614)ttG>ttC	p.L538F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGGCTTCTTGTCTAAAGAGC	0.592000													8	111					0	0	0.361761	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379900	138379900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:138379900G>T	ENST00000356818.2	+	4	4093	c.3544G>T	c.(3544-3546)Gag>Tag	p.E1182*	PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.E1182*|PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.E1182*|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.E1182*|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.E1182*	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	1182						nucleolus	protein binding										GGATGACCAGGAGCAGGACGC	0.597000													4	53					0.00909568	0.0100636	0.150653	1	0
DOPEY2	9980	broad.mit.edu	37	21	37609570	37609570	+	Missense_Mutation	SNP	G	G	T	rs140431407		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:37609570G>T	ENST00000399151.3	+	16	2718	c.2633G>T	c.(2632-2634)cGt>cTt	p.R878L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	878					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGGTGGCTCGTGTGCTTTGG	0.592000													12	114					4.36969e-10	7.53505e-10	0.435327	1	0
NTSR1	4923	broad.mit.edu	37	20	61340904	61340904	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:61340904C>A	ENST00000370501.3	+	1	716	c.345C>A	c.(343-345)acC>acA	p.T115T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	115						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACCTGCTCACCCTGCTGCTGG	0.677000													9	77					0.000673444	0.000811116	0.361761	1	0
PXDNL	137902	broad.mit.edu	37	8	52321665	52321665	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:52321665G>T	ENST00000356297.4	-	17	2619	c.2519C>A	c.(2518-2520)cCt>cAt	p.P840H	PXDNL_ENST00000543296.1_Missense_Mutation_p.P840H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	840					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAAACAAGGAGGGTCGTTGGT	0.692000													4	46					3.59834e-05	4.80912e-05	0.217242	1	0
ATG4C	84938	broad.mit.edu	37	1	63294775	63294775	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:63294775A>T	ENST00000317868.4	+	7	1068	c.861A>T	c.(859-861)aaA>aaT	p.K287N	ATG4C_ENST00000371120.3_Missense_Mutation_p.K287N	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	287					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						CAGATGACAAAGCTGTTATTA	0.313000													8	102					0	0	0.307466	0	0
CALN1	83698	broad.mit.edu	37	7	71252835	71252835	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:71252835G>T	ENST00000395275.2	-	7	1099	c.711C>A	c.(709-711)tgC>tgA	p.C237*	CALN1_ENST00000431984.1_Nonsense_Mutation_p.C195*|CALN1_ENST00000395276.2_Nonsense_Mutation_p.C195*|CALN1_ENST00000412588.1_Nonsense_Mutation_p.C237*|CALN1_ENST00000405452.2_Nonsense_Mutation_p.C195*|CALN1_ENST00000329008.5_Nonsense_Mutation_p.C195*	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	195						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TAGCAAAGGCGCATATGAGGC	0.572000													7	87					0.0293803	0.0312359	0.248553	1	0
KLHL15	80311	broad.mit.edu	37	X	24006586	24006586	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:24006586C>A	ENST00000328046.8	-	4	1522	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	423										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TTATTGAGCACTGTCCCCTCA	0.423000													6	167					0.0381472	0.0402539	0.278610	1	0
CACNG6	59285	broad.mit.edu	37	19	54515431	54515431	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:54515431C>A	ENST00000252729.2	+	4	1361	c.771C>A	c.(769-771)caC>caA	p.H257Q	CACNG6_ENST00000346968.2_Missense_Mutation_p.H211Q|CACNG6_ENST00000352529.1_Missense_Mutation_p.H186Q	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	257						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AGCGGGGGCACCGGGCCACCT	0.632000													28	162					8.69298e-16	1.746e-15	0.827153	1	0
GID4	79018	broad.mit.edu	37	17	17962227	17962227	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:17962227G>A	ENST00000268719.4	+	4	825	c.652G>A	c.(652-654)Gat>Aat	p.D218N		NM_024052.4	NP_076957.3			GID complex subunit 4																		ATTTAACTCAGATGACTTTGA	0.473000													8	51					0	0	0.307466	0	0
TACC2	10579	broad.mit.edu	37	10	123903112	123903112	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:123903112G>C	ENST00000369005.1	+	7	6065	c.5725G>C	c.(5725-5727)Ggt>Cgt	p.G1909R	TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.G1909R|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1909						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCCATGCGGGTCTTCCTCC	0.572000											OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	222					0	0	0.557998	0	0
RPN2	6185	broad.mit.edu	37	20	35826807	35826807	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:35826807G>A	ENST00000237530.6	+	3	526	c.215G>A	c.(214-216)tGt>tAt	p.C72Y	RPN2_ENST00000373622.5_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	72					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TAGAAAGCATGTACCTACATC	0.478000													14	146					0	0	0.457914	0	0
PTPRK	5796	broad.mit.edu	37	6	128297928	128297928	+	Splice_Site	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:128297928C>G	ENST00000368227.3	-	28	4261		c.e28-1		PTPRK_ENST00000368213.5_Splice_Site|PTPRK_ENST00000368207.3_Splice_Site|PTPRK_ENST00000368210.3_Splice_Site|PTPRK_ENST00000368226.4_Splice_Site|PTPRK_ENST00000368215.3_Splice_Site|PTPRK_ENST00000532331.1_Splice_Site			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GAGGGCAGCCCTAAATGATGA	0.383000													7	68					0	0	0.278610	0	0
THSD1	55901	broad.mit.edu	37	13	52952524	52952524	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:52952524C>T	ENST00000349258.4	-	4	1966	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	THSD1_ENST00000544466.1_Silent_p.L148L|THSD1_ENST00000258613.4_Silent_p.L527L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	527						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGTAGCTGAACAGAGGTGGGA	0.557000													13	203					0	0	0.500413	0	0
PTDSS1	9791	broad.mit.edu	37	8	97332499	97332499	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:97332499G>T	ENST00000517309.1	+	10	1425	c.1099G>T	c.(1099-1101)Gtt>Ttt	p.V367F	PTDSS1_ENST00000455950.2_Missense_Mutation_p.V221F|PTDSS1_ENST00000522072.1_Missense_Mutation_p.V164F	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	367					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GGAGGCCATTGTTTGCATAAA	0.388000													30	222					3.33393e-15	6.62104e-15	0.804634	1	0
DYNC2LI1	51626	broad.mit.edu	37	2	44036905	44036905	+	Nonstop_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:44036905G>T	ENST00000260605.8	+	13	1155	c.1055G>T	c.(1054-1056)tGa>tTa	p.*352L	DYNC2LI1_ENST00000605786.1_Nonstop_Mutation_p.*353L|DYNC2LI1_ENST00000443170.3_Nonstop_Mutation_p.*226L	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	0						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTGATTCTTGAACCTATTTC	0.274000													5	34					0.00198382	0.00229928	0.248553	1	0
F9	2158	broad.mit.edu	37	X	138644086	138644086	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:138644086C>G	ENST00000218099.2	+	8	1249	c.1242C>G	c.(1240-1242)ccC>ccG	p.P414P	F9_ENST00000394090.2_Silent_p.P376P	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	414	Peptidase S1.		P -> T (in HEMB; Bergamo).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GTGGGGGACCCCATGTTACTG	0.423000													7	156					0	0	0.307466	0	0
KIF2B	84643	broad.mit.edu	37	17	51901880	51901880	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:51901880G>A	ENST00000268919.4	+	1	1642	c.1486G>A	c.(1486-1488)Gcc>Acc	p.A496T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	496					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCATTCAGAGCCAGCAAACT	0.502000													8	48					0	0	0.307466	0	0
OR5L2	26338	broad.mit.edu	37	11	55594868	55594868	+	Silent	SNP	C	C	T	rs150337368		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:55594868C>T	ENST00000378397.1	+	1	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58>?(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCACACCCCCGTGTACTTTT	0.468000										HNSCC(27;0.073)			42	327					0	0	0.870114	0	0
OR2F1	26211	broad.mit.edu	37	7	143657110	143657110	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:143657110G>T	ENST00000392899.1	+	1	84	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATTCTCCTCGGCCTGTCCAGT	0.453000													18	255					4.16121e-05	5.48876e-05	0.639603	1	0
PHACTR1	221692	broad.mit.edu	37	6	13230268	13230268	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:13230268G>T	ENST00000379350.1	+	9	1363		c.e9-1		PHACTR1_ENST00000332995.7_Splice_Site|PHACTR1_ENST00000457702.2_Splice_Site|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1							cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GTCTCCTACAGGCTCCCTGGC	0.522000													3	21					0.00909568	0.0100636	0.150653	1	0
PLCXD3	345557	broad.mit.edu	37	5	41382400	41382400	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:41382400G>T	ENST00000377801.3	-	2	414	c.340C>A	c.(340-342)Cat>Aat	p.H114N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.H114N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	114	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACAAACCATGAGCAAAATAG	0.438000													17	145					1.00905e-13	1.95988e-13	0.575678	1	0
SMIM21	284274	broad.mit.edu	37	18	73130832	73130832	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr18:73130832C>A	ENST00000584508.1	-	2	287	c.169G>T	c.(169-171)Gtt>Ttt	p.V57F	SMIM21_ENST00000579022.1_Missense_Mutation_p.V57F|RP11-321M21.3_ENST00000579386.1_3'UTR|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000578340.1_Missense_Mutation_p.P76T					small integral membrane protein 21																		TGGAAAAGAACCAACAATGTG	0.373000													20	122					6.44725e-10	1.10636e-09	0.624587	1	0
FSTL5	56884	broad.mit.edu	37	4	162459402	162459402	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:162459402C>A	ENST00000306100.5	-	10	1664	c.1228G>T	c.(1228-1230)Gca>Tca	p.A410S	FSTL5_ENST00000427802.2_Missense_Mutation_p.A409S|FSTL5_ENST00000536695.1_Missense_Mutation_p.A409S|FSTL5_ENST00000379164.4_Missense_Mutation_p.A409S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	410	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAAGTGTATGCTCCAGTATCT	0.403000													12	242					0.0242445	0.0260896	0.479597	1	0
ZBTB44	29068	broad.mit.edu	37	11	130131117	130131117	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:130131117T>C	ENST00000525842.1	-	2	1019	c.652A>G	c.(652-654)Aga>Gga	p.R218G	ZBTB44_ENST00000397753.1_Missense_Mutation_p.R218G|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R218G|ZBTB44_ENST00000357899.4_Missense_Mutation_p.R218G	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GGTTGGTTTCTATTTTCTGAG	0.403000													4	57					0	0	0.248553	0	0
RP1L1	94137	broad.mit.edu	37	8	10466209	10466209	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:10466209C>A	ENST00000382483.3	-	4	5622	c.5399G>T	c.(5398-5400)aGg>aTg	p.R1800M		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1800					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGTTTCTCCCCTTTCACTTAT	0.577000													28	335					2.70662e-09	4.52383e-09	0.740014	1	0
IFT172	26160	broad.mit.edu	37	2	27700895	27700895	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:27700895C>A	ENST00000260570.3	-	11	1237	c.1134G>T	c.(1132-1134)ctG>ctT	p.L378L	IFT172_ENST00000416524.2_Silent_p.L357L|IFT172_ENST00000359466.6_Silent_p.L378L	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	378					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGTCCCCCAGCAGCAGTGTTT	0.498000													38	270					6.42738e-09	1.05189e-08	0.870114	1	0
LAYN	143903	broad.mit.edu	37	11	111414665	111414665	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:111414665G>A	ENST00000375614.2	+	2	439	c.103G>A	c.(103-105)Gga>Aga	p.G35R	LAYN_ENST00000533265.1_Missense_Mutation_p.G35R|LAYN_ENST00000525126.1_Missense_Mutation_p.G43R|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000436913.2_5'UTR|LAYN_ENST00000375615.3_Missense_Mutation_p.G43R	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	43						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AGTCTGCCGGGGAGGGACACA	0.488000													4	96					0	0	0.217242	0	0
SALL1	6299	broad.mit.edu	37	16	51175560	51175560	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:51175560G>T	ENST00000440970.1	-	2	713	c.282C>A	c.(280-282)atC>atA	p.I94I	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.I191I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	191					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGTTGCTGTTGATTACGGAGA	0.632000													8	110					3.09899e-07	4.72194e-07	0.307466	1	0
EPAS1	2034	broad.mit.edu	37	2	46611659	46611659	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:46611659C>T	ENST00000263734.3	+	16	2983	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	825					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CATGGCAAGCCGGCTGCTCGG	0.522000													11	261					0	0	0.500413	0	0
SI	6476	broad.mit.edu	37	3	164741565	164741565	+	Splice_Site	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:164741565C>A	ENST00000264382.3	-	26	2955		c.e26-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAGAAGAACCCTAAAAACACA	0.353000										HNSCC(35;0.089)			9	58					0.000978159	0.00117213	0.387290	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17373510	17373510	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:17373510A>G	ENST00000377602.4	-	5	493	c.419T>C	c.(418-420)gTt>gCt	p.V140A		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	140					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CTGAGAAACAACAAAGTTTTG	0.363000													13	55					0	0	0.557998	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511711	44511711	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:44511711G>T	ENST00000372523.1	+	2	575	c.480G>T	c.(478-480)gaG>gaT	p.E160D	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.E160D	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	160							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TAGCTATGGAGTTCCCCACAG	0.502000													4	123					3.59834e-05	4.80912e-05	0.217242	1	0
PRDM13	59336	broad.mit.edu	37	6	100060974	100060974	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:100060974C>A	ENST00000369214.1	+	4	754	c.493C>A	c.(493-495)Cac>Aac	p.H165N	PRDM13_ENST00000369215.4_Missense_Mutation_p.H155N	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CCTTAAGGCACACCTGCGTTT	0.627000													7	57					2.52707e-12	4.68934e-12	0.335167	1	0
ITGA9	3680	broad.mit.edu	37	3	37583978	37583978	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:37583978T>C	ENST00000264741.5	+	15	1847	c.1591T>C	c.(1591-1593)Tac>Cac	p.Y531H	ITGA9_ENST00000422441.1_Missense_Mutation_p.Y531H	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	531					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCCCAGGGTCTACTTTGTGCT	0.517000													6	66					0	0	0.307466	0	0
GABRA6	2559	broad.mit.edu	37	5	161116322	161116322	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:161116322G>T	ENST00000523217.1	+	5	721	c.479G>T	c.(478-480)tGt>tTt	p.C160F	GABRA6_ENST00000274545.5_Missense_Mutation_p.C170F|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	170					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGGCATGCTTGTCCACTCAAG	0.383000										TCGA Ovarian(5;0.080)			10	116					0.00136819	0.00160151	0.411799	1	0
ARHGAP12	94134	broad.mit.edu	37	10	32096669	32096669	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:32096669C>A	ENST00000375250.5	-	18	2609	c.2368G>T	c.(2368-2370)Ggt>Tgt	p.G790C	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.G768C|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.G820C|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.G768C|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.G815C	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	820	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GCTATATTACCAGTCTCTTTT	0.363000													8	72					0.00621372	0.00698426	0.335167	1	0
NR4A2	4929	broad.mit.edu	37	2	157186542	157186542	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:157186542C>T	ENST00000339562.4	-	3	519	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	NR4A2_ENST00000539077.1_Missense_Mutation_p.A64T|NR4A2_ENST00000409572.1_Missense_Mutation_p.A53T|NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Missense_Mutation_p.A53T	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	53					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GAAGTGGTGGCAGTGATTTCA	0.493000													5	83					0	0	0.184627	0	0
RALGDS	5900	broad.mit.edu	37	9	135982518	135982518	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:135982518G>A	ENST00000393160.3	-	7	1555	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	RALGDS_ENST00000393157.3_Missense_Mutation_p.A455V|RALGDS_ENST00000372062.3_Missense_Mutation_p.A427V|RALGDS_ENST00000372047.3_Missense_Mutation_p.A444V|RALGDS_ENST00000542690.1_Missense_Mutation_p.A527V|RALGDS_ENST00000372050.3_Missense_Mutation_p.A456V|RALGDS_ENST00000469972.1_5'UTR	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	456	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCTGTCTGGGGCTTTCGTGCT	0.627000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								7	149					0	0	0.361761	0	0
PTPRD	5789	broad.mit.edu	37	9	8499760	8499760	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:8499760G>T	ENST00000381196.4	-	22	2752	c.2209C>A	c.(2209-2211)Ccc>Acc	p.P737T	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.P737T|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.P737T|PTPRD_ENST00000360074.4_Missense_Mutation_p.P724T|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.P724T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	737	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTTTATTGGGCACGGGTGAG	0.493000										TSP Lung(15;0.13)			10	180					0.00829132	0.00928996	0.361761	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885345	88885345	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:88885345C>G	ENST00000319675.3	-	1	951	c.855G>C	c.(853-855)ctG>ctC	p.L285L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	285										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTGATGACACCAGGAATTGGC	0.498000													10	82					0	0	0.361761	0	0
DZIP3	9666	broad.mit.edu	37	3	108366907	108366907	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:108366907G>T	ENST00000361582.3	+	16	2140	c.1910G>T	c.(1909-1911)gGg>gTg	p.G637V	DZIP3_ENST00000463306.1_Missense_Mutation_p.G637V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	637					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AATAAAGATGGGACCTCAATA	0.363000													12	166					4.7546e-09	7.87238e-09	0.500413	1	0
MAEL	84944	broad.mit.edu	37	1	166987187	166987187	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:166987187G>T	ENST00000367872.4	+	10	1276	c.1032G>T	c.(1030-1032)ggG>ggT	p.G344G	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.G313G	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	344					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TGGATGCAGGGCGTTACCAGG	0.448000													12	120					1.05317e-09	1.78559e-09	0.457914	1	0
CSMD1	64478	broad.mit.edu	37	8	2944790	2944790	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:2944790T>A	ENST00000602557.1	-	50	7861	c.7306A>T	c.(7306-7308)Acc>Tcc	p.T2436S	CSMD1_ENST00000537824.1_Missense_Mutation_p.T2435S|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2436S|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2436S|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2435S|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2436S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2436	Sushi 14.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGGGGTGGGTCAAACTGCAG	0.478000													8	139					0	0	0.361761	0	0
FBXO21	23014	broad.mit.edu	37	12	117583936	117583936	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:117583936C>T	ENST00000427718.2	-	12	1896	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	FBXO21_ENST00000330622.5_Missense_Mutation_p.V615M	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	615					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ATATTCTGCACCGTTTCATAG	0.458000													5	104					0	0	0.217242	0	0
ZNF622	90441	broad.mit.edu	37	5	16451879	16451879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:16451879G>A	ENST00000308683.2	-	6	1447	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	441						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCTCGCTCTCGCATAAGAGCC	0.428000													15	133					0	0	0.557998	0	0
MDM1	56890	broad.mit.edu	37	12	68708812	68708812	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:68708812C>A	ENST00000303145.7	-	9	1501	c.1415G>T	c.(1414-1416)aGg>aTg	p.R472M	MDM1_ENST00000540418.1_Missense_Mutation_p.R192M|MDM1_ENST00000411698.2_Missense_Mutation_p.R437M	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	472						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GCCCGTTTTCCTGTCCCCTTC	0.478000													32	402					2.09667e-21	4.38563e-21	0.788014	1	0
SOHLH2	54937	broad.mit.edu	37	13	36748888	36748888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:36748888C>A	ENST00000379881.3	-	7	848	c.760G>T	c.(760-762)Gag>Tag	p.E254*	SOHLH2_ENST00000554962.1_Nonsense_Mutation_p.E331*|CCDC169-SOHLH2_ENST00000511166.1_Nonsense_Mutation_p.E331*	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GAGATTTTCTCCCGGATATAT	0.398000													7	89					2.0095e-06	2.88763e-06	0.248553	1	0
BMP1	649	broad.mit.edu	37	8	22035099	22035099	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:22035099G>A	ENST00000354870.5	+	6	1016	c.750G>A	c.(748-750)ctG>ctA	p.L250L	BMP1_ENST00000397816.3_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000397814.3_Intron|BMP1_ENST00000306349.8_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACTCTTCACTGCTCCTTCTCA	0.572000													21	239					0	0	0.717897	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563723	176563723	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:176563723G>C	ENST00000367662.3	+	3	2147	c.983G>C	c.(982-984)gGg>gCg	p.G328A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G328A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	328					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCCGCTCAGGGAAGGACAAG	0.542000													3	63					0	0	0.150653	0	0
TBX5	6910	broad.mit.edu	37	12	114793855	114793855	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:114793855G>C	ENST00000310346.4	-	9	1705	c.1039C>G	c.(1039-1041)Ccc>Gcc	p.P347A	TBX5_ENST00000349716.5_Missense_Mutation_p.P297A|TBX5_ENST00000405440.2_Missense_Mutation_p.P347A	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	347					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCTTCACTGGGTGATGTCTCC	0.552000													15	176					0	0	0.557998	0	0
TRPV3	162514	broad.mit.edu	37	17	3422043	3422043	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:3422043C>A	ENST00000301365.4	-	15	2043	c.1912G>T	c.(1912-1914)Ggc>Tgc	p.G638C	TRPV3_ENST00000576742.1_Missense_Mutation_p.G638C|TRPV3_ENST00000572519.1_Missense_Mutation_p.G638C			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	638						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCACCCAGGCCTATGGTGAGC	0.522000													6	33					3.59834e-05	4.80912e-05	0.217242	1	0
OR13G1	441933	broad.mit.edu	37	1	247835486	247835486	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:247835486C>A	ENST00000359688.2	-	1	879	c.858G>T	c.(856-858)gtG>gtT	p.V286V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGAAGCTGTACACCATCGGGT	0.443000													16	167					8.28177e-16	1.66815e-15	0.557998	1	0
GPR149	344758	broad.mit.edu	37	3	154055772	154055772	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:154055772T>C	ENST00000389740.2	-	4	2011	c.1912A>G	c.(1912-1914)Agt>Ggt	p.S638G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	638						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGATGTTACTAATGATTGAC	0.428000													18	97					0	0	0.592651	0	0
OR1M1	125963	broad.mit.edu	37	19	9204721	9204721	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:9204721C>A	ENST00000429566.3	+	1	867	c.801C>A	c.(799-801)acC>acA	p.T267T		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CGGTCCTCACCACTGTGAAGG	0.547000													16	177					1.01871e-10	1.78717e-10	0.575678	1	0
B3GALT5	10317	broad.mit.edu	37	21	41033155	41033155	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:41033155C>T	ENST00000380620.3	+	5	1261	c.669C>T	c.(667-669)ggC>ggT	p.G223G	B3GALT5_ENST00000398714.2_Silent_p.G223G|B3GALT5_ENST00000343118.4_Silent_p.G223G|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.G223G			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	223					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGTTTTCTGGCGACGTGGCGA	0.522000													5	116					0	0	0.278610	0	0
SCN5A	6331	broad.mit.edu	37	3	38627391	38627391	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:38627391G>T	ENST00000413689.1	-	16	2771	c.2578C>A	c.(2578-2580)Ctc>Atc	p.L860I	SCN5A_ENST00000333535.4_Missense_Mutation_p.L860I|SCN5A_ENST00000450102.2_Missense_Mutation_p.L860I|SCN5A_ENST00000449557.2_Missense_Mutation_p.L860I|SCN5A_ENST00000451551.2_Missense_Mutation_p.L860I|SCN5A_ENST00000443581.1_Missense_Mutation_p.L860I|SCN5A_ENST00000425664.1_Missense_Mutation_p.L860I|SCN5A_ENST00000423572.2_Missense_Mutation_p.L860I|SCN5A_ENST00000414099.2_Missense_Mutation_p.L860I|SCN5A_ENST00000455624.2_Missense_Mutation_p.L860I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	860					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTGCCAAAGAGCTGCATGCCC	0.552000													6	194					8.12818e-05	0.000104294	0.248553	1	0
PHF8	23133	broad.mit.edu	37	X	54044164	54044164	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:54044164C>T	ENST00000338154.6	-	5	888	c.384G>A	c.(382-384)ctG>ctA	p.L128L	PHF8_ENST00000357988.5_Silent_p.L164L|PHF8_ENST00000338946.6_Silent_p.L128L|PHF8_ENST00000322659.8_Silent_p.L128L	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	164					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CATCCTTCTTCAGGACCAGGA	0.493000													4	96					0	0	0.150653	0	0
CNTN3	5067	broad.mit.edu	37	3	74347253	74347253	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:74347253C>A	ENST00000263665.6	-	17	2283	c.2256G>T	c.(2254-2256)gtG>gtT	p.V752V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	752	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGATGTCACCACTGTCTGGA	0.443000													6	122					8.12818e-05	0.000104294	0.248553	1	0
C6orf222	389384	broad.mit.edu	37	6	36287196	36287196	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:36287196G>C	ENST00000437635.2	-	11	2037	c.1860C>G	c.(1858-1860)tgC>tgG	p.C620W		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	620										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCATGAGGATGCACATGGCAT	0.537000													12	161					0	0	0.411799	0	0
OBSCN	84033	broad.mit.edu	37	1	228465539	228465539	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:228465539G>T	ENST00000570156.2	+	30	8200	c.8126G>T	c.(8125-8127)cGa>cTa	p.R2709L	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2280L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2280L|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1127L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1706	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCAGAATCGCGAGCCCAGCTC	0.627000													20	151					6.44725e-10	1.10636e-09	0.624587	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762914	130762914	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:130762914C>A	ENST00000392429.1	+	2	3725	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	TMEM200A_ENST00000545622.1_Silent_p.A449A|TMEM200A_ENST00000296978.3_Silent_p.A449A	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	449						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCCAAGTTGCCATCAAAAAGG	0.388000													4	88					0.217242	0.223242	0.217242	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33684078	33684078	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:33684078C>A	ENST00000504830.1	-	4	1052	c.717G>T	c.(715-717)cgG>cgT	p.R239R	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.R239R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	239					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGATGGAACGCCGAGAGAGGC	0.507000										HNSCC(64;0.19)			22	94					1.10513e-12	2.08912e-12	0.624587	1	0
SPDL1	54908	broad.mit.edu	37	5	169020408	169020408	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:169020408G>T	ENST00000265295.4	+	4	666	c.387G>T	c.(385-387)caG>caT	p.Q129H	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GTGAAAAGCAGCTGAAGCACC	0.373000													7	73					0.000157383	0.000198342	0.278610	1	0
CSMD3	114788	broad.mit.edu	37	8	113402933	113402933	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:113402933C>G	ENST00000297405.5	-	36	6138	c.5894G>C	c.(5893-5895)tGt>tCt	p.C1965S	CSMD3_ENST00000352409.3_Missense_Mutation_p.C1895S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1925S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1861S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1965	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTCCACACACAATTCAGATT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	112					0	0	0.335167	0	0
KANK4	163782	broad.mit.edu	37	1	62739746	62739746	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:62739746T>A	ENST00000371153.4	-	3	1408	c.1030A>T	c.(1030-1032)Agc>Tgc	p.S344C	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	344										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGTTTCAGGCTGGAGATGCTG	0.582000													6	160					0	0	0.278610	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115531777	115531777	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:115531777G>T	ENST00000361048.1	+	8	928	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.D195Y|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.D113Y|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.D15Y	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		TCACCTACAAGATTTATCAGA	0.358000													6	111					0.00198382	0.00229928	0.248553	1	0
CCDC180	100499483	broad.mit.edu	37	9	100126406	100126406	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:100126406G>A	ENST00000375202.2	+	43	5460	c.4108G>A	c.(4108-4110)Gcc>Acc	p.A1370T	CCDC180_ENST00000357054.1_Missense_Mutation_p.A1315T|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.A1370T|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		TCCCCCTGCTGCCGAGTGAGT	0.542000													4	57					0	0	0.150653	0	0
CRISP2	7180	broad.mit.edu	37	6	49666169	49666169	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:49666169G>T	ENST00000339139.4	-	7	559	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	108						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GATTGCAGAAGACCAGGAAGT	0.418000													10	142					4.84862e-15	9.57534e-15	0.387290	1	0
EIF3I	8668	broad.mit.edu	37	1	32694188	32694188	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:32694188C>T	ENST00000373586.1	+	7	689	c.617C>T	c.(616-618)gCg>gTg	p.A206V	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	206						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TTTGTGACCGCGTCCAAGGAC	0.597000													6	188					0	0	0.217242	0	0
STAB2	55576	broad.mit.edu	37	12	104100719	104100719	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:104100719C>A	ENST00000388887.2	+	38	4350	c.4146C>A	c.(4144-4146)gcC>gcA	p.A1382A		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1382	Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCGGCACAGCCTGCGAGACCT	0.567000													5	67					0.00116845	0.00136997	0.217242	1	0
SERPINE1	5054	broad.mit.edu	37	7	100773869	100773869	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:100773869G>T	ENST00000223095.4	+	3	596	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	SERPINE1_ENST00000445463.2_Missense_Mutation_p.V132L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	147					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GGTCAAGCAAGTGGACTTTTC	0.542000													46	537					1.14385e-22	2.42127e-22	0.870114	1	0
OBSCN	84033	broad.mit.edu	37	1	228464890	228464890	+	Translation_Start_Site	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:228464890G>A	ENST00000366707.4	+	0	6674				OBSCN_ENST00000366709.4_De_novo_Start_InFrame|OBSCN_ENST00000570156.2_Silent_p.T2585T|OBSCN_ENST00000422127.1_Silent_p.T2210T|OBSCN_ENST00000284548.11_Silent_p.T2210T|OBSCN_ENST00000359599.6_Silent_p.T1057T			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGCAAGACGATGGCCATCG	0.652000													4	10					0	0	0.150653	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977692	56977692	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:56977692C>A	ENST00000371250.3	-	5	1317	c.766G>T	c.(766-768)Gtt>Ttt	p.V256F	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	256					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCTGCCAGAACATCACTGGGA	0.547000													5	158					1.024e-07	1.60882e-07	0.184627	1	0
CMYA5	202333	broad.mit.edu	37	5	79024967	79024967	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:79024967G>A	ENST00000446378.2	+	2	410	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	127						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TATTGTGGATGAAGTGAAAAA	0.423000													5	142					0	0	0.217242	0	0
CD93	22918	broad.mit.edu	37	20	23065642	23065642	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:23065642G>C	ENST00000246006.4	-	1	1335	c.1188C>G	c.(1186-1188)tgC>tgG	p.C396W		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	396	EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCCTGGGCGCAAGGCGAGC	0.652000													7	82					0	0	0.307466	0	0
GALNT13	114805	broad.mit.edu	37	2	154996878	154996878	+	Silent	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:154996878A>G	ENST00000392825.3	+	4	738	c.171A>G	c.(169-171)ccA>ccG	p.P57P	GALNT13_ENST00000409237.1_Silent_p.P57P	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	57						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGAAGGGCCAGGAGAAATGG	0.358000													6	56					0	0	0.248553	0	0
RYR2	6262	broad.mit.edu	37	1	237753956	237753956	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:237753956G>T	ENST00000366574.2	+	31	4141	c.3824G>T	c.(3823-3825)gGc>gTc	p.G1275V	RYR2_ENST00000542537.1_Missense_Mutation_p.G1259V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAATAGACGGCACCATAGAC	0.428000													13	232					0.0202918	0.0221052	0.457914	1	0
CSMD3	114788	broad.mit.edu	37	8	113349772	113349772	+	Splice_Site	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:113349772C>A	ENST00000297405.5	-	43	7085	c.6841_splice	c.e43+1	p.A2281_splice	CSMD3_ENST00000352409.3_Splice_Site_p.A2211_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A2241_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A2177_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2281	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAAGCATACCTTCACACCTT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	100					1.5548e-18	3.22359e-18	0.693898	1	0
PDC	5132	broad.mit.edu	37	1	186413120	186413120	+	Silent	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:186413120A>G	ENST00000391997.2	-	4	819	c.732T>C	c.(730-732)gaT>gaC	p.D244D	PDC_ENST00000497198.1_Silent_p.D192D|PDC_ENST00000340129.5_Silent_p.D244D|PDC_ENST00000456239.2_Silent_p.D192D	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	244					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TTCATTCAACATCTTCTTCTT	0.348000													9	160					0	0	0.361761	0	0
NUTF2	10204	broad.mit.edu	37	16	67899046	67899046	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:67899046C>A	ENST00000219169.4	+	2	296	c.13C>A	c.(13-15)Cca>Aca	p.P5T	NUTF2_ENST00000569436.2_Missense_Mutation_p.P5T|NUTF2_ENST00000568396.2_Missense_Mutation_p.P5T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	5					protein transport	cytosol|nuclear pore	protein binding|transporter activity	p.P5T(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GGGAGACAAGCCAATTTGGGA	0.488000													7	50					0.00198382	0.00229928	0.248553	1	0
SLC17A1	6568	broad.mit.edu	37	6	25813395	25813395	+	Silent	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:25813395A>G	ENST00000244527.4	-	7	778	c.663T>C	c.(661-663)taT>taC	p.Y221Y	SLC17A1_ENST00000468082.1_Silent_p.Y221Y|SLC17A1_ENST00000476801.1_Silent_p.Y221Y|SLC17A1_ENST00000427328.1_Silent_p.Y221Y	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	221					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGGGGTCATCATAAAACAGAA	0.448000													16	68					0	0	0.539581	0	0
GMFG	9535	broad.mit.edu	37	19	39825901	39825901	+	Splice_Site	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:39825901C>A	ENST00000598034.1	-	3	179	c.150_splice	c.e3+1	p.Q50_splice	GMFG_ENST00000597595.1_Splice_Site_p.Q50_splice|GMFG_ENST00000594700.1_Splice_Site_p.Q50_splice|GMFG_ENST00000595636.1_Splice_Site_p.Q50_splice|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000253054.8_Splice_Site_p.Q17_splice|GMFG_ENST00000600322.1_Splice_Site_p.Q17_splice|GMFG_ENST00000601387.1_Splice_Site_p.Q9_splice			O60234	GMFG_HUMAN	glia maturation factor, gamma	50	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGCCCATCACCTGAAATTCTT	0.567000													9	267					0.000151284	0.000192717	0.435327	1	0
CNTN1	1272	broad.mit.edu	37	12	41327286	41327286	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:41327286G>T	ENST00000551295.2	+	8	844	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	CNTN1_ENST00000547702.1_Missense_Mutation_p.D243Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.D243Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.D232Y|CNTN1_ENST00000347616.1_Missense_Mutation_p.D243Y|CNTN1_ENST00000547849.1_Missense_Mutation_p.D243Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	243	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATATCCTGCTGATATTGTAGT	0.308000													10	238					0.000151284	0.000192717	0.435327	1	0
DNAJC6	9829	broad.mit.edu	37	1	65855292	65855292	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:65855292G>T	ENST00000395325.3	+	11	1436	c.1279G>T	c.(1279-1281)Gcc>Tcc	p.A427S	DNAJC6_ENST00000371069.4_Missense_Mutation_p.A484S|DNAJC6_ENST00000263441.7_Missense_Mutation_p.A414S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	427					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TGGTTTCTTTGCCTCTCTCTG	0.423000													5	103					0.217242	0.223242	0.217242	1	0
WNT3	7473	broad.mit.edu	37	17	44851200	44851200	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:44851200G>T	ENST00000225512.5	-	2	318	c.156C>A	c.(154-156)gtC>gtA	p.V52V		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	52					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTTGCTTGGGGACCAGGCCTG	0.642000													4	69					0.00909568	0.0100636	0.150653	1	0
TTC5	91875	broad.mit.edu	37	14	20764577	20764577	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:20764577T>A	ENST00000258821.3	-	6	724	c.668A>T	c.(667-669)aAt>aTt	p.N223I		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	223					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AAGGTCAGGATTGCTAGAAGC	0.423000													18	235					0	0	0.608945	0	0
HSPE1	3336	broad.mit.edu	37	2	198367823	198367823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:198367823G>T	ENST00000233893.5	+	3	672	c.229G>T	c.(229-231)Gga>Tga	p.G77*	MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409729.1_Nonsense_Mutation_p.G22*|HSPE1_ENST00000409468.1_Nonsense_Mutation_p.G77*	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			CCCAGAATATGGAGGCACCAA	0.333000													9	154					0.0581538	0.0610917	0.335167	1	0
NCAM2	4685	broad.mit.edu	37	21	22841089	22841089	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:22841089T>G	ENST00000400546.1	+	14	2130	c.1881T>G	c.(1879-1881)atT>atG	p.I627M	NCAM2_ENST00000284894.7_Missense_Mutation_p.I485M	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	627	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGGAATACATTGTGAAATATA	0.383000													6	66					0	0	0.217242	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996009	57996009	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:57996009G>T	ENST00000316770.2	-	1	381	c.339C>A	c.(337-339)agC>agA	p.S113R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AACAGTCCGTGCTGCCGAGGG	0.562000													5	47					0.184627	0.191676	0.184627	1	0
CSMD3	114788	broad.mit.edu	37	8	113484931	113484931	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:113484931A>T	ENST00000297405.5	-	32	5528	c.5284T>A	c.(5284-5286)Tgt>Agt	p.C1762S	CSMD3_ENST00000352409.3_Missense_Mutation_p.C1762S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1722S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1658S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1762	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGACTTCCACAGGGCGCTAGG	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	77					0	0	0.654019	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336633	35336633	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:35336633C>A	ENST00000278379.3	-	3	529	c.247G>T	c.(247-249)Gat>Tat	p.D83Y	SLC1A2_ENST00000395753.1_Missense_Mutation_p.D74Y|SLC1A2_ENST00000606205.1_Missense_Mutation_p.D83Y|SLC1A2_ENST00000395750.1_Missense_Mutation_p.D74Y	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	83					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATGAGTATATCCCCTGGGAAG	0.483000													5	129					0.00116845	0.00136997	0.217242	1	0
RP1L1	94137	broad.mit.edu	37	8	10470312	10470312	+	Silent	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:10470312G>C	ENST00000382483.3	-	4	1519	c.1296C>G	c.(1294-1296)gtC>gtG	p.V432V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	432					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CACTGCAGCGGACGTGCTGGG	0.687000													10	105					0	0	0.435327	0	0
PCSK5	5125	broad.mit.edu	37	9	78911708	78911708	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:78911708G>T	ENST00000545128.1	+	27	3988	c.3450G>T	c.(3448-3450)caG>caT	p.Q1150H		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	857					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCAGCTGCCAGGAAGGACTGC	0.567000													15	117					2.39187e-15	4.77088e-15	0.575678	1	0
TNRC6B	23112	broad.mit.edu	37	22	40673105	40673105	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr22:40673105G>A	ENST00000454349.2	+	8	3377	c.3166G>A	c.(3166-3168)Gat>Aat	p.D1056N	TNRC6B_ENST00000301923.9_Missense_Mutation_p.D309N|TNRC6B_ENST00000335727.8_Missense_Mutation_p.D1003N|TNRC6B_ENST00000402203.1_Missense_Mutation_p.D309N|TNRC6B_ENST00000497559.1_3'UTR	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1056					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AGGAAACAATGATTCATGGAT	0.338000													3	47					0	0	0.115264	0	0
MCM10	55388	broad.mit.edu	37	10	13239664	13239664	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:13239664T>C	ENST00000378694.1	+	14	2091	c.2016T>C	c.(2014-2016)ctT>ctC	p.L672L	MCM10_ENST00000378714.3_Silent_p.L672L|MCM10_ENST00000484800.2_Silent_p.L673L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	673					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GCCAGGTTCTTACAAAAACAA	0.403000													3	47					0	0	0.115264	0	0
CFTR	1080	broad.mit.edu	37	7	117171098	117171098	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:117171098C>T	ENST00000003084.6	+	4	551	c.419C>T	c.(418-420)cCa>cTa	p.P140L	CFTR_ENST00000454343.1_Missense_Mutation_p.P140L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	140	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTCCTACACCCAGCCATTTTT	0.443000									Cystic Fibrosis				3	57					0	0	0.184627	0	0
BTBD1	53339	broad.mit.edu	37	15	83725258	83725258	+	Silent	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:83725258T>G	ENST00000261721.4	-	2	643	c.441A>C	c.(439-441)acA>acC	p.T147T	RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Silent_p.T147T	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	147						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TGGTCATAACTGTTTCTGGAC	0.388000													12	74					0	0	0.435327	0	0
GABRB3	2562	broad.mit.edu	37	15	26825554	26825554	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:26825554C>T	ENST00000541819.2	-	7	864	c.762G>A	c.(760-762)aaG>aaA	p.K254K	GABRB3_ENST00000299267.4_Silent_p.K198K|GABRB3_ENST00000311550.5_Silent_p.K198K|GABRB3_ENST00000400188.3_Silent_p.K127K|GABRB3_ENST00000545868.1_Silent_p.K113K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	198					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGGTAACAGCCTTGTCCCCGC	0.532000													21	124					0	0	0.654019	0	0
MYH6	4624	broad.mit.edu	37	14	23862218	23862218	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:23862218G>T	ENST00000405093.3	-	24	3224	c.3154C>A	c.(3154-3156)Cga>Aga	p.R1052R	MYH6_ENST00000356287.3_Silent_p.R1052R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1052					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCTTTGCTCGCTCCAGGTCC	0.488000													6	86					2.0095e-06	2.88763e-06	0.248553	1	0
SMG6	23293	broad.mit.edu	37	17	2203075	2203075	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:2203075C>A	ENST00000544865.1	-	2	1389	c.879G>T	c.(877-879)aaG>aaT	p.K293N	SMG6_ENST00000263073.5_Missense_Mutation_p.K324N			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	324	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTAAATGTCTCTTCCTTTCTG	0.473000													25	200					9.39395e-14	1.83467e-13	0.706142	1	0
LRRC7	57554	broad.mit.edu	37	1	70489039	70489039	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:70489039C>A	ENST00000310961.5	+	18	2095	c.1677C>A	c.(1675-1677)ccC>ccA	p.P559P	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Silent_p.P554P|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	554						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCACTCTTCCCTCTCTAAGTG	0.522000													18	211					5.35047e-06	7.47586e-06	0.654019	1	0
ABCB11	8647	broad.mit.edu	37	2	169801117	169801117	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:169801117C>A	ENST00000263817.6	-	21	2732	c.2608G>T	c.(2608-2610)Ggg>Tgg	p.G870W		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	870	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TAGCTCACCCCTTGAACTTGG	0.448000													42	310					1.21353e-23	2.59991e-23	0.870114	1	0
XIST	7503	broad.mit.edu	37	X	73066011	73066011	+	RNA	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:73066011C>A	ENST00000429829.1	-	0	6577					NR_001564.2																						CACACGCATACCAGGCCAGGA	0.517000													15	170					3.52763e-06	4.99807e-06	0.520397	1	0
CREB5	9586	broad.mit.edu	37	7	28527850	28527850	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:28527850C>A	ENST00000357727.2	+	2	451	c.61C>A	c.(61-63)Cca>Aca	p.P21T	CREB5_ENST00000396299.2_Intron|CREB5_ENST00000396300.2_Missense_Mutation_p.P14T	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	21					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CTGCAGTGCCCCAGGCTGCTC	0.542000													21	170					3.7963e-18	7.82504e-18	0.654019	1	0
KRT26	353288	broad.mit.edu	37	17	38927945	38927945	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:38927945T>C	ENST00000335552.4	-	1	469	c.421A>G	c.(421-423)Ata>Gta	p.I141V		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	141	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGATCTTCTATGACTGAGAAG	0.408000													6	90					0	0	0.248553	0	0
VWF	7450	broad.mit.edu	37	12	6125748	6125748	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:6125748G>T	ENST00000261405.5	-	30	5499	c.5245C>A	c.(5245-5247)Ccg>Acg	p.P1749T		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1749	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTTTCTCCGGGACCACGTTC	0.567000													6	91					2.7689e-08	4.44911e-08	0.248553	1	0
TEX37	200523	broad.mit.edu	37	2	88828652	88828652	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:88828652A>T	ENST00000303254.3	+	4	345	c.203A>T	c.(202-204)tAc>tTc	p.Y68F		NM_152670.2	NP_689883.1			testis expressed 37																		ACAGATGGGTACCCTGCTTTC	0.547000													5	99					0	0	0.217242	0	0
OXCT1	5019	broad.mit.edu	37	5	41842842	41842842	+	Silent	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:41842842T>A	ENST00000196371.5	-	6	766	c.606A>T	c.(604-606)gcA>gcT	p.A202A	OXCT1_ENST00000509987.1_Silent_p.A16A	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	202					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CCCCTGTAATTGCTTCCTCCA	0.443000													10	356					0	0	0.457914	0	0
ORC1	4998	broad.mit.edu	37	1	52847401	52847401	+	Silent	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:52847401T>A	ENST00000371568.3	-	14	2264	c.2046A>T	c.(2044-2046)acA>acT	p.T682T	ORC1_ENST00000371566.1_Silent_p.T682T	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	682	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTGGCTATATGTATAGGGCT	0.512000													16	134					0	0	0.575678	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307405	39307405	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:39307405C>G	ENST00000541347.1	-	2	835	c.596G>C	c.(595-597)gGc>gCc	p.G199A	CX3CR1_ENST00000542107.1_Missense_Mutation_p.G199A|CX3CR1_ENST00000358309.3_Missense_Mutation_p.G231A|CX3CR1_ENST00000399220.2_Missense_Mutation_p.G199A	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	199					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GAGTAGGAAGCCAAGAAAATT	0.458000													5	140					0	0	0.278610	0	0
CUX1	1523	broad.mit.edu	37	7	101921232	101921232	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:101921232G>T	ENST00000437600.4	+	18	1922	c.1570G>T	c.(1570-1572)Gcc>Tcc	p.A524S	CUX1_ENST00000393824.3_Missense_Mutation_p.A487S|CUX1_ENST00000292538.4_Missense_Mutation_p.A526S|CUX1_ENST00000425244.2_Missense_Mutation_p.A480S|CUX1_ENST00000547394.2_Missense_Mutation_p.A510S|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	335					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACCGCCTGGCCCAGCACAC	0.647000													4	24					0.014758	0.0161515	0.184627	1	0
GNL3L	54552	broad.mit.edu	37	X	54578157	54578157	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:54578157G>C	ENST00000336470.4	+	11	1159	c.1020G>C	c.(1018-1020)caG>caC	p.Q340H	GNL3L_ENST00000360845.2_Missense_Mutation_p.Q340H	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	340					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CCATCCTGCAGCGCTGCAACC	0.617000													6	49					0	0	0.217242	0	0
CLN6	54982	broad.mit.edu	37	15	68510888	68510888	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:68510888G>A	ENST00000249806.5	-	2	341	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	CLN6_ENST00000538696.1_Missense_Mutation_p.R94C|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000569336.1_5'UTR|CLN6_ENST00000566347.1_Missense_Mutation_p.R62C|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000564752.1_Missense_Mutation_p.R62C|CLN6_ENST00000418702.2_Silent_p.G27G	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	62			R -> H (in CLN6).		cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCAATGGGACGCCCAAAGTCC	0.562000													4	180					0	0	0.217242	0	0
ANKS1B	56899	broad.mit.edu	37	12	100206031	100206031	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:100206031C>A	ENST00000547776.2	-	3	273	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G92W	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	92						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGAAAATACCCTTTGTTGTCT	0.398000													6	104					8.12818e-05	0.000104294	0.248553	1	0
MUC16	94025	broad.mit.edu	37	19	9070670	9070670	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:9070670C>A	ENST00000397910.4	-	3	16979	c.16776G>T	c.(16774-16776)ggG>ggT	p.G5592G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5594	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAATGAGTCCCTCCCTGGA	0.522000													12	149					0.000151284	0.000192717	0.435327	1	0
OR1L4	254973	broad.mit.edu	37	9	125486718	125486718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:125486718C>A	ENST00000259466.1	+	1	450	c.450C>A	c.(448-450)tgC>tgA	p.C150*		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGGGTTCTTGCAGCATCTCCC	0.502000													17	258					7.45023e-12	1.36459e-11	0.592651	1	0
USP31	57478	broad.mit.edu	37	16	23080011	23080011	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:23080011T>A	ENST00000219689.7	-	16	3414	c.3415A>T	c.(3415-3417)Agg>Tgg	p.R1139W	USP31_ENST00000567975.1_Missense_Mutation_p.R432W	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1139	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AAAGGGCTCCTTGTGGCAGGG	0.592000													10	60					0	0	0.411799	0	0
CEP170	9859	broad.mit.edu	37	1	243349703	243349703	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:243349703G>A	ENST00000366542.1	-	9	1181	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	CEP170_ENST00000366543.1_Missense_Mutation_p.T377M|CEP170_ENST00000366544.1_Missense_Mutation_p.T377M	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	377						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCACTTTGCGTACCATCATC	0.403000													3	47					0	0	0.115264	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514194	156514194	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:156514194C>A	ENST00000307851.4	-	7	1555	c.825G>T	c.(823-825)gaG>gaT	p.E275D	HAVCR2_ENST00000522593.1_Missense_Mutation_p.E247D	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	275						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTGGGCTCCTCCACTTCAT	0.463000													11	74					9.31168e-06	1.29594e-05	0.435327	1	0
OR5F1	338674	broad.mit.edu	37	11	55762049	55762049	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:55762049G>T	ENST00000278409.1	-	1	52	c.53C>A	c.(52-54)gCa>gAa	p.A18E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAGCGTGTCTGCTAATCCCAA	0.348000													5	106					0.00116845	0.00136997	0.217242	1	0
ACE	1636	broad.mit.edu	37	17	61573795	61573795	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:61573795G>A	ENST00000577647.1	+	12	1744	c.1699G>A	c.(1699-1701)Gca>Aca	p.A567T	ACE_ENST00000290863.6_Missense_Mutation_p.A567T|ACE_ENST00000290866.4_Missense_Mutation_p.A1141T|ACE_ENST00000490216.2_Missense_Mutation_p.A567T|ACE_ENST00000428043.1_Intron|ACE_ENST00000413513.3_Intron|ACE_ENST00000421982.2_Intron			P12821	ACE_HUMAN	angiotensin I converting enzyme	1141	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTTCCACGAGGCACTGTGCCA	0.652000													18	160					0	0	0.557998	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171367	68171367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:68171367G>T	ENST00000243457.3	+	2	570	c.187G>T	c.(187-189)Gag>Tag	p.E63*	KCNJ2_ENST00000535240.1_Nonsense_Mutation_p.E63*	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	63					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CAATGTGGGTGAGAAGGGGCA	0.527000													11	93					9.70103e-10	1.64871e-09	0.361761	1	0
CENPF	1063	broad.mit.edu	37	1	214816438	214816438	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:214816438A>T	ENST00000366955.3	+	12	4925	c.4757A>T	c.(4756-4758)cAg>cTg	p.Q1586L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1682	2 X 96 AA approximate tandem repeats.		Missing.		cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGCTCGAGCAGTTATTAAGT	0.448000													3	37					0	0	0.115264	0	0
IFI16	3428	broad.mit.edu	37	1	158984657	158984657	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:158984657G>T	ENST00000295809.7	+	2	442	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	IFI16_ENST00000368131.4_Missense_Mutation_p.G63C|IFI16_ENST00000359709.3_Missense_Mutation_p.G63C|IFI16_ENST00000448393.2_Missense_Mutation_p.G63C|IFI16_ENST00000430894.2_Missense_Mutation_p.G67C|IFI16_ENST00000340979.6_Missense_Mutation_p.G63C|IFI16_ENST00000368132.3_Missense_Mutation_p.G63C			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	63	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGCTGGTTTGGGCAAACTAAT	0.353000													4	108					0.184627	0.191676	0.184627	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57866309	57866309	+	Silent	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:57866309G>C	ENST00000393797.2	-	21	2649	c.2457C>G	c.(2455-2457)ctC>ctG	p.L819L	ARHGAP9_ENST00000393791.3_Silent_p.L729L|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000430041.2_Silent_p.L545L|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Silent_p.L748L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	748					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ATCAGGGGAAGAGGCTGGTGA	0.532000													4	75					0	0	0.217242	0	0
KIAA1551	55196	broad.mit.edu	37	12	32136199	32136199	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:32136199G>T	ENST00000312561.4	+	4	2724	c.2310G>T	c.(2308-2310)gaG>gaT	p.E770D	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TTCTGTCAGAGGTCAAAACAT	0.373000													25	51					2.39556e-15	4.77088e-15	0.639603	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247034	89247034	+	RNA	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:89247034G>C	ENST00000496168.1	-	0	316																											TGACTGGCCCGGCAAGTGATG	0.498000													17	201					0	0	0.592651	0	0
GPC5	2262	broad.mit.edu	37	13	92101095	92101095	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:92101095C>A	ENST00000377067.3	+	2	616	c.244C>A	c.(244-246)Cgc>Agc	p.R82S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	82						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATTGCGGCTCGCCAGGATAT	0.428000													4	94					0.217242	0.223242	0.217242	1	0
PTGIR	5739	broad.mit.edu	37	19	47124587	47124587	+	Missense_Mutation	SNP	C	C	A	rs144789807	byFrequency	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:47124587C>A	ENST00000291294.2	-	3	1244	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	PTGIR_ENST00000598865.1_Missense_Mutation_p.V159L|PTGIR_ENST00000597185.1_Missense_Mutation_p.V100L|PTGIR_ENST00000594275.1_Missense_Mutation_p.V128L	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	371					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GACGTTCCCACGGCGCTGCCG	0.647000													6	72					0.00116845	0.00136997	0.217242	1	0
OR10P1	121130	broad.mit.edu	37	12	56031471	56031471	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:56031471G>A	ENST00000309675.2	+	1	828	c.796G>A	c.(796-798)Ggc>Agc	p.G266S		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCGCAGGCAGGCTCCTCTGT	0.577000													14	147					0	0	0.500413	0	0
NEBL	10529	broad.mit.edu	37	10	21124531	21124531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:21124531C>A	ENST00000377122.4	-	14	1756	c.1360G>T	c.(1360-1362)Gag>Tag	p.E454*	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	454					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTATTGACTCCAGGTCTTTC	0.408000													33	202					5.8336e-16	1.18516e-15	0.779181	1	0
PPP1R13L	10848	broad.mit.edu	37	19	45899652	45899652	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:45899652T>A	ENST00000418234.2	-	5	833	c.755A>T	c.(754-756)gAg>gTg	p.E252V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E252V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	252	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGGTCAGACTCGTTCCAGGC	0.657000													18	91					0	0	0.681144	0	0
C10orf76	79591	broad.mit.edu	37	10	103789483	103789483	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:103789483C>A	ENST00000370033.4	-	5	445	c.326G>T	c.(325-327)cGa>cTa	p.R109L	C10orf76_ENST00000311122.5_Missense_Mutation_p.R109L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	109						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATGGACTCCTCGAATGAGTGC	0.478000													16	124					3.52763e-06	4.99807e-06	0.520397	1	0
KRCC1	51315	broad.mit.edu	37	2	88327418	88327418	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:88327418C>G	ENST00000347055.3	-	4	1058	c.665G>C	c.(664-666)aGc>aCc	p.S222T		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	222	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TACATCTCGGCTTTTTTTCTC	0.398000													11	153					0	0	0.361761	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903689	54903689	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:54903689G>A	ENST00000293373.6	+	7	734	c.655G>A	c.(655-657)Gct>Act	p.A219T	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A169T|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	219					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAACCAGGGGGCTGAGCAGTG	0.512000													4	177					0	0	0.248553	0	0
DMBX1	127343	broad.mit.edu	37	1	46977903	46977903	+	Missense_Mutation	SNP	G	G	T	rs141010936		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:46977903G>T	ENST00000371956.4	+	4	901	c.886G>T	c.(886-888)Gca>Tca	p.A296S	DMBX1_ENST00000360032.3_Missense_Mutation_p.A291S	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	296					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCTGCTGCTGCAGCGGCGGC	0.657000													9	46					0.000308642	0.00038485	0.479597	1	0
RGS22	26166	broad.mit.edu	37	8	101076165	101076165	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:101076165C>A	ENST00000360863.6	-	8	1025	c.831G>T	c.(829-831)gaG>gaT	p.E277D	RGS22_ENST00000523437.1_Missense_Mutation_p.E265D|RGS22_ENST00000523287.1_Missense_Mutation_p.E96D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	277	Poly-Glu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATACAGACACCtcttcttctt	0.378000													24	195					2.39556e-15	4.77088e-15	0.639603	1	0
PSEN2	5664	broad.mit.edu	37	1	227076674	227076674	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:227076674G>T	ENST00000366782.1	+	8	1310	c.810G>T	c.(808-810)gcG>gcT	p.A270A	PSEN2_ENST00000340188.4_Silent_p.A237A|PSEN2_ENST00000391872.2_Silent_p.A270A|PSEN2_ENST00000472139.2_Silent_p.A93A|PSEN2_ENST00000366783.3_Silent_p.A237A|PSEN2_ENST00000422240.2_Silent_p.A237A			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	237					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TGATCAGTGCGCTCATGGCCC	0.597000													6	88					2.0095e-06	2.88763e-06	0.248553	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174219771	174219771	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:174219771G>T	ENST00000251507.4	+	6	1049		c.e6+1		RABGAP1L_ENST00000367689.3_Splice_Site|RABGAP1L_ENST00000357444.6_Splice_Site	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like						regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAAACTTTAGGTGAGGCATTT	0.383000													6	97					1.06961e-07	1.65474e-07	0.278610	1	0
C10orf137	26098	broad.mit.edu	37	10	127436195	127436195	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:127436195A>T	ENST00000337623.3	+	19	2908	c.2803A>T	c.(2803-2805)Act>Tct	p.T935S	RP11-383C5.7_ENST00000600784.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.T969S|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAATTGTCCACTACTTACTT	0.403000													16	123					0	0	0.575678	0	0
YEATS2	55689	broad.mit.edu	37	3	183471913	183471913	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:183471913G>T	ENST00000305135.5	+	11	1345		c.e11-1			NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCTCAAGCAGGATTCCCAGC	0.403000													30	259					1.59932e-28	3.43684e-28	0.834066	1	0
AIG1	51390	broad.mit.edu	37	6	143654577	143654577	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:143654577A>T	ENST00000357847.4	+	5	724	c.674A>T	c.(673-675)cAg>cTg	p.Q225L	AIG1_ENST00000275235.4_Missense_Mutation_p.Q225L|AIG1_ENST00000344492.5_Missense_Mutation_p.Q173L	NM_016108.2	NP_057192.2	Q9NVV5	AIG1_HUMAN	androgen-induced 1	225						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TGGGATACACAGAAAAGTAAG	0.433000													5	79					0	0	0.248553	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961115	73961115	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:73961115C>T	ENST00000373468.1	-	3	3928	c.3277G>A	c.(3277-3279)Gga>Aga	p.G1093R	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1093R			Q5QGS0	K2022_HUMAN	KIAA2022	1093					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAGTGTTCCTAGTGTCTTC	0.507000													4	155					0	0	0.150653	0	0
DNAH11	8701	broad.mit.edu	37	7	21629022	21629022	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:21629022G>T	ENST00000328843.6	+	12	2200		c.e12+1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGACCCAAAGGTAGGGATTTG	0.313000									Kartagener syndrome				7	97					8.12818e-05	0.000104294	0.248553	1	0
ITGA10	8515	broad.mit.edu	37	1	145535836	145535836	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:145535836G>T	ENST00000369304.3	+	16	2199	c.2024G>T	c.(2023-2025)tGt>tTt	p.C675F	ITGA10_ENST00000539363.1_Missense_Mutation_p.C532F|ITGA10_ENST00000538811.1_Missense_Mutation_p.C544F	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	675					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGCAGTCTGTCTGACTGCA	0.562000													12	121					2.80697e-09	4.66948e-09	0.387290	1	0
FAM183B	340286	broad.mit.edu	37	7	38725358	38725358	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:38725358G>A	ENST00000409072.3	-	2	1182	c.248C>T	c.(247-249)cCg>cTg	p.P83L						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CTGTGCCTCCGGGTACTTCTT	0.547000													4	128					0	0	0.217242	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411325	210411325	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:210411325T>C	ENST00000367012.3	+	2	250	c.20T>C	c.(19-21)aTg>aCg	p.M7T	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	7							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GTTCTGTCCATGAATAGATTC	0.478000													3	169					0	0	0.150653	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926440	157926440	+	Silent	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:157926440G>C	ENST00000389413.3	-	9	1588	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	PTPRN2_ENST00000409483.1_Silent_p.L457L|PTPRN2_ENST00000389418.4_Silent_p.L495L|PTPRN2_ENST00000404321.2_Silent_p.L518L|PTPRN2_ENST00000389416.4_Silent_p.L478L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	495						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCCGTCGCTGAGGGCCTCCT	0.642000													11	98					0	0	0.411799	0	0
NCOA6	23054	broad.mit.edu	37	20	33328482	33328482	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:33328482T>C	ENST00000374796.2	-	12	8148	c.5578A>G	c.(5578-5580)Aca>Gca	p.T1860A	NCOA6_ENST00000359003.2_Missense_Mutation_p.T1860A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1860	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCCGGAGCTGTGGTGTCTAGC	0.517000													12	122					0	0	0.457914	0	0
TTC17	55761	broad.mit.edu	37	11	43515321	43515321	+	Splice_Site	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:43515321A>G	ENST00000039989.4	+	24	3308		c.e24-1			NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17								binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TGGCCCTCACAGGAAGAATTT	0.468000													6	178					0	0	0.457914	0	0
EIF1AD	84285	broad.mit.edu	37	11	65766820	65766820	+	Splice_Site	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:65766820C>A	ENST00000312234.2	-	5	688		c.e5+1		EIF1AD_ENST00000533544.1_Splice_Site|EIF1AD_ENST00000527249.1_Splice_Site|EIF1AD_ENST00000526451.1_Splice_Site|EIF1AD_ENST00000525767.1_Splice_Site	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing							nucleus	translation initiation factor activity			lung(5)	5						TTGTTCCTCACCTGTTCCTGT	0.458000													48	509					5.12918e-33	1.10897e-32	0.870114	1	0
VRK1	7443	broad.mit.edu	37	14	97321690	97321690	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:97321690G>T	ENST00000216639.3	+	8	855	c.706G>T	c.(706-708)Gtg>Ttg	p.V236L		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	236	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		ACACAATGGCGTGGGTATGTC	0.393000													10	136					0.000151284	0.000192717	0.435327	1	0
SLC4A1	6521	broad.mit.edu	37	17	42334822	42334822	+	Missense_Mutation	SNP	C	C	T	rs45568837	byFrequency	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:42334822C>T	ENST00000262418.6	-	13	1677	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	508	Membrane (anion exchange).		E -> K (in dbSNP:rs45568837).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAGCTACCCTCGAAGGCCACC	0.552000													7	118					0	0	0.248553	0	0
OLFML1	283298	broad.mit.edu	37	11	7509635	7509635	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:7509635T>A	ENST00000329293.3	+	2	801	c.407T>A	c.(406-408)cTg>cAg	p.L136Q	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Missense_Mutation_p.L136Q|OLFML1_ENST00000528758.1_Intron	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	136						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATCCGGACTCTGCTGAATGCA	0.463000													5	20					0	0	0.184627	0	0
DBH	1621	broad.mit.edu	37	9	136508657	136508657	+	Silent	SNP	C	C	T	rs76726853		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:136508657C>T	ENST00000393056.2	+	4	879	c.867C>T	c.(865-867)ccC>ccT	p.P289P		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	289					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGATGAAACCCGACCGCCTCA	0.672000													9	116					0	0	0.361761	0	0
TLR8	51311	broad.mit.edu	37	X	12940173	12940173	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:12940173C>A	ENST00000218032.6	+	2	3101	c.3014C>A	c.(3013-3015)cCt>cAt	p.P1005H	TLR8_ENST00000311912.5_Missense_Mutation_p.P1023H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	1005	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCCAGTGGCCTGACAACCCG	0.443000													5	194					0.000602214	0.000727804	0.184627	1	0
ARHGEF19	128272	broad.mit.edu	37	1	16529032	16529032	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:16529032C>G	ENST00000270747.3	-	13	2081	c.1945G>C	c.(1945-1947)Gct>Cct	p.A649P	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	649	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGCTCAGCCATCTTGGCA	0.657000													6	114					0	0	0.278610	0	0
MMP16	4325	broad.mit.edu	37	8	89131043	89131043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:89131043C>A	ENST00000286614.6	-	5	1038	c.757G>T	c.(757-759)Gga>Tga	p.G253*	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	253					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGCTCCAATCCCAGAGCATGT	0.388000													9	61					0.000442599	0.000546104	0.335167	1	0
SRGAP1	57522	broad.mit.edu	37	12	64519927	64519927	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:64519927G>T	ENST00000355086.3	+	19	2919	c.2395G>T	c.(2395-2397)Gtg>Ttg	p.V799L	SRGAP1_ENST00000543397.1_Missense_Mutation_p.V736L|SRGAP1_ENST00000357825.3_Missense_Mutation_p.V776L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	799	SH3.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTATATAGTGGTGCAGGATAT	0.522000													6	136					0.217242	0.223242	0.217242	1	0
KCNH8	131096	broad.mit.edu	37	3	19575088	19575088	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:19575088G>T	ENST00000328405.2	+	16	3087	c.2821G>T	c.(2821-2823)Ggg>Tgg	p.G941W		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	941						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCAAACAGGCGGGGCTGCTTA	0.547000													6	114					0.0293803	0.0312359	0.248553	1	0
CPQ	10404	broad.mit.edu	37	8	98078268	98078268	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:98078268A>G	ENST00000220763.5	+	7	1295	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	CPQ_ENST00000529551.1_3'UTR	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	362					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										CTGGTGATGGAGTCTGACGCA	0.473000													4	83					0	0	0.184627	0	0
PTPRB	5787	broad.mit.edu	37	12	70918373	70918373	+	Splice_Site	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:70918373T>G	ENST00000334414.6	-	33	6549		c.e33-2		RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549359.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000261266.5_Splice_Site|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATACTGACACTGTGGAAAAGC	0.403000													4	85					0	0	0.184627	0	0
RP1	6101	broad.mit.edu	37	8	55541397	55541397	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:55541397G>T	ENST00000220676.1	+	4	5103	c.4955G>T	c.(4954-4956)cGc>cTc	p.R1652L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1652			R -> L (in RP1; uncertain pathogenicity).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGTCTACCCGCAAATCTCAG	0.373000													23	138					8.24728e-16	1.66595e-15	0.681144	1	0
HNF4A	3172	broad.mit.edu	37	20	43047093	43047093	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:43047093A>T	ENST00000316099.3	+	6	766	c.677A>T	c.(676-678)gAg>gTg	p.E226V	HNF4A_ENST00000443598.2_Missense_Mutation_p.E226V|HNF4A_ENST00000457232.1_Missense_Mutation_p.E204V|HNF4A_ENST00000415691.1_Missense_Mutation_p.E226V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	226					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CATGCTGGCGAGCACCTGCTG	0.622000													22	268					0	0	0.654019	0	0
TKTL2	84076	broad.mit.edu	37	4	164393428	164393428	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:164393428G>T	ENST00000280605.3	-	1	1619	c.1459C>A	c.(1459-1461)Cca>Aca	p.P487T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	487						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTCTTGTGGGGTATAAATA	0.463000													7	126					8.12818e-05	0.000104294	0.248553	1	0
DDX54	79039	broad.mit.edu	37	12	113614691	113614691	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:113614691G>A	ENST00000314045.7	-	7	733	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	DDX54_ENST00000306014.5_Silent_p.L236L	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	236	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGCAGCTTCAGGCTCATTTCC	0.592000													12	203					0	0	0.457914	0	0
HCN3	57657	broad.mit.edu	37	1	155253905	155253905	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:155253905G>T	ENST00000368358.3	+	3	857	c.849G>T	c.(847-849)tgG>tgT	p.W283C	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	283						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGACTGCTGGGTCTCCATCA	0.577000													8	91					1.06961e-07	1.65474e-07	0.278610	1	0
TMEM39B	55116	broad.mit.edu	37	1	32542911	32542911	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:32542911C>G	ENST00000427288.1	+	6	717	c.237C>G	c.(235-237)ctC>ctG	p.L79L	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000336294.5_Silent_p.L194L			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	194						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCTGTTCCTCTGCTATCCGT	0.602000													13	113					0	0	0.457914	0	0
CHTOP	26097	broad.mit.edu	37	1	153614810	153614810	+	Missense_Mutation	SNP	G	G	A	rs144635323	byFrequency	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:153614810G>A	ENST00000368686.1	+	2	199	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	CHTOP_ENST00000368694.3_Missense_Mutation_p.R103Q|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000403433.1_Missense_Mutation_p.R103Q|CHTOP_ENST00000368687.1_Missense_Mutation_p.R78Q|CHTOP_ENST00000368690.3_Missense_Mutation_p.R103Q			Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						ATCGGAGGACGAGGCCTACCC	0.602000													8	103					0	0	0.335167	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106816020	106816020	+	RNA	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:106816020T>G	ENST00000390615.2	-	0	132																											CACCTGACACTGGACACCTGC	0.517000													7	113					0	0	0.457914	0	0
GPR98	84059	broad.mit.edu	37	5	90124847	90124847	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:90124847G>T	ENST00000405460.2	+	77	16551	c.16455G>T	c.(16453-16455)caG>caT	p.Q5485H	GPR98_ENST00000425867.2_Missense_Mutation_p.Q1146H	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5485					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATTCGCACAGATTAAAATCT	0.418000													6	126					8.12818e-05	0.000104294	0.248553	1	0
PDGFRA	5156	broad.mit.edu	37	4	55152062	55152062	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:55152062G>A	ENST00000257290.5	+	18	2825	c.2494G>A	c.(2494-2496)Gtg>Atg	p.V832M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.V592M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	832	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAAAAATTGTGAAGATCTG	0.507000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			16	198					0	0	0.539581	0	0
HFM1	164045	broad.mit.edu	37	1	91844620	91844620	+	Splice_Site	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:91844620T>A	ENST00000370425.3	-	9	1256	c.1158_splice	c.e9+1	p.P386_splice	HFM1_ENST00000370424.3_Splice_Site_p.P65_splice|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	386	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAATACCTACTGGAGTTGTCA	0.264000													5	53					0	0	0.217242	0	0
DSCAM	1826	broad.mit.edu	37	21	41725391	41725391	+	Splice_Site	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:41725391C>A	ENST00000400454.1	-	5	1412		c.e5+1			NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						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)				GTCCAACTTACGTTTCACGTA	0.473000													6	221					0.00307968	0.0035289	0.278610	1	0
SSPO	23145	broad.mit.edu	37	7	149520510	149520510	+	RNA	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:149520510A>T	ENST00000378016.2	+	0	13328							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGCCACACACCTGAGCCAT	0.652000													5	142					0	0	0.184627	0	0
COL9A1	1297	broad.mit.edu	37	6	70952384	70952384	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:70952384G>C	ENST00000357250.6	-	29	2065	c.1907C>G	c.(1906-1908)cCa>cGa	p.P636R	COL9A1_ENST00000370499.4_Missense_Mutation_p.P393R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.P393R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	636	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGTAGGCCTGGGGATCCCAC	0.353000													9	119					0	0	0.411799	0	0
BNC2	54796	broad.mit.edu	37	9	16436597	16436597	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:16436597G>C	ENST00000380672.4	-	6	1652	c.1595C>G	c.(1594-1596)aCa>aGa	p.T532R	BNC2_ENST00000380666.2_Missense_Mutation_p.T532R|BNC2_ENST00000545497.1_Missense_Mutation_p.T437R|BNC2_ENST00000380667.2_Missense_Mutation_p.T465R	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCCAGGGCTTGTGAGTGCCAG	0.493000													4	121					0	0	0.150653	0	0
VAV2	7410	broad.mit.edu	37	9	136649542	136649542	+	Splice_Site	SNP	T	T	G	rs72154321		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:136649542T>G	ENST00000371851.1	-	16	1828		c.e16-2		VAV2_ENST00000371850.3_Splice_Site|VAV2_ENST00000406606.3_Splice_Site			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor						angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATGTTTGACCTGGCAGGAGGG	0.557000													10	116					0	0	0.387290	0	0
RNF150	57484	broad.mit.edu	37	4	141847205	141847205	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:141847205C>G	ENST00000306799.3	-	5	1440	c.787G>C	c.(787-789)Gtt>Ctt	p.V263L	RNF150_ENST00000515673.1_Missense_Mutation_p.V305L|RNF150_ENST00000507500.1_Missense_Mutation_p.V305L|RNF150_ENST00000379512.2_Missense_Mutation_p.V164L|RNF150_ENST00000420921.2_Missense_Mutation_p.V164L	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	305						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CAGGGGTCAACACAGGACTTG	0.522000													4	89					0	0	0.184627	0	0
ZMYND11	10771	broad.mit.edu	37	10	294403	294403	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:294403A>G	ENST00000397962.3	+	13	1783	c.1355A>G	c.(1354-1356)cAt>cGt	p.H452R	ZMYND11_ENST00000602682.1_Missense_Mutation_p.H367R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.H358R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.H412R|ZMYND11_ENST00000402736.1_Missense_Mutation_p.H421R|ZMYND11_ENST00000509513.2_Missense_Mutation_p.H451R|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000535374.1_Missense_Mutation_p.H247R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.H372R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.H412R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.H452R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.H332R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.H412R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.H452R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.H435R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.H367R			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	412	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAATGCTGCATCGGAGCACC	0.493000													5	107					0	0	0.217242	0	0
TLR7	51284	broad.mit.edu	37	X	12904876	12904876	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:12904876T>G	ENST00000380659.3	+	3	1388	c.1249T>G	c.(1249-1251)Ttt>Gtt	p.F417V		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	417					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CCTCAGCATGTTTAAACAATT	0.338000													14	134					0	0	0.479597	0	0
ESRRG	2104	broad.mit.edu	37	1	216850751	216850751	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:216850751C>A	ENST00000391890.3	-	4	587	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	ESRRG_ENST00000361395.2_Missense_Mutation_p.A24S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A24S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A24S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A24S|ESRRG_ENST00000366937.1_Missense_Mutation_p.A52S|ESRRG_ENST00000463665.1_Missense_Mutation_p.A24S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A24S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A24S|ESRRG_ENST00000366938.2_Missense_Mutation_p.A24S|ESRRG_ENST00000408911.3_Missense_Mutation_p.A47S|ESRRG_ENST00000361525.3_Missense_Mutation_p.A24S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A24S	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	47					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GTCAGGGAGGCTGGGCTGGAA	0.527000													5	76					0.000602214	0.000727804	0.184627	1	0
KLRC1	3821	broad.mit.edu	37	12	10599187	10599187	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:10599187C>A	ENST00000544822.1	-	8	1052	c.665G>T	c.(664-666)gGa>gTa	p.G222V	KLRC1_ENST00000408006.3_Missense_Mutation_p.G204V|KLRC1_ENST00000359151.3_Missense_Mutation_p.G222V|KLRC1_ENST00000347831.5_Missense_Mutation_p.G204V|KLRC1_ENST00000536188.1_Missense_Mutation_p.G222V	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	222	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TATTGAAGATCCACACTGGGC	0.318000													12	187					4.93089e-13	9.422e-13	0.457914	1	0
SLC1A2	6506	broad.mit.edu	37	11	35336634	35336634	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:35336634C>A	ENST00000278379.3	-	3	528	c.246G>T	c.(244-246)ggG>ggT	p.G82G	SLC1A2_ENST00000395753.1_Silent_p.G73G|SLC1A2_ENST00000606205.1_Silent_p.G82G|SLC1A2_ENST00000395750.1_Silent_p.G73G	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	82					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TGAGTATATCCCCTGGGAAGG	0.483000													5	129					0.00116845	0.00136997	0.217242	1	0
COL25A1	84570	broad.mit.edu	37	4	109861697	109861697	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:109861697G>T	ENST00000399132.1	-	10	1200	c.670C>A	c.(670-672)Ccc>Acc	p.P224T	COL25A1_ENST00000399127.1_Missense_Mutation_p.P220T|COL25A1_ENST00000399126.1_Missense_Mutation_p.P224T	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	224	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CGACTCACGGGTACTCCTGGC	0.597000													8	150					0.435327	0.445407	0.435327	1	0
DENND2A	27147	broad.mit.edu	37	7	140301465	140301465	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:140301465G>T	ENST00000275884.6	-	2	1150	c.733C>A	c.(733-735)Cgg>Agg	p.R245R	DENND2A_ENST00000537639.1_Silent_p.R245R|DENND2A_ENST00000496613.1_Silent_p.R245R|DENND2A_ENST00000492720.1_Silent_p.R245R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	245										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCAAGGCTCCGGTCCCAGGGC	0.602000													14	240					0.00244969	0.00283459	0.457914	1	0
TPM3	7170	broad.mit.edu	37	1	154142943	154142943	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:154142943T>C	ENST00000368533.3	-	7	649	c.597A>G	c.(595-597)gcA>gcG	p.A199A	TPM3_ENST00000302206.5_Silent_p.A109A|TPM3_ENST00000271850.7_Silent_p.A236A|TPM3_ENST00000341372.3_Silent_p.A174A|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368530.2_Silent_p.A236A|TPM3_ENST00000368531.2_Silent_p.A199A|TPM3_ENST00000341485.5_Silent_p.A183A|TPM3_ENST00000330188.9_Silent_p.A199A|TPM3_ENST00000328159.4_Silent_p.A199A|TPM3_ENST00000323144.7_Silent_p.A199A	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN	tropomyosin 3	235					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CACGGGTCTCTGCCTGGGGGA	0.443000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								24	103					0	0	0.740014	0	0
GPR142	350383	broad.mit.edu	37	17	72368021	72368021	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:72368021G>T	ENST00000335666.4	+	4	719	c.671G>T	c.(670-672)cGc>cTc	p.R224L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	224						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GTGCTGGCCCGCCAGGTGCCC	0.627000													8	63					0.000157383	0.000198342	0.278610	1	0
THEMIS	387357	broad.mit.edu	37	6	128134894	128134894	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:128134894G>T	ENST00000368250.1	-	5	1153	c.655C>A	c.(655-657)Caa>Aaa	p.Q219K	THEMIS_ENST00000543064.1_Missense_Mutation_p.Q298K|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q298K|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q263K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	298	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AAAATGCTTTGGGGCAGGTGG	0.393000													8	121					2.52707e-12	4.68934e-12	0.335167	1	0
SUCLG1	8802	broad.mit.edu	37	2	84668443	84668443	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:84668443T>C	ENST00000393868.2	-	4	669	c.459A>G	c.(457-459)gtA>gtG	p.V153V		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	153					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GCTTGACTCGTACCATGTCCT	0.473000													13	122					0	0	0.500413	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416199	105416199	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:105416199C>A	ENST00000333244.5	-	7	5708	c.5589G>T	c.(5587-5589)caG>caT	p.Q1863H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1863						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAGGTCCCCCTGCATGGAGG	0.657000													14	154					3.27435e-08	5.21389e-08	0.457914	1	0
LRP5	4041	broad.mit.edu	37	11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582000													3	176					0	0	0.150653	0	0
LRIT1	26103	broad.mit.edu	37	10	85992512	85992512	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:85992512G>A	ENST00000372105.3	-	4	1064	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	348						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGAAGTCGGTGGCTCAGTGAC	0.567000													4	32					0	0	0.184627	0	0
FTCD	10841	broad.mit.edu	37	21	47571536	47571536	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:47571536C>A	ENST00000397748.1	-	5	615	c.572G>T	c.(571-573)gGc>gTc	p.G191V	FTCD_ENST00000355384.2_Missense_Mutation_p.G191V|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Missense_Mutation_p.G191V|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.G191V|FTCD_ENST00000359679.2_Missense_Mutation_p.G191V|FTCD_ENST00000397743.1_Missense_Mutation_p.G191V			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	191	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTCCTTTGTGCCGAGCAGGTT	0.652000													10	112					0.000442599	0.000546104	0.335167	1	0
CHRNB2	1141	broad.mit.edu	37	1	154544088	154544088	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:154544088C>T	ENST00000368476.3	+	5	1053	c.789C>T	c.(787-789)ggC>ggT	p.G263G		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	263					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CCGACTGTGGCGAGAAGATGA	0.587000													18	191					0	0	0.539581	0	0
ZNF543	125919	broad.mit.edu	37	19	57839521	57839521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:57839521G>T	ENST00000321545.4	+	4	1036	c.691G>T	c.(691-693)Gag>Tag	p.E231*		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAATGCACAGAGTGTGGGAA	0.458000													7	112					0.00448238	0.00508675	0.307466	1	0
LRRC7	57554	broad.mit.edu	37	1	70504266	70504266	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:70504266C>G	ENST00000310961.5	+	22	3078	c.2660C>G	c.(2659-2661)aCt>aGt	p.T887S	LRRC7_ENST00000035383.5_Missense_Mutation_p.T882S|LRRC7_ENST00000415775.2_Missense_Mutation_p.T166S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	882						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGGAATCTACTGAAATACCT	0.448000													13	155					0	0	0.479597	0	0
MAPT	4137	broad.mit.edu	37	17	44060837	44060837	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:44060837G>T	ENST00000344290.5	+	6	989	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.D223Y|MAPT_ENST00000262410.5_Missense_Mutation_p.D223Y|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.D223Y|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	223					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TGAAGACCGCGACGTCGATGA	0.677000													4	32					1.024e-07	1.60882e-07	0.184627	1	0
LHFP	10186	broad.mit.edu	37	13	39952651	39952651	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:39952651C>T	ENST00000379589.3	-	3	860	c.398G>A	c.(397-399)gGt>gAt	p.G133D		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	133						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		ACAGCCAGCACCAATCAACAA	0.488000			T	HMGA2	lipoma								6	87					0	0	0.248553	0	0
OXR1	55074	broad.mit.edu	37	8	107751701	107751701	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:107751701G>A	ENST00000445937.1	+	12	2233	c.1972G>A	c.(1972-1974)Gac>Aac	p.D658N	OXR1_ENST00000449762.2_Missense_Mutation_p.D28N|OXR1_ENST00000531443.1_Missense_Mutation_p.D658N|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000442977.2_Missense_Mutation_p.D686N|OXR1_ENST00000297447.6_Missense_Mutation_p.D55N|OXR1_ENST00000517566.2_Missense_Mutation_p.D685N|OXR1_ENST00000312046.6_Missense_Mutation_p.D651N|OXR1_ENST00000521592.1_5'UTR	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	686					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TACAAGGGAAGACATAAATTC	0.363000													26	85					0	0	0.740014	0	0
ZNF449	203523	broad.mit.edu	37	X	134494219	134494219	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:134494219G>C	ENST00000339249.4	+	5	915	c.775G>C	c.(775-777)Ggt>Cgt	p.G259R		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	259					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCTCCAGGGTCCCATTTT	0.373000													4	170					0	0	0.184627	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44507231	44507231	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:44507231G>T	ENST00000255152.2	+	2	2243	c.2034G>T	c.(2032-2034)tgG>tgT	p.W678C	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.W672C	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	678							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CTTTCCTCTGGGGAAAGCAAG	0.537000													22	150					8.24728e-16	1.66595e-15	0.681144	1	0
DCTN1	1639	broad.mit.edu	37	2	74593130	74593130	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:74593130G>C	ENST00000361874.3	-	24	3093	c.2776C>G	c.(2776-2778)Ctg>Gtg	p.L926V	DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Missense_Mutation_p.L906V|DCTN1_ENST00000407639.2_Missense_Mutation_p.L792V|DCTN1_ENST00000409868.1_Missense_Mutation_p.L909V|DCTN1_ENST00000394003.3_Missense_Mutation_p.L919V|DCTN1_ENST00000409240.1_Missense_Mutation_p.L889V|DCTN1_ENST00000409438.1_Missense_Mutation_p.L792V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	926					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCAGCCCGCAGTTCAACCGGT	0.512000													6	104					0	0	0.307466	0	0
TGM3	7053	broad.mit.edu	37	20	2320518	2320518	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:2320518G>T	ENST00000381458.5	+	12	1882	c.1819G>T	c.(1819-1821)Gtg>Ttg	p.V607L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	607					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CGAGGCTCGTGTGCGGAAGCC	0.642000													4	60					1.6384e-10	2.85308e-10	0.248553	1	0
ACOT12	134526	broad.mit.edu	37	5	80643712	80643712	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:80643712T>C	ENST00000307624.3	-	6	562	c.534A>G	c.(532-534)acA>acG	p.T178T		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	178	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AGGTGCCCCTTGTGGAAACCG	0.502000													57	438					0	0	0.870114	0	0
OR2G2	81470	broad.mit.edu	37	1	247752190	247752190	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:247752190G>T	ENST00000320065.1	+	1	529	c.529G>T	c.(529-531)Gtg>Ttg	p.V177L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCATCGCCAAGTGGATCATTT	0.552000													15	233					1.67942e-08	2.70466e-08	0.539581	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60345574	60345574	+	RNA	SNP	C	C	T	rs74660978		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:60345574C>T	ENST00000581291.1	-	0	777																				breast(2)|kidney(1)|lung(2)	5						AGCCCCTGGACGGTCCCGCCA	0.567000													42	264					0	0	0.870114	0	0
CD180	4064	broad.mit.edu	37	5	66479359	66479359	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:66479359G>T	ENST00000256447.4	-	3	1469	c.1312C>A	c.(1312-1314)Caa>Aaa	p.Q438K		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	438					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AAGGGACTTTGTGGAGCATTA	0.463000													22	186					6.32553e-13	1.20543e-12	0.681144	1	0
DPYS	1807	broad.mit.edu	37	8	105456570	105456570	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:105456570G>T	ENST00000351513.2	-	4	831	c.699C>A	c.(697-699)gcC>gcA	p.A233A		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	233					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTATGGTGATGGCTCTCAGCG	0.552000													10	68					1.33987e-11	2.42273e-11	0.361761	1	0
DAB1	1600	broad.mit.edu	37	1	57480714	57480714	+	Missense_Mutation	SNP	C	C	A	rs144347021		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:57480714C>A	ENST00000371236.2	-	12	1549	c.1286G>T	c.(1285-1287)cGc>cTc	p.R429L	DAB1_ENST00000420954.2_Missense_Mutation_p.R427L|DAB1_ENST00000371234.4_Missense_Mutation_p.R429L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.R411L|DAB1_ENST00000371231.1_Missense_Mutation_p.R462L|DAB1_ENST00000439789.2_Missense_Mutation_p.R343L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	462					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTCGGGTTTGCGGGAGGGCAC	0.562000													4	79					3.59834e-05	4.80912e-05	0.217242	1	0
GPR150	285601	broad.mit.edu	37	5	94956165	94956165	+	Silent	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:94956165A>T	ENST00000380007.2	+	1	384	c.186A>T	c.(184-186)acA>acT	p.T62T		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	62						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GCAACACCACAGTGCTGTGCC	0.731000													4	14					0	0	0.184627	0	0
TCP11	6954	broad.mit.edu	37	6	35087018	35087018	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:35087018G>A	ENST00000311875.5	-	9	1722	c.1305C>T	c.(1303-1305)gtC>gtT	p.V435V	TCP11_ENST00000373974.4_Silent_p.V389V|TCP11_ENST00000512012.1_Silent_p.V422V|TCP11_ENST00000244645.3_Silent_p.V360V|TCP11_ENST00000444780.2_Silent_p.V430V|TCP11_ENST00000418521.2_Silent_p.V359V|TCP11_ENST00000373979.2_Silent_p.V360V|TCP11_ENST00000412155.2_Silent_p.V384V			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	422					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TAACACTGCAGACACAGTTCT	0.453000													14	286					0	0	0.539581	0	0
FFAR1	2864	broad.mit.edu	37	19	35842536	35842536	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:35842536C>G	ENST00000246553.2	+	1	92	c.82C>G	c.(82-84)Cga>Gga	p.R28G		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	28					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCTGGCCATCCGAGGCGCGAC	0.701000													2	5					0	0	0.115264	0	0
CPSF6	11052	broad.mit.edu	37	12	69651550	69651550	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:69651550G>T	ENST00000435070.2	+	5	669	c.559G>T	c.(559-561)Ggt>Tgt	p.G187C	CPSF6_ENST00000266679.8_Missense_Mutation_p.G187C|CPSF6_ENST00000456847.3_Missense_Mutation_p.G187C|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	187					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGGTAAAGCTGGTCCTCCAGG	0.478000													14	182					6.49762e-13	1.2349e-12	0.539581	1	0
ZNF793	390927	broad.mit.edu	37	19	38028084	38028084	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:38028084G>C	ENST00000445217.1	+	4	559	c.524G>C	c.(523-525)cGt>cCt	p.R175P	ZNF793_ENST00000587143.1_Missense_Mutation_p.R175P|ZNF793_ENST00000542455.1_Missense_Mutation_p.R175P|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGCTTCAGCGTATAAATCAT	0.408000													3	24					0	0	0.115264	0	0
USP11	8237	broad.mit.edu	37	X	47104297	47104297	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:47104297G>C	ENST00000377107.2	+	15	2414	c.2060G>C	c.(2059-2061)cGc>cCc	p.R687P	USP11_ENST00000218348.3_Missense_Mutation_p.R730P			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	730					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ACCAGCGACCGCACAACCTCC	0.592000													9	94					0	0	0.361761	0	0
MYH9	4627	broad.mit.edu	37	22	36696961	36696961	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr22:36696961T>A	ENST00000216181.5	-	22	3004	c.2774A>T	c.(2773-2775)gAg>gTg	p.E925V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	925					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCCTCCTCCTCCACCCTGGC	0.647000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	147					0	0	0.248553	0	0
USH2A	7399	broad.mit.edu	37	1	215901645	215901645	+	Silent	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:215901645G>C	ENST00000366943.2	-	61	12179	c.11793C>G	c.(11791-11793)acC>acG	p.T3931T	USH2A_ENST00000307340.3_Silent_p.T3931T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3931	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGGCCTCAGGGTGTCTCCTT	0.488000										HNSCC(13;0.011)			10	91					0	0	0.479597	0	0
SYPL1	6856	broad.mit.edu	37	7	105739719	105739719	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:105739719T>C	ENST00000455385.2	-	2	201	c.79A>G	c.(79-81)Atc>Gtc	p.I27V	SYPL1_ENST00000470347.1_Missense_Mutation_p.I27V|SYPL1_ENST00000011473.2_Missense_Mutation_p.I45V	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	45					synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						AAAGCAAAGATAGAAGCAATC	0.358000													9	58					0	0	0.361761	0	0
JAK2	3717	broad.mit.edu	37	9	5089707	5089707	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:5089707G>A	ENST00000381652.3	+	20	3099	c.2605G>A	c.(2605-2607)Gac>Aac	p.D869N	JAK2_ENST00000544510.1_Missense_Mutation_p.D720N|JAK2_ENST00000539801.1_Missense_Mutation_p.D869N	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	869	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GTGCCGGTATGACCCTCTACA	0.398000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				16	146					0	0	0.592651	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094948	143094948	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:143094948C>A	ENST00000367603.2	-	5	1670	c.928G>T	c.(928-930)Ggc>Tgc	p.G310C	HIVEP2_ENST00000367604.1_Missense_Mutation_p.G310C|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G310C	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCATGATAGCCGCCTCTGCTG	0.478000													7	74					2.52707e-12	4.68934e-12	0.335167	1	0
ITGBL1	9358	broad.mit.edu	37	13	102359164	102359164	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:102359164C>G	ENST00000376180.3	+	9	1410	c.1191C>G	c.(1189-1191)ctC>ctG	p.L397L	ITGBL1_ENST00000376162.3_Silent_p.L304L|ITGBL1_ENST00000545560.2_Silent_p.L256L	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	397	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGGAAAGCTCTGCCAACATC	0.498000													8	90					0	0	0.307466	0	0
PLK1	5347	broad.mit.edu	37	16	23695252	23695252	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:23695252G>A	ENST00000300093.4	+	5	989	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	293	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCCACTGCCCGCCCAACCATT	0.547000													30	610					0	0	0.779181	0	0
NXF5	55998	broad.mit.edu	37	X	101092546	101092546	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:101092546C>A	ENST00000537026.1	-	15	1359	c.1000G>T	c.(1000-1002)Gac>Tac	p.D334Y	NXF5_ENST00000361708.2_Missense_Mutation_p.D334Y|NXF5_ENST00000473265.2_Missense_Mutation_p.D334Y	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	334	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GAGGTGAAGTCATGCTGAGTT	0.542000													13	193					2.31682e-05	3.13792e-05	0.479597	1	0
TAS2R30	259293	broad.mit.edu	37	12	11286103	11286103	+	Silent	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:11286103T>A	ENST00000539585.1	-	1	1140	c.741A>T	c.(739-741)atA>atT	p.I247I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TACAAACTGATATGATCATGG	0.413000													12	156					0	0	0.387290	0	0
DSG1	1828	broad.mit.edu	37	18	28935132	28935132	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr18:28935132G>T	ENST00000257192.4	+	15	3185	c.2973G>T	c.(2971-2973)ctG>ctT	p.L991L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Silent_p.L350L	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	991	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCGGTGCCCTGAGTGGAGCTG	0.597000													5	61					0.000602214	0.000727804	0.184627	1	0
RIMS2	9699	broad.mit.edu	37	8	104987670	104987670	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:104987670C>T	ENST00000507740.1	+	13	2475	c.2239C>T	c.(2239-2241)Cct>Tct	p.P747S	RIMS2_ENST00000262231.10_Missense_Mutation_p.P794S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P733S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P955S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1017	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATCAGGGTCTCCTCATCGAGT	0.423000										HNSCC(12;0.0054)			12	87					0	0	0.435327	0	0
RAD23B	5887	broad.mit.edu	37	9	110084315	110084315	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:110084315G>T	ENST00000358015.3	+	7	1084	c.733G>T	c.(733-735)Gct>Tct	p.A245S	RAD23B_ENST00000416373.2_Missense_Mutation_p.A173S	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	245					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTCAAGCAGCTAGTACTGG	0.468000								Direct reversal of damage;Nucleotide excision repair (NER)					4	55					0.00909568	0.0100636	0.150653	1	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555000	22555000	+	RNA	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:22555000G>T	ENST00000390451.2	+	0	171																											TGATAGTCCAGAAAGGAGGGA	0.428000													3	42					0.004672	0.00527652	0.115264	1	0
RAB39B	116442	broad.mit.edu	37	X	154490358	154490358	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:154490358C>A	ENST00000369454.3	-	2	672	c.372G>T	c.(370-372)aaG>aaT	p.K124N		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	124					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGTCACACTTGTGACCCA	0.507000													7	257					0.00448238	0.00508675	0.307466	1	0
RNF152	220441	broad.mit.edu	37	18	59483159	59483159	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr18:59483159C>A	ENST00000312828.3	-	2	1637	c.538G>T	c.(538-540)Gtc>Ttc	p.V180F		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	180					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGGAGGAAGACCAAGACGCAA	0.582000													5	154					0.000602214	0.000727804	0.184627	1	0
FREM2	341640	broad.mit.edu	37	13	39424180	39424180	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:39424180A>G	ENST00000280481.7	+	9	6601	c.6385A>G	c.(6385-6387)Aag>Gag	p.K2129E	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2129	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCAGTGCCTAAGATGCAATT	0.378000													10	87					0	0	0.387290	0	0
C7orf62	219557	broad.mit.edu	37	7	88424219	88424219	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:88424219C>A	ENST00000297203.2	-	2	223	c.38G>T	c.(37-39)aGg>aTg	p.R13M	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	13										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGGCAAAGGCCTTTTGCTGCC	0.403000													15	86					5.03518e-11	8.96694e-11	0.557998	1	0
ADAM23	8745	broad.mit.edu	37	2	207437889	207437889	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:207437889T>C	ENST00000264377.3	+	18	2035	c.1707T>C	c.(1705-1707)atT>atC	p.I569I	ADAM23_ENST00000374416.1_Silent_p.I569I|ADAM23_ENST00000374415.3_Silent_p.I569I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	569	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGTGTGATATTACTGAATATT	0.388000													15	349					0	0	0.592651	0	0
WDR53	348793	broad.mit.edu	37	3	196281164	196281164	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:196281164C>A	ENST00000332629.5	-	4	1562	c.995G>T	c.(994-996)gGt>gTt	p.G332V	WDR53_ENST00000433160.1_Missense_Mutation_p.G173V|WDR53_ENST00000429115.1_Missense_Mutation_p.G171V	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	332										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TATTTTTGTACCCAAGAGCCA	0.328000													13	175					9.31168e-06	1.29594e-05	0.435327	1	0
DLGAP2	9228	broad.mit.edu	37	8	1581027	1581027	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:1581027C>T	ENST00000421627.2	+	5	1519	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	541					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S506Y(2)|p.S484Y(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAATTCGAGTCCGTGTGCGAG	0.567000													6	43					0	0	0.278610	0	0
NCR2	9436	broad.mit.edu	37	6	41309601	41309601	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:41309601G>A	ENST00000373083.4	+	3	686	c.464G>A	c.(463-465)tGt>tAt	p.C155Y	NCR2_ENST00000373086.3_Missense_Mutation_p.C155Y|NCR2_ENST00000373089.5_Missense_Mutation_p.C155Y	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	155					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACCCAGAGCTGTGTGCCTCCC	0.617000													16	93					0	0	0.539581	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719771	140719771	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:140719771C>A	ENST00000394576.2	+	1	1233	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCCTTGACAGGGAACAGT	0.478000													7	56					7.48243e-07	1.12316e-06	0.335167	1	0
CPNE3	8895	broad.mit.edu	37	8	87570548	87570548	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:87570548G>T	ENST00000521271.1	+	17	1686	c.1524G>T	c.(1522-1524)ttG>ttT	p.L508F	CPNE3_ENST00000198765.4_Missense_Mutation_p.L508F	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	508	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTGTGTCTTGGCAGAGATTC	0.428000													5	126					0.0215528	0.0232284	0.217242	1	0
ERBB4	2066	broad.mit.edu	37	2	212426710	212426710	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:212426710C>A	ENST00000342788.4	-	20	2715	c.2405G>T	c.(2404-2406)gGc>gTc	p.G802V	ERBB4_ENST00000402597.1_Missense_Mutation_p.G792V|ERBB4_ENST00000436443.1_Missense_Mutation_p.G802V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	802	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAACAGGCAGCCATGGGGCAT	0.498000										TSP Lung(8;0.080)			9	200					0.000442599	0.000546104	0.335167	1	0
PRKCG	5582	broad.mit.edu	37	19	54406390	54406390	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:54406390G>A	ENST00000263431.3	+	15	1921	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	PRKCG_ENST00000542049.1_Missense_Mutation_p.E434K|PRKCG_ENST00000540413.1_Missense_Mutation_p.E547K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	547	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TCTGCTGTATGAGATGTTGGC	0.537000													5	342					0	0	0.217242	0	0
ROR2	4920	broad.mit.edu	37	9	94487238	94487238	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:94487238G>T	ENST00000375708.3	-	9	1736	c.1538C>A	c.(1537-1539)gCg>gAg	p.A513E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.A373E	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	513	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCCCCTCCGCTTTGTCCTT	0.642000													13	169					7.93312e-07	1.18078e-06	0.457914	1	0
UBE2Q2	92912	broad.mit.edu	37	15	76168529	76168529	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:76168529G>T	ENST00000267938.4	+	6	972	c.588_splice	c.e6-1	p.G197_splice	UBE2Q2_ENST00000338677.4_Splice_Site_p.G197_splice|UBE2Q2_ENST00000561851.1_Splice_Site_p.G181_splice|UBE2Q2_ENST00000569423.1_Splice_Site_p.G162_splice	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	197					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						GTGTTTCAGGGTGCAGTGTCT	0.413000													26	293					2.09667e-21	4.38563e-21	0.788014	1	0
PKD1	5310	broad.mit.edu	37	16	2156019	2156019	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:2156019C>A	ENST00000262304.4	-	20	7918	c.7710G>T	c.(7708-7710)ttG>ttT	p.L2570F	PKD1_ENST00000423118.1_Missense_Mutation_p.L2570F|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2570	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGTGATGGCCAAAGACCTAC	0.701000													5	55					2.0095e-06	2.88763e-06	0.248553	1	0
BPIFA1	51297	broad.mit.edu	37	20	31829251	31829251	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:31829251C>G	ENST00000354297.4	+	6	713	c.642C>G	c.(640-642)gtC>gtG	p.V214V	BPIFA1_ENST00000375422.2_Silent_p.V214V|BPIFA1_ENST00000375413.4_Silent_p.V214V	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	214					innate immune response	extracellular region	lipid binding										TGAATAAAGTCCTGCCTGAGT	0.512000													8	327					0	0	0.335167	0	0
PPFIA4	8497	broad.mit.edu	37	1	203032955	203032955	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:203032955G>T	ENST00000367240.2	+	24	3338		c.e24-1		PPFIA4_ENST00000272198.6_Splice_Site|PPFIA4_ENST00000599966.1_Splice_Site|PPFIA4_ENST00000295706.4_Splice_Site|PPFIA4_ENST00000447715.2_Splice_Site|PPFIA4_ENST00000414050.2_Splice_Site			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4						cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CATTTCCCTAGACCCTGGCCT	0.567000													9	136					7.48243e-07	1.12316e-06	0.335167	1	0
VPS13D	55187	broad.mit.edu	37	1	12343698	12343698	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:12343698C>A	ENST00000358136.3	+	21	5669	c.5539C>A	c.(5539-5541)Cct>Act	p.P1847T	VPS13D_ENST00000356315.4_Missense_Mutation_p.P1847T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1847					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATGAGGCTGCCTCCTGAGGG	0.488000													13	129					7.93312e-07	1.18078e-06	0.457914	1	0
LTBP1	4052	broad.mit.edu	37	2	33534500	33534500	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:33534500G>T	ENST00000404816.2	+	23	3834		c.e23-1		LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000498013.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000404525.1_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTGGTTTTTAGATATCAATGA	0.328000													14	72					1.15088e-07	1.76501e-07	0.500413	1	0
SIRPA	140885	broad.mit.edu	37	20	1902148	1902148	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:1902148C>A	ENST00000358771.4	+	3	696	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	SIRPA_ENST00000356025.3_Missense_Mutation_p.L182M|SIRPA_ENST00000400068.3_Missense_Mutation_p.L182M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	182	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGACATCACCCTGAAATGGTT	0.592000													5	110					0.00448238	0.00508675	0.307466	1	0
CLCA1	1179	broad.mit.edu	37	1	86960043	86960043	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:86960043C>A	ENST00000234701.3	+	12	2205	c.1854C>A	c.(1852-1854)gcC>gcA	p.A618A	CLCA1_ENST00000394711.1_Silent_p.A618A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	618					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCCAAGGAGCCTCCCCAATTC	0.473000													7	44					8.12818e-05	0.000104294	0.248553	1	0
WNK1	65125	broad.mit.edu	37	12	977168	977168	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:977168G>T	ENST00000537687.1	+	9	2919	c.2276G>T	c.(2275-2277)cGg>cTg	p.R759L	WNK1_ENST00000530271.2_Missense_Mutation_p.R844L|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.R58L|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	762					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATTTCCCAGCGGCGTAAGAGC	0.517000													4	135					0.150653	0.156866	0.150653	1	0
ITIH6	347365	broad.mit.edu	37	X	54777684	54777684	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:54777684C>A	ENST00000218436.6	-	12	3511	c.3482G>T	c.(3481-3483)cGc>cTc	p.R1161L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1161					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TATAGAACTGCGGCTGATGGT	0.587000													12	72					6.72482e-11	1.18861e-10	0.479597	1	0
IRX2	153572	broad.mit.edu	37	5	2749646	2749646	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:2749646G>A	ENST00000382611.6	-	2	753	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	IRX2_ENST00000302057.5_Missense_Mutation_p.R169C|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R169C(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		AGGCGCCGGCGCGCGTTGGCG	0.597000													12	155					0	0	0.457914	0	0
NOL11	25926	broad.mit.edu	37	17	65733689	65733689	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:65733689C>G	ENST00000253247.4	+	12	1399	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E	NOL11_ENST00000535137.1_Missense_Mutation_p.D246E	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	428						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGACACCTGACTTTCATACTG	0.408000													22	152					0	0	0.693898	0	0
MDGA1	266727	broad.mit.edu	37	6	37617941	37617941	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:37617941C>T	ENST00000434837.2	-	8	2731	c.1553G>A	c.(1552-1554)cGc>cAc	p.R518H	MDGA1_ENST00000297153.7_Missense_Mutation_p.R518H|MDGA1_ENST00000505425.1_Missense_Mutation_p.R518H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	518	Ig-like 5.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCCATTATAGCGGGCCGTCTG	0.667000													9	96					0	0	0.335167	0	0
AFF2	2334	broad.mit.edu	37	X	148068913	148068913	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:148068913G>T	ENST00000370460.2	+	20	4119	c.3640G>T	c.(3640-3642)Gtg>Ttg	p.V1214L	AFF2_ENST00000286437.5_Missense_Mutation_p.V855L|AFF2_ENST00000342251.3_Missense_Mutation_p.V1181L|AFF2_ENST00000370457.5_Missense_Mutation_p.V1179L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1214					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCCATCCCCAGTGTCTCTCAA	0.552000													13	186					6.31663e-08	9.96843e-08	0.479597	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955703	18955703	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:18955703G>T	ENST00000302797.3	-	1	853	c.629C>A	c.(628-630)cCg>cAg	p.P210Q	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	210					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGGTCAGCGGTATCTTCCG	0.507000													4	183					0.150653	0.156866	0.150653	1	0
NF1	4763	broad.mit.edu	37	17	29557872	29557872	+	Silent	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:29557872A>G	ENST00000358273.4	+	24	3509	c.3126A>G	c.(3124-3126)gtA>gtG	p.V1042V	NF1_ENST00000356175.3_Silent_p.V1042V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1042					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.V1042fs*17(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAAGATGGTAGAATACCTGA	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	49					0	0	0.150653	0	0
GPCPD1	56261	broad.mit.edu	37	20	5528360	5528360	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:5528360C>G	ENST00000379019.4	-	20	2178	c.1966G>C	c.(1966-1968)Gag>Cag	p.E656Q	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	656					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATATCAGACTCCCCACACAAA	0.498000													15	192					0	0	0.500413	0	0
SCFD1	23256	broad.mit.edu	37	14	31112531	31112531	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:31112531G>T	ENST00000458591.2	+	7	760	c.533G>T	c.(532-534)aGg>aTg	p.R178M	SCFD1_ENST00000396629.2_Missense_Mutation_p.R86M|SCFD1_ENST00000544052.2_Missense_Mutation_p.R111M|SCFD1_ENST00000421551.3_Missense_Mutation_p.R119M|SCFD1_ENST00000541123.1_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	178					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GCCATTAACAGGCCAGATATC	0.353000													15	150					2.94398e-08	4.70904e-08	0.557998	1	0
FGF9	2254	broad.mit.edu	37	13	22246295	22246295	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:22246295A>G	ENST00000382353.5	+	1	774	c.244A>G	c.(244-246)Atc>Gtc	p.I82V		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	82					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CAATGGTACTATCCAGGGAAC	0.453000													6	110					0	0	0.248553	0	0
WDR64	128025	broad.mit.edu	37	1	241886637	241886637	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:241886637A>G	ENST00000366552.2	+	9	1270	c.1063A>G	c.(1063-1065)Agc>Ggc	p.S355G	WDR64_ENST00000437684.2_Missense_Mutation_p.S355G	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	355										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CCCCAATATCAGCACCAAGCC	0.453000													14	92					0	0	0.520397	0	0
DMD	1756	broad.mit.edu	37	X	32486791	32486791	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:32486791G>A	ENST00000357033.4	-	23	3192	c.2986C>T	c.(2986-2988)Cta>Tta	p.L996L	DMD_ENST00000378677.2_Silent_p.L992L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	996					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGATAGTATAGGCCACTTTGT	0.358000													4	79					0	0	0.150653	0	0
ANK2	287	broad.mit.edu	37	4	114279580	114279580	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:114279580G>A	ENST00000357077.4	+	38	9859	c.9806G>A	c.(9805-9807)aGg>aAg	p.R3269K	ANK2_ENST00000264366.6_Missense_Mutation_p.R3236K|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3236					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATTCAGATAGGGGTGATGAT	0.453000													7	169					0	0	0.307466	0	0
PRDM9	56979	broad.mit.edu	37	5	23522894	23522894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:23522894G>A	ENST00000296682.3	+	8	964	c.782G>A	c.(781-783)tGg>tAg	p.W261*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	261	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTGGAGTATGGAATGAGGCA	0.582000										HNSCC(3;0.000094)			5	86					0	0	0.217242	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605233	37605233	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:37605233G>T	ENST00000399151.3	+	15	2567	c.2482G>T	c.(2482-2484)Gcg>Tcg	p.A828S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	828					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCAGTCCCTGGCGCTTGTCAT	0.502000													7	102					1.06961e-07	1.65474e-07	0.278610	1	0
SLC5A4	6527	broad.mit.edu	37	22	32625228	32625228	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr22:32625228G>A	ENST00000266086.4	-	11	1244	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	411					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.T411T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCGCATCTTGGTGTAGAGGT	0.552000													20	179					0	0	0.667858	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086964	39086964	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:39086964C>G	ENST00000400482.3	-	3	1085	c.496G>C	c.(496-498)Gag>Cag	p.E166Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E166Q	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	166					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATAATTCCCTCTGGGCATTTA	0.423000													5	104					0	0	0.184627	0	0
DLG2	1740	broad.mit.edu	37	11	83195246	83195246	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:83195246C>A	ENST00000398309.2	-	17	2374	c.1904G>T	c.(1903-1905)aGc>aTc	p.S635I	DLG2_ENST00000398304.1_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.S674I|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.S602I|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000543673.1_Missense_Mutation_p.S740I|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.S740I	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	635						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AAAGATGAAGCTCTTTTTACG	0.413000													9	110					6.40141e-05	8.38111e-05	0.387290	1	0
MUC16	94025	broad.mit.edu	37	19	9064371	9064371	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:9064371G>A	ENST00000397910.4	-	3	23278	c.23075C>T	c.(23074-23076)tCt>tTt	p.S7692F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7694	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCAGGTAAAGACAGCGGGGA	0.577000													6	83					0	0	0.248553	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956744	33956744	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:33956744C>T	ENST00000361328.3	+	6	1039	c.886C>T	c.(886-888)Cca>Tca	p.P296S	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.P242S	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	296					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGATAATGAGCCAGCTCAGGC	0.488000													7	79					0	0	0.278610	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068624	103068624	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:103068624C>A	ENST00000264260.2	+	12	2372	c.1783C>A	c.(1783-1785)Cag>Aag	p.Q595K	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Q453K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	595					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GAGGAGCTCCCAGCCTAAGGA	0.507000													10	134					1.58986e-06	2.32719e-06	0.361761	1	0
ATP2B3	492	broad.mit.edu	37	X	152806815	152806815	+	Splice_Site	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:152806815A>T	ENST00000370186.1	+	3	534		c.e3-1		ATP2B3_ENST00000349466.2_Splice_Site|ATP2B3_ENST00000393842.1_Splice_Site|ATP2B3_ENST00000359149.3_Splice_Site|ATP2B3_ENST00000263519.4_Splice_Site|ATP2B3_ENST00000370181.2_Splice_Site			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3						ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCACCATGCAGGCCTGGCGG	0.622000													7	96					0	0	0.335167	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179355435	179355435	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:179355435G>T	ENST00000234453.4	+	3	609	c.207G>T	c.(205-207)caG>caT	p.Q69H	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	69	PH.					cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CTGGAGAGCAGCATTTCTACA	0.403000													4	80					0.00909568	0.0100636	0.150653	1	0
PREB	10113	broad.mit.edu	37	2	27354558	27354558	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:27354558G>A	ENST00000260643.2	-	8	1394	c.1141C>T	c.(1141-1143)Cat>Tat	p.H381Y	PREB_ENST00000406567.3_Missense_Mutation_p.H323Y	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	381					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAACAGATGCAGCTGGCAA	0.602000													19	166					0	0	0.608945	0	0
CDH8	1006	broad.mit.edu	37	16	61689569	61689569	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:61689569C>A	ENST00000577390.1	-	11	2665	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	CDH8_ENST00000577730.1_Missense_Mutation_p.V571F|CDH8_ENST00000299345.6_Missense_Mutation_p.V571F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	571	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AAAAGATAGACTTCTTGCTTC	0.388000													5	84					3.59834e-05	4.80912e-05	0.217242	1	0
F10	2159	broad.mit.edu	37	13	113803614	113803614	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:113803614G>T	ENST00000375559.3	+	8	1288	c.1250G>T	c.(1249-1251)gGg>gTg	p.G417V	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	417	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGCCAGGGGGACAGCGGG	0.622000													10	137					1.33987e-11	2.42273e-11	0.361761	1	0
C1orf173	127254	broad.mit.edu	37	1	75038003	75038003	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:75038003G>T	ENST00000326665.5	-	14	3609	c.3391C>A	c.(3391-3393)Cct>Act	p.P1131T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1131	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCCTCCACAGGTGCTTCGTTC	0.463000													8	60					2.17888e-05	2.95675e-05	0.335167	1	0
CBLB	868	broad.mit.edu	37	3	105400429	105400429	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:105400429A>T	ENST00000264122.4	-	16	2643	c.2322T>A	c.(2320-2322)gaT>gaA	p.D774E	CBLB_ENST00000394027.3_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.D774E|CBLB_ENST00000407712.1_Intron|CBLB_ENST00000403724.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	774	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATGGCACGGGATCAGAGGCTG	0.433000			Mis S		AML								4	111					0	0	0.184627	0	0
ZNF536	9745	broad.mit.edu	37	19	31039421	31039421	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:31039421G>T	ENST00000355537.3	+	4	3042	c.2895G>T	c.(2893-2895)caG>caT	p.Q965H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	965					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTCCTCCCAGAGGAAGTCCG	0.582000													23	256					3.6726e-16	7.48279e-16	0.667858	1	0
AAAS	8086	broad.mit.edu	37	12	53715132	53715132	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:53715132C>A	ENST00000209873.4	-	1	283	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	AAAS_ENST00000394384.3_Missense_Mutation_p.G40C|AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	40					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GCCACCTGGCCCCGGAAGTCG	0.657000													13	210					3.27435e-08	5.21389e-08	0.457914	1	0
IL3	3562	broad.mit.edu	37	5	131398393	131398393	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:131398393G>T	ENST00000296870.2	+	5	546	c.368G>T	c.(367-369)tGg>tTg	p.W123L		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	123					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GACGGTGACTGGAATGAATTC	0.483000											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	125					4.96729e-08	7.89185e-08	0.575678	1	0
STK31	56164	broad.mit.edu	37	7	23802461	23802461	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:23802461G>T	ENST00000354639.3	+	11	1730	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	STK31_ENST00000355870.3_Missense_Mutation_p.Q445H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.Q445H|STK31_ENST00000428484.1_Missense_Mutation_p.Q422H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	445							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGAAATGCAGCAGAAGCTGT	0.333000													14	129					0.00400662	0.00457623	0.500413	1	0
CNGB3	54714	broad.mit.edu	37	8	87738841	87738841	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:87738841G>T	ENST00000320005.5	-	3	303	c.256C>A	c.(256-258)Cct>Act	p.P86T	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	86					signal transduction|visual perception	integral to membrane	cGMP binding	p.P86S(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGAGGGTCAGGGTTTGTGGTC	0.423000													42	496					9.22156e-22	1.94616e-21	0.870114	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32891912	32891912	+	RNA	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:32891912A>T	ENST00000330048.5	-	0	2811					NR_003083.2																						GACAGCCAGGATGATGGCGTC	0.627000													12	123					0	0	0.479597	0	0
PSG9	5678	broad.mit.edu	37	19	43772201	43772201	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:43772201G>T	ENST00000244293.7	-	2	231	c.165C>A	c.(163-165)gtC>gtA	p.V55V	PSG9_ENST00000443718.3_Silent_p.V55V|PSG9_ENST00000596730.1_Silent_p.V55V|PSG9_ENST00000418820.2_Silent_p.V55V|PSG9_ENST00000291752.5_Silent_p.V55V|PSG9_ENST00000270077.3_Silent_p.V55V|PSG9_ENST00000593948.1_Silent_p.V55V			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	55	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCAAATTGTGGACAAGTAGAA	0.448000													39	264					1.63429e-32	3.52269e-32	0.870114	1	0
SLC17A6	57084	broad.mit.edu	37	11	22384285	22384285	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:22384285G>T	ENST00000263160.3	+	6	1099	c.661_splice	c.e6-1	p.G221_splice		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	221					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TACACTTTAGGTTCCTATGCC	0.413000													5	89					0.00116845	0.00136997	0.217242	1	0
LRP1B	53353	broad.mit.edu	37	2	141607869	141607869	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:141607869G>A	ENST00000389484.3	-	29	5712	c.4741C>T	c.(4741-4743)Cgt>Tgt	p.R1581C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1581					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTCAGAACGTCTTGCATAA	0.318000										TSP Lung(27;0.18)			4	31					0	0	0.150653	0	0
ASTN2	23245	broad.mit.edu	37	9	119488144	119488144	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:119488144G>T	ENST00000313400.4	-	16	2812	c.2712C>A	c.(2710-2712)taC>taA	p.Y904*	ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Y900*|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Y853*			O75129	ASTN2_HUMAN	astrotactin 2	904						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCTCTGCGATGTAGTGGGAGC	0.542000													7	214					1.06961e-07	1.65474e-07	0.278610	1	0
ACVR2B	93	broad.mit.edu	37	3	38519355	38519355	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:38519355G>T	ENST00000352511.3	+	3	736	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	88					activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCTCCAGGCAGGAGTGTGTGG	0.592000													26	338					2.48696e-23	5.28012e-23	0.779181	1	0
SLC1A2	6506	broad.mit.edu	37	11	35323105	35323105	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:35323105A>C	ENST00000278379.3	-	6	1100	c.818T>G	c.(817-819)tTg>tGg	p.L273W	SLC1A2_ENST00000395753.1_Missense_Mutation_p.L264W|SLC1A2_ENST00000606205.1_Missense_Mutation_p.L273W|SLC1A2_ENST00000395750.1_Missense_Mutation_p.L264W	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	273				AKLMVDFFNILNEIVMKLVIMIMWYSP -> GQADGGFLQH FERDCNEVSDHDHVVLS (in Ref. 3; CAA83532).	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AATCTCATTCAAAATGTTGAA	0.443000													4	89					0	0	0.217242	0	0
MAP1A	4130	broad.mit.edu	37	15	43815987	43815987	+	Silent	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:43815987A>G	ENST00000382031.1	+	5	3061	c.3030A>G	c.(3028-3030)acA>acG	p.T1010T	MAP1A_ENST00000399453.1_Silent_p.T772T|MAP1A_ENST00000300231.5_Silent_p.T772T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	772						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATACAAGTACATATGACCTGC	0.562000													8	38					0	0	0.278610	0	0
NDST4	64579	broad.mit.edu	37	4	115997287	115997287	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:115997287C>T	ENST00000264363.2	-	2	1584	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	302	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAAGGATGTACCTGTCCAAGG	0.403000													12	144					0	0	0.411799	0	0
MBTPS2	51360	broad.mit.edu	37	X	21861318	21861318	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:21861318G>A	ENST00000365779.2	+	2	187	c.106G>A	c.(106-108)Gac>Aac	p.D36N	MBTPS2_ENST00000379484.5_Missense_Mutation_p.D36N|MBTPS2_ENST00000465888.1_3'UTR			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	36					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TTCTTATGAAGACTGGCTGGA	0.378000													7	164					0	0	0.278610	0	0
NPAP1	23742	broad.mit.edu	37	15	24924366	24924366	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:24924366G>T	ENST00000329468.2	+	1	3826	c.3352G>T	c.(3352-3354)Gct>Tct	p.A1118S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTGTGTTCCTGCTTTTCAACA	0.483000													9	185					5.4927e-09	9.01007e-09	0.307466	1	0
CAMK2D	817	broad.mit.edu	37	4	114438808	114438808	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:114438808T>A	ENST00000454265.2	-	9	1465	c.607A>T	c.(607-609)Att>Ttt	p.I203F	CAMK2D_ENST00000515496.1_Missense_Mutation_p.I203F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.I203F|CAMK2D_ENST00000394522.3_Missense_Mutation_p.I203F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.I203F|CAMK2D_ENST00000296402.5_Missense_Mutation_p.I203F|CAMK2D_ENST00000505990.1_Missense_Mutation_p.I203F|CAMK2D_ENST00000514328.1_Missense_Mutation_p.I203F|CAMK2D_ENST00000394526.2_Missense_Mutation_p.I203F|CAMK2D_ENST00000342666.5_Missense_Mutation_p.I203F|CAMK2D_ENST00000511664.1_Missense_Mutation_p.I203F|CAMK2D_ENST00000508738.1_Missense_Mutation_p.I203F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.I203F|CAMK2D_ENST00000418639.2_Missense_Mutation_p.I203F			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	203	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATATAGAGAATGACACCTGGA	0.373000													4	115					0	0	0.150653	0	0
CPA4	51200	broad.mit.edu	37	7	129950768	129950768	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:129950768A>T	ENST00000222482.4	+	9	963	c.935A>T	c.(934-936)cAg>cTg	p.Q312L	CPA4_ENST00000493259.1_Missense_Mutation_p.Q208L|CPA4_ENST00000445470.2_Missense_Mutation_p.Q279L	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	312					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGCTACTCGCAGCTGCTGATG	0.547000													32	273					0	0	0.788014	0	0
CDK14	5218	broad.mit.edu	37	7	90741882	90741882	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:90741882G>T	ENST00000406263.1	+	12	1484	c.1042G>T	c.(1042-1044)Gac>Tac	p.D348Y	CDK14_ENST00000265741.3_Missense_Mutation_p.D376Y|CDK14_ENST00000380050.3_Missense_Mutation_p.D394Y|CDK14_ENST00000436577.2_Missense_Mutation_p.D265Y			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	394	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CCATGCAGAGGACCTGGCCTC	0.468000													19	153					1.10923e-09	1.87614e-09	0.639603	1	0
INHBA	3624	broad.mit.edu	37	7	41730074	41730074	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:41730074C>A	ENST00000242208.4	-	3	701	c.455G>T	c.(454-456)cGt>cTt	p.R152L	INHBA_ENST00000442711.1_Missense_Mutation_p.R152L|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	152					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACTTCTGCACGCTCCACCAC	0.552000										TSP Lung(11;0.080)			13	103					0.00316338	0.00361895	0.479597	1	0
RP1	6101	broad.mit.edu	37	8	55534108	55534108	+	Silent	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:55534108T>A	ENST00000220676.1	+	2	730	c.582T>A	c.(580-582)ccT>ccA	p.P194P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	194	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCAGCGCCCTGTGGTCAAGC	0.587000													18	289					0	0	0.608945	0	0
TTR	7276	broad.mit.edu	37	18	29175117	29175117	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr18:29175117A>T	ENST00000237014.3	+	3	412	c.235A>T	c.(235-237)Aca>Tca	p.T79S		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	79			T -> K (in AMYL-TTR; amyloid cardiomyopathy).		transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	GCATGGGCTCACAACTGAGGA	0.443000													5	55					0	0	0.217242	0	0
ABCG2	9429	broad.mit.edu	37	4	89034589	89034589	+	Missense_Mutation	SNP	C	C	A	rs138606116	byFrequency	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:89034589C>A	ENST00000237612.3	-	9	1605	c.1060G>T	c.(1060-1062)Ggg>Tgg	p.G354W	ABCG2_ENST00000515655.1_Missense_Mutation_p.G354W	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	354					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	p.G354W(4)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TTCTCACCCCCGGAAAGTTGA	0.428000													15	244					0.00074312	0.000893514	0.539581	1	0
CHRM5	1133	broad.mit.edu	37	15	34355873	34355873	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:34355873C>A	ENST00000383263.5	+	3	1625	c.955C>A	c.(955-957)Cct>Act	p.P319T	CHRM5_ENST00000557872.1_Missense_Mutation_p.P319T	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	319					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CGCCACTGACCCTGTCCTCCA	0.542000													20	146					3.80469e-20	7.91153e-20	0.740014	1	0
XYLT1	64131	broad.mit.edu	37	16	17202849	17202849	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:17202849C>A	ENST00000261381.6	-	12	2667	c.2583G>T	c.(2581-2583)ggG>ggT	p.G861G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	861					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCGGAGGGGCCCATTGTGCA	0.562000													17	105					1.33834e-09	2.25287e-09	0.557998	1	0
OGT	8473	broad.mit.edu	37	X	70767810	70767810	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:70767810T>C	ENST00000373719.3	+	5	802	c.585T>C	c.(583-585)agT>agC	p.S195S	OGT_ENST00000373701.3_Silent_p.S185S	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	195					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TAGCTTGGAGTAATCTTGGCT	0.383000													12	186					0	0	0.479597	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213303052	213303052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:213303052G>T	ENST00000366960.3	+	6	805	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.E38*|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.E207*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	219					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AACAGAAGAAGAACGGGAAAG	0.418000													4	59					1.23904e-05	1.69768e-05	0.184627	1	0
FSHB	2488	broad.mit.edu	37	11	30255205	30255205	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:30255205G>A	ENST00000417547.1	+	3	287	c.248G>A	c.(247-249)gGc>gAc	p.G83D	FSHB_ENST00000254122.3_Missense_Mutation_p.G83D|FSHB_ENST00000533718.1_Missense_Mutation_p.G83D	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	83					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	AGAGTGCCCGGCTGTGCTCAC	0.512000													6	83					0	0	0.217242	0	0
MUC17	140453	broad.mit.edu	37	7	100679185	100679185	+	Silent	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:100679185T>G	ENST00000306151.4	+	3	4552	c.4488T>G	c.(4486-4488)ccT>ccG	p.P1496P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1496	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCATCTCCTACACCTGCTG	0.502000													6	330					0	0	0.248553	0	0
HGF	3082	broad.mit.edu	37	7	81372699	81372699	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:81372699G>T	ENST00000222390.5	-	7	1061	c.835C>A	c.(835-837)Cgc>Agc	p.R279S	HGF_ENST00000453411.1_Missense_Mutation_p.R274S|HGF_ENST00000444829.2_Missense_Mutation_p.R279S|HGF_ENST00000457544.2_Missense_Mutation_p.R274S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	279	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.R279G(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TACTCCCAGCGGGTGTGAGGG	0.473000													10	103					1.61879e-10	2.82589e-10	0.411799	1	0
RXFP3	51289	broad.mit.edu	37	5	33938004	33938004	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:33938004G>A	ENST00000330120.3	+	1	1514	c.1159G>A	c.(1159-1161)Gtc>Atc	p.V387I		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	387						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTCAACCCCGTCCTCTACTG	0.632000													5	266					0	0	0.217242	0	0
BMS1	9790	broad.mit.edu	37	10	43297666	43297666	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:43297666G>T	ENST00000374518.4	+	13	2392	c.2329_splice	c.e13+1	p.E777_splice		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	777					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAGAAGATGGTAAGTAAAG	0.383000													4	62					0.000602214	0.000727804	0.184627	1	0
LRGUK	136332	broad.mit.edu	37	7	133906639	133906639	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:133906639G>T	ENST00000285928.2	+	16	2021	c.1952G>T	c.(1951-1953)tGg>tTg	p.W651L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	651							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATTAAATTTTGGGCCAAACTT	0.418000													4	73					0.217242	0.223242	0.217242	1	0
MYH6	4624	broad.mit.edu	37	14	23876269	23876269	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:23876269T>A	ENST00000405093.3	-	3	234	c.164A>T	c.(163-165)gAg>gTg	p.E55V	MYH6_ENST00000356287.3_Missense_Mutation_p.E55V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	55	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTGCCTCCCTCCCGGGACAA	0.572000													60	608					0	0	0.870114	0	0
THSD7B	80731	broad.mit.edu	37	2	138208482	138208482	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:138208482G>T	ENST00000409968.1	+	15	3205	c.3027G>T	c.(3025-3027)tgG>tgT	p.W1009C	THSD7B_ENST00000272643.3_Missense_Mutation_p.W1009C|THSD7B_ENST00000413152.2_Missense_Mutation_p.W978C|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTCTAGTTGGGGGTCTTGCA	0.408000													3	63					0.004672	0.00527652	0.115264	1	0
KALRN	8997	broad.mit.edu	37	3	124378292	124378292	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:124378292G>T	ENST00000360013.3	+	43	6328	c.6201G>T	c.(6199-6201)caG>caT	p.Q2067H	KALRN_ENST00000393496.1_Missense_Mutation_p.Q408H|KALRN_ENST00000291478.4_Missense_Mutation_p.Q370H|KALRN_ENST00000428018.2_Missense_Mutation_p.Q338H|KALRN_ENST00000459915.1_Missense_Mutation_p.Q159H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2066	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAATACCAGTTGCTCCTCA	0.498000													14	105					1.49906e-05	2.04601e-05	0.457914	1	0
TTC21B	79809	broad.mit.edu	37	2	166771850	166771850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:166771850G>A	ENST00000243344.7	-	15	2136	c.1999C>T	c.(1999-2001)Caa>Taa	p.Q667*		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	667						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ATATCTCCTTGGGCTAGAGCA	0.418000													32	258					0	0	0.804634	0	0
KAL1	3730	broad.mit.edu	37	X	8538724	8538724	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:8538724G>A	ENST00000262648.3	-	7	1027	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	293	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GAGGTTAGCCGGTGCTGGTGG	0.512000													3	67					0	0	0.150653	0	0
CACNA1C	775	broad.mit.edu	37	12	2566870	2566870	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:2566870C>A	ENST00000399655.1	+	5	1020	c.755C>A	c.(754-756)cCa>cAa	p.P252Q	CACNA1C_ENST00000335762.5_Missense_Mutation_p.P252Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P252Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P252Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	252					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCGGAGTCCCAAGTAAGTGA	0.577000													28	403					3.03874e-20	6.33743e-20	0.779181	1	0
COL9A2	1298	broad.mit.edu	37	1	40775619	40775619	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:40775619C>A	ENST00000372748.3	-	16	933	c.837G>T	c.(835-837)aaG>aaT	p.K279N		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	279	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCTCGTCACCCTTCTCCCCAG	0.622000													11	245					2.27111e-07	3.47549e-07	0.411799	1	0
SVEP1	79987	broad.mit.edu	37	9	113169017	113169017	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:113169017G>A	ENST00000401783.2	-	38	9199	c.8863C>T	c.(8863-8865)Ctt>Ttt	p.L2955F	SVEP1_ENST00000374469.1_Missense_Mutation_p.L2932F|SVEP1_ENST00000297826.5_Missense_Mutation_p.L881F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2955	Sushi 26.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCATGGGCAAGATCTTCAGGA	0.458000													17	265					0	0	0.500413	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138707824	138707824	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:138707824T>C	ENST00000389532.4	-	15	4363	c.4299A>G	c.(4297-4299)atA>atG	p.I1433M	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.I1155M|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.I1444M|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1433						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TACGGCTCAGTATGGGCAGGG	0.617000													7	127					0	0	0.307466	0	0
ANKK1	255239	broad.mit.edu	37	11	113264300	113264300	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:113264300G>C	ENST00000303941.3	+	2	377	c.283G>C	c.(283-285)Ggt>Cgt	p.G95R		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	95	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCAGCCCCTGGGTATTGTGAT	0.512000													5	43					0	0	0.217242	0	0
SLC36A3	285641	broad.mit.edu	37	5	150672930	150672930	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:150672930C>A	ENST00000335230.3	-	4	810	c.399G>T	c.(397-399)tgG>tgT	p.W133C	SLC36A3_ENST00000377713.3_Missense_Mutation_p.W133C	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	133						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTACCTTCCCCACACTGCAT	0.433000													4	43					0.0215528	0.0232284	0.217242	1	0
POLR3B	55703	broad.mit.edu	37	12	106786903	106786903	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:106786903A>T	ENST00000228347.4	+	10	1040	c.818A>T	c.(817-819)cAg>cTg	p.Q273L	POLR3B_ENST00000539066.1_Missense_Mutation_p.Q215L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	273					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GAAGAGTGCCAGAAAGCTCAG	0.463000													15	181					0	0	0.520397	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111735093	111735093	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:111735093C>T	ENST00000374595.4	-	9	1288	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q	CTNNAL1_ENST00000325551.4_Silent_p.Q403Q|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	403					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTGCTGCCAGCTGTGTCGCTG	0.433000													5	102					0	0	0.217242	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685302	125685302	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:125685302C>G	ENST00000371126.1	-	1	1532	c.1290G>C	c.(1288-1290)gcG>gcC	p.A430A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	430										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGGTGTAGAGCGCATTGGGAA	0.562000													25	234					0	0	0.750413	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338447	28338447	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr21:28338447G>T	ENST00000284987.5	-	1	385	c.264C>A	c.(262-264)ggC>ggA	p.G88G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	88					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGACGAGGTAGCCCACCTTGC	0.701000													9	147					4.36969e-10	7.53505e-10	0.435327	1	0
RECK	8434	broad.mit.edu	37	9	36122952	36122952	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:36122952G>T	ENST00000377966.3	+	21	3392	c.2826G>T	c.(2824-2826)tcG>tcT	p.S942S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	942						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTGTGCCATCGGCCGGTGTCA	0.587000													9	195					0.00621372	0.00698426	0.335167	1	0
OR4C16	219428	broad.mit.edu	37	11	55340041	55340041	+	Silent	SNP	C	C	A	rs149901183	by1000genomes	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:55340041C>A	ENST00000314634.3	+	1	438	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGCTGTGGCCTGGGTGGGAT	0.498000													16	163					1.15088e-07	1.76501e-07	0.500413	1	0
KRT9	3857	broad.mit.edu	37	17	39728088	39728088	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:39728088A>T	ENST00000246662.4	-	1	222	c.157T>A	c.(157-159)Tat>Aat	p.Y53N	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	53	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCCCCACCATAGCCACTAGAA	0.632000													7	55					0	0	0.307466	0	0
AMER3	205147	broad.mit.edu	37	2	131521157	131521157	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:131521157C>A	ENST00000423981.1	+	2	1622	c.1512C>A	c.(1510-1512)atC>atA	p.I504I	AMER3_ENST00000321420.4_Silent_p.I504I	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AGCTCGCCATCACCATGGGCA	0.682000													6	42					2.0095e-06	2.88763e-06	0.248553	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198431	170198431	+	Missense_Mutation	SNP	C	C	A	rs150247327	by1000genomes	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:170198431C>A	ENST00000231706.4	-	7	1955	c.1640G>T	c.(1639-1641)cGg>cTg	p.R547L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	547						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AAGGCCCAGCCGGATTCTCAT	0.507000													3	96					0.004672	0.00527652	0.115264	1	0
ANK2	287	broad.mit.edu	37	4	114279809	114279809	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:114279809G>T	ENST00000357077.4	+	38	10088	c.10035G>T	c.(10033-10035)aaG>aaT	p.K3345N	ANK2_ENST00000264366.6_Missense_Mutation_p.K3312N|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3312					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAAACCAAAGTCCAAACTCC	0.483000													12	136					1.49906e-05	2.04601e-05	0.457914	1	0
MYH1	4619	broad.mit.edu	37	17	10419243	10419243	+	Splice_Site	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:10419243C>A	ENST00000226207.5	-	5	599	c.505_splice	c.e5+1	p.D169_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	169	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCCACTCACCAGTCAGCATG	0.433000													29	222					2.68265e-12	4.96501e-12	0.769981	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171720	68171720	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:68171720G>T	ENST00000243457.3	+	2	923	c.540G>T	c.(538-540)atG>atT	p.M180I	KCNJ2_ENST00000535240.1_Missense_Mutation_p.M180I	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	180					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCGCAGTCATGGCCAAGATGG	0.493000													15	109					9.16793e-09	1.48323e-08	0.520397	1	0
NEU4	129807	broad.mit.edu	37	2	242757931	242757931	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:242757931C>A	ENST00000391969.2	+	5	1723	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K	NEU4_ENST00000405370.1_Missense_Mutation_p.Q338K|NEU4_ENST00000325935.6_Missense_Mutation_p.Q351K|NEU4_ENST00000404257.1_Missense_Mutation_p.Q350K|NEU4_ENST00000407683.1_Missense_Mutation_p.Q338K	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	338	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CAGCCGTCTGCAGCCTCGGGG	0.711000													5	19					0.00116845	0.00136997	0.217242	1	0
HELB	92797	broad.mit.edu	37	12	66718823	66718823	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:66718823C>T	ENST00000247815.4	+	11	2646	c.2587C>T	c.(2587-2589)Ctg>Ttg	p.L863L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	863					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TATGGCTGGCCTGGAAGTAAC	0.348000													7	96					0	0	0.278610	0	0
NNMT	4837	broad.mit.edu	37	11	114182844	114182844	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:114182844A>G	ENST00000535401.1	+	5	704	c.440A>G	c.(439-441)cAg>cGg	p.Q147R	NNMT_ENST00000299964.3_Missense_Mutation_p.Q147R|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	147					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ACTCAGAGCCAGCCACTGGGG	0.607000													7	176					0	0	0.387290	0	0
TBX15	6913	broad.mit.edu	37	1	119466092	119466092	+	Silent	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:119466092C>G	ENST00000369429.3	-	5	837	c.828G>C	c.(826-828)gtG>gtC	p.V276V	TBX15_ENST00000207157.3_Silent_p.V170V			Q96SF7	TBX15_HUMAN	T-box 15	276						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGTGGTGAACACAGTCTCAG	0.468000													5	52					0	0	0.184627	0	0
C9	735	broad.mit.edu	37	5	39341776	39341776	+	Silent	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:39341776A>G	ENST00000263408.4	-	3	305	c.210T>C	c.(208-210)ttT>ttC	p.F70F	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	70	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TAAATTGTCCAAAGACCTCAA	0.453000													10	76					0	0	0.387290	0	0
OR8U1	219417	broad.mit.edu	37	11	56143272	56143272	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:56143272C>A	ENST00000302270.1	+	1	173	c.173C>A	c.(172-174)cCa>cAa	p.P58Q		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTCAACACACCAATGTACTTC	0.398000													19	349					2.00529e-23	4.28321e-23	0.654019	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251490	25251490	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:25251490T>C	ENST00000328086.7	-	7	3354	c.2551A>G	c.(2551-2553)Aga>Gga	p.R851G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	851					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTGTGCGTTCTCTGATGTATA	0.493000													9	102					0	0	0.361761	0	0
MYT1	4661	broad.mit.edu	37	20	62839456	62839456	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:62839456G>A	ENST00000536311.1	+	7	1271	c.907G>A	c.(907-909)Gag>Aag	p.E303K	MYT1_ENST00000328439.1_Missense_Mutation_p.E303K|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	303	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaagaggaggaggagga	0.582000													8	75					0	0	0.361761	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204217998	204217998	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:204217998A>G	ENST00000272203.3	-	12	2091	c.1775T>C	c.(1774-1776)cTg>cCg	p.L592P	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.L612P	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	592										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGGTTCTGCAGTGAATCCTT	0.592000													7	57					0	0	0.335167	0	0
SLBP	7884	broad.mit.edu	37	4	1705370	1705370	+	Silent	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:1705370T>A	ENST00000489418.1	-	3	600	c.234A>T	c.(232-234)gcA>gcT	p.A78A	SLBP_ENST00000488267.1_Intron|SLBP_ENST00000318386.4_Silent_p.A78A|SLBP_ENST00000429429.2_Silent_p.A39A	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	78					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			CTTCTTCAACTGCACTTGCCC	0.433000													16	168					0	0	0.592651	0	0
ATP10B	23120	broad.mit.edu	37	5	159992577	159992577	+	Silent	SNP	G	G	T	rs112214351		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:159992577G>T	ENST00000327245.5	-	26	5115	c.4269C>A	c.(4267-4269)tcC>tcA	p.S1423S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1423					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCTCCCCGGATGAGAGTT	0.557000													6	171					0.000274275	0.000342602	0.307466	1	0
GFPT1	2673	broad.mit.edu	37	2	69569302	69569302	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:69569302A>C	ENST00000357308.4	-	13	1363	c.1185T>G	c.(1183-1185)agT>agG	p.S395R	GFPT1_ENST00000361060.4_Missense_Mutation_p.S377R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	395	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CAGCATGGTAACTTGTTCCAC	0.348000													12	249					0	0	0.457914	0	0
HIST1H4L	8368	broad.mit.edu	37	6	27840995	27840995	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:27840995C>A	ENST00000355981.2	-	1	294	c.294G>T	c.(292-294)ctG>ctT	p.L98L		NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	98					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						CAAAGCCATACAGGGTGCGGC	0.537000													5	87					1.06961e-07	1.65474e-07	0.278610	1	0
PHEX	5251	broad.mit.edu	37	X	22095665	22095665	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:22095665C>G	ENST00000379374.4	+	5	1073	c.508C>G	c.(508-510)Ctt>Gtt	p.L170V	PHEX_ENST00000535894.1_Missense_Mutation_p.L73V|PHEX_ENST00000537599.1_Missense_Mutation_p.L170V	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	170					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTGGCCCGTGCTTGAATCTAA	0.473000													34	391					0	0	0.859065	0	0
COL2A1	1280	broad.mit.edu	37	12	48367917	48367917	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:48367917C>T	ENST00000380518.3	-	53	4436	c.4272G>A	c.(4270-4272)gaG>gaA	p.E1424E	COL2A1_ENST00000337299.6_Silent_p.E1355E|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1424	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGCTATTGCCCTCTGCCCGGA	0.597000													8	111					0	0	0.307466	0	0
MS4A7	58475	broad.mit.edu	37	11	60156932	60156932	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:60156932G>T	ENST00000358246.1	+	4	467	c.274G>T	c.(274-276)Gac>Tac	p.D92Y	MS4A7_ENST00000300184.3_Missense_Mutation_p.D137Y|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.D92Y	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	137						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CCTCCTTGCTGACAGCATGGT	0.468000													6	67					8.12818e-05	0.000104294	0.248553	1	0
BOD1L1	259282	broad.mit.edu	37	4	13597538	13597538	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:13597538C>A	ENST00000040738.5	-	12	8185	c.8050G>T	c.(8050-8052)Ggt>Tgt	p.G2684C		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2684							DNA binding										AGAATTTCACCATTTTTCTCT	0.388000													17	246					2.94398e-08	4.70904e-08	0.557998	1	0
LOC440040	440040	broad.mit.edu	37	11	49831737	49831737	+	RNA	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:49831737C>A	ENST00000527477.1	+	0	1962																											ATACACCATCCCTAATTGCTC	0.443000													26	326					3.90053e-15	7.72457e-15	0.760397	1	0
KLHL4	56062	broad.mit.edu	37	X	86880719	86880719	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:86880719T>C	ENST00000373119.4	+	6	1392	c.1247T>C	c.(1246-1248)aTg>aCg	p.M416T	KLHL4_ENST00000373114.4_Missense_Mutation_p.M416T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	416						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						AGATCCATGATGCAAAGCCCT	0.428000													5	63					0	0	0.217242	0	0
CILP	8483	broad.mit.edu	37	15	65497661	65497661	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:65497661C>T	ENST00000261883.4	-	5	734	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	190	TSP type-1.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGACCCTCTTCGCTGGCCTCA	0.617000													8	173					0	0	0.335167	0	0
TNR	7143	broad.mit.edu	37	1	175372726	175372726	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:175372726T>A	ENST00000367674.1	-	4	1234	c.526A>T	c.(526-528)Agt>Tgt	p.S176C	TNR_ENST00000263525.2_Missense_Mutation_p.S176C	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	176	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCGTGGCCACTGCAGTGAGGG	0.557000													22	182					0	0	0.667858	0	0
SLC36A4	120103	broad.mit.edu	37	11	92881986	92881986	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:92881986C>T	ENST00000326402.4	-	11	1362	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H	SLC36A4_ENST00000529184.1_Missense_Mutation_p.R276H	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	411					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AATGTCTAAACGAGGAATAAG	0.348000													9	127					0	0	0.411799	0	0
ALOX12B	242	broad.mit.edu	37	17	7979494	7979494	+	Splice_Site	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:7979494T>A	ENST00000319144.4	-	11	1791	c.1532_splice	c.e11+1	p.K511_splice	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	511	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGAGCTCACTTCTCCAGTGCA	0.572000										Multiple Myeloma(8;0.094)			11	76					0	0	0.457914	0	0
NLRP3	114548	broad.mit.edu	37	1	247586606	247586606	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:247586606T>A	ENST00000366497.2	+	3	1138	c.358T>A	c.(358-360)Tta>Ata	p.L120I	NLRP3_ENST00000336119.3_Missense_Mutation_p.L120I|NLRP3_ENST00000391828.3_Missense_Mutation_p.L120I|NLRP3_ENST00000391827.2_Missense_Mutation_p.L120I|NLRP3_ENST00000348069.2_Missense_Mutation_p.L120I|NLRP3_ENST00000366496.2_Missense_Mutation_p.L120I|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	120					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGGATGGGTTTACTGGAGTA	0.428000													15	155					0	0	0.557998	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284956	125284956	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:125284956G>A	ENST00000431078.1	+	10	1933	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	523	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCAGCCCAAGGACCTCATTT	0.443000													8	98					0	0	0.278610	0	0
CARD16	114769	broad.mit.edu	37	11	104912187	104912187	+	Silent	SNP	T	T	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:104912187T>C	ENST00000375706.2	-	3	551	c.534A>G	c.(532-534)ctA>ctG	p.L178L	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TTCTAGGATATAGAGATCCTT	0.393000													3	70					0	0	0.115264	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31954758	31954758	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:31954758C>A	ENST00000357886.4	-	13	1644	c.1491G>T	c.(1489-1491)agG>agT	p.R497S	CDK5RAP1_ENST00000544843.1_3'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R483S|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R406S|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R393S|CDK5RAP1_ENST00000473997.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	497	CDK5R1-binding.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CCTCCAAACGCCTTAATTTTA	0.458000													5	137					0.014758	0.0161515	0.184627	1	0
VCAN	1462	broad.mit.edu	37	5	82835858	82835858	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:82835858G>C	ENST00000265077.3	+	8	7601	c.7036G>C	c.(7036-7038)Gtg>Ctg	p.V2346L	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.V1359L|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2346	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGGACCCACGGTGGCACCTCT	0.463000													4	118					0	0	0.217242	0	0
EYA4	2070	broad.mit.edu	37	6	133783520	133783520	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:133783520C>A	ENST00000367895.5	+	8	949	c.485C>A	c.(484-486)gCc>gAc	p.A162D	EYA4_ENST00000531901.1_Missense_Mutation_p.A162D|EYA4_ENST00000355167.3_Missense_Mutation_p.A162D|EYA4_ENST00000355286.6_Missense_Mutation_p.A139D|EYA4_ENST00000525849.1_Missense_Mutation_p.A139D|EYA4_ENST00000452339.2_Missense_Mutation_p.A108D|EYA4_ENST00000431403.2_Missense_Mutation_p.A162D|EYA4_ENST00000430974.2_Missense_Mutation_p.A108D	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	162					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACAATGTCTGCCTATGCAGGC	0.468000													21	205					9.78306e-22	2.05852e-21	0.740014	1	0
RYR2	6262	broad.mit.edu	37	1	237632437	237632437	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:237632437G>T	ENST00000366574.2	+	17	1975	c.1658G>T	c.(1657-1659)gGc>gTc	p.G553V	RYR2_ENST00000542537.1_Missense_Mutation_p.G537V|RYR2_ENST00000360064.6_Missense_Mutation_p.G551V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	553					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G551V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTCTGGCTCCCTCGAC	0.373000													5	57					0.014758	0.0161515	0.184627	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239974	5239974	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:5239974G>A	ENST00000274181.7	+	16	2597	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	820	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R820P(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GACTACAGACGGTCCTATAAT	0.517000													4	192					0	0	0.150653	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291280	141291280	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:141291280G>T	ENST00000247452.3	-	3	841	c.494C>A	c.(493-495)gCa>gAa	p.A165E		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	165	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCATCTCTGCCTCTGTTAC	0.458000										HNSCC(46;0.14)			5	299					0.0215528	0.0232284	0.217242	1	0
ANO4	121601	broad.mit.edu	37	12	101491471	101491471	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:101491471G>A	ENST00000392979.3	+	19	2149	c.1788G>A	c.(1786-1788)agG>agA	p.R596R	ANO4_ENST00000550015.1_Silent_p.R151R|ANO4_ENST00000299222.9_Silent_p.R151R|ANO4_ENST00000392977.3_Silent_p.R631R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	631						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATAAACAGGTGGAGACTAG	0.438000										HNSCC(74;0.22)			9	83					0	0	0.335167	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48201948	48201948	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:48201948G>T	ENST00000396720.3	+	12	3500	c.3306G>T	c.(3304-3306)acG>acT	p.T1102T	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1102							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		ACTACAAGACGGCCTTCCCCT	0.637000											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	71					3.86212e-05	5.10377e-05	0.361761	1	0
MAPK9	5601	broad.mit.edu	37	5	179668157	179668157	+	Splice_Site	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:179668157T>A	ENST00000452135.2	-	9	1170		c.e9-2		MAPK9_ENST00000397072.3_Splice_Site|MAPK9_ENST00000393360.3_Splice_Site|MAPK9_ENST00000347470.4_Splice_Site|MAPK9_ENST00000455781.1_Splice_Site|MAPK9_ENST00000343111.6_Splice_Site			P45984	MK09_HUMAN	mitogen-activated protein kinase 9						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGACTTGCTAGGGTGACAA	0.343000													9	292					0	0	0.361761	0	0
ZBTB41	360023	broad.mit.edu	37	1	197145789	197145789	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:197145789C>A	ENST00000367405.4	-	7	1852	c.1784G>T	c.(1783-1785)cGa>cTa	p.R595L	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ATGATGTACTCGTAAGTGAAG	0.299000													11	115					7.03913e-09	1.14144e-08	0.411799	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153303397	153303397	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:153303397A>G	ENST00000368739.3	-	9	1314	c.956T>C	c.(955-957)cTa>cCa	p.L319P	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.L323P			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	323					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTGCCTCTAGTGCTGCAGC	0.542000													5	147					0	0	0.184627	0	0
NBAS	51594	broad.mit.edu	37	2	15415693	15415693	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:15415693C>A	ENST00000281513.5	-	44	5664	c.5639G>T	c.(5638-5640)tGc>tTc	p.C1880F	NBAS_ENST00000441750.1_Missense_Mutation_p.C1760F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1880										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTACTTCATGCAGACATCATA	0.453000													3	60					0.115264	0.120907	0.115264	1	0
KRT33A	3883	broad.mit.edu	37	17	39506982	39506982	+	Missense_Mutation	SNP	C	C	A	rs143698304	byFrequency	TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:39506982C>A	ENST00000007735.3	-	1	82	c.38G>T	c.(37-39)cGc>cTc	p.R13L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	13	Head.					intermediate filament	protein binding|structural molecule activity	p.R13H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCTCAG	0.642000													12	53					6.40141e-05	8.38111e-05	0.387290	1	0
HAL	3034	broad.mit.edu	37	12	96371728	96371728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:96371728C>A	ENST00000261208.3	-	18	2016	c.1648G>T	c.(1648-1650)Gag>Tag	p.E550*	HAL_ENST00000538703.1_Nonsense_Mutation_p.E550*|HAL_ENST00000541929.1_Nonsense_Mutation_p.E342*	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	550					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TTACCTTGCTCCACATGCTCG	0.597000													6	105					0.217242	0.223242	0.217242	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140750675	140750675	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:140750675C>G	ENST00000576222.1	+	1	845	c.714C>G	c.(712-714)aaC>aaG	p.N238K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATGATAACCCCCCAGTAT	0.532000													8	103					0	0	0.361761	0	0
EPG5	57724	broad.mit.edu	37	18	43480998	43480998	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr18:43480998C>T	ENST00000282041.5	-	26	4643	c.4609G>A	c.(4609-4611)Gtg>Atg	p.V1537M	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1537					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTGTGCACACCAGCTGGGTG	0.557000													8	98					0	0	0.361761	0	0
TRPV5	56302	broad.mit.edu	37	7	142626597	142626597	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:142626597G>T	ENST00000265310.1	-	4	761	c.413C>A	c.(412-414)aCc>aAc	p.T138N	TRPV5_ENST00000442623.1_Missense_Mutation_p.T138N	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	138					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGCCCTGCGGGTGAGCAGGGC	0.602000													21	153					2.44723e-14	4.80609e-14	0.681144	1	0
NPY2R	4887	broad.mit.edu	37	4	156136162	156136162	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:156136162C>A	ENST00000329476.3	+	2	1560	c.1071C>A	c.(1069-1071)ttC>ttA	p.F357L	NPY2R_ENST00000506608.1_Missense_Mutation_p.F357L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	357					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCGTGACATTCAAGGCTAAAA	0.493000													4	99					1.23904e-05	1.69768e-05	0.184627	1	0
ZNF675	171392	broad.mit.edu	37	19	23836279	23836279	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:23836279C>A	ENST00000359788.4	-	4	1624	c.1456G>T	c.(1456-1458)Ggc>Tgc	p.G486C	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	486					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAGCTTTGCCACATTCTTCA	0.378000													3	56					2.56e-06	3.66381e-06	0.150653	1	0
WWP1	11059	broad.mit.edu	37	8	87393807	87393807	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:87393807G>C	ENST00000517970.1	+	5	590	c.283G>C	c.(283-285)Gga>Cga	p.G95R	WWP1_ENST00000341922.2_Missense_Mutation_p.G95R|WWP1_ENST00000265428.4_Missense_Mutation_p.G95R|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	95	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGCTTTATTAGGAAAAGCAAC	0.313000													9	64					0	0	0.335167	0	0
TCTN2	79867	broad.mit.edu	37	12	124175078	124175078	+	Splice_Site	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:124175078A>T	ENST00000303372.5	+	8	1019		c.e8-1		TCTN2_ENST00000426174.2_Splice_Site	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2						cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTTCTCCCTCAGGTGTCCCTG	0.458000													7	78					0	0	0.307466	0	0
ABCB4	5244	broad.mit.edu	37	7	87104740	87104740	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:87104740G>T	ENST00000265723.4	-	2	153	c.42C>A	c.(40-42)ccC>ccA	p.P14P	ABCB4_ENST00000359206.3_Silent_p.P14P|ABCB4_ENST00000453593.1_Silent_p.P14P|ABCB4_ENST00000545634.1_Silent_p.P14P|ABCB4_ENST00000358400.3_Silent_p.P14P	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	14					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCGCGCTCGTGGGGCGCCAGG	0.607000													16	134					0.000566183	0.000697372	0.520397	1	0
NCR1	9437	broad.mit.edu	37	19	55417548	55417548	+	Translation_Start_Site	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:55417548G>A	ENST00000594765.1	+	1	28	c.3G>A	c.(1-3)atG>atA	p.M1I	NCR1_ENST00000291890.4_Start_Codon_SNP_p.M1I|NCR1_ENST00000447255.1_Start_Codon_SNP_p.M1I|NCR1_ENST00000357397.5_Start_Codon_SNP_p.M1I|NCR1_ENST00000598576.1_Start_Codon_SNP_p.M1I|NCR1_ENST00000338835.5_Start_Codon_SNP_p.M1I|NCR1_ENST00000350790.5_Start_Codon_SNP_p.M1I			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	1					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCTGAGCGATGTCTTCCACAC	0.627000													13	159					0	0	0.500413	0	0
TRPM5	29850	broad.mit.edu	37	11	2433398	2433398	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:2433398G>T	ENST00000452833.1	-	16	2455	c.2447C>A	c.(2446-2448)gCc>gAc	p.A816D	TRPM5_ENST00000155858.6_Missense_Mutation_p.A814D|TRPM5_ENST00000533060.1_Missense_Mutation_p.A814D|TRPM5_ENST00000528453.1_Missense_Mutation_p.A814D			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	814						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGGAAGATGGCCACCATGTC	0.592000													13	220					1.67942e-08	2.70466e-08	0.539581	1	0
SLC22A9	114571	broad.mit.edu	37	11	63137816	63137816	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:63137816G>T	ENST00000279178.3	+	1	537	c.288G>T	c.(286-288)tgG>tgT	p.W96C	SLC22A9_ENST00000310969.4_Missense_Mutation_p.W96C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	96					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATCCTCAGTGGCAGCTCCTTC	0.537000													6	74					0.00198382	0.00229928	0.248553	1	0
TIE1	7075	broad.mit.edu	37	1	43778196	43778196	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:43778196G>A	ENST00000372476.3	+	12	1930	c.1851G>A	c.(1849-1851)caG>caA	p.Q617Q	TIE1_ENST00000433781.2_Silent_p.Q262Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	617	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCACTACCAGCTGGATGTGC	0.687000													10	106					0	0	0.411799	0	0
TRIM22	10346	broad.mit.edu	37	11	5727829	5727829	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:5727829G>T	ENST00000379965.3	+	5	1033	c.756G>T	c.(754-756)gtG>gtT	p.V252V	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	252					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CCCAGGATGTGATTGACGTCA	0.348000													9	105					7.03913e-09	1.14144e-08	0.411799	1	0
OR56A3	390083	broad.mit.edu	37	11	5969287	5969287	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:5969287C>A	ENST00000329564.6	+	1	718	c.711C>A	c.(709-711)gcC>gcA	p.A237A		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGGGTGCCGTGGCAAAGG	0.522000													8	264					1.12685e-05	1.55299e-05	0.307466	1	0
ZFHX3	463	broad.mit.edu	37	16	72992410	72992410	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:72992410C>A	ENST00000268489.5	-	2	2307	c.1635G>T	c.(1633-1635)agG>agT	p.R545S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	545					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGCTGTGCCCCTCGACAGGG	0.498000													8	78					5.18039e-06	7.25255e-06	0.278610	1	0
DUOX1	53905	broad.mit.edu	37	15	45433203	45433203	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:45433203C>T	ENST00000321429.4	+	14	1907	c.1500C>T	c.(1498-1500)atC>atT	p.I500I	DUOX1_ENST00000561166.1_Silent_p.I146I|DUOX1_ENST00000389037.3_Silent_p.I500I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	500	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCAGCACCATCGTCCTTGAAC	0.602000													8	174					0	0	0.387290	0	0
MORC1	27136	broad.mit.edu	37	3	108788485	108788485	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:108788485C>A	ENST00000232603.5	-	9	891	c.809G>T	c.(808-810)aGa>aTa	p.R270I	MORC1_ENST00000483760.1_Missense_Mutation_p.R270I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	270					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R270K(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTACCTGGGTCTGTAGAGGCA	0.353000													5	112					5.9392e-07	8.97225e-07	0.217242	1	0
OR4A15	81328	broad.mit.edu	37	11	55135866	55135866	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:55135866T>G	ENST00000314706.3	+	1	507	c.507T>G	c.(505-507)tgT>tgG	p.C169W		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GTCGAGTCTGTGTTCTTATGC	0.448000													13	286					0	0	0.520397	0	0
KANSL1	284058	broad.mit.edu	37	17	44143943	44143943	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:44143943C>A	ENST00000262419.6	-	6	2278	c.1808G>T	c.(1807-1809)aGg>aTg	p.R603M	KANSL1_ENST00000575318.1_Missense_Mutation_p.R603M|KANSL1_ENST00000574590.1_Missense_Mutation_p.R603M|KANSL1_ENST00000572904.1_Missense_Mutation_p.R603M|KANSL1_ENST00000432791.1_Missense_Mutation_p.R603M|KANSL1_ENST00000393476.3_De_novo_Start_InFrame	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	603						MLL1 complex	protein binding										TCGAACAAGCCTCCGCTTCTT	0.493000													5	65					5.18039e-06	7.25255e-06	0.278610	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885242	88885242	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:88885242C>A	ENST00000319675.3	-	1	1054	c.958G>T	c.(958-960)Gtg>Ttg	p.V320L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	320										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCACATGCACGGGTAGGTAG	0.537000													10	71					0.0202918	0.0221052	0.457914	1	0
OR11L1	391189	broad.mit.edu	37	1	248004466	248004466	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:248004466G>T	ENST00000355784.2	-	1	788	c.733C>A	c.(733-735)Ctg>Atg	p.L245M		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACAACAGCCAGGTGGGAGCCA	0.488000													8	113					1.12685e-05	1.55299e-05	0.307466	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746040	77746040	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:77746040T>A	ENST00000409088.3	-	3	1369	c.955A>T	c.(955-957)Att>Ttt	p.I319F	LRRTM4_ENST00000409911.1_Missense_Mutation_p.I320F|LRRTM4_ENST00000409282.1_Missense_Mutation_p.I320F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.I319F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.I319F	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	319	LRRCT.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAAGGACAAATGCTCCGACTG	0.398000													3	13					0	0	0.115264	0	0
FAM3D	131177	broad.mit.edu	37	3	58641299	58641299	+	Translation_Start_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:58641299G>T	ENST00000358781.2	-	0	302					NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D						negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		ATCCTGTCCAGGTGAAGGGTG	0.507000													5	42					0.00116845	0.00136997	0.217242	1	0
FAT4	79633	broad.mit.edu	37	4	126239168	126239168	+	Silent	SNP	T	T	A	rs35240046		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:126239168T>A	ENST00000394329.3	+	1	1615	c.1602T>A	c.(1600-1602)acT>acA	p.T534T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	534	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCGTGACCACTGGGTCCTCTG	0.547000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	67					0	0	0.115264	0	0
KRT34	3885	broad.mit.edu	37	17	39538404	39538404	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:39538404G>T	ENST00000394001.1	-	1	251	c.221C>A	c.(220-222)cCt>cAt	p.P74H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	74	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGGCCCCAGGCAGGGTGTA	0.627000													7	148					2.0095e-06	2.88763e-06	0.248553	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704259	56704259	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:56704259C>A	ENST00000586855.2	-	2	476	c.163G>T	c.(163-165)Gag>Tag	p.E55*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.E55*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGGTCCGACTCCTCTGGGCAG	0.562000													7	36					0.000442599	0.000546104	0.335167	1	0
SCN8A	6334	broad.mit.edu	37	12	52115621	52115621	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:52115621G>A	ENST00000354534.5	+	12	2105	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	SCN8A_ENST00000545061.1_Missense_Mutation_p.V643M|SCN8A_ENST00000550891.1_Missense_Mutation_p.V643M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	643					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAACAGCACGGTGGACTGCAA	0.672000													4	97					0	0	0.184627	0	0
C1orf131	128061	broad.mit.edu	37	1	231374868	231374868	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:231374868A>G	ENST00000318906.2	-	2	213	c.185T>C	c.(184-186)gTg>gCg	p.V62A	C1orf131_ENST00000366649.2_Missense_Mutation_p.V62A|C1orf131_ENST00000366651.3_Missense_Mutation_p.V62A|C1orf131_ENST00000471936.1_5'UTR			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	62										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TGAAGCCATCACATCTCTCTT	0.443000													5	74					0	0	0.217242	0	0
SELE	6401	broad.mit.edu	37	1	169698686	169698686	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:169698686G>T	ENST00000333360.7	-	6	983	c.844C>A	c.(844-846)Cag>Aag	p.Q282K	SELE_ENST00000367774.1_Missense_Mutation_p.Q282K|SELE_ENST00000367781.4_Missense_Mutation_p.Q282K|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.Q282K|SELE_ENST00000367780.4_Missense_Mutation_p.Q220K|SELE_ENST00000367775.1_Missense_Mutation_p.Q220K|SELE_ENST00000367779.4_Missense_Mutation_p.Q282K|SELE_ENST00000367782.4_Missense_Mutation_p.Q282K|SELE_ENST00000367776.1_Missense_Mutation_p.Q282K	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	282	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGAAGGCTCTGGGCTCCCATT	0.458000													12	98					8.60227e-14	1.68471e-13	0.500413	1	0
MUC16	94025	broad.mit.edu	37	19	9056555	9056555	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:9056555G>T	ENST00000397910.4	-	3	31094	c.30891C>A	c.(30889-30891)gcC>gcA	p.A10297A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10299	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACCTGAGATGGCTCGTGGAA	0.532000													10	148					4.36969e-10	7.53505e-10	0.435327	1	0
KLK8	11202	broad.mit.edu	37	19	51503858	51503858	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:51503858G>A	ENST00000391806.2	-	3	267	c.187C>T	c.(187-189)Cct>Tct	p.P63S	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000600767.1_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	23	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGAGGGAGAGGGTTGGATCGC	0.617000													7	125					0	0	0.278610	0	0
GZMH	2999	broad.mit.edu	37	14	25076432	25076432	+	Missense_Mutation	SNP	G	G	C	rs149372387		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:25076432G>C	ENST00000216338.4	-	4	564	c.520C>G	c.(520-522)Cgt>Ggt	p.R174G	RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Intron|GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000557736.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	174	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TGGAAGAGACGTTCACACTGG	0.522000													23	288					0	0	0.667858	0	0
LDB3	11155	broad.mit.edu	37	10	88441552	88441552	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:88441552C>A	ENST00000429277.2	+	5	826	c.681C>A	c.(679-681)ctC>ctA	p.L227L	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000542786.1_Silent_p.L227L|LDB3_ENST00000310944.6_Silent_p.L227L|LDB3_ENST00000372056.4_Silent_p.L227L|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Silent_p.L227L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	227						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GTGTCGGACTCCCAGGAGGGT	0.612000													12	141					1.3612e-06	2.01333e-06	0.479597	1	0
CSMD1	64478	broad.mit.edu	37	8	2855612	2855612	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:2855612C>A	ENST00000602557.1	-	55	8856	c.8301G>T	c.(8299-8301)acG>acT	p.T2767T	CSMD1_ENST00000537824.1_Silent_p.T2766T|CSMD1_ENST00000520002.1_Silent_p.T2767T|CSMD1_ENST00000602723.1_Silent_p.T2709T|CSMD1_ENST00000542608.1_Silent_p.T2708T|CSMD1_ENST00000400186.3_Silent_p.T2709T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2767	Sushi 19.					integral to membrane		p.T2766T(1)|p.T2495T(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAAATAGCCCGTGTTGCAGG	0.557000													14	117					4.14922e-12	7.63931e-12	0.500413	1	0
OR8D4	338662	broad.mit.edu	37	11	123777682	123777682	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:123777682G>T	ENST00000321355.2	+	1	574	c.544G>T	c.(544-546)Gtc>Ttc	p.V182F		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTGTGACATTGTCCCTCTTAT	0.388000													13	302					2.48551e-13	4.78815e-13	0.520397	1	0
GOLPH3	64083	broad.mit.edu	37	5	32143957	32143957	+	Silent	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:32143957T>A	ENST00000265070.6	-	2	570	c.255A>T	c.(253-255)atA>atT	p.I85I	GOLPH3_ENST00000512668.1_Intron	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	85					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ATCCAGATGATATACAGTCAT	0.308000													8	79					0	0	0.307466	0	0
CTNNA2	1496	broad.mit.edu	37	2	80772105	80772105	+	Splice_Site	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:80772105A>T	ENST00000466387.1	+	14	2014		c.e14-1		CTNNA2_ENST00000361291.4_Splice_Site|CTNNA2_ENST00000541047.1_Splice_Site|CTNNA2_ENST00000402739.4_Splice_Site|CTNNA2_ENST00000540488.1_Splice_Site|CTNNA2_ENST00000496558.1_Splice_Site|CTNNA2_ENST00000343114.3_Splice_Site			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2						axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTTCAATACAGGTTGCCAAT	0.483000													6	61					0	0	0.278610	0	0
HCN1	348980	broad.mit.edu	37	5	45262506	45262506	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:45262506C>A	ENST00000303230.4	-	8	2247	c.2190G>T	c.(2188-2190)atG>atT	p.M730I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	730	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						gctgctgttgcATGAGTGACA	0.667000													9	40					1.08611e-07	1.67659e-07	0.387290	1	0
NSUN3	63899	broad.mit.edu	37	3	93813894	93813894	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:93813894G>T	ENST00000314622.4	+	5	850	c.639G>T	c.(637-639)ccG>ccT	p.P213P		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	213							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TGGATGCTCCGTGTTCAAATG	0.403000													6	180					8.12818e-05	0.000104294	0.248553	1	0
LRRC7	57554	broad.mit.edu	37	1	70482218	70482218	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:70482218G>T	ENST00000310961.5	+	15	1639		c.e15+1		RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACAATCAGGTAAAAGGTTT	0.308000													10	43					1.58986e-06	2.32719e-06	0.361761	1	0
CAPNS1	826	broad.mit.edu	37	19	36634015	36634015	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:36634015G>T	ENST00000246533.3	+	6	1039	c.441G>T	c.(439-441)atG>atT	p.M147I	CAPNS1_ENST00000590874.1_Missense_Mutation_p.M117I|CAPNS1_ENST00000588780.1_Missense_Mutation_p.M147I|CAPNS1_ENST00000587718.1_Missense_Mutation_p.M147I|CAPNS1_ENST00000588815.1_Missense_Mutation_p.M147I|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	147	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCGCAGCATGGTGGCCGTGA	0.512000													27	243					2.80507e-11	5.00804e-11	0.760397	1	0
PI15	51050	broad.mit.edu	37	8	75737501	75737501	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:75737501C>A	ENST00000260113.2	+	2	196	c.17C>A	c.(16-18)gCc>gAc	p.A6D	PI15_ENST00000523773.1_Missense_Mutation_p.A6D|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	6						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GCAATCTCTGCCGTCAGCAGT	0.453000													80	512					1.81764e-44	3.95407e-44	0.870114	1	0
USP24	23358	broad.mit.edu	37	1	55607342	55607342	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:55607342C>A	ENST00000294383.6	-	24	2696	c.2697G>T	c.(2695-2697)atG>atT	p.M899I	USP24_ENST00000407756.1_Missense_Mutation_p.M739I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	899					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTGCTGTAAGCATTTTTGTTG	0.428000													6	37					1.06961e-07	1.65474e-07	0.278610	1	0
APOB	338	broad.mit.edu	37	2	21228222	21228222	+	Silent	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:21228222G>A	ENST00000233242.1	-	26	11645	c.11518C>T	c.(11518-11520)Cta>Tta	p.L3840L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3840					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTGCATTTAGATCCAAAGCA	0.458000													11	142					0	0	0.411799	0	0
ASTL	431705	broad.mit.edu	37	2	96798326	96798326	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:96798326G>T	ENST00000342380.2	-	6	589	c.590C>A	c.(589-591)gCc>gAc	p.A197D		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	197					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GTCCCGGTCGGCCCGCGTGTG	0.662000													12	112					7.03913e-09	1.14144e-08	0.411799	1	0
NUDCD1	84955	broad.mit.edu	37	8	110287639	110287639	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:110287639T>G	ENST00000239690.4	-	7	1489	c.1115A>C	c.(1114-1116)gAt>gCt	p.D372A	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D343A	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	372										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CTGGGCTGAATCTCTTATAAG	0.408000													4	136					0	0	0.150653	0	0
OR2M7	391196	broad.mit.edu	37	1	248487546	248487546	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:248487546C>A	ENST00000317965.2	-	1	353	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CATTCGGAGCCAAGCAATGAT	0.453000													15	315					1.52009e-12	2.86588e-12	0.479597	1	0
PCDHA1	56147	broad.mit.edu	37	5	140168138	140168138	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:140168138C>T	ENST00000504120.2	+	1	2263	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R755W	NM_018900.2	NP_061723.1												p.R755W(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGAGGCGGCAGAGGGT	0.617000													4	64					0	0	0.184627	0	0
IQGAP1	8826	broad.mit.edu	37	15	91020971	91020971	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:91020971G>T	ENST00000268182.5	+	26	3303	c.3179G>T	c.(3178-3180)cGt>cTt	p.R1060L	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R488L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1060	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGTTTCAACCGTGGTGCCCGT	0.413000													9	133					0.00448238	0.00508675	0.307466	1	0
C4orf17	84103	broad.mit.edu	37	4	100460412	100460412	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:100460412G>T	ENST00000514652.1	+	7	1075	c.721G>T	c.(721-723)Gca>Tca	p.A241S	C4orf17_ENST00000326581.4_Missense_Mutation_p.A241S			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	241										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GGAACCAGCAGCAGAGACTGG	0.438000													9	187					0.000442599	0.000546104	0.335167	1	0
AHR	196	broad.mit.edu	37	7	17379475	17379475	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:17379475A>G	ENST00000242057.4	+	10	2669	c.2026A>G	c.(2026-2028)Aca>Gca	p.T676A		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	676					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TAATGTCTTTACAGACTTACA	0.383000													22	199					0	0	0.717897	0	0
L1CAM	3897	broad.mit.edu	37	X	153135387	153135387	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:153135387C>A	ENST00000370060.1	-	10	1183	c.994G>T	c.(994-996)Gcc>Tcc	p.A332S	L1CAM_ENST00000361699.4_Missense_Mutation_p.A332S|L1CAM_ENST00000361981.3_Missense_Mutation_p.A327S|L1CAM_ENST00000370055.1_Missense_Mutation_p.A327S|L1CAM_ENST00000370057.3_Missense_Mutation_p.A332S|L1CAM_ENST00000543994.1_Missense_Mutation_p.A334S|L1CAM_ENST00000538883.1_Missense_Mutation_p.A334S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	332					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTACGGGGCAGCTGGGAGG	0.677000													3	23					0.00909568	0.0100636	0.150653	1	0
TPP2	7174	broad.mit.edu	37	13	103280275	103280275	+	Splice_Site	SNP	G	G	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:103280275G>A	ENST00000376052.3	+	8	1032		c.e8+1		TPP2_ENST00000376065.4_Splice_Site			P29144	TPP2_HUMAN	tripeptidyl peptidase II						proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAAATTCTGGGTGAGTGTTCC	0.383000													6	67					0	0	0.278610	0	0
GALNT13	114805	broad.mit.edu	37	2	155306993	155306993	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:155306993C>G	ENST00000392825.3	+	13	2168	c.1601C>G	c.(1600-1602)cCt>cGt	p.P534R	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	534	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAAATGGTGCCTACAATGCAG	0.453000													11	85					0	0	0.411799	0	0
NELL1	4745	broad.mit.edu	37	11	21556000	21556000	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:21556000G>C	ENST00000298925.5	+	17	1963	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.E576Q|NELL1_ENST00000325319.5_Missense_Mutation_p.E519Q|NELL1_ENST00000532434.1_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	576	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTACCACTGTGAGTGCAGAAG	0.512000													3	125					0	0	0.115264	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140739882	140739882	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:140739882C>T	ENST00000522605.1	+	1	180	c.180C>T	c.(178-180)gaC>gaT	p.D60D	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTCCGGGACTTGCCAGCCC	0.552000													6	89					0	0	0.217242	0	0
MED12L	116931	broad.mit.edu	37	3	151101951	151101951	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:151101951C>A	ENST00000474524.1	+	33	4804	c.4766C>A	c.(4765-4767)cCt>cAt	p.P1589H	MED12L_ENST00000273432.4_Missense_Mutation_p.P1449H|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1589					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGCATCCCCTGGGGGATCT	0.368000													7	154					0.0293803	0.0312359	0.248553	1	0
TMTC2	160335	broad.mit.edu	37	12	83250788	83250788	+	Splice_Site	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:83250788G>T	ENST00000549919.1	+	3	1870		c.e3-1		TMTC2_ENST00000321196.3_Splice_Site|TMTC2_ENST00000548305.1_Splice_Site			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2							endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTGTTTTTTAGCCGTGCTATC	0.368000													9	107					1.58986e-06	2.32719e-06	0.361761	1	0
ZNF479	90827	broad.mit.edu	37	7	57194302	57194302	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:57194302G>T	ENST00000331162.4	-	3	433	c.163C>A	c.(163-165)Ctg>Atg	p.L55M		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCCTCACCCAGGGAGACCAGG	0.368000													7	140					2.62144e-13	5.0363e-13	0.307466	1	0
IL1RN	3557	broad.mit.edu	37	2	113890241	113890241	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:113890241C>A	ENST00000361779.3	+	6	570	c.225C>A	c.(223-225)aaC>aaA	p.N75K	IL1RN_ENST00000409930.3_Missense_Mutation_p.N109K|IL1RN_ENST00000409052.1_Missense_Mutation_p.N75K|IL1RN_ENST00000354115.2_Missense_Mutation_p.N91K|IL1RN_ENST00000259206.5_Missense_Mutation_p.N112K	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	109					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	AGGCAGTTAACATCACTGACC	0.582000									Lichen Sclerosis et Atrophicus, Familial Clustering of				5	93					0.0215528	0.0232284	0.217242	1	0
PCSK5	5125	broad.mit.edu	37	9	78771982	78771982	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:78771982G>T	ENST00000545128.1	+	11	1872	c.1334G>T	c.(1333-1335)gGa>gTa	p.G445V	PCSK5_ENST00000376752.4_Missense_Mutation_p.G445V|PCSK5_ENST00000376767.3_Missense_Mutation_p.G445V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	445	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TATGGATTTGGACTGATGGAC	0.507000													16	133					3.41278e-10	5.92835e-10	0.520397	1	0
GLB1L3	112937	broad.mit.edu	37	11	134158719	134158719	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:134158719G>T	ENST00000389887.5	+	7	3160	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	GLB1L3_ENST00000431683.2_Missense_Mutation_p.V222L			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	222					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGTCATCGCGGTGCAAGTGGA	0.498000													4	62					0.000602214	0.000727804	0.184627	1	0
SERPINA5	5104	broad.mit.edu	37	14	95053760	95053760	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:95053760C>A	ENST00000329597.7	+	3	271	c.61C>A	c.(61-63)Cgc>Agc	p.R21S	SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21S|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21S|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R21S	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	21					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCCCTTCACCGCCACCACCC	0.582000													5	117					0.014758	0.0161515	0.184627	1	0
HGF	3082	broad.mit.edu	37	7	81372700	81372700	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:81372700G>T	ENST00000222390.5	-	7	1060	c.834C>A	c.(832-834)acC>acA	p.T278T	HGF_ENST00000453411.1_Silent_p.T273T|HGF_ENST00000444829.2_Silent_p.T278T|HGF_ENST00000457544.2_Silent_p.T273T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	278	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACTCCCAGCGGGTGTGAGGGT	0.473000													10	103					1.61879e-10	2.82589e-10	0.411799	1	0
GPR179	440435	broad.mit.edu	37	17	36499492	36499492	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:36499492C>G	ENST00000342292.4	-	1	201	c.181G>C	c.(181-183)Gct>Cct	p.A61P		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	61						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A61T(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGAGATAAGCGAGGGCGGCC	0.637000													6	96					0	0	0.248553	0	0
PPHLN1	51535	broad.mit.edu	37	12	42840060	42840060	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:42840060A>T	ENST00000432191.2	+	11	1318	c.1246A>T	c.(1246-1248)Atg>Ttg	p.M416L	PPHLN1_ENST00000256678.8_Missense_Mutation_p.M345L|PPHLN1_ENST00000395568.2_Missense_Mutation_p.M440L|PPHLN1_ENST00000317560.9_Intron	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	440					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		gttccttgctatgctctctgt	0.453000													9	72					0	0	0.387290	0	0
UHMK1	127933	broad.mit.edu	37	1	162469875	162469875	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:162469875G>T	ENST00000489294.1	+	2	557	c.399G>T	c.(397-399)tgG>tgT	p.W133C	UHMK1_ENST00000538489.1_Missense_Mutation_p.W133C|UHMK1_ENST00000545294.1_Missense_Mutation_p.W59C|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	133	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GTTCCATGTGGATGATACAGC	0.468000													9	126					5.68852e-11	1.00797e-10	0.307466	1	0
LRP1B	53353	broad.mit.edu	37	2	141459778	141459778	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:141459778C>A	ENST00000389484.3	-	39	7205	c.6234G>T	c.(6232-6234)gtG>gtT	p.V2078V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2078					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTGACAGCACCATCTCGC	0.403000										TSP Lung(27;0.18)			16	214					2.35188e-11	4.20957e-11	0.539581	1	0
KRT16P3	644945	broad.mit.edu	37	17	20405910	20405910	+	RNA	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:20405910C>T	ENST00000580113.1	-	0	953																											CTATGCTGAGCTGGGACTGCA	0.567000													5	63					0	0	0.248553	0	0
CUBN	8029	broad.mit.edu	37	10	16989253	16989253	+	Missense_Mutation	SNP	G	G	A	rs1276708		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:16989253G>A	ENST00000377833.4	-	36	5388	c.5323C>T	c.(5323-5325)Cgg>Tgg	p.R1775W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1775	CUB 12.		R -> W (in dbSNP:rs1276708).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R1775W(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCTGGAGCCGGTTGCCAGGG	0.453000													4	102					0	0	0.184627	0	0
OPN1SW	611	broad.mit.edu	37	7	128413798	128413798	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:128413798G>T	ENST00000249389.2	-	4	831	c.832C>A	c.(832-834)Cat>Aat	p.H278N		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	278					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TCCAGCCCATGGTTACGGTTG	0.507000													3	28					5.9392e-07	8.97225e-07	0.217242	1	0
WWP1	11059	broad.mit.edu	37	8	87393808	87393808	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:87393808G>T	ENST00000517970.1	+	5	591	c.284G>T	c.(283-285)gGa>gTa	p.G95V	WWP1_ENST00000341922.2_Missense_Mutation_p.G95V|WWP1_ENST00000265428.4_Missense_Mutation_p.G95V|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	95	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GCTTTATTAGGAAAAGCAACG	0.318000													9	61					2.52707e-12	4.68934e-12	0.335167	1	0
MOGAT3	346606	broad.mit.edu	37	7	100839647	100839647	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:100839647G>T	ENST00000223114.4	-	6	858	c.692C>A	c.(691-693)tCc>tAc	p.S231Y	MOGAT3_ENST00000440203.2_Missense_Mutation_p.S231Y|MOGAT3_ENST00000379423.3_Intron	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	231					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CTCCCCAAAGGAGTACACGGG	0.582000													5	38					0.0293803	0.0312359	0.248553	1	0
HIVEP2	3097	broad.mit.edu	37	6	143095831	143095831	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:143095831C>A	ENST00000367603.2	-	5	787	c.45G>T	c.(43-45)agG>agT	p.R15S	HIVEP2_ENST00000367604.1_Missense_Mutation_p.R15S|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R15S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTCTCCAGACCTTGAGGTAG	0.463000													10	240					3.86212e-05	5.10377e-05	0.361761	1	0
USH2A	7399	broad.mit.edu	37	1	216173815	216173815	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:216173815C>A	ENST00000366943.2	-	33	6801	c.6415G>T	c.(6415-6417)Gca>Tca	p.A2139S	USH2A_ENST00000307340.3_Missense_Mutation_p.A2139S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2139					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCAGCTGTGCTGTGTACAGT	0.463000										HNSCC(13;0.011)			10	80					1.58986e-06	2.32719e-06	0.361761	1	0
EFCAB5	374786	broad.mit.edu	37	17	28407923	28407923	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:28407923G>T	ENST00000394835.3	+	17	3542	c.3350G>T	c.(3349-3351)gGg>gTg	p.G1117V	EFCAB5_ENST00000320856.5_Missense_Mutation_p.G993V|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1117							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGGATCTTTGGGGTCTTGGCT	0.418000													16	85					6.94344e-10	1.1829e-09	0.539581	1	0
TLR8	51311	broad.mit.edu	37	X	12937818	12937818	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:12937818T>A	ENST00000218032.6	+	2	746	c.659T>A	c.(658-660)cTg>cAg	p.L220Q	TLR8_ENST00000311912.5_Missense_Mutation_p.L238Q	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	220					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCACCCAAACTGCCAAGCTCC	0.368000													25	156					0	0	0.706142	0	0
TMTC1	83857	broad.mit.edu	37	12	29689123	29689123	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:29689123T>A	ENST00000381224.2	-	13	2139	c.1666A>T	c.(1666-1668)Agt>Tgt	p.S556C	TMTC1_ENST00000551659.1_Intron|TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000539277.1_Intron|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000319685.8_Intron			Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	0						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGAAAAAAACTACTGTGTGAA	0.323000													7	108					0	0	0.248553	0	0
MEPE	56955	broad.mit.edu	37	4	88766510	88766510	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr4:88766510C>A	ENST00000497649.2	+	6	796	c.418C>A	c.(418-420)Ctg>Atg	p.L140M	MEPE_ENST00000540395.1_Missense_Mutation_p.L51M|MEPE_ENST00000560249.1_Missense_Mutation_p.L51M|MEPE_ENST00000395102.4_Missense_Mutation_p.L195M|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.L164M|MEPE_ENST00000424957.3_Missense_Mutation_p.L164M			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	164					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GATTAAACTCCTGGGGGAAGA	0.408000													6	90					5.4927e-09	9.01007e-09	0.307466	1	0
SSTR3	6753	broad.mit.edu	37	22	37602624	37602624	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr22:37602624C>G	ENST00000328544.3	-	2	1752	c.1219G>C	c.(1219-1221)Ggg>Cgg	p.G407R	SSTR3_ENST00000402501.1_Missense_Mutation_p.G407R	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	407					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GACTTCTCCCCAGTGGAAGCC	0.662000													6	120					0	0	0.278610	0	0
CCT5	22948	broad.mit.edu	37	5	10250480	10250480	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:10250480G>C	ENST00000280326.4	+	1	448	c.28G>C	c.(28-30)Gat>Cat	p.D10H	CCT5_ENST00000503026.1_Intron|CCT5_ENST00000515390.1_Missense_Mutation_p.D10H	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	10					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CCTCGCCTTCGATGAATATGG	0.577000													5	79					0	0	0.217242	0	0
NOX1	27035	broad.mit.edu	37	X	100103702	100103702	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chrX:100103702G>T	ENST00000372966.3	-	12	1690	c.1485C>A	c.(1483-1485)atC>atA	p.I495I	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Silent_p.I458I|NOX1_ENST00000217885.5_Silent_p.I446I	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	495	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GACCTGTCACGATGTCAGTGG	0.453000													8	163					1.12685e-05	1.55299e-05	0.307466	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140737050	140737050	+	Silent	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:140737050G>C	ENST00000571252.1	+	1	2283	c.2283G>C	c.(2281-2283)gcG>gcC	p.A761A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCACCGCGGACTCGCGGA	0.592000													30	210					0	0	0.804634	0	0
NKTR	4820	broad.mit.edu	37	3	42680902	42680902	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:42680902G>T	ENST00000232978.8	+	13	3894	c.3706G>T	c.(3706-3708)Gca>Tca	p.A1236S	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1236					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGGGAACCTGGCAGCACCTAA	0.483000													6	84					0.217242	0.223242	0.217242	1	0
CD6	923	broad.mit.edu	37	11	60783219	60783219	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:60783219C>A	ENST00000313421.7	+	9	1608	c.1422C>A	c.(1420-1422)ccC>ccA	p.P474P	CD6_ENST00000452451.2_Intron|CD6_ENST00000352009.5_Silent_p.P442P|CD6_ENST00000346437.4_Intron|CD6_ENST00000344028.5_Silent_p.P442P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	474					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGGCCCCGCCCCCTGAGGACT	0.602000													14	232					1.15088e-07	1.76501e-07	0.500413	1	0
SLC1A6	6511	broad.mit.edu	37	19	15064962	15064962	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr19:15064962T>G	ENST00000430939.2	-	7	1286	c.1157A>C	c.(1156-1158)cAg>cCg	p.Q386P	SLC1A6_ENST00000221742.3_Missense_Mutation_p.Q450P|SLC1A6_ENST00000600144.1_Missense_Mutation_p.Q372P			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	450					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGTTGTGATCTGACCCAGGTT	0.602000													10	90					0	0	0.361761	0	0
KCNK9	51305	broad.mit.edu	37	8	140630863	140630863	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr8:140630863G>T	ENST00000520439.1	-	2	826	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	KCNK9_ENST00000303015.1_Silent_p.R255R			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	255						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCATCCCGCCGCTCATCCTCA	0.602000													6	66					0.000157383	0.000198342	0.278610	1	0
ADCY5	111	broad.mit.edu	37	3	123014997	123014997	+	Silent	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:123014997C>T	ENST00000462833.1	-	17	4209	c.2997G>A	c.(2995-2997)ctG>ctA	p.L999L	ADCY5_ENST00000491190.1_Silent_p.L657L|ADCY5_ENST00000309879.5_Silent_p.L649L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	999					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGTACAGGGCCAGCACAAAGA	0.642000													11	143					0	0	0.387290	0	0
SEZ6	124925	broad.mit.edu	37	17	27287971	27287971	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:27287971G>C	ENST00000317338.12	-	6	1689	c.1261C>G	c.(1261-1263)Cgc>Ggc	p.R421G	SEZ6_ENST00000360295.9_Missense_Mutation_p.R421G|SEZ6_ENST00000335960.6_Missense_Mutation_p.R421G|SEZ6_ENST00000442608.3_Missense_Mutation_p.R421G|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	421	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGCATTGCGGATCACTCCG	0.627000													25	221					0	0	0.693898	0	0
KCNA10	3744	broad.mit.edu	37	1	111060225	111060225	+	Silent	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:111060225A>G	ENST00000369771.2	-	1	1572	c.1185T>C	c.(1183-1185)ttT>ttC	p.F395F		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	395						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCACCTCAGCAAAGTAGACTG	0.527000													4	70					0	0	0.150653	0	0
STAM	8027	broad.mit.edu	37	10	17756752	17756752	+	Silent	SNP	A	A	G			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:17756752A>G	ENST00000377524.3	+	14	1811	c.1596A>G	c.(1594-1596)caA>caG	p.Q532Q	STAM_ENST00000540523.1_Silent_p.Q421Q	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	532					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AGCCACAGCAACCATATTCTC	0.483000													8	242					0	0	0.435327	0	0
GPR61	83873	broad.mit.edu	37	1	110086322	110086322	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:110086322G>T	ENST00000527748.1	+	2	1361	c.678G>T	c.(676-678)gtG>gtT	p.V226V	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	226				V -> L (in Ref. 1; AAK12637).		integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCATACTTGTGGTCTACTGCA	0.592000													16	245					1.2644e-06	1.87428e-06	0.592651	1	0
C12orf5	57103	broad.mit.edu	37	12	4461598	4461598	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:4461598G>T	ENST00000179259.4	+	6	621	c.554G>T	c.(553-555)gGt>gTt	p.G185V		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	185						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	p.G185D(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TCAGACAGCGGTATTCCAGGA	0.408000													6	133					8.12818e-05	0.000104294	0.248553	1	0
CAPN13	92291	broad.mit.edu	37	2	30966322	30966322	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:30966322C>A	ENST00000295055.8	-	13	1548	c.1372G>T	c.(1372-1374)Gtg>Ttg	p.V458L	CAPN13_ENST00000534090.2_Missense_Mutation_p.V458L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	458					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTGCAACCACAACATAGTTC	0.458000													36	348					6.70999e-13	1.27184e-12	0.796494	1	0
OR10G8	219869	broad.mit.edu	37	11	123900848	123900848	+	Silent	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:123900848C>A	ENST00000431524.1	+	1	552	c.519C>A	c.(517-519)atC>atA	p.I173I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCAACTGGATCCAGCACTATT	0.522000													15	267					2.4624e-09	4.12539e-09	0.575678	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136103	40136103	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:40136103G>T	ENST00000278198.2	-	2	3703	c.1740C>A	c.(1738-1740)ccC>ccA	p.P580P	LRRC4C_ENST00000528697.1_Silent_p.P580P|LRRC4C_ENST00000527150.1_Silent_p.P580P|LRRC4C_ENST00000530763.1_Silent_p.P580P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	580					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGCTTTCCATGGGTGTGTCTC	0.453000													5	152					0.0293803	0.0312359	0.248553	1	0
SLC22A9	114571	broad.mit.edu	37	11	63141190	63141190	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:63141190C>A	ENST00000279178.3	+	3	830	c.581C>A	c.(580-582)cCc>cAc	p.P194H	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	194					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GCCTTGGCTCCCACCTTCCTC	0.458000													14	125					4.14922e-12	7.63931e-12	0.500413	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702459	27702459	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr10:27702459C>A	ENST00000438700.3	-	1	838	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	241					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCCGCGCCACGCGCAGATCC	0.627000													4	50					0.000602214	0.000727804	0.184627	1	0
BRINP1	1620	broad.mit.edu	37	9	121929910	121929910	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:121929910C>T	ENST00000265922.3	-	8	2199	c.1738G>A	c.(1738-1740)Ggg>Agg	p.G580R	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		580					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CCAAATTCCCCGAAGGGCATG	0.542000													10	103					0	0	0.361761	0	0
BIRC7	79444	broad.mit.edu	37	20	61870741	61870741	+	Silent	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr20:61870741G>T	ENST00000217169.3	+	6	895	c.681G>T	c.(679-681)gcG>gcT	p.A227A	BIRC7_ENST00000342412.6_Intron|BIRC7_ENST00000395306.1_Intron	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	227					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCCAGAGGGCGTGGTGGGTTC	0.687000													11	81					2.80697e-09	4.66948e-09	0.387290	1	0
DIP2B	57609	broad.mit.edu	37	12	51074453	51074453	+	Splice_Site	SNP	A	A	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr12:51074453A>T	ENST00000301180.5	+	9	1148		c.e9-1			NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)							nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTTTTTTTCCAGGAAAGTTGT	0.358000													26	173					0	0	0.750413	0	0
ADAL	161823	broad.mit.edu	37	15	43641162	43641162	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr15:43641162G>T	ENST00000422466.2	+	11	1265	c.691G>T	c.(691-693)Ggg>Tgg	p.G231W	ADAL_ENST00000562188.1_Missense_Mutation_p.G231W|ADAL_ENST00000389651.4_Missense_Mutation_p.G231W|ADAL_ENST00000428046.3_Missense_Mutation_p.G204W			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	231					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TGACAGAATCGGGCATGGAAC	0.478000													6	97					0.0381472	0.0402539	0.278610	1	0
PTGS1	5742	broad.mit.edu	37	9	125140827	125140827	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr9:125140827G>T	ENST00000362012.2	+	4	332	c.327G>T	c.(325-327)gaG>gaT	p.E109D	PTGS1_ENST00000223423.4_Missense_Mutation_p.E109D|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Missense_Mutation_p.E84D	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	109					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TCATCCGAGAGATGCTCATGC	0.602000													4	63					0.014758	0.0161515	0.184627	1	0
CDH9	1007	broad.mit.edu	37	5	26915964	26915964	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:26915964A>C	ENST00000231021.4	-	3	469	c.297T>G	c.(295-297)agT>agG	p.S99R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	99	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TAACAAATAGACTGCCAGCCC	0.373000													17	160					0	0	0.520397	0	0
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													8	326	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													12	147	---	---	---	---					
CCDC141	285025	broad.mit.edu	37	2	179720151	179720151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr2:179720151delC	ENST00000420890.2	-	19	3100	c.2983delG	c.(2983-2985)atfs	p.D996fs	CCDC141_ENST00000295723.5_Frame_Shift_Del_p.D421fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	421							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAAAGTCATCCACATGTTTT	0.348													10	177	---	---	---	---					
IL12A-AS1	101928376	broad.mit.edu	37	3	159820109	159820109	+	RNA	DEL	A	A	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr3:159820109delA	ENST00000497452.1	-	0	517																											TTGACACAGCAAAAAAAAATG	0.443													7	97	---	---	---	---					
IL7R	3575	broad.mit.edu	37	5	35861072	35861073	+	Frame_Shift_Ins	INS	-	-	A			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:35861072_35861073insA	ENST00000303115.3	+	2	330_331	c.201_202insA	c.(199-204)acatctfs	p.S68fs	IL7R_ENST00000343305.4_Frame_Shift_Ins_p.S68fs|IL7R_ENST00000506850.1_Frame_Shift_Ins_p.S68fs|IL7R_ENST00000511982.1_Frame_Shift_Ins_p.S68fs|IL7R_ENST00000511031.1_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	68					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCAACATCACCAATCTGGAATT	0.416			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						58	299	---	---	---	---					
LEAP2	116842	broad.mit.edu	37	5	132209257	132209257	+	Translation_Start_Site	DEL	T	T	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:132209257delT	ENST00000296877.2	+	0	1244					NM_052971.2	NP_443203.1	Q969E1	LEAP2_HUMAN	liver expressed antimicrobial peptide 2						defense response to bacterium	extracellular region				NS(1)|endometrium(1)	2		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTTATTAAATTGATTCTGAT	0.413													2	4	---	---	---	---					
KCTD16	57528	broad.mit.edu	37	5	143853531	143853531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr5:143853531delA	ENST00000507359.2	+	3	2232	c.1141delA	c.(1141-1143)aafs	p.K383fs	KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	383						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATGAGCAGCAAAAAAAAAGC	0.468													7	124	---	---	---	---					
FOXO3	2309	broad.mit.edu	37	6	108882648	108882650	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:108882648_108882650delCGG	ENST00000406360.1	+	1	580_582	c.237_239delCGG	c.(235-240)atc>at	p.IG79del	FOXO3_ENST00000343882.6_In_Frame_Del_p.IG79del	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	79					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCATGGCGATCGGCGGCGGCGGC	0.759													2	4	---	---	---	---					
ECT2L	345930	broad.mit.edu	37	6	139175168	139175169	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr6:139175168_139175169delAA	ENST00000423192.1	+	9	1236_1237	c.1075_1076delAA	c.(1075-1077)afs	p.K359fs	ECT2L_ENST00000367682.2_Frame_Shift_Del_p.K359fs|ECT2L_ENST00000541398.1_Frame_Shift_Del_p.K290fs|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	359					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTCAGGCTATAAAATTGGTGTT	0.356			"""N, Splice, Mis"""		ETP ALL								11	198	---	---	---	---					
STAG3	10734	broad.mit.edu	37	7	99802723	99802723	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr7:99802723delC	ENST00000426455.1	+	28	3454	c.3047delC	c.(3046-3048)tcfs	p.S1016fs	STAG3_ENST00000317296.5_Frame_Shift_Del_p.S1016fs|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Frame_Shift_Del_p.S958fs|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1016					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGAGTTTTCCCCCCGACTC	0.547													37	478	---	---	---	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	163	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40137234	40137235	+	Frame_Shift_Ins	INS	-	-	T			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:40137234_40137235insT	ENST00000278198.2	-	2	2571_2572	c.608_609insA	c.(607-609)actfs	p.T203fs	LRRC4C_ENST00000530763.1_Frame_Shift_Ins_p.T203fs|LRRC4C_ENST00000528697.1_Frame_Shift_Ins_p.T203fs|LRRC4C_ENST00000527150.1_Frame_Shift_Ins_p.T203fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	203					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACATGGCAAGGTTCAAATACCT	0.450													9	133	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													7	233	---	---	---	---					
CSNK1A1L	122011	broad.mit.edu	37	13	37679211	37679211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr13:37679211delG	ENST00000379800.3	-	1	592	c.183delC	c.(181-183)agfs	p.S61fs		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	61	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TGTAGAGTTTGCTCTCATACA	0.517													10	194	---	---	---	---					
RP11-305B6.3	0	broad.mit.edu	37	14	44589912	44589912	+	RNA	DEL	G	G	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr14:44589912delG	ENST00000553827.1	-	0	69																											ATCATCATCTGGGGAGGCTGA	0.498													8	89	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													8	114	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													4	4	---	---	---	---					
MIEN1	84299	broad.mit.edu	37	17	37885932	37885935	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-99-8028-01A-11D-2238-08	TCGA-99-8028-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9a848bb-c3c5-46d0-951d-64bd56486703	1c715bb3-15ee-4f54-9648-30879d2a4ced	g.chr17:37885932_37885935delACTC	ENST00000577810.1	-	3	281_284	c.267_270delGAGT	c.(265-270)gtfs	p.VS89fs	MIEN1_ENST00000394231.3_Intron|ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000474210.1_Intron	NM_032339.3	NP_115715.3	Q9BRT3	CQ037_HUMAN	migration and invasion enhancer 1	89					cell redox homeostasis	cytosol|membrane	selenium binding										CGCTGTAAATACTCACATCTTTCT	0.485													12	362	---	---	---	---					
