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
FANCC	2176	broad.mit.edu	37	9	98011545	98011545	+	Missense_Mutation	SNP	C	C	T	rs143152201	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:98011545C>T	ENST00000289081.3	-	2	283	c.29G>A	c.(28-30)tGt>tAt	p.C10Y	FANCC_ENST00000375305.1_Missense_Mutation_p.C10Y	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	10					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CTGATAATCACAAGAAAGATC	0.478000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	9					0	0	0.004990	0	0
HERC2	8924	broad.mit.edu	37	15	28357012	28357012	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:28357012A>C	ENST00000261609.7	-	93	14510	c.14402T>G	c.(14401-14403)cTt>cGt	p.L4801R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4801					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTCCTGTAAGTGCGATGCG	0.527000													23	53					0	0	0.002780	0	0
TSIX	9383	broad.mit.edu	37	X	73042039	73042039	+	RNA	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:73042039C>T	ENST00000604411.1	+	0	30000				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGTCATTTTTCATGAGGGATG	0.468000													16	10					0	0	0.004990	0	0
MURC	347273	broad.mit.edu	37	9	103348551	103348551	+	Missense_Mutation	SNP	C	C	A	rs148950537		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:103348551C>A	ENST00000307584.5	+	2	978	c.913C>A	c.(913-915)Ccc>Acc	p.P305T		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	305					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GTCTCTGGGCCCCATCAGTGA	0.587000													5	62					0.00307968	0.00847295	0.003080	1	0
ZNF654	55279	broad.mit.edu	37	3	88189761	88189761	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:88189761G>C	ENST00000309495.5	+	1	1508	c.1301G>C	c.(1300-1302)aGt>aCt	p.S434T	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AATGGACACAGTGAAATAGAG	0.353000													36	31					0	0	0.003755	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237176	5237176	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:5237176G>A	ENST00000274181.7	+	14	2256	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATGCTCGGAGGATAGCCGTA	0.388000													36	60					0	0	0.004878	0	0
USP4	7375	broad.mit.edu	37	3	49329942	49329942	+	Splice_Site	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:49329942C>G	ENST00000351842.4	-	14	1840		c.e14+1		USP4_ENST00000265560.4_Splice_Site	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)						negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCATACTCACCTTCACAGCT	0.512000													5	3					0	0	0.000602	0	0
DRP2	1821	broad.mit.edu	37	X	100497390	100497390	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:100497390C>G	ENST00000395209.3	+	8	1432	c.905C>G	c.(904-906)tCt>tGt	p.S302C	DRP2_ENST00000541709.1_Missense_Mutation_p.S224C|DRP2_ENST00000538510.1_Missense_Mutation_p.S302C|DRP2_ENST00000402866.1_Missense_Mutation_p.S302C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	302					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						CTTGCCATTTCTGATGTGCAC	0.498000													93	43					0	0	0.003610	0	0
DLC1	10395	broad.mit.edu	37	8	13356766	13356766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:13356766G>A	ENST00000276297.4	-	2	1224	c.815C>T	c.(814-816)aCa>aTa	p.T272I	DLC1_ENST00000511869.1_Missense_Mutation_p.T272I|DLC1_ENST00000316609.5_Missense_Mutation_p.T272I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	272					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCAAAATCTGTTTTTAATAA	0.428000													15	153					0	0	0.001882	0	0
CLMN	79789	broad.mit.edu	37	14	95660246	95660246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:95660246C>G	ENST00000298912.4	-	12	2893	c.2780G>C	c.(2779-2781)aGc>aCc	p.S927T	CLMN_ENST00000556441.1_5'UTR|CLMN_ENST00000557215.1_5'UTR	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	927						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGAACATAGCTAAAATGATC	0.378000													7	50					0	0	0.003080	0	0
DKK2	27123	broad.mit.edu	37	4	107956552	107956552	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:107956552C>G	ENST00000285311.3	-	1	902	c.197G>C	c.(196-198)aGt>aCt	p.S66T	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	66					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCTTCTTACTGCCGCCGAA	0.577000													14	34					0	0	0.002450	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551507	1551507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:1551507C>T	ENST00000381605.4	-	4	1092	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	343	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGGCATAGCTTTTGCTGAC	0.512000													31	125					0	0	0.003755	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169690790	169690790	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:169690790T>C	ENST00000444448.2	+	9	935	c.459T>C	c.(457-459)ctT>ctC	p.L153L	NOSTRIN_ENST00000458381.2_Silent_p.L153L|NOSTRIN_ENST00000421711.2_Silent_p.L125L|NOSTRIN_ENST00000397206.2_Silent_p.L75L|NOSTRIN_ENST00000397209.2_Silent_p.L125L|NOSTRIN_ENST00000317647.7_Silent_p.L153L|NOSTRIN_ENST00000445023.2_Silent_p.L75L			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	153					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTTTCCAGCTTGTAGAAAGCT	0.443000													9	28					0	0	0.000443	0	0
QSOX1	5768	broad.mit.edu	37	1	180135628	180135628	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:180135628T>C	ENST00000367602.3	+	2	342	c.268T>C	c.(268-270)Tgg>Cgg	p.W90R	QSOX1_ENST00000367600.5_Missense_Mutation_p.W90R			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	90	Thioredoxin.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTTCAGCCTGGAGGCCGGC	0.592000													3	70					0	0	0.000602	0	0
KDM1A	23028	broad.mit.edu	37	1	23385657	23385657	+	Silent	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:23385657A>G	ENST00000400181.4	+	9	1268	c.1164A>G	c.(1162-1164)caA>caG	p.Q388Q	KDM1A_ENST00000356634.3_Silent_p.Q368Q|KDM1A_ENST00000542151.1_Silent_p.Q388Q|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	368	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCAACGGACAAGCTGTAAGTC	0.383000													3	14					0	0	0.004672	0	0
SAP130	79595	broad.mit.edu	37	2	128712714	128712714	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:128712714C>T	ENST00000357702.5	-	16	2477	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	SAP130_ENST00000259235.3_Silent_p.A747A|SAP130_ENST00000259234.6_Silent_p.A755A	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	747	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.A747A(1)|p.A782A(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGATGGGGACCGCTCCAGGAA	0.607000													13	75					0	0	0.002450	0	0
PRR14	78994	broad.mit.edu	37	16	30667619	30667619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:30667619C>T	ENST00000542965.2	+	11	2201	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	PRR14_ENST00000300835.4_Missense_Mutation_p.P582L			Q9BWN1	PRR14_HUMAN	proline rich 14	582										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CGGGAGCAGCCCCACTGGACC	0.537000													10	65					0	0	0.000673	0	0
OTX1	5013	broad.mit.edu	37	2	63283436	63283436	+	Silent	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:63283436G>T	ENST00000282549.2	+	5	1326	c.1050G>T	c.(1048-1050)cgG>cgT	p.R350R	OTX1_ENST00000366671.3_Silent_p.R350R	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	350						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCTCATGGCGGTTCCAGGTCT	0.592000													6	34					2.0095e-06	5.7281e-06	0.001984	1	0
PROX1	5629	broad.mit.edu	37	1	214184888	214184888	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:214184888C>G	ENST00000366958.4	+	4	2466	c.1858C>G	c.(1858-1860)Ctc>Gtc	p.L620V	PROX1_ENST00000261454.4_Missense_Mutation_p.L620V|PROX1_ENST00000435016.1_Missense_Mutation_p.L620V|PROX1_ENST00000498508.2_Missense_Mutation_p.L620V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	620					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TACCTCTCAGCTCATCAAGTG	0.373000													3	74					0	0	0.004672	0	0
CACNA1D	776	broad.mit.edu	37	3	53804530	53804530	+	Missense_Mutation	SNP	G	G	A	rs148194645		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:53804530G>A	ENST00000288139.3	+	33	4173	c.4055G>A	c.(4054-4056)aGg>aAg	p.R1352K	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1332K|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R224K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1317K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1332					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTTCTCAGCAGGGGGGAAGGC	0.448000													25	22					0	0	0.002780	0	0
KLHL17	339451	broad.mit.edu	37	1	899313	899313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:899313G>A	ENST00000338591.3	+	9	1476	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	457	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGAACGCTACGACCCCCTGAC	0.687000													32	113					0	0	0.003755	0	0
TNN	63923	broad.mit.edu	37	1	175067683	175067683	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:175067683C>A	ENST00000239462.4	+	9	2184	c.2071C>A	c.(2071-2073)Cag>Aag	p.Q691K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	691	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGTGTGGGCCCAGAAGGGGGA	0.602000													35	33					7.11191e-15	2.13744e-14	0.002836	1	0
RHOT2	89941	broad.mit.edu	37	16	721109	721109	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:721109A>G	ENST00000315082.4	+	11	889	c.775A>G	c.(775-777)Atc>Gtc	p.I259V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	259					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CACGCTCTTCATCCAGCGCGG	0.657000													19	45					0	0	0.001523	0	0
EHMT2	10919	broad.mit.edu	37	6	31855962	31855962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:31855962G>A	ENST00000395728.3	-	12	1771	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	EHMT2_ENST00000375528.4_Missense_Mutation_p.P557L|EHMT2_ENST00000375530.4_Missense_Mutation_p.P500L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.P534L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	534					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCCACAGTGGGGACAGAAGAC	0.652000													9	37					0	0	0.000673	0	0
ZNF764	92595	broad.mit.edu	37	16	30567359	30567359	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:30567359G>A	ENST00000395091.2	-	3	695	c.380C>T	c.(379-381)gCc>gTc	p.A127V	ZNF764_ENST00000252797.2_Missense_Mutation_p.A128V|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGACCCGGCGGCCACAGGGTC	0.632000													14	83					0	0	0.004990	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791124	106791124	+	RNA	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:106791124A>G	ENST00000390613.2	-	0	311																											TCTGCATAGTATTTATTACTT	0.512000													13	787					0	0	0.003610	0	0
PIK3R2	5296	broad.mit.edu	37	19	18278008	18278008	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:18278008A>T	ENST00000593731.1	+	13	2188	c.1628A>T	c.(1627-1629)gAg>gTg	p.E543V	PIK3R2_ENST00000222254.7_Missense_Mutation_p.E543V			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	543					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						ACGAAGCTGGAGCAGCAGCTG	0.637000													22	29					0	0	0.002299	0	0
MROH2B	133558	broad.mit.edu	37	5	41054880	41054880	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:41054880G>T	ENST00000399564.4	-	11	1546	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTTGTACTGAGATCACCCATG	0.363000													39	74					3.09479e-21	9.45534e-21	0.001485	1	0
ZNF205	7755	broad.mit.edu	37	16	3169975	3169975	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:3169975C>T	ENST00000382192.3	+	7	1519	c.1314C>T	c.(1312-1314)caC>caT	p.H438H	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.H438H|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TAGTCACCCACCAGCGCACCC	0.657000													21	59					0	0	0.001882	0	0
CBX2	84733	broad.mit.edu	37	17	77758172	77758172	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:77758172G>A	ENST00000310942.4	+	5	1034	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	310					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAATCCCGAAGGCCCCCAGCG	0.682000													6	33					0	0	0.001168	0	0
OR5H15	403274	broad.mit.edu	37	3	97888271	97888271	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:97888271C>A	ENST00000356526.2	+	1	728	c.728C>A	c.(727-729)gCc>gAc	p.A243D		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACCTGTGGAGCCCATCTCTTC	0.428000													21	65					1.1804e-14	3.52843e-14	0.003954	1	0
AFF2	2334	broad.mit.edu	37	X	147733537	147733537	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:147733537G>T	ENST00000370460.2	+	2	544	c.65G>T	c.(64-66)cGt>cTt	p.R22L	AFF2_ENST00000342251.3_Missense_Mutation_p.R22L|AFF2_ENST00000370457.5_Missense_Mutation_p.R22L|AFF2_ENST00000370458.1_Missense_Mutation_p.R22L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	22					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)					GAACAAGACCGTAGTGCACTT	0.363000													68	31					3.61678e-42	1.12999e-41	0.003610	1	0
APOBR	55911	broad.mit.edu	37	16	28506581	28506581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:28506581C>G	ENST00000564831.1	+	2	252	c.219C>G	c.(217-219)agC>agG	p.S73R	CLN3_ENST00000567160.1_5'UTR|APOBR_ENST00000431282.1_Missense_Mutation_p.S73R|APOBR_ENST00000328423.5_Missense_Mutation_p.S73R|CLN3_ENST00000569430.1_Intron	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	73					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TTAGAGGCAGCCAAAACGAGG	0.617000													9	4					0	0	0.004482	0	0
TSHR	7253	broad.mit.edu	37	14	81610332	81610332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:81610332G>T	ENST00000541158.2	+	11	2252	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A644S			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	644					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTCATTCTATGCTCTGTCAGC	0.458000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						58	98					1.61742e-36	5.02489e-36	0.003610	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84607724	84607724	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:84607724T>C	ENST00000344803.2	+	4	2386	c.2339T>C	c.(2338-2340)gTc>gCc	p.V780A		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAGGAGACTGTCCCAAAAGAT	0.473000													30	42					0	0	0.003271	0	0
PDE8B	8622	broad.mit.edu	37	5	76714063	76714063	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:76714063G>A	ENST00000264917.5	+	18	1966	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	PDE8B_ENST00000342343.4_Missense_Mutation_p.D621N|PDE8B_ENST00000346042.3_Missense_Mutation_p.D544N|PDE8B_ENST00000333194.4_Missense_Mutation_p.D586N|PDE8B_ENST00000505283.1_Missense_Mutation_p.D106N|PDE8B_ENST00000340978.3_Missense_Mutation_p.D594N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	641	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGGAAGCCTCGATCAGTTGGA	0.577000													11	24					0	0	0.000673	0	0
GRID2	2895	broad.mit.edu	37	4	94031921	94031921	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:94031921C>T	ENST00000282020.4	+	4	810	c.552C>T	c.(550-552)ttC>ttT	p.F184F	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.F89F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	184					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TACAGGAGTTCTTGGACAAAG	0.383000													20	71					0	0	0.003330	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423997	33423997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:33423997G>A	ENST00000395064.2	+	2	1388	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	374	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGTGAAGCTAGGGGGGACACC	0.587000													10	19					0	0	0.000443	0	0
KRT31	3881	broad.mit.edu	37	17	39553595	39553595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:39553595C>T	ENST00000251645.2	-	1	249	c.197G>A	c.(196-198)cGc>cAc	p.R66H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	66	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCTGGCCAGGCGGTCGTTCAG	0.612000													41	86					0	0	0.002522	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723128	72723128	+	Splice_Site	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:72723128C>T	ENST00000377182.4	+	3	767	c.148_splice	c.e3-1	p.G50_splice	MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	50	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTTTCCAGGCCATTACATTT	0.448000													8	51					0	0	0.004482	0	0
CCDC64	92558	broad.mit.edu	37	12	120502659	120502659	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:120502659G>T	ENST00000397558.2	+	4	885	c.885G>T	c.(883-885)agG>agT	p.R295S	CCDC64_ENST00000446727.2_Missense_Mutation_p.R39S	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	295					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTGGAGAGGCAGGGCCATG	0.547000													56	91					1.93748e-29	5.95237e-29	0.003610	1	0
SLC44A5	204962	broad.mit.edu	37	1	75688097	75688097	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:75688097A>C	ENST00000370855.5	-	14	1147	c.1034T>G	c.(1033-1035)tTc>tGc	p.F345C	SLC44A5_ENST00000535611.1_Missense_Mutation_p.F215C|SLC44A5_ENST00000370859.3_Missense_Mutation_p.F345C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	345						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATTCCTGAGGAAGATCAGCAT	0.388000													30	30					0	0	0.002096	0	0
NSD1	64324	broad.mit.edu	37	5	176673717	176673717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:176673717C>T	ENST00000439151.2	+	10	4462	c.4417C>T	c.(4417-4419)Cga>Tga	p.R1473*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1204*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1370*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1204*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1473					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAGCGAAAACGACAGAGGCA	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			33	24					0	0	0.002445	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738294	138738294	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:138738294G>A	ENST00000242351.5	-	12	2668	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	ZC3HAV1_ENST00000464606.1_Silent_p.L906L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	784	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CATAAAATAGGAGTTTTCCTT	0.383000													18	39					0	0	0.004990	0	0
ABCB7	22	broad.mit.edu	37	X	74334622	74334622	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:74334622T>A	ENST00000253577.3	-	2	240	c.216A>T	c.(214-216)aaA>aaT	p.K72N	ABCB7_ENST00000373394.3_Missense_Mutation_p.K71N|ABCB7_ENST00000339447.4_Missense_Mutation_p.K71N	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	71					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						CTGAATTGCCTTTTCCCAATC	0.388000													16	8					0	0	0.001216	0	0
ZNF517	340385	broad.mit.edu	37	8	146033063	146033063	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:146033063C>T	ENST00000359971.3	+	5	869	c.762C>T	c.(760-762)gtC>gtT	p.V254V	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000531720.1_Silent_p.V254V|ZNF517_ENST00000525105.1_Intron	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACCACCGCGTCCACACCCGCG	0.692000													10	16					0	0	0.000673	0	0
SOX8	30812	broad.mit.edu	37	16	1035026	1035026	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:1035026G>A	ENST00000293894.3	+	3	1096	c.981G>A	c.(979-981)tcG>tcA	p.S327S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	327					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCTCCGCGTCGCCCACCGAGA	0.756000													5	7					0	0	0.001168	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947901	68947901	+	Silent	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:68947901A>C	ENST00000456315.2	-	8	1704	c.1590T>G	c.(1588-1590)gcT>gcG	p.A530A	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	530					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TGATAATTTCAGCCACTGGTG	0.388000													44	152					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10303904	10303904	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:10303904C>G	ENST00000403437.2	-	27	3632	c.3538G>C	c.(3538-3540)Gac>Cac	p.D1180H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1180					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTCCAGGTCCCTGCGCAGT	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				52	109					0	0	0.003610	0	0
KIF18B	146909	broad.mit.edu	37	17	43004426	43004426	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:43004426G>A	ENST00000587309.1	-	14	2356	c.2333C>T	c.(2332-2334)aCc>aTc	p.T778I	KIF18B_ENST00000590129.1_Missense_Mutation_p.T787I|KIF18B_ENST00000438933.2_Missense_Mutation_p.T778I|KIF18B_ENST00000339151.4_Missense_Mutation_p.T769I|KIF18B_ENST00000593135.1_Missense_Mutation_p.T766I	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCCCTTCATGGTGAACAGGGG	0.632000													13	24					0	0	0.004990	0	0
ILDR2	387597	broad.mit.edu	37	1	166927307	166927307	+	Silent	SNP	G	G	A	rs143548938		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:166927307G>A	ENST00000271417.3	-	2	133	c.78C>T	c.(76-78)ccC>ccT	p.P26P	ILDR2_ENST00000528703.1_Silent_p.P26P|ILDR2_ENST00000529071.1_Silent_p.P26P|ILDR2_ENST00000469934.2_Silent_p.P26P|ILDR2_ENST00000526687.1_Silent_p.P26P|ILDR2_ENST00000529387.1_Silent_p.P26P|ILDR2_ENST00000525740.1_Silent_p.P26P	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	26	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCTTCTTGTCGGGCACTGTGA	0.522000													9	120					0	0	0.000443	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649519	20649519	+	RNA	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:20649519G>T	ENST00000428453.1	-	0	2679																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTGAGGGCTGTGCAGGGGCT	0.562000													20	46					8.24728e-16	2.49221e-15	0.004656	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	5					0	0	0.001168	0	0
MC5R	4161	broad.mit.edu	37	18	13826243	13826243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:13826243G>A	ENST00000324750.3	+	1	701	c.479G>A	c.(478-480)gGg>gAg	p.G160E		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	160					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGGCGCTCAGGGGCCATCATC	0.577000													128	226					0	0	0.003610	0	0
RGS1	5996	broad.mit.edu	37	1	192548327	192548327	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:192548327A>C	ENST00000367459.3	+	5	571	c.505A>C	c.(505-507)Acg>Ccg	p.T169P		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	169	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ACCAACCCCCACGTGTTTTGA	0.338000													42	23					0	0	0.002852	0	0
CDK11B	984	broad.mit.edu	37	1	1573159	1573159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:1573159G>A	ENST00000407249.3	-	14	1437	c.1438C>T	c.(1438-1440)Ctc>Ttc	p.L480F	CDK11B_ENST00000340677.5_Missense_Mutation_p.L467F|CDK11B_ENST00000317673.7_Missense_Mutation_p.L478F|CDK11B_ENST00000341832.6_Missense_Mutation_p.L433F			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	490	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TGGGCCTTGAGGATGGTGTTG	0.567000													39	195					0	0	0.002852	0	0
PAX6	5080	broad.mit.edu	37	11	31823109	31823109	+	Splice_Site	SNP	G	G	T	rs121907928		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:31823109G>T	ENST00000419022.1	-	7	867	c.399_splice	c.e7+1	p.S133_splice	PAX6_ENST00000379129.2_Splice_Site_p.S133_splice|PAX6_ENST00000379107.2_Splice_Site_p.S133_splice|PAX6_ENST00000241001.8_Splice_Site_p.S119_splice|PAX6_ENST00000379111.2_Splice_Site_p.S119_splice|PAX6_ENST00000379115.4_Splice_Site_p.S133_splice|PAX6_ENST00000379123.5_Splice_Site_p.S119_splice|PAX6_ENST00000379132.3_Splice_Site_p.S119_splice	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	119	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	p.S133S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATGAACTTACGCTTGGTATGT	0.512000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				10	35					2.17888e-05	6.17907e-05	0.000443	1	0
PAMR1	25891	broad.mit.edu	37	11	35496243	35496243	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:35496243G>A	ENST00000378880.2	-	4	874	c.429C>T	c.(427-429)agC>agT	p.S143S	PAMR1_ENST00000532848.1_Silent_p.S103S|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Silent_p.S143S|PAMR1_ENST00000378878.3_Intron	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	143	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTAGGGGATAGCTTTCCAACA	0.463000													22	55					0	0	0.002780	0	0
PCDH15	65217	broad.mit.edu	37	10	56287615	56287615	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:56287615T>C	ENST00000373965.2	-	3	508	c.114A>G	c.(112-114)ggA>ggG	p.G38G	PCDH15_ENST00000395440.1_Silent_p.G38G|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000320301.6_Silent_p.G38G|PCDH15_ENST00000373955.1_Silent_p.G38G|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395445.1_Silent_p.G38G|PCDH15_ENST00000414778.1_Silent_p.G43G|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Silent_p.G38G|PCDH15_ENST00000395438.1_Silent_p.G38G|PCDH15_ENST00000395446.1_Silent_p.G38G|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Silent_p.G38G|PCDH15_ENST00000395432.2_Silent_p.G38G|PCDH15_ENST00000395442.1_Silent_p.G38G|PCDH15_ENST00000395430.1_Silent_p.G38G	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	38					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAGCTGGTGGTCCTCCCCTAG	0.348000										HNSCC(58;0.16)			22	22					0	0	0.005443	0	0
ANKIB1	54467	broad.mit.edu	37	7	92015905	92015905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:92015905G>A	ENST00000265742.3	+	12	2076	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	567							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATGTACTCGCTATGAAGTC	0.423000													17	14					0	0	0.004990	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986923	89986923	+	RNA	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:89986923T>C	ENST00000491977.1	+	0	234																											CAGGCCAGCCTCCACAGCTCC	0.532000													41	44					0	0	0.001485	0	0
PMS2	5395	broad.mit.edu	37	7	6045547	6045547	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:6045547G>A	ENST00000265849.7	-	2	244	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.L47L|PMS2_ENST00000382321.4_Silent_p.L47L	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	47					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CCAGCATCCAGACTGTTTTCT	0.413000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				69	336					0	0	0.003610	0	0
ZNF814	730051	broad.mit.edu	37	19	58384572	58384572	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:58384572T>C	ENST00000435989.2	-	3	2420	c.2186A>G	c.(2185-2187)tAc>tGc	p.Y729C	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	729					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGAGTTGGTACTTGTTTCT	0.378000													4	8					0	0	0.000248	0	0
TMEM108	66000	broad.mit.edu	37	3	133099858	133099858	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:133099858C>T	ENST00000515826.1	+	3	1426	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S	TMEM108_ENST00000393130.3_Missense_Mutation_p.P435S|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.P435S			Q6UXF1	TM108_HUMAN	transmembrane protein 108	435						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGCCTGGTCCCCGCCGGGAC	0.632000													22	36					0	0	0.003330	0	0
GRIP2	80852	broad.mit.edu	37	3	14552798	14552798	+	RNA	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:14552798C>T	ENST00000273083.3	-	0	1872							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TAGCTTGTCGCCTGGCTCCAG	0.617000													21	21					0	0	0.003954	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129000	248129000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:248129000G>T	ENST00000366480.3	+	1	466	c.367G>T	c.(367-369)Ggt>Tgt	p.G123C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTGGCCCTTGGTGGAACTGA	0.448000													15	218					1.02788e-11	3.03968e-11	0.004990	1	0
KLHL15	80311	broad.mit.edu	37	X	24006507	24006507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:24006507C>T	ENST00000328046.8	-	4	1601	c.1346G>A	c.(1345-1347)aGc>aAc	p.S449N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	449										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CCCTTCTTTGCTGGGGTCAAA	0.458000													44	30					0	0	0.002522	0	0
ELAVL1	1994	broad.mit.edu	37	19	8032636	8032636	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:8032636G>A	ENST00000407627.2	-	5	598	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000351593.5_Missense_Mutation_p.R184W|ELAVL1_ENST00000596459.1_Missense_Mutation_p.R157W	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	157	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCCTCCGACCGTTTGTCAAAC	0.468000													23	32					0	0	0.003330	0	0
CDHR1	92211	broad.mit.edu	37	10	85964326	85964326	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:85964326G>A	ENST00000372117.3	+	9	930	c.827G>A	c.(826-828)gGc>gAc	p.G276D	CDHR1_ENST00000440770.2_Missense_Mutation_p.G35D|CDHR1_ENST00000332904.3_Missense_Mutation_p.G276D	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	276	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGAGACCGGGGCAAACCCAAT	0.577000													31	43					0	0	0.001287	0	0
TGM3	7053	broad.mit.edu	37	20	2315841	2315841	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:2315841G>A	ENST00000381458.5	+	11	1785	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	574					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)	GGATCACAGCGGTGTGCAAGG	0.552000													34	42					0	0	0.002096	0	0
U2AF1	7307	broad.mit.edu	37	21	44521539	44521539	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr21:44521539T>C	ENST00000380276.2	-	3	206	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000291552.4_Intron	NM_001025203.1	NP_001020374.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	46					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGAATCAAGATGGTCTGCGGG	0.388000			Mis		"""CLL, MDS"""								134	107					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152527463	152527463	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:152527463C>G	ENST00000367255.5	-	126	23460	c.22859G>C	c.(22858-22860)aGc>aCc	p.S7620T	SYNE1_ENST00000356820.4_Missense_Mutation_p.S2144T|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7232T|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7549T|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7620T|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7549T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7620					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGATGTAGCTGCCTTGTTG	0.478000										HNSCC(10;0.0054)			9	40					0	0	0.004482	0	0
RAB3IP	117177	broad.mit.edu	37	12	70194071	70194071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:70194071T>A	ENST00000550536.1	+	7	1476	c.1019T>A	c.(1018-1020)aTc>aAc	p.I340N	RAB3IP_ENST00000550847.1_Missense_Mutation_p.I31N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.I118N|RAB3IP_ENST00000551641.1_Missense_Mutation_p.I118N|RAB3IP_ENST00000553099.1_Missense_Mutation_p.I118N|RAB3IP_ENST00000247833.7_Missense_Mutation_p.I324N|RAB3IP_ENST00000483530.2_Missense_Mutation_p.I324N|RAB3IP_ENST00000362025.5_Missense_Mutation_p.I340N	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	340					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTAGACAAAATCTACCAGGAA	0.343000													7	24					0	0	0.004482	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113200121	113200121	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr13:113200121C>T	ENST00000261965.3	-	11	1413	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Silent_p.P409P	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	409					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					ACCGCATGTACGGGTCTCCTG	0.502000													54	45					0	0	0.003610	0	0
KLF6	1316	broad.mit.edu	37	10	3823889	3823889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:3823889C>T	ENST00000497571.1	-	2	880	c.620G>A	c.(619-621)tGc>tAc	p.C207Y	KLF6_ENST00000542957.1_Missense_Mutation_p.C207Y|KLF6_ENST00000469435.1_Missense_Mutation_p.C207Y|KLF6_ENST00000173785.4_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	207					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AACTTTCCTGCAGCCGTTAAA	0.657000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	43					0	0	0.005443	0	0
SLC11A2	4891	broad.mit.edu	37	12	51384679	51384679	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:51384679T>A	ENST00000394904.3	-	15	1610	c.1561A>T	c.(1561-1563)Atg>Ttg	p.M521L	SLC11A2_ENST00000541174.2_Missense_Mutation_p.M492L|SLC11A2_ENST00000547688.1_Missense_Mutation_p.M521L|SLC11A2_ENST00000547198.1_Missense_Mutation_p.M492L|SLC11A2_ENST00000546743.1_Missense_Mutation_p.M413L|SLC11A2_ENST00000262051.7_Missense_Mutation_p.M492L|SLC11A2_ENST00000545993.2_Missense_Mutation_p.M488L|SLC11A2_ENST00000262052.5_Missense_Mutation_p.M492L	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	492					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ACAAAGTACATATTGATGGAA	0.468000													22	22					0	0	0.002299	0	0
OGDH	4967	broad.mit.edu	37	7	44739836	44739836	+	Silent	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:44739836C>A	ENST00000222673.5	+	19	2569	c.2527C>A	c.(2527-2529)Cga>Aga	p.R843R	OGDH_ENST00000449767.1_Silent_p.R839R|OGDH_ENST00000447398.1_Silent_p.R854R|OGDH_ENST00000444676.1_Silent_p.R858R|OGDH_ENST00000439616.2_Silent_p.R693R|OGDH_ENST00000543843.1_Silent_p.R794R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	843					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCACGTGCTACGACGCCAGAT	0.572000													20	85					4.35082e-09	1.27302e-08	0.001523	1	0
ZNF573	126231	broad.mit.edu	37	19	38230129	38230129	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:38230129T>G	ENST00000339503.4	-	8	1589	c.1088A>C	c.(1087-1089)aAg>aCg	p.K363T	ZNF573_ENST00000357309.3_Missense_Mutation_p.K333T|ZNF573_ENST00000590414.2_Missense_Mutation_p.K421T|ZNF573_ENST00000392138.1_Missense_Mutation_p.K334T|ZNF573_ENST00000536220.1_Missense_Mutation_p.K333T	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GCTAAAGGCCTTTCCGCATTC	0.378000													66	198					0	0	0.003610	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018069	103018069	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:103018069C>A	ENST00000306312.3	-	18	2224	c.1963G>T	c.(1963-1965)Gtt>Ttt	p.V655F	SLC26A5_ENST00000393723.1_Missense_Mutation_p.V625F|SLC26A5_ENST00000393727.1_Missense_Mutation_p.V657F|SLC26A5_ENST00000393729.1_Missense_Mutation_p.V618F|SLC26A5_ENST00000393730.1_Missense_Mutation_p.V623F|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.V88F|SLC26A5_ENST00000339444.6_Missense_Mutation_p.V655F|SLC26A5_ENST00000432958.2_Missense_Mutation_p.V623F	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	655	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTCACTCCAACAGAATCAATA	0.438000													13	58					4.3838e-07	1.26263e-06	0.001855	1	0
WDR70	55100	broad.mit.edu	37	5	37480011	37480011	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:37480011G>A	ENST00000265107.4	+	8	918	c.762G>A	c.(760-762)aaG>aaA	p.K254K	WDR70_ENST00000504564.1_Silent_p.K254K|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	254										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCAGGCCAAGGTGATTGACA	0.383000													19	106					0	0	0.000743	0	0
CES5A	221223	broad.mit.edu	37	16	55907847	55907847	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:55907847C>A	ENST00000521992.1	-	3	408	c.263G>T	c.(262-264)gGa>gTa	p.G88V	CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.G59V|CES5A_ENST00000290567.9_Missense_Mutation_p.G59V|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Missense_Mutation_p.G59V	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	59						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAAGGGGACTCCGAGGAACAC	0.597000													21	15					1.10513e-12	3.28569e-12	0.002299	1	0
TIMM17A	10440	broad.mit.edu	37	1	201938617	201938617	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:201938617C>T	ENST00000367287.4	+	6	487	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	151					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(3)|stomach(1)	5						TGCAGAAGACCCCTCCCAGTT	0.363000													51	42					0	0	0.003610	0	0
OR5T3	390154	broad.mit.edu	37	11	56020591	56020591	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:56020591A>G	ENST00000303059.3	+	1	916	c.916A>G	c.(916-918)Ata>Gta	p.I306V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CATAGTGTCAATATTTTACAC	0.358000													14	54					0	0	0.002450	0	0
ANO4	121601	broad.mit.edu	37	12	101510520	101510520	+	Silent	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:101510520A>C	ENST00000392979.3	+	24	2770	c.2409A>C	c.(2407-2409)cgA>cgC	p.R803R	ANO4_ENST00000550015.1_Silent_p.R358R|ANO4_ENST00000299222.9_Silent_p.R358R|ANO4_ENST00000392977.3_Silent_p.R838R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	838						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						TTGAGAACCGATCTGAGCCTG	0.507000										HNSCC(74;0.22)			21	85					0	0	0.001216	0	0
ANK3	288	broad.mit.edu	37	10	61832598	61832598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:61832598G>A	ENST00000280772.1	-	37	8232	c.8041C>T	c.(8041-8043)Cag>Tag	p.Q2681*	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2681					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCTCAGTCTGTTGGGAGAGA	0.542000													24	44					0	0	0.003330	0	0
SPG7	6687	broad.mit.edu	37	16	89619494	89619494	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:89619494C>T	ENST00000268704.2	+	14	1902	c.1887C>T	c.(1885-1887)gcC>gcT	p.A629A		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	629					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGTGCATGGCCCTGGGAGGAC	0.622000													4	6					0	0	0.000248	0	0
COL25A1	84570	broad.mit.edu	37	4	109805340	109805340	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:109805340C>T	ENST00000399132.1	-	19	1544	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G	COL25A1_ENST00000399126.1_Silent_p.G338G|COL25A1_ENST00000399127.1_Silent_p.G334G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	338	Collagen-like 4.					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)		TTACCTTTATCCCCGGAAGTC	0.408000													9	40					0	0	0.000978	0	0
PCDH10	57575	broad.mit.edu	37	4	134072702	134072702	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:134072702C>T	ENST00000264360.4	+	1	2233	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	469	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGTCTACGACGTGTATGTGA	0.622000													31	63					0	0	0.002096	0	0
DNAH5	1767	broad.mit.edu	37	5	13769209	13769209	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:13769209C>T	ENST00000265104.4	-	58	9861	c.9757G>A	c.(9757-9759)Gaa>Aaa	p.E3253K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3253	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGACCTTTTCAGCAGCCTGT	0.428000									Kartagener syndrome				102	260					0	0	0.003610	0	0
ZNF107	51427	broad.mit.edu	37	7	64166756	64166756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:64166756C>T	ENST00000395391.1	+	4	1449	c.74C>T	c.(73-75)tCt>tTt	p.S25F	ZNF107_ENST00000423627.1_Missense_Mutation_p.S25F|ZNF107_ENST00000344930.3_Missense_Mutation_p.S25F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATAAAAGATTCTTTCCAGAAA	0.358000													33	33					0	0	0.004289	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													4	153					0	0	0.000248	0	0
ENDOU	8909	broad.mit.edu	37	12	48104564	48104564	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:48104564C>T	ENST00000542202.1	-	6	860	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	ENDOU_ENST00000545824.2_3'UTR|ENDOU_ENST00000229003.3_3'UTR|ENDOU_ENST00000422538.3_3'UTR|RP1-197B17.3_ENST00000547799.1_lincRNA			P21128	ENDOU_HUMAN	endonuclease, polyU-specific	0					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CCCTCATGCCCCTTTCTGGCT	0.493000													33	66					0	0	0.002836	0	0
MYO7A	4647	broad.mit.edu	37	11	76891461	76891461	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:76891461G>A	ENST00000409709.3	+	22	2900	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	MYO7A_ENST00000409893.1_Silent_p.E876E|MYO7A_ENST00000409619.2_Silent_p.E865E|MYO7A_ENST00000458637.2_Silent_p.E876E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	876					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCTGGCGGAGGAAGAGAAGC	0.587000													5	8					0	0	0.000602	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													4	75					0	0	0.003080	0	0
SERPING1	710	broad.mit.edu	37	11	57367613	57367613	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:57367613C>A	ENST00000403558.1	+	2	781	c.415C>A	c.(415-417)Cca>Aca	p.P139T	SERPING1_ENST00000378323.4_Missense_Mutation_p.P110T|SERPING1_ENST00000378324.2_Missense_Mutation_p.P53T|SERPING1_ENST00000340687.6_Missense_Mutation_p.P105T|SERPING1_ENST00000278407.4_Missense_Mutation_p.P105T	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	105					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						acccacccaaccaactaccca	0.532000													18	63					3.32936e-07	9.63945e-07	0.000743	1	0
STOX2	56977	broad.mit.edu	37	4	184931970	184931970	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:184931970G>A	ENST00000308497.4	+	3	3414	c.1979G>A	c.(1978-1980)gGg>gAg	p.G660E	STOX2_ENST00000438269.1_Missense_Mutation_p.G660E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	660					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCACCAAAAGGGCCGGGTGGG	0.642000													5	13					0	0	0.000602	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828794	13828794	+	Splice_Site	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:13828794C>T	ENST00000279593.3	-	4	1220		c.e4-1			NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATCAGATACCTGTAAAGATA	0.408000													28	58					0	0	0.004656	0	0
REXO4	57109	broad.mit.edu	37	9	136277920	136277920	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:136277920C>T	ENST00000371942.3	-	3	893	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	232						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TGCTCTTTCACGAGGCTGAGG	0.627000													10	27					0	0	0.000673	0	0
OR2G6	391211	broad.mit.edu	37	1	248685814	248685814	+	Silent	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:248685814C>A	ENST00000343414.4	+	1	899	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCATTATCTACACTCTGA	0.443000													9	60					3.86212e-05	0.000108414	0.000673	1	0
XYLT2	64132	broad.mit.edu	37	17	48432867	48432867	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:48432867A>G	ENST00000017003.2	+	5	1062	c.1013A>G	c.(1012-1014)aAt>aGt	p.N338S	XYLT2_ENST00000507602.1_Missense_Mutation_p.N338S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	338					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACCAGGACCAATGAGGAGCTG	0.562000													6	50					0	0	0.001168	0	0
MEGF9	1955	broad.mit.edu	37	9	123476100	123476100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:123476100G>T	ENST00000373930.3	-	1	648	c.537C>A	c.(535-537)agC>agA	p.S179R	MEGF9_ENST00000426959.1_Missense_Mutation_p.S171R	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	179	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGTTGCTGCTGCTGGGGAGAT	0.731000													5	32					0.00198382	0.00548526	0.001984	1	0
PLEKHA7	144100	broad.mit.edu	37	11	17035570	17035570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:17035570C>T	ENST00000355661.3	-	3	197	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	PLEKHA7_ENST00000532079.1_Intron|OR7E14P_ENST00000530490.1_RNA|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G63S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G63S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	63	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCGTGAAGCCCTCCTCCCAG	0.751000													2	1					0	0	0.004672	0	0
VEZF1	7716	broad.mit.edu	37	17	56060238	56060238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:56060238G>A	ENST00000584396.1	-	2	611	c.523C>T	c.(523-525)Cga>Tga	p.R175*	VEZF1_ENST00000581208.1_Nonsense_Mutation_p.R184*			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	184					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TACACATCTCGGAAGGCCTTC	0.498000													16	45					0	0	0.004990	0	0
KRT72	140807	broad.mit.edu	37	12	52992876	52992876	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:52992876C>T	ENST00000293745.2	-	2	532	c.447G>A	c.(445-447)caG>caA	p.Q149Q	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000354310.4_Silent_p.Q149Q|KRT72_ENST00000537672.2_Silent_p.Q149Q	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	149	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCACCTGATTCTGCTGCTCCA	0.547000													16	51					0	0	0.004007	0	0
MYCN	4613	broad.mit.edu	37	2	16085953	16085953	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:16085953T>A	ENST00000281043.3	+	3	1426	c.1129T>A	c.(1129-1131)Tcg>Acg	p.S377T		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	377					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AAACTCTGACTCGGAGGACAG	0.607000			A		neuroblastoma								34	31					0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179612845	179612845	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:179612845C>A	ENST00000360870.5	-	46	14504	c.14282G>T	c.(14281-14283)aGt>aTt	p.S4761I	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	873	Ig-like 28.						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)			TGAGATGGAACTTCTGCCTCC	0.408000													24	35					2.32416e-17	7.06186e-17	0.002299	1	0
FNBP4	23360	broad.mit.edu	37	11	47739054	47739054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:47739054C>A	ENST00000263773.5	-	17	2986	c.2974G>T	c.(2974-2976)Gag>Tag	p.E992*		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	992										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCATTTCTCTCTGCCATGCCA	0.328000													15	37					0.000308642	0.000862015	0.003163	1	0
TAB1	10454	broad.mit.edu	37	22	39832515	39832515	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:39832515G>A	ENST00000331454.3	+	11	1347	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N	TAB1_ENST00000488859.1_3'UTR	NM_153497.2	NP_705717.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	0					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGGCCTGCAAGCGATTTGACA	0.527000													9	104					0	0	0.000443	0	0
ACTN1	87	broad.mit.edu	37	14	69345238	69345238	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:69345238C>A	ENST00000394419.4	-	20	2546	c.2364G>T	c.(2362-2364)aaG>aaT	p.K788N	ACTN1_ENST00000376839.3_Missense_Mutation_p.K696N|ACTN1_ENST00000438964.2_Missense_Mutation_p.K761N|ACTN1_ENST00000538545.2_Missense_Mutation_p.K761N|ACTN1_ENST00000193403.6_Intron	NM_001130004.1	NP_001123476.1	P12814	ACTN1_HUMAN	actinin, alpha 1	787	EF-hand 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGCCTGTCTTCTTCTGTGGGG	0.587000													19	14					1.01871e-10	2.99653e-10	0.001216	1	0
LGI4	163175	broad.mit.edu	37	19	35617874	35617874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:35617874G>A	ENST00000392225.3	-	7	1195	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Missense_Mutation_p.P226S			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	226						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TAGGAGAAGGGCTCTACGCTC	0.647000													16	16					0	0	0.000958	0	0
GABRG3	2567	broad.mit.edu	37	15	27572157	27572157	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:27572157A>T	ENST00000333743.6	+	4	726	c.472A>T	c.(472-474)Aaa>Taa	p.K158*	GABRG3_ENST00000555083.1_Nonsense_Mutation_p.K158*	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	158					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GAATGACGGGAAAATCCTTTA	0.443000													13	16					0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141294272	141294272	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:141294272T>A	ENST00000389484.3	-	46	8491	c.7520A>T	c.(7519-7521)aAt>aTt	p.N2507I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2507					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)		GCAGGAGGAATTTTTAGCTGC	0.328000										TSP Lung(27;0.18)			11	19					0	0	0.000978	0	0
TMEM175	84286	broad.mit.edu	37	4	949582	949582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:949582C>T	ENST00000264771.4	+	10	931	c.746C>T	c.(745-747)tCg>tTg	p.S249L	TMEM175_ENST00000508204.1_Missense_Mutation_p.S167L|TMEM175_ENST00000515740.1_Missense_Mutation_p.S133L	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	249						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGTCTTCTCGTTTGACCTC	0.637000													7	20					0	0	0.003080	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137240	64137240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:64137240C>T	ENST00000528057.1	+	14	1739	c.1651C>T	c.(1651-1653)Cgg>Tgg	p.R551W	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R558W	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	558	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CGCGCGGTTGCGGCCGCAGAG	0.692000													9	14					0	0	0.000443	0	0
OR51E2	81285	broad.mit.edu	37	11	4703255	4703255	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:4703255G>A	ENST00000396950.3	-	2	926	c.687C>T	c.(685-687)tcC>tcT	p.S229S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTCTGACTTGGAAGGCAGTT	0.498000													16	49					0	0	0.003163	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21759702	21759702	+	Splice_Site	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:21759702C>T	ENST00000319481.3	-	20	2116	c.1910_splice	c.e20+1	p.R637_splice	OSBPL1A_ENST00000357041.4_Splice_Site_p.R255_splice|OSBPL1A_ENST00000399443.3_Splice_Site_p.R124_splice	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	637					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AAGGCCTCACCGCACTAATTC	0.448000													5	24					0	0	0.000602	0	0
ABCB5	340273	broad.mit.edu	37	7	20683197	20683197	+	Missense_Mutation	SNP	C	C	T	rs138449195	by1000genomes	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:20683197C>T	ENST00000404938.2	+	7	1272	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	393					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGAAACTCACCCTAGTGACT	0.443000													32	44					0	0	0.001512	0	0
MALAT1	378938	broad.mit.edu	37	11	65265527	65265527	+	RNA	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:65265527C>G	ENST00000534336.1	+	0	295				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2																						CTTCCTGCTCCGGTTCAGAAG	0.438000													10	65					0	0	0.000443	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6837258	6837258	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:6837258G>A	ENST00000262227.3	+	3	3443	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ARHGAP28_ENST00000418986.1_5'UTR|ARHGAP28_ENST00000531294.1_5'UTR|ARHGAP28_ENST00000314319.3_5'UTR|ARHGAP28_ENST00000419673.2_5'UTR|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.E130K|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.E130K			B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTCAGGTGATGAAGAGGAAGA	0.438000													4	9					0	0	0.000248	0	0
ZNF596	169270	broad.mit.edu	37	8	195353	195353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:195353G>A	ENST00000398612.1	+	6	889	c.506G>A	c.(505-507)aGt>aAt	p.S169N	ZNF596_ENST00000320552.2_Missense_Mutation_p.S99N|ZNF596_ENST00000308811.4_Missense_Mutation_p.S169N	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TCATATGGAAGTCATCTATTT	0.373000													18	29					0	0	0.000743	0	0
PTGS1	5742	broad.mit.edu	37	9	125148893	125148893	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:125148893C>G	ENST00000362012.2	+	9	1183	c.1178C>G	c.(1177-1179)tCc>tGc	p.S393C	PTGS1_ENST00000223423.4_Missense_Mutation_p.S393C|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Missense_Mutation_p.S284C|PTGS1_ENST00000540753.1_Missense_Mutation_p.S368C	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)	393					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)	ATGCCTGACTCCTTCAAGGTG	0.552000													77	40					0	0	0.003610	0	0
OR51I2	390064	broad.mit.edu	37	11	5474810	5474810	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:5474810T>G	ENST00000341449.2	+	1	173	c.92T>G	c.(91-93)cTc>cGc	p.L31R	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGGCCCCTCTGCGTGATG	0.562000													5	43					0	0	0.000602	0	0
C2orf61	285051	broad.mit.edu	37	2	47382368	47382368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:47382368G>A	ENST00000294947.2	-	1	58	c.23C>T	c.(22-24)aCc>aTc	p.T8I	C2orf61_ENST00000445927.2_Missense_Mutation_p.T8I|CALM2_ENST00000422269.1_Intron	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	8								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGTGGAAGCGGTGGCGACGGC	0.642000													21	28					0	0	0.001882	0	0
COL11A1	1301	broad.mit.edu	37	1	103345449	103345449	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:103345449T>C	ENST00000358392.2	-	66	5417	c.5100A>G	c.(5098-5100)ggA>ggG	p.G1700G	COL11A1_ENST00000353414.4_Silent_p.G1649G|COL11A1_ENST00000370096.3_Silent_p.G1688G|COL11A1_ENST00000512756.1_Silent_p.G1572G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1688	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGATGGAATTTCCTTCAACAT	0.388000													10	17					0	0	0.001368	0	0
DAAM2	23500	broad.mit.edu	37	6	39859202	39859202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:39859202G>A	ENST00000538976.1	+	18	2413	c.2231G>A	c.(2230-2232)cGc>cAc	p.R744H	DAAM2_ENST00000398904.2_Missense_Mutation_p.R744H|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R744H	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	744	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGTGCTGACCGCTTCCTCTAT	0.577000													4	12					0	0	0.000248	0	0
CD163L1	283316	broad.mit.edu	37	12	7548986	7548986	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:7548986C>T	ENST00000313599.3	-	8	1812	c.1755G>A	c.(1753-1755)ctG>ctA	p.L585L	CD163L1_ENST00000416109.2_Silent_p.L595L|CD163L1_ENST00000396630.1_Silent_p.L585L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	585	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCGCCCACCAGCCTCAGGC	0.522000													10	14					0	0	0.000443	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68130079	68130079	+	Silent	SNP	T	T	C	rs145845893	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:68130079T>C	ENST00000262215.3	-	32	4940	c.4551A>G	c.(4549-4551)ctA>ctG	p.L1517L	ARFGEF1_ENST00000520381.1_Silent_p.L971L|ARFGEF1_ENST00000518230.1_Silent_p.L355L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1517					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCCAGATTTCTAGGGTAAATT	0.343000													26	33					0	0	0.001061	0	0
RANBP9	10048	broad.mit.edu	37	6	13639954	13639954	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:13639954T>C	ENST00000011619.3	-	9	1424	c.1366A>G	c.(1366-1368)Aca>Gca	p.T456A	RANBP9_ENST00000539980.1_Missense_Mutation_p.T227A	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	456	CTLH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCACTATCTGTACCATTCACC	0.388000													11	31					0	0	0.000673	0	0
CARD17	440068	broad.mit.edu	37	11	104970094	104970094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:104970094G>A	ENST00000375707.1	-	3	345	c.329C>T	c.(328-330)tCc>tTc	p.S110F	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CATTACCTAGGAAGGAAGTAC	0.388000													23	32					0	0	0.003954	0	0
TGFBI	7045	broad.mit.edu	37	5	135383029	135383029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:135383029C>T	ENST00000442011.2	+	6	852	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	TGFBI_ENST00000305126.8_Missense_Mutation_p.L231F	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	231	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGTGCACCTCATCGATAA	0.547000													77	74					0	0	0.003610	0	0
FGFR3	2261	broad.mit.edu	37	4	1801019	1801019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:1801019G>A	ENST00000340107.4	+	3	404	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	FGFR3_ENST00000352904.1_Missense_Mutation_p.V50I|FGFR3_ENST00000481110.2_Missense_Mutation_p.V50I|FGFR3_ENST00000412135.2_Missense_Mutation_p.V50I|FGFR3_ENST00000440486.2_Missense_Mutation_p.V50I|FGFR3_ENST00000260795.2_Missense_Mutation_p.V50I	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	50	Ig-like C2-type 1.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGAGCAGTTGGTCTTCGGCAG	0.677000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				14	61					0	0	0.000743	0	0
DIP2C	22982	broad.mit.edu	37	10	412284	412284	+	Silent	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:412284C>G	ENST00000280886.6	-	19	2286	c.2199G>C	c.(2197-2199)ctG>ctC	p.L733L	DIP2C_ENST00000381496.3_Silent_p.L626L|DIP2C_ENST00000540204.1_Silent_p.L54L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	733						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACACACACACAGCTCCCCGA	0.542000													7	44					0	0	0.003080	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709650	22709650	+	RNA	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:22709650C>A	ENST00000314246.8	-	0	1134																											TGAGTTTGGACAAGCTCCTCT	0.557000													36	332					6.1207e-33	1.89092e-32	0.003214	1	0
MIER2	54531	broad.mit.edu	37	19	312210	312210	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:312210G>A	ENST00000264819.4	-	9	880	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	290	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CCTTCACGTTGAACCGCAGCC	0.637000													12	34					0	0	0.001855	0	0
CALR	811	broad.mit.edu	37	19	13054358	13054358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:13054358C>T	ENST00000316448.5	+	8	1041	c.968C>T	c.(967-969)tCt>tTt	p.S323F		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	323	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGTCAAGTCTGGCACCATC	0.512000													10	25					0	0	0.000978	0	0
ACSBG1	23205	broad.mit.edu	37	15	78472020	78472020	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:78472020C>T	ENST00000258873.4	-	10	1561	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	ACSBG1_ENST00000541759.1_Silent_p.A210A|ACSBG1_ENST00000560817.1_Silent_p.A210A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	452					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	p.A452A(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCATGGGGGCCGCTCCATAGA	0.557000													10	52					0	0	0.000978	0	0
NT5C1B	93034	broad.mit.edu	37	2	18766048	18766048	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:18766048T>C	ENST00000304081.4	-	4	555	c.455A>G	c.(454-456)aAt>aGt	p.N152S	NT5C1B_ENST00000359846.2_Missense_Mutation_p.N212S|NT5C1B_ENST00000600945.1_Missense_Mutation_p.N212S|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.N212S	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGCCTCCGGATTCTCTTGCAT	0.701000													13	30					0	0	0.001368	0	0
TSHR	7253	broad.mit.edu	37	14	81610331	81610331	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:81610331T>A	ENST00000541158.2	+	11	2251	c.1929T>A	c.(1927-1929)taT>taA	p.Y643*	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Nonsense_Mutation_p.Y643*			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	643					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTCATTCTATGCTCTGTCAG	0.458000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						56	98					0	0	0.003610	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077222	34077222	+	Silent	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:34077222T>A	ENST00000254466.6	-	2	528	c.501A>T	c.(499-501)acA>acT	p.T167T	GAS2L2_ENST00000587565.1_Silent_p.T167T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	167					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCACGAGTGTGGGCGCCG	0.711000													88	184					0	0	0.003610	0	0
FAM208B	54906	broad.mit.edu	37	10	5789368	5789368	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:5789368G>A	ENST00000328090.5	+	15	4609	c.3984G>A	c.(3982-3984)gaG>gaA	p.E1328E		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1328																	AACCGGAAGAGGTGGCTCTCA	0.453000													68	140					0	0	0.003610	0	0
MOCOS	55034	broad.mit.edu	37	18	33795646	33795646	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:33795646C>T	ENST00000261326.5	+	8	1524	c.1503C>T	c.(1501-1503)gcC>gcT	p.A501A		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	501					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TCCCTCAGGCCCATGCTGACA	0.567000													6	15					0	0	0.001168	0	0
CKAP5	9793	broad.mit.edu	37	11	46780912	46780912	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:46780912T>A	ENST00000529230.1	-	34	4521	c.4475A>T	c.(4474-4476)gAg>gTg	p.E1492V	CKAP5_ENST00000415402.1_Missense_Mutation_p.E1492V|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1492V|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1492V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1492					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATTGTCATTCTCAATCTCATC	0.493000													16	62					0	0	0.004990	0	0
PLCB1	23236	broad.mit.edu	37	20	8709798	8709798	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:8709798T>C	ENST00000378641.3	+	18	2340	c.1865T>C	c.(1864-1866)gTg>gCg	p.V622A	PLCB1_ENST00000378637.2_Missense_Mutation_p.V622A|PLCB1_ENST00000338037.6_Missense_Mutation_p.V622A|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	622	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCAGATGGTGGCACTTAAT	0.413000													11	48					0	0	0.000673	0	0
LOC644669	644669	broad.mit.edu	37	18	15316668	15316668	+	RNA	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:15316668T>A	ENST00000455308.2	-	0	755					NR_027417.1																						CACTGTATCCTATTCATCAGG	0.418000													4	10					0	0	0.000248	0	0
DEPDC7	91614	broad.mit.edu	37	11	33054913	33054913	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:33054913C>T	ENST00000311388.3	+	9	1797	c.1421C>T	c.(1420-1422)tCa>tTa	p.S474L	DEPDC7_ENST00000241051.3_Missense_Mutation_p.S483L	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						GATGAGGATTCAAAACTTTCT	0.338000													11	39					0	0	0.000673	0	0
GRID1	2894	broad.mit.edu	37	10	87614311	87614311	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:87614311A>T	ENST00000327946.7	-	8	1260	c.1175T>A	c.(1174-1176)gTc>gAc	p.V392D		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	392						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTCAAACTGGACATAGGGATT	0.493000										Multiple Myeloma(13;0.14)			11	48					0	0	0.001368	0	0
DNAH11	8701	broad.mit.edu	37	7	21940799	21940799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:21940799C>T	ENST00000328843.6	+	83	13530	c.13499C>T	c.(13498-13500)aCc>aTc	p.T4500I	CDCA7L_ENST00000406877.3_3'UTR|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.T4493I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4500					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						TACATCTGGACCTTCAGGCTG	0.512000									Kartagener syndrome				21	41					0	0	0.001523	0	0
GBF1	8729	broad.mit.edu	37	10	104136823	104136823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:104136823G>A	ENST00000369983.3	+	33	4677	c.4417G>A	c.(4417-4419)Ggg>Agg	p.G1473R		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1473					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.G1473R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTCTCGGGGCGGGCAGAGTGA	0.532000													55	71					0	0	0.003610	0	0
KLHL25	64410	broad.mit.edu	37	15	86311556	86311556	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:86311556T>A	ENST00000337975.5	-	2	1760	c.1486A>T	c.(1486-1488)Atc>Ttc	p.I496F	KLHL25_ENST00000536947.1_Missense_Mutation_p.I496F|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	496						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCTCCCATGATGAAGATCTGG	0.617000													38	61					0	0	0.001951	0	0
MYBPC1	4604	broad.mit.edu	37	12	102069094	102069094	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:102069094T>C	ENST00000549145.1	+	26	2952	c.2852T>C	c.(2851-2853)gTg>gCg	p.V951A	MYBPC1_ENST00000441232.1_Missense_Mutation_p.V938A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.V901A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.V920A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.V908A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.V906A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.V920A|MYBPC1_ENST00000550270.1_Missense_Mutation_p.V938A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.V945A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.V894A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Missense_Mutation_p.V938A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.V945A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.V938A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.V821A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.V907A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	938	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCCCAAATTGTGAAGATTGAG	0.448000													9	31					0	0	0.004482	0	0
ZNF485	220992	broad.mit.edu	37	10	44111790	44111790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:44111790C>T	ENST00000361807.3	+	5	493	c.299C>T	c.(298-300)tCt>tTt	p.S100F	ZNF485_ENST00000374435.3_Missense_Mutation_p.S100F|ZNF485_ENST00000374437.2_Missense_Mutation_p.S9F	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						CAAAGCACTTCTGAAGCATCT	0.408000													7	36					0	0	0.001984	0	0
TEX10	54881	broad.mit.edu	37	9	103092287	103092287	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:103092287G>C	ENST00000374902.4	-	6	1591	c.1415C>G	c.(1414-1416)tCt>tGt	p.S472C	TEX10_ENST00000535814.1_Missense_Mutation_p.S475C|TEX10_ENST00000537512.1_Missense_Mutation_p.S407C	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	472						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATTTAGCCTAGAGCCATCTTC	0.423000													49	43					0	0	0.003610	0	0
CLIC4	25932	broad.mit.edu	37	1	25153564	25153564	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:25153564A>C	ENST00000374379.4	+	4	569	c.372A>C	c.(370-372)aaA>aaC	p.K124N	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	124	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TCTTTGCCAAATTCTCTGCAT	0.348000													30	120					0	0	0.003271	0	0
TTYH2	94015	broad.mit.edu	37	17	72209745	72209745	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:72209745G>C	ENST00000269346.4	+	1	93	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	7						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGCGCGCGTGGACTACATCGC	0.736000													5	14					0	0	0.001168	0	0
YEATS2	55689	broad.mit.edu	37	3	183521945	183521945	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:183521945G>C	ENST00000305135.5	+	27	3948	c.3753G>C	c.(3751-3753)gaG>gaC	p.E1251D		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1251					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)			ACTCCATCGAGGACGTGCTGA	0.612000													10	85					0	0	0.000673	0	0
TENM2	57451	broad.mit.edu	37	5	167552005	167552005	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:167552005C>T	ENST00000519204.1	+	10	1914	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	TENM2_ENST00000545108.1_Missense_Mutation_p.T720M|TENM2_ENST00000518659.1_Missense_Mutation_p.T720M|TENM2_ENST00000403607.2_Missense_Mutation_p.T553M|TENM2_ENST00000520394.1_Missense_Mutation_p.T488M|CTB-178M22.1_ENST00000517408.1_RNA					teneurin transmembrane protein 2																		CTGCCTGACACGGGCCTCTGC	0.612000													4	8					0	0	0.000602	0	0
FAM111A	63901	broad.mit.edu	37	11	58920865	58920865	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:58920865G>C	ENST00000528737.1	+	5	4542	c.1724G>C	c.(1723-1725)gGc>gCc	p.G575A	FAM111A_ENST00000361723.3_Missense_Mutation_p.G575A|FAM111A_ENST00000531147.1_Missense_Mutation_p.G575A|FAM111A_ENST00000420244.1_Missense_Mutation_p.G575A|FAM111A_ENST00000533703.1_Missense_Mutation_p.G575A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	575					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ATTGAGTTTGGCTCTACCATG	0.403000													56	79					0	0	0.003610	0	0
RPL22	6146	broad.mit.edu	37	1	6253065	6253065	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:6253065A>G	ENST00000234875.4	-	3	205	c.167T>C	c.(166-168)cTt>cCt	p.L56P	RPL22_ENST00000497965.1_Missense_Mutation_p.L23P|RPL22_ENST00000484532.1_Missense_Mutation_p.L23P	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCTCCACCAAGGTTCCCAGC	0.468000			T	RUNX1	"""AML, CML"""								9	61					0	0	0.000443	0	0
SH2D1B	117157	broad.mit.edu	37	1	162368816	162368816	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:162368816T>C	ENST00000367929.2	-	3	369	c.260A>G	c.(259-261)gAa>gGa	p.E87G	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	87	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATTTGGTTTTTCAAATTTGGA	0.398000													6	64					0	0	0.001168	0	0
ZNF16	7564	broad.mit.edu	37	8	146157090	146157090	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:146157090G>A	ENST00000276816.4	-	4	1269	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	ZNF16_ENST00000394909.2_Silent_p.S361S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGAGGTTTGAGCTTCGCCTGA	0.522000													25	47					0	0	0.003330	0	0
TNS1	7145	broad.mit.edu	37	2	218674659	218674659	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:218674659C>T	ENST00000171887.4	-	30	5300	c.4848G>A	c.(4846-4848)caG>caA	p.Q1616Q	TNS1_ENST00000419504.1_Silent_p.Q1602Q|TNS1_ENST00000430930.1_Silent_p.Q1595Q	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1616						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TAGAGATGGCCTGTGGCCCAG	0.572000													15	14					0	0	0.004007	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372597	151372597	+	Missense_Mutation	SNP	G	G	T	rs41317142		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:151372597G>T	ENST00000287878.4	-	4	1097	c.593C>A	c.(592-594)cCg>cAg	p.P198Q	PRKAG2_ENST00000492843.1_Missense_Mutation_p.P74Q|PRKAG2_ENST00000392801.2_Missense_Mutation_p.P154Q|PRKAG2_ENST00000433631.2_Missense_Mutation_p.P74Q	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	198					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CCCTGTGTCCGGGGGGGAAGA	0.582000													4	73					0.000602214	0.00167349	0.000602	1	0
SCAF11	9169	broad.mit.edu	37	12	46321867	46321867	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:46321867T>C	ENST00000465950.1	-	1	1881	c.672A>G	c.(670-672)acA>acG	p.T224T	SCAF11_ENST00000419565.2_Silent_p.T539T|SCAF11_ENST00000369367.3_Silent_p.T539T|SCAF11_ENST00000549162.1_Silent_p.T347T			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	539					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TACATACATCTGTCTTTACCT	0.368000													18	79					0	0	0.000743	0	0
ATF4	468	broad.mit.edu	37	22	39917879	39917879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:39917879G>A	ENST00000337304.2	+	2	1210	c.328G>A	c.(328-330)Gat>Aat	p.D110N	ATF4_ENST00000396680.1_Missense_Mutation_p.D110N|ATF4_ENST00000404241.2_Missense_Mutation_p.D110N	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	110					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AACCATGCCAGATGACCTTCT	0.517000													47	211					0	0	0.003610	0	0
WNK2	65268	broad.mit.edu	37	9	96051365	96051365	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:96051365G>A	ENST00000297954.4	+	20	4440	c.4440G>A	c.(4438-4440)ccG>ccA	p.P1480P	WNK2_ENST00000427277.2_Silent_p.P1055P|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Silent_p.P1092P|WNK2_ENST00000395477.2_Silent_p.P1443P			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1480					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACGAGGCCCCGCTTGCTGTGC	0.677000													8	0					0	0	0.004482	0	0
TEX14	56155	broad.mit.edu	37	17	56729334	56729334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:56729334G>A	ENST00000389934.3	-	2	146	c.29C>T	c.(28-30)cCc>cTc	p.P10L	TEX14_ENST00000349033.5_Missense_Mutation_p.P10L|TEX14_ENST00000240361.8_Missense_Mutation_p.P10L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	10						cytoplasm	ATP binding|protein kinase activity	p.P10H(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACAGGACAGGGGACTGGAAG	0.398000													13	32					0	0	0.001368	0	0
KLHL24	54800	broad.mit.edu	37	3	183368452	183368452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:183368452G>A	ENST00000454652.1	+	4	694	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	KLHL24_ENST00000242810.6_Missense_Mutation_p.R103Q|KLHL24_ENST00000476808.1_Missense_Mutation_p.R103Q			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	103	BTB.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGGAAAGCCGAGAAATGTTG	0.398000													42	103					0	0	0.002222	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666796	50666796	+	Silent	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:50666796G>T	ENST00000371824.1	+	7	1304	c.1047G>T	c.(1045-1047)ctG>ctT	p.L349L	ELAVL4_ENST00000371823.4_Silent_p.L363L|ELAVL4_ENST00000357083.4_Silent_p.L366L|ELAVL4_ENST00000448907.2_Silent_p.L352L|ELAVL4_ENST00000371819.1_Silent_p.L354L|ELAVL4_ENST00000371821.1_Silent_p.L368L|ELAVL4_ENST00000371827.1_Silent_p.L349L			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	363	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGTACCGCCTGGGAGACAGAG	0.448000													15	30					1.15088e-07	3.34966e-07	0.004007	1	0
PACSIN1	29993	broad.mit.edu	37	6	34499414	34499414	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:34499414G>A	ENST00000538621.1	+	9	1320	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	PACSIN1_ENST00000244458.2_Missense_Mutation_p.E359K|PACSIN1_ENST00000374043.2_Missense_Mutation_p.E317K	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	359					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTACGCCACCGAGTGGTCAGA	0.647000													34	121					0	0	0.003271	0	0
DNAJC21	134218	broad.mit.edu	37	5	34945007	34945007	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:34945007A>G	ENST00000382021.2	+	8	1246	c.1019A>G	c.(1018-1020)gAa>gGa	p.E340G	DNAJC21_ENST00000303525.7_Missense_Mutation_p.E340G|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E340G	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	340	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAGCATCGGGAAATGGTGGCC	0.408000													115	137					0	0	0.003610	0	0
FAM208A	23272	broad.mit.edu	37	3	56657144	56657144	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:56657144C>G	ENST00000431842.2	-	17	4547	c.3623G>C	c.(3622-3624)aGc>aCc	p.S1208T	FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000355628.5_Missense_Mutation_p.S1584T	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1645										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCTATCCAAGCTTTCAGTATA	0.363000													27	28					0	0	0.001061	0	0
SOWAHC	65124	broad.mit.edu	37	2	110373348	110373349	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:110373348_110373349delCT	ENST00000356454.3	+	1	1438_1439	c.1282_1283delCT	c.(1282-1284)cfs	p.L428fs		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	428																	CACCTACAAACTCTCACACGCC	0.644													16	43	---	---	---	---					
KLHDC8B	200942	broad.mit.edu	37	3	49213226	49213226	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:49213226delG	ENST00000332780.2	+	6	1266	c.1057delG	c.(1057-1059)ggfs	p.G353fs		NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	353						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGCGTGATGGGGTCTGAAG	0.602													27	27	---	---	---	---					
COPS4	51138	broad.mit.edu	37	4	83970432	83970433	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:83970432_83970433insA	ENST00000509093.1	+	3	1046_1047	c.268_269insA	c.(268-270)aaafs	p.K90fs	COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000511653.1_Frame_Shift_Ins_p.K90fs|COPS4_ENST00000503682.1_Frame_Shift_Ins_p.K90fs|COPS4_ENST00000264389.2_Frame_Shift_Ins_p.K90fs	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	90					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CTTCACCTTGGAAAAGATCCAG	0.406													15	35	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	642	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72159821	72159821	+	RNA	DEL	T	T	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:72159821delT	ENST00000438125.1	-	0	984							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCCTTAGTAATTTTTTTTTTT	0.388													8	47	---	---	---	---					
SYT15	83849	broad.mit.edu	37	10	46968665	46968665	+	Frame_Shift_Del	DEL	G	G	-	rs116765329	by1000genomes	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:46968665delG	ENST00000374323.3	-	2	1017	c.430delC	c.(430-432)tgfs	p.L144fs	SYT15_ENST00000374325.3_Frame_Shift_Del_p.L91fs|SYT15_ENST00000503753.1_Frame_Shift_Del_p.L91fs|SYT15_ENST00000374321.4_Frame_Shift_Del_p.L91fs			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	91						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCACTGTGCAGGGGCACCCAA	0.632													8	50	---	---	---	---					
XPOT	11260	broad.mit.edu	37	12	64818925	64818925	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:64818925delT	ENST00000332707.5	+	13	1944	c.1415delT	c.(1414-1416)gtfs	p.V472fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	472	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TCAGGTGATGTTTCAAAAGCT	0.383													55	92	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578384	7578401	+	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	GCAGCGCTCATGGTGGGG	-	rs68130327	by1000genomes	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	ENST00000420246.2	-	5	661_678	c.529_546delCCCCACCATGAGCGCTGC	c.(529-546)del	p.PHHERC177del	TP53_ENST00000455263.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000413465.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000359597.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000445888.2_In_Frame_Del_p.PHHERC177del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179Y(98)|p.H179L(43)|p.H179Q(23)|p.R181H(21)|p.R181C(19)|p.P177R(18)|p.P177L(17)|p.H178fs*69(16)|p.H179N(16)|p.E180*(14)|p.R181P(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.P177S(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.E180D(6)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.H178N(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.C182C(2)|p.R49C(2)|p.R88C(2)|p.H86R(2)|p.H86Q(2)|p.H85fs*69(2)|p.R181R(2)|p.H46fs*>45(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.H178fs*6(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.E48D(1)|p.E180_S183del(1)|p.P177T(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.H46D(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.H85D(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P84R(1)|p.P177_H179delPHH(1)|p.E180fs*6(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)		CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC	0.638		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)			19	29	---	---	---	---