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
LRP1B	53353	broad.mit.edu	37	2	141625821	141625821	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:141625821C>G	ENST00000389484.3	-	26	5152	c.4181G>C	c.(4180-4182)tGg>tCg	p.W1394S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1394					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)		CCAGTCTGTCCAGAAAAGAAT	0.358000										TSP Lung(27;0.18)			9	33					0	0	0.006214	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681438	44681438	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:44681438G>A	ENST00000381176.4	-	4	601	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	157						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGACCCGGCCGAGGGGCCCGA	0.697000													21	67					0	0	0.008871	0	0
VARS	7407	broad.mit.edu	37	6	31752260	31752260	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:31752260G>A	ENST00000375663.3	-	12	1927	c.1487C>T	c.(1486-1488)aCa>aTa	p.T496I	VARS_ENST00000444930.2_Missense_Mutation_p.T201I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	496					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.T496I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTGCGACCTGTCAGCTCCTT	0.587000													23	60					0	0	0.002299	0	0
ZNF345	25850	broad.mit.edu	37	19	37368294	37368294	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:37368294G>A	ENST00000529555.1	+	2	1350	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ZNF345_ENST00000589046.1_Missense_Mutation_p.A188T|ZNF345_ENST00000420450.1_Missense_Mutation_p.A188T|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	188					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTGAATCAGCCCTTATTCG	0.413000													22	41					0	0	0.001523	0	0
OFD1	8481	broad.mit.edu	37	X	13769430	13769430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:13769430A>G	ENST00000380567.1	+	11	1450	c.578A>G	c.(577-579)cAg>cGg	p.Q193R	OFD1_ENST00000380550.3_Intron|OFD1_ENST00000340096.6_Missense_Mutation_p.Q333R|OFD1_ENST00000398395.3_Missense_Mutation_p.Q333R|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	333					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGACAGGAGCAGAATATAAAG	0.303000													24	48					0	0	0.003954	0	0
HOOK1	51361	broad.mit.edu	37	1	60309235	60309235	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:60309235A>G	ENST00000371208.3	+	9	1010	c.753A>G	c.(751-753)caA>caG	p.Q251Q	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.Q209Q	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	251	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCATGCACAATTACAACTAG	0.333000													14	31					0	0	0.004990	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658434	46658434	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:46658434G>A	ENST00000253255.5	-	1	785	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	262	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGGGCACGGAGAACACCTGCC	0.677000													9	60					0	0	0.006214	0	0
CLDN11	5010	broad.mit.edu	37	3	170150427	170150427	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:170150427C>T	ENST00000064724.3	+	3	709	c.507C>T	c.(505-507)ctC>ctT	p.L169L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	169					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGCTGTGCCTCGTGGGTGGCT	0.592000													31	131					0	0	0.001786	0	0
TBL1X	6907	broad.mit.edu	37	X	9652149	9652149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:9652149C>T	ENST00000217964.7	+	6	918	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TBL1X_ENST00000407597.2_Missense_Mutation_p.T93M|TBL1X_ENST00000536365.1_Missense_Mutation_p.T42M|TBL1X_ENST00000424279.1_Missense_Mutation_p.T42M|TBL1X_ENST00000380961.1_Missense_Mutation_p.T42M	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	93	F-box-like.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				ATCAATGGGACGCTAGTGCCA	0.567000													16	60					0	0	0.006122	0	0
RNGTT	8732	broad.mit.edu	37	6	89650812	89650812	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:89650812G>C	ENST00000369485.4	-	2	338	c.152C>G	c.(151-153)tCa>tGa	p.S51*	RNGTT_ENST00000369475.3_Nonsense_Mutation_p.S51*|RNGTT_ENST00000265607.6_Nonsense_Mutation_p.S51*|RNGTT_ENST00000538899.1_Intron	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	51	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S51*(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAGGTAATTTGAGAGCATGCT	0.343000													15	60					0	0	0.003163	0	0
ZFP1	162239	broad.mit.edu	37	16	75204123	75204123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:75204123G>A	ENST00000393430.2	+	4	1239	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	ZFP1_ENST00000570010.1_Missense_Mutation_p.R372Q|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.R339Q			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R372Q(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TTACACTTGCGAATCCACACA	0.473000													7	55					0	0	0.001984	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269526	100269526	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:100269526G>A	ENST00000545021.1	-	4	1129	c.315C>T	c.(313-315)gtC>gtT	p.V105V	LYSMD4_ENST00000344791.2_Silent_p.V232V|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Silent_p.V231V|LYSMD4_ENST00000332728.4_Silent_p.V231V			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	231					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			AGACAGGCAAGACAATACCAA	0.478000													44	142					0	0	0.003610	0	0
HDX	139324	broad.mit.edu	37	X	83724401	83724401	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:83724401T>C	ENST00000297977.5	-	3	441	c.330A>G	c.(328-330)atA>atG	p.I110M	HDX_ENST00000373177.2_Missense_Mutation_p.I110M|HDX_ENST00000506585.2_Missense_Mutation_p.I52M	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	110						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I110M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGACTGTATATACCAGTTA	0.408000													28	89					0	0	0.005443	0	0
OR52A1	23538	broad.mit.edu	37	11	5173296	5173296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:5173296G>A	ENST00000380367.1	-	2	721	c.304C>T	c.(304-306)Caa>Taa	p.Q102*	OR52A1_ENST00000328942.1_Nonsense_Mutation_p.Q102*			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	102					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCACATTTGAAGCAAGCAG	0.458000													8	23					0	0	0.003080	0	0
LRIG2	9860	broad.mit.edu	37	1	113657294	113657294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:113657294C>T	ENST00000361127.4	+	15	2524	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	776	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGGACAGAACGTGGCCACAT	0.463000													25	104					0	0	0.003330	0	0
P4HTM	54681	broad.mit.edu	37	3	49042401	49042401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:49042401G>A	ENST00000343546.4	+	6	1363	c.995G>A	c.(994-996)gGg>gAg	p.G332E	P4HTM_ENST00000383729.4_Missense_Mutation_p.G332E	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	332	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GTGGACAGTGGGCCTGTGTAC	0.617000													26	48					0	0	0.003330	0	0
CASC5	57082	broad.mit.edu	37	15	40951562	40951562	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:40951562G>A	ENST00000346991.5	+	26	7207	c.6817G>A	c.(6817-6819)Gca>Aca	p.A2273T	CASC5_ENST00000399668.2_Missense_Mutation_p.A2247T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2273	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTCTAGCTCCGCAGCATTTGC	0.333000													20	39					0	0	0.008871	0	0
EPC2	26122	broad.mit.edu	37	2	149526743	149526743	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:149526743G>A	ENST00000258484.6	+	8	1198	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	388					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TATCAGAACCGGAAGAAGAAA	0.388000													7	14					0	0	0.004482	0	0
MTBP	27085	broad.mit.edu	37	8	121475947	121475947	+	Silent	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:121475947T>C	ENST00000305949.1	+	10	1038	c.993T>C	c.(991-993)agT>agC	p.S331S		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	331					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGACAAACAGTACCAAACAGA	0.343000													24	136					0	0	0.003330	0	0
CHORDC1	26973	broad.mit.edu	37	11	89944413	89944413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:89944413G>C	ENST00000320585.6	-	5	812	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V	CHORDC1_ENST00000457199.2_Missense_Mutation_p.L116V	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	135	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CCTGATGACAGTTTAAGTTTA	0.303000													18	65					0	0	0.007413	0	0
NUF2	83540	broad.mit.edu	37	1	163325191	163325191	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:163325191G>T	ENST00000271452.3	+	14	1606	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	NUF2_ENST00000367900.3_Missense_Mutation_p.D443Y|NUF2_ENST00000524800.1_Missense_Mutation_p.D396Y	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	443	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GGCAGCAGAGGACTCCTATGC	0.338000													9	25					0.000442599	0.000505017	0.006214	1	0
C5orf24	134553	broad.mit.edu	37	5	134190804	134190804	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:134190804A>G	ENST00000394976.3	+	2	442	c.214A>G	c.(214-216)Ata>Gta	p.I72V	C5orf24_ENST00000504727.1_Missense_Mutation_p.I72V|C5orf24_ENST00000338051.4_Missense_Mutation_p.I72V|C5orf24_ENST00000435259.2_Missense_Mutation_p.I72V	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	72										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCAGAAGCATAGAAATAAA	0.453000													28	55					0	0	0.005443	0	0
TAF1	6872	broad.mit.edu	37	X	70612527	70612527	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:70612527T>A	ENST00000449580.1	+	19	2938	c.2887T>A	c.(2887-2889)Ttc>Atc	p.F963I	TAF1_ENST00000373790.4_Missense_Mutation_p.F963I|TAF1_ENST00000276072.3_Missense_Mutation_p.F984I|TAF1_ENST00000423759.1_Missense_Mutation_p.F984I			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	963					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGTGAAGGATTCTCCTATGT	0.488000													17	78					0	0	0.007413	0	0
ZNF222	7673	broad.mit.edu	37	19	44536636	44536636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:44536636C>A	ENST00000187879.8	+	4	971	c.809C>A	c.(808-810)tCa>tAa	p.S270*	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Nonsense_Mutation_p.S310*	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGTCTTAGGTCAAGTCTTAAT	0.393000													34	97					9.04072e-19	1.10728e-18	0.003271	1	0
SGPL1	8879	broad.mit.edu	37	10	72631612	72631612	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:72631612A>G	ENST00000373202.3	+	11	1128	c.928A>G	c.(928-930)Ata>Gta	p.I310V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	310					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	CAAATACAAAATACCCCTTCA	0.433000													19	68					0	0	0.001523	0	0
APCS	325	broad.mit.edu	37	1	159558171	159558171	+	Silent	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:159558171G>C	ENST00000255040.2	+	2	442	c.345G>C	c.(343-345)gtG>gtC	p.V115V		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	115	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATCTGTGTGAGCTGGGAGT	0.433000													12	55					0	0	0.000978	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063019	76063019	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:76063019T>A	ENST00000260045.3	-	5	1280	c.1175A>T	c.(1174-1176)cAt>cTt	p.H392L		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	392					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGGTGATCGATGGAAAAAAGA	0.378000													10	36					0	0	0.008291	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688671	111688671	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:111688671C>T	ENST00000431670.2	+	16	3861	c.3450C>T	c.(3448-3450)ctC>ctT	p.L1150L	PHLDB2_ENST00000412622.1_Silent_p.L1107L|PHLDB2_ENST00000495180.1_Silent_p.L641L|PHLDB2_ENST00000393925.3_Silent_p.L1150L|PHLDB2_ENST00000393923.3_Silent_p.L1134L|PHLDB2_ENST00000481953.1_Silent_p.L1107L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1150	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.L1107L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGGATTCCTCATCAAAATGG	0.418000													18	78					0	0	0.004990	0	0
DLG2	1740	broad.mit.edu	37	11	83874509	83874509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:83874509C>T	ENST00000398309.2	-	4	774	c.304G>A	c.(304-306)Gag>Aag	p.E102K	DLG2_ENST00000531015.1_Missense_Mutation_p.E69K|DLG2_ENST00000418306.2_Missense_Mutation_p.E51K|DLG2_ENST00000398301.2_Missense_Mutation_p.E141K|DLG2_ENST00000376104.2_Missense_Mutation_p.E207K|DLG2_ENST00000280241.8_Missense_Mutation_p.E141K|DLG2_ENST00000543673.1_Missense_Mutation_p.E207K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.E41K|DLG2_ENST00000532653.1_Missense_Mutation_p.E102K|DLG2_ENST00000524982.1_Missense_Mutation_p.E102K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	102	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTACCCTCTCCAGTGTAATT	0.308000													7	26					0	0	0.003080	0	0
PCLO	27445	broad.mit.edu	37	7	82545553	82545553	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:82545553G>T	ENST00000423517.2	-	7	12086	c.11749C>A	c.(11749-11751)Cag>Aag	p.Q3917K	PCLO_ENST00000333891.8_Missense_Mutation_p.Q3917K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q637K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3848					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAACTTGCTGATGGTACAAA	0.463000													119	316					3.89651e-80	4.86154e-80	0.003610	1	0
MYO16	23026	broad.mit.edu	37	13	109699324	109699324	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:109699324C>G	ENST00000356711.2	+	24	2917	c.2791C>G	c.(2791-2793)Cta>Gta	p.L931V	MYO16_ENST00000457511.2_Missense_Mutation_p.L443V|MYO16_ENST00000357550.2_Missense_Mutation_p.L931V|MYO16_ENST00000251041.5_Missense_Mutation_p.L931V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	931	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACAGAATCTTCTATTTGTAAT	0.313000													14	46					0	0	0.004007	0	0
ACO2	50	broad.mit.edu	37	22	41922358	41922358	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:41922358C>T	ENST00000396512.3	+	15	1946	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	POLR3H_ENST00000355209.4_3'UTR|ACO2_ENST00000216254.4_Silent_p.L618L|POLR3H_ENST00000396504.2_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	618					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ACAACCTGCTCATTGGTGCCA	0.562000											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	122					0	0	0.000248	0	0
OR11L1	391189	broad.mit.edu	37	1	248004352	248004352	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:248004352G>T	ENST00000355784.2	-	1	902	c.847C>A	c.(847-849)Cca>Aca	p.P283T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCAGCAGTGGTGTGACCACA	0.443000													17	58					1.02788e-11	1.2252e-11	0.004990	1	0
CTTN	2017	broad.mit.edu	37	11	70263146	70263146	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:70263146A>G	ENST00000346329.3	+	8	793	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	CTTN_ENST00000376561.3_Missense_Mutation_p.Y162C|CTTN_ENST00000301843.8_Missense_Mutation_p.Y162C	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	162						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGCGGCAAGTATGGCGTGCAG	0.582000													26	93					0	0	0.006320	0	0
IGSF1	3547	broad.mit.edu	37	X	130415220	130415220	+	Silent	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:130415220T>G	ENST00000370904.1	-	15	2501	c.1591A>C	c.(1591-1593)Agg>Cgg	p.R531R	IGSF1_ENST00000370910.1_Silent_p.R531R|IGSF1_ENST00000361420.3_Silent_p.R540R|IGSF1_ENST00000370903.3_Silent_p.R540R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	540					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACTTCCACCTTATCCACAGC	0.493000													78	215					0	0	0.003610	0	0
NAV2	89797	broad.mit.edu	37	11	20136232	20136232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:20136232C>T	ENST00000396085.1	+	38	7425	c.7064C>T	c.(7063-7065)cCc>cTc	p.P2355L	NAV2_ENST00000540292.1_Missense_Mutation_p.P2342L|NAV2_ENST00000360655.4_Missense_Mutation_p.P2288L|NAV2_ENST00000533917.1_Missense_Mutation_p.P1416L|NAV2_ENST00000311043.8_Missense_Mutation_p.P1416L|NAV2_ENST00000349880.4_Missense_Mutation_p.P2352L|NAV2_ENST00000527559.2_Missense_Mutation_p.P2340L|NAV2_ENST00000396087.3_Missense_Mutation_p.P2411L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2411						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGTGGCCTCCCCTGCTGCAG	0.612000													13	24					0	0	0.001855	0	0
TCEAL7	56849	broad.mit.edu	37	X	102586386	102586386	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:102586386A>T	ENST00000332431.4	+	3	309	c.55A>T	c.(55-57)Agg>Tgg	p.R19W	TCEAL7_ENST00000372666.1_Missense_Mutation_p.R19W	NM_152278.3	NP_689491.1	Q9BRU2	TCAL7_HUMAN	transcription elongation factor A (SII)-like 7	19					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R19W(1)		endometrium(1)|upper_aerodigestive_tract(1)	2						cgtgccaaagagggaggaaaa	0.433000													3	8					0	0	0.004672	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555158	44555158	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:44555158G>A	ENST00000330682.2	-	1	1291	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	352	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.L352L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCACGTCGCCGAGGGCGTCCG	0.652000													11	1102					0	0	0.006214	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	59					0	0	0.001368	0	0
MALAT1	378938	broad.mit.edu	37	11	65266549	65266549	+	RNA	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:65266549T>C	ENST00000534336.1	+	0	1317					NR_002819.2																						GGGCTTCTGCTGAGGGGGCAG	0.478000													21	71					0	0	0.001882	0	0
MCF2	4168	broad.mit.edu	37	X	138686866	138686866	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:138686866T>A	ENST00000520602.1	-	18	2182	c.1897A>T	c.(1897-1899)Aga>Tga	p.R633*	MCF2_ENST00000519895.1_Nonsense_Mutation_p.R649*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.R589*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.R573*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.R633*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.R718*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.R573*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.R534*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	573	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCACTCTTTCTGGAGCA	0.308000													8	14					0	0	0.004482	0	0
AFF4	27125	broad.mit.edu	37	5	132222032	132222032	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:132222032C>T	ENST00000265343.5	-	18	3448	c.3069G>A	c.(3067-3069)aaG>aaA	p.K1023K		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1023					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTTGAGTACTTCAGAGCAT	0.473000													38	82					0	0	0.005524	0	0
C2CD3	26005	broad.mit.edu	37	11	73803532	73803532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:73803532C>T	ENST00000334126.7	-	19	3672	c.3446G>A	c.(3445-3447)gGa>gAa	p.G1149E	C2CD3_ENST00000313663.7_Missense_Mutation_p.G1149E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1149						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTCTGTATTCCCACATCCTC	0.423000													9	49					0	0	0.006214	0	0
PGAP1	80055	broad.mit.edu	37	2	197738421	197738421	+	Silent	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:197738421C>G	ENST00000354764.3	-	15	1602	c.1488G>C	c.(1486-1488)ctG>ctC	p.L496L	PGAP1_ENST00000409475.1_Silent_p.L496L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	496					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTCCAAAGTTCAGAAGCTCTA	0.294000													15	48					0	0	0.004990	0	0
DSG3	1830	broad.mit.edu	37	18	29055986	29055986	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:29055986C>T	ENST00000257189.4	+	16	2846	c.2763C>T	c.(2761-2763)tcC>tcT	p.S921S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	921					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTGTTTCCATCCCTGACC	0.507000													22	70					0	0	0.001523	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	50					0	0	0.008291	0	0
GFAP	2670	broad.mit.edu	37	17	42992693	42992693	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:42992693C>T	ENST00000253408.5	-	1	227	c.162G>A	c.(160-162)ctG>ctA	p.L54L	GFAP_ENST00000435360.2_Silent_p.L54L|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.L54L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	54	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTGCCCCAGCCAGGGAGAAAT	0.657000													18	40					0	0	0.004990	0	0
ZEB2	9839	broad.mit.edu	37	2	145156648	145156648	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:145156648A>G	ENST00000558170.2	-	8	3290	c.2106T>C	c.(2104-2106)aaT>aaC	p.N702N	ZEB2_ENST00000409487.3_Silent_p.N702N|ZEB2_ENST00000539609.3_Silent_p.N678N|ZEB2_ENST00000303660.4_Silent_p.N702N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	702						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGACCTGGAATTTGAGTACT	0.463000													48	155					0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65393633	65393633	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:65393633C>T	ENST00000519389.1	+	4	956	c.777C>T	c.(775-777)acC>acT	p.T259T	HEPH_ENST00000374727.3_Silent_p.T208T|HEPH_ENST00000419594.1_Silent_p.T208T|HEPH_ENST00000343002.2_Silent_p.T205T|HEPH_ENST00000441993.2_Silent_p.T208T|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	205	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTCATCACCTGTAAAAGAG	0.498000													5	13					0	0	0.000602	0	0
SV2B	9899	broad.mit.edu	37	15	91835756	91835756	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:91835756G>C	ENST00000394232.1	+	13	2496	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	SV2B_ENST00000330276.4_Missense_Mutation_p.E676Q|SV2B_ENST00000545111.2_Missense_Mutation_p.E525Q	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	676					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.E676Q(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCGACTGCCAGAGACTCGAGA	0.507000													31	82					0	0	0.002836	0	0
PSMD1	5707	broad.mit.edu	37	2	231944262	231944262	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:231944262A>G	ENST00000308696.6	+	11	1335	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E	PSMD1_ENST00000409643.1_Silent_p.E391E|PSMD1_ENST00000373635.4_Silent_p.E391E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	391					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATAATTTGGAATGGTTAGCCA	0.313000													6	21					0	0	0.004482	0	0
IPMK	253430	broad.mit.edu	37	10	59976032	59976032	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:59976032G>A	ENST00000373935.3	-	4	742	c.420C>T	c.(418-420)ccC>ccT	p.P140P		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	140	Substrate binding (By similarity).					nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCATTATACAGGGCTTATTAA	0.328000													9	38					0	0	0.004482	0	0
STC1	6781	broad.mit.edu	37	8	23709899	23709899	+	Splice_Site	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:23709899T>A	ENST00000290271.2	-	2	402		c.e2-2		STC1_ENST00000524323.1_Splice_Site	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1						cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.?(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCACTTCAGCTGAAAGAGACA	0.507000													19	34					0	0	0.001523	0	0
KIF9	64147	broad.mit.edu	37	3	47284589	47284589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:47284589A>G	ENST00000335044.2	-	16	2018	c.1661T>C	c.(1660-1662)aTt>aCt	p.I554T	KIF9_ENST00000352910.4_Intron|KIF9_ENST00000444589.2_Intron|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000265529.3_Missense_Mutation_p.I554T|KIF9_ENST00000452770.2_Missense_Mutation_p.I554T|KIF9_ENST00000487440.1_5'UTR	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	554					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGGGGCTCAATGCTGGAAGT	0.498000													16	41					0	0	0.006122	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130764620	130764620	+	Silent	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:130764620C>G	ENST00000509018.1	-	27	4960	c.4755G>C	c.(4753-4755)gtG>gtC	p.V1585V	RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000296859.6_Silent_p.V1593V|RAPGEF6_ENST00000507093.1_Intron|FNIP1_ENST00000514667.1_Silent_p.V1635V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1585					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTGCATCAGTCACATCTCCTA	0.418000													22	74					0	0	0.002780	0	0
IKZF5	64376	broad.mit.edu	37	10	124758050	124758050	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:124758050C>G	ENST00000368886.5	-	3	412	c.92G>C	c.(91-93)gGa>gCa	p.G31A	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		ACTAACTGATCCAGAAATCAT	0.403000													19	61					0	0	0.001523	0	0
AKAP12	9590	broad.mit.edu	37	6	151672243	151672243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:151672243T>C	ENST00000402676.2	+	4	2957	c.2717T>C	c.(2716-2718)aTt>aCt	p.I906T	AKAP12_ENST00000359755.5_Missense_Mutation_p.I801T|AKAP12_ENST00000253332.1_Missense_Mutation_p.I906T|AKAP12_ENST00000354675.6_Missense_Mutation_p.I808T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	906					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.I906T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCTACCATTATTGAAGAAAGG	0.507000													15	41					0	0	0.003163	0	0
AMHR2	269	broad.mit.edu	37	12	53823690	53823690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:53823690C>T	ENST00000257863.4	+	9	1296	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Nonsense_Mutation_p.R406*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	406	Protein kinase.		R -> Q (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CATGGCCCTCCGACGAGCTGA	0.582000													16	47					0	0	0.003163	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106781346	106781346	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:106781346G>A	ENST00000265717.4	+	5	794	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	179					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CAAAGATGGGGAGCATGTAAT	0.328000													7	44					0	0	0.003080	0	0
DGKH	160851	broad.mit.edu	37	13	42783488	42783488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:42783488A>G	ENST00000379274.2	+	23	2758	c.2329A>G	c.(2329-2331)Ata>Gta	p.I777V	DGKH_ENST00000538674.1_Missense_Mutation_p.I668V|DGKH_ENST00000337343.4_Missense_Mutation_p.I913V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.I913V|DGKH_ENST00000536612.1_Missense_Mutation_p.I777V|DGKH_ENST00000540693.1_Missense_Mutation_p.I913V			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	913					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAAAATCACTATATTTGGTGA	0.393000													10	38					0	0	0.008291	0	0
RIMBP2	23504	broad.mit.edu	37	12	130934748	130934748	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:130934748T>C	ENST00000261655.4	-	6	690	c.527A>G	c.(526-528)tAt>tGt	p.Y176C	RIMBP2_ENST00000535703.1_Missense_Mutation_p.Y84C|RIMBP2_ENST00000536002.1_Missense_Mutation_p.Y84C	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	176	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACTTACCTATAGCGGGCAAC	0.562000													4	7					0	0	0.000602	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257490	41257490	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:41257490G>C	ENST00000307221.4	-	1	640	c.509C>G	c.(508-510)tCt>tGt	p.S170C	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	170					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GGAAGAGAAAGAAGTAAGGCC	0.353000													14	58					0	0	0.003163	0	0
GPR174	84636	broad.mit.edu	37	X	78427029	78427029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:78427029G>C	ENST00000276077.1	+	1	561	c.525G>C	c.(523-525)agG>agC	p.R175S		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	175						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTCCTACCAGGAATGTCAACC	0.483000										HNSCC(63;0.18)			19	64					0	0	0.006122	0	0
KNTC1	9735	broad.mit.edu	37	12	123078827	123078827	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:123078827C>G	ENST00000333479.7	+	43	4427	c.4250C>G	c.(4249-4251)tCt>tGt	p.S1417C	KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1417					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCTAGATTTCTTTTCAACCA	0.343000													21	54					0	0	0.001882	0	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	18					1.52009e-12	1.83649e-12	0.003163	1	0
TARBP1	6894	broad.mit.edu	37	1	234596074	234596074	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:234596074G>T	ENST00000040877.1	-	7	1467	c.1468C>A	c.(1468-1470)Cta>Ata	p.L490I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	490					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCTTAGATAGAAACAAAATG	0.378000													12	36					6.31663e-08	7.3648e-08	0.003163	1	0
KIAA1549	57670	broad.mit.edu	37	7	138602949	138602949	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:138602949C>G	ENST00000440172.1	-	2	1471	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E475Q|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E425Q	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	475						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATCTTCCTCAAATTCAGAG	0.483000			O	BRAF	pilocytic astrocytoma								14	31					0	0	0.001855	0	0
C11orf74	119710	broad.mit.edu	37	11	36654876	36654876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:36654876C>T	ENST00000446510.2	+	3	278	c.179C>T	c.(178-180)tCa>tTa	p.S60L	C11orf74_ENST00000534635.1_Intron|C11orf74_ENST00000334307.5_Missense_Mutation_p.S60L|C11orf74_ENST00000347206.4_Intron			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	60										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				ACTGATTCTTCAGAAAACATT	0.338000													8	34					0	0	0.003080	0	0
YAE1D1	57002	broad.mit.edu	37	7	39606030	39606030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:39606030C>T	ENST00000432096.2	+	1	26	c.13C>T	c.(13-15)Caa>Taa	p.Q5*	YAE1D1_ENST00000448268.1_Nonsense_Mutation_p.Q5*|YAE1D1_ENST00000223273.2_Nonsense_Mutation_p.Q5*			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	5																	GTCGTGGGTTCAAGCAGCCTC	0.622000													15	26					0	0	0.004990	0	0
ASB1	51665	broad.mit.edu	37	2	239344474	239344474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:239344474A>G	ENST00000264607.4	+	3	561	c.314A>G	c.(313-315)gAt>gGt	p.D105G	ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	105					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GCCGAGGTGGATCTGGTGGAC	0.627000													12	29					0	0	0.002450	0	0
JADE2	23338	broad.mit.edu	37	5	133896507	133896507	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:133896507A>G	ENST00000395003.1	+	6	723	c.544A>G	c.(544-546)Atg>Gtg	p.M182V	PHF15_ENST00000282605.4_Missense_Mutation_p.M182V|PHF15_ENST00000402835.1_Missense_Mutation_p.M182V|PHF15_ENST00000361895.2_Missense_Mutation_p.M182V	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		182					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACCAGAATATGGCCAGGGC	0.617000													10	31					0	0	0.008291	0	0
GPR68	8111	broad.mit.edu	37	14	91700861	91700861	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:91700861G>C	ENST00000535815.1	-	2	874	c.534C>G	c.(532-534)atC>atG	p.I178M	GPR68_ENST00000238699.3_Missense_Mutation_p.I188M|GPR68_ENST00000531499.2_Missense_Mutation_p.I178M	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	178					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GCCATGCCTGGATGGGGTAGT	0.622000													3	18					0	0	0.000248	0	0
LRP1B	53353	broad.mit.edu	37	2	141625820	141625820	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:141625820C>G	ENST00000389484.3	-	26	5153	c.4182G>C	c.(4180-4182)tgG>tgC	p.W1394C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1394					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)		CCCAGTCTGTCCAGAAAAGAA	0.358000										TSP Lung(27;0.18)			9	33					0	0	0.006214	0	0
VPS37A	137492	broad.mit.edu	37	8	17142026	17142026	+	Silent	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:17142026A>T	ENST00000324849.4	+	10	1688	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	VPS37A_ENST00000521829.1_Silent_p.A313A	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	338	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AAGTAGCTGCACATGAAGCTG	0.393000													27	21					0	0	0.006320	0	0
MBTPS1	8720	broad.mit.edu	37	16	84104310	84104310	+	Silent	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	555					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522000													16	73					0	0	0.004990	0	0
NDUFB11	54539	broad.mit.edu	37	X	47002066	47002066	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:47002066G>A	ENST00000377811.3	-	2	1109	c.285C>T	c.(283-285)gtC>gtT	p.V95V	NDUFB11_ENST00000276062.8_Silent_p.V95V	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	95					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GGATGATGGAGACGCCAAAGA	0.537000													27	61					0	0	0.005443	0	0
BAHCC1	57597	broad.mit.edu	37	17	79410170	79410170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:79410170G>A	ENST00000307745.7	+	9	1795	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K																								CATCAGCGAGGAGCGCAAGGC	0.706000													11	30					0	0	0.000978	0	0
BTN1A1	696	broad.mit.edu	37	6	26509146	26509146	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:26509146C>G	ENST00000244513.6	+	7	1391	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	442	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AATGATGGATCTGATATCTAT	0.517000													11	37					0	0	0.008291	0	0
CHST6	4166	broad.mit.edu	37	16	75513142	75513142	+	Silent	SNP	T	T	C	rs138994371		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:75513142T>C	ENST00000332272.4	-	3	764	c.585A>G	c.(583-585)ctA>ctG	p.L195L	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.L195L	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	195					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCACGATGCGTAGGTTGAGCG	0.687000													11	44					0	0	0.008291	0	0
VAV3	10451	broad.mit.edu	37	1	108116684	108116684	+	Silent	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:108116684T>A	ENST00000370056.4	-	26	2761	c.2487A>T	c.(2485-2487)ggA>ggT	p.G829G	VAV3_ENST00000415432.2_Silent_p.G269G|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.G857G|VAV3_ENST00000544443.1_Silent_p.G233G	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	829	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CATTTACTTCTCCTCTCCACC	0.483000													47	209					0	0	0.003610	0	0
HCFC1	3054	broad.mit.edu	37	X	153227686	153227686	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:153227686T>C	ENST00000310441.7	-	5	1750	c.784A>G	c.(784-786)Acc>Gcc	p.T262A	HCFC1_ENST00000354233.3_Missense_Mutation_p.T262A|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Missense_Mutation_p.T262A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	262					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCGATGGTGGTTGCCGAG	0.587000													3	30					0	0	0.004672	0	0
USP34	9736	broad.mit.edu	37	2	61415337	61415337	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:61415337A>G	ENST00000398571.2	-	80	10617	c.10541T>C	c.(10540-10542)aTg>aCg	p.M3514T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3514					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGTTGCTGCATATGACTAAA	0.468000													16	68					0	0	0.004990	0	0
PRDX4	10549	broad.mit.edu	37	X	23700515	23700515	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:23700515G>A	ENST00000379341.4	+	5	727	c.602G>A	c.(601-603)gGt>gAt	p.G201D		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	201	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	p.G201D(1)		lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTTACAGAGGTCTCTTCATT	0.373000													12	37					0	0	0.000978	0	0
NUP205	23165	broad.mit.edu	37	7	135279436	135279436	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:135279436G>C	ENST00000285968.6	+	13	1998	c.1972G>C	c.(1972-1974)Gaa>Caa	p.E658Q	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	658					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAAATCTCCTGAAATTGCTGC	0.463000													20	48					0	0	0.001523	0	0
TENM2	57451	broad.mit.edu	37	5	167655115	167655115	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:167655115A>G	ENST00000519204.1	+	24	5255	c.5137A>G	c.(5137-5139)Atc>Gtc	p.I1713V	TENM2_ENST00000520394.1_Missense_Mutation_p.I1595V|TENM2_ENST00000545108.1_Missense_Mutation_p.I1833V|TENM2_ENST00000518659.1_Missense_Mutation_p.I1834V|TENM2_ENST00000403607.2_Missense_Mutation_p.I1658V					teneurin transmembrane protein 2																		CAAAGTCACCATCTTTGGCAG	0.498000													9	15					0	0	0.006214	0	0
GRK7	131890	broad.mit.edu	37	3	141499575	141499575	+	Silent	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:141499575G>T	ENST00000264952.2	+	2	1109	c.972G>T	c.(970-972)ctG>ctT	p.L324L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	324	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGTGCTTCTGGATGACCTCG	0.587000													6	27					0.000157383	0.000181911	0.003080	1	0
GRM1	2911	broad.mit.edu	37	6	146720766	146720766	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:146720766A>G	ENST00000392299.2	+	8	3061	c.2591A>G	c.(2590-2592)aAg>aGg	p.K864R	GRM1_ENST00000282753.1_Missense_Mutation_p.K864R|GRM1_ENST00000355289.4_Missense_Mutation_p.K864R|GRM1_ENST00000507907.1_Missense_Mutation_p.K864R|GRM1_ENST00000492807.2_Missense_Mutation_p.K864R|GRM1_ENST00000361719.2_Missense_Mutation_p.K864R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	864					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCGATGGCAAGCTGCCCTGC	0.507000													8	27					0	0	0.000978	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14780007	14780007	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:14780007C>G	ENST00000358984.4	+	11	1649	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.S490C|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	490										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAGAATATTCTTGGGATTCT	0.313000													5	11					0	0	0.001168	0	0
PTPN21	11099	broad.mit.edu	37	14	88945670	88945670	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:88945670G>C	ENST00000556564.1	-	13	2389	c.2105C>G	c.(2104-2106)tCg>tGg	p.S702W	PTPN21_ENST00000328736.3_Missense_Mutation_p.S702W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	702						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTGGCGTCCGACAGGGACTT	0.672000													15	49					0	0	0.004007	0	0
SP8	221833	broad.mit.edu	37	7	20824321	20824321	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:20824321C>A	ENST00000361443.4	-	3	1298	c.1061G>T	c.(1060-1062)gGc>gTc	p.G354V	SP8_ENST00000418710.2_Missense_Mutation_p.G372V	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCTGTGCAGGCCCTTGCGCCG	0.721000													9	20					0.00448238	0.00509275	0.004482	1	0
WDR63	126820	broad.mit.edu	37	1	85547058	85547058	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:85547058C>A	ENST00000294664.6	+	4	425	c.245C>A	c.(244-246)gCt>gAt	p.A82D	WDR63_ENST00000370596.1_Missense_Mutation_p.A82D|WDR63_ENST00000326813.8_Missense_Mutation_p.A82D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	82								p.A82D(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CGCAACAGAGCTGCAGTATCT	0.368000													13	50					0.000308642	0.00035368	0.003163	1	0
PDE6C	5146	broad.mit.edu	37	10	95399902	95399902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:95399902G>A	ENST00000371447.3	+	12	1696	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	520					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TACAGAGCACGGATTGATTAA	0.403000													30	71					0	0	0.008361	0	0
OR2M5	127059	broad.mit.edu	37	1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	rs147580819		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463000													73	182					0	0	0.003610	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370532	86370532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:86370532C>T	ENST00000400286.2	-	2	710	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	38	LRRNT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCTTTTTCCTCACAATTGCAA	0.398000													4	51					0	0	0.000602	0	0
FOXI1	2299	broad.mit.edu	37	5	169535280	169535280	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:169535280C>T	ENST00000306268.6	+	2	863	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	268					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGAAGCGGCCCTCCCCTCC	0.647000									Pendred syndrome				17	63					0	0	0.006122	0	0
AHNAK	79026	broad.mit.edu	37	11	62285788	62285788	+	Silent	SNP	T	T	C	rs146188257		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:62285788T>C	ENST00000378024.4	-	5	16375	c.16101A>G	c.(16099-16101)ggA>ggG	p.G5367G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5367					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCAGGCTTGGTCCCCTCAGTG	0.547000													21	70					0	0	0.001882	0	0
VPS37B	79720	broad.mit.edu	37	12	123355461	123355461	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:123355461A>C	ENST00000267202.2	-	2	640	c.259T>G	c.(259-261)Tat>Gat	p.Y87D		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	87	Interaction with IST1.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TTTATCTGATAGGCTTCAAAG	0.448000													24	79					0	0	0.006320	0	0
NDUFA5	4698	broad.mit.edu	37	7	123185711	123185711	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:123185711A>C	ENST00000471770.1	-	4	337	c.203T>G	c.(202-204)tTa>tGa	p.L68*	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000355749.2_Nonsense_Mutation_p.L68*			Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	68					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	TTGGTCTTCTAATTTTTTAAC	0.303000													3	82					0	0	0.000248	0	0
USP19	10869	broad.mit.edu	37	3	49155121	49155121	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:49155121G>C	ENST00000453664.1	-	4	759	c.441C>G	c.(439-441)ttC>ttG	p.F147L	USP19_ENST00000398892.3_Missense_Mutation_p.F85L|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.F85L|USP19_ENST00000417901.1_Missense_Mutation_p.F147L|USP19_ENST00000398888.2_Missense_Mutation_p.F147L|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000434032.2_Missense_Mutation_p.F147L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	147	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ctgtatctgtgaaagcagcat	0.502000													14	38					0	0	0.001855	0	0
SCAF11	9169	broad.mit.edu	37	12	46320591	46320591	+	Missense_Mutation	SNP	G	G	A	rs112858085		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:46320591G>A	ENST00000465950.1	-	1	3157	c.1948C>T	c.(1948-1950)Cgg>Tgg	p.R650W	SCAF11_ENST00000549162.1_Missense_Mutation_p.R773W|SCAF11_ENST00000419565.2_Missense_Mutation_p.R965W|SCAF11_ENST00000369367.3_Missense_Mutation_p.R965W			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	965					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						CCCTTCCACCGGGGAGAGTAA	0.428000													41	138					0	0	0.006999	0	0
HIF3A	64344	broad.mit.edu	37	19	46828852	46828852	+	Missense_Mutation	SNP	G	G	A	rs139513428		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:46828852G>A	ENST00000339613.2	+	11	1483	c.1228G>A	c.(1228-1230)Ggg>Agg	p.G410R	HIF3A_ENST00000600383.1_Missense_Mutation_p.G397R|HIF3A_ENST00000472815.1_Missense_Mutation_p.G397R|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.G464R|HIF3A_ENST00000420102.2_Missense_Mutation_p.G415R|HIF3A_ENST00000244303.6_Missense_Mutation_p.G397R|HIF3A_ENST00000377670.4_Missense_Mutation_p.G466R			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.G464R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTTCACCTCCGGGAAAGACAC	0.507000													45	129					0	0	0.002852	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	45					0	0	0.000602	0	0
CLPB	81570	broad.mit.edu	37	11	72013356	72013356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:72013356G>A	ENST00000294053.3	-	11	1422	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	CLPB_ENST00000538039.1_Nonsense_Mutation_p.R387*|CLPB_ENST00000543042.1_Nonsense_Mutation_p.R216*|CLPB_ENST00000538021.1_Nonsense_Mutation_p.R25*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.R372*|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000340729.5_Nonsense_Mutation_p.R358*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	417					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ACCTCGTGTCGCTCCTGGAAC	0.522000													9	56					0	0	0.006214	0	0
HDAC6	10013	broad.mit.edu	37	X	48665100	48665100	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:48665100A>T	ENST00000334136.5	+	8	797	c.619A>T	c.(619-621)Atg>Ttg	p.M207L	HDAC6_ENST00000444343.2_Missense_Mutation_p.M221L|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.M207L|HDAC6_ENST00000413163.2_Missense_Mutation_p.M152L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	207	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.M207L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCGGAATGGCATGGCCATCAT	0.473000													13	31					0	0	0.001368	0	0
NETO1	81832	broad.mit.edu	37	18	70461478	70461478	+	Splice_Site	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:70461478C>T	ENST00000327305.6	-	6	1170	c.511_splice	c.e6-1	p.A171_splice	NETO1_ENST00000299430.2_Splice_Site_p.A170_splice|NETO1_ENST00000583169.1_Splice_Site_p.A171_splice	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	171					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.A171A(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAAACTCACACGCTAAATAAC	0.388000													19	61					0	0	0.006122	0	0
NAV2	89797	broad.mit.edu	37	11	20136233	20136233	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:20136233C>T	ENST00000396085.1	+	38	7426	c.7065C>T	c.(7063-7065)ccC>ccT	p.P2355P	NAV2_ENST00000540292.1_Silent_p.P2342P|NAV2_ENST00000360655.4_Silent_p.P2288P|NAV2_ENST00000533917.1_Silent_p.P1416P|NAV2_ENST00000311043.8_Silent_p.P1416P|NAV2_ENST00000349880.4_Silent_p.P2352P|NAV2_ENST00000527559.2_Silent_p.P2340P|NAV2_ENST00000396087.3_Silent_p.P2411P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2411						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGTGGCCTCCCCTGCTGCAGT	0.617000													13	24					0	0	0.001855	0	0
CHD1L	9557	broad.mit.edu	37	1	146739091	146739091	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:146739091T>G	ENST00000369258.4	+	9	922	c.902T>G	c.(901-903)tTt>tGt	p.F301C	CHD1L_ENST00000361293.5_Missense_Mutation_p.F20C|CHD1L_ENST00000369259.3_Missense_Mutation_p.F97C|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.F301C	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	301					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.F301C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TCAGATGCATTTGAAAATGAG	0.368000													9	28					0	0	0.004482	0	0
ZFP3	124961	broad.mit.edu	37	17	4994843	4994843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:4994843C>T	ENST00000318833.3	+	2	380	c.44C>T	c.(43-45)tCt>tTt	p.S15F		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAAGAAATTTCTGAAGAATCT	0.403000													16	15					0	0	0.003163	0	0
OR11L1	391189	broad.mit.edu	37	1	248004351	248004351	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:248004351G>T	ENST00000355784.2	-	1	903	c.848C>A	c.(847-849)cCa>cAa	p.P283Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTTCAGCAGTGGTGTGACCAC	0.443000													17	59					1.02788e-11	1.2252e-11	0.004990	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98775038	98775038	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:98775038C>T	ENST00000407474.3	+	4	1662	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CCATGAAAGACCAACAGGACC	0.423000													9	35					0	0	0.004482	0	0
VPS13B	157680	broad.mit.edu	37	8	100831673	100831673	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:100831673C>T	ENST00000358544.2	+	48	8841	c.8730C>T	c.(8728-8730)ccC>ccT	p.P2910P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P2885P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2910					protein transport			p.P2885P(1)|p.P2910P(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCAGTTCCCATCTCAACAT	0.363000													7	60					0	0	0.003080	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433149	104433149	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:104433149C>G	ENST00000361820.3	-	3	2145	c.1545G>C	c.(1543-1545)ttG>ttC	p.L515F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	515					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAACCACTCTCAAGTGTAGCT	0.507000													26	142					0	0	0.004656	0	0
VSIG1	340547	broad.mit.edu	37	X	107301344	107301344	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:107301344C>G	ENST00000415430.3	+	2	287	c.126C>G	c.(124-126)atC>atG	p.I42M	VSIG1_ENST00000217957.5_Missense_Mutation_p.I42M	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	42	Ig-like V-type 1.					integral to membrane		p.I42M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCACTCTCATCTGCATCTACA	0.448000													19	56					0	0	0.006122	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79734575	79734575	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:79734575A>G	ENST00000338008.5	+	3	2251	c.2071A>G	c.(2071-2073)Ata>Gta	p.I691V	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.I691V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.I691V	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	691					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CACTTGTGCTATAGATTCTAC	0.388000													16	35					0	0	0.003163	0	0
ABRACL	58527	broad.mit.edu	37	6	139363993	139363993	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:139363993C>T	ENST00000367660.3	+	3	399	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_021243.2	NP_067066.1	Q9P1F3	CF115_HUMAN	ABRA C-terminal like	67																	AGAGCTGCTTCTGCAAGGTGT	0.373000													34	101					0	0	0.004289	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162473	141162473	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:141162473A>G	ENST00000514251.1	+	4	1522	c.1243A>G	c.(1243-1245)Att>Gtt	p.I415V	ZBTB38_ENST00000441582.2_Missense_Mutation_p.I415V|ZBTB38_ENST00000321464.5_Missense_Mutation_p.I416V			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	415					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTATCCTACCATTGGACAAAA	0.448000													27	77					0	0	0.007291	0	0
ERCC3	2071	broad.mit.edu	37	2	128044295	128044295	+	Silent	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:128044295T>C	ENST00000493187.2	-	8	1597	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E	ERCC3_ENST00000285398.2_Silent_p.E442E			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	442	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGGTGTGCACTTCATCCAGGA	0.557000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				23	84					0	0	0.003954	0	0
RIC8A	60626	broad.mit.edu	37	11	209939	209939	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:209939T>C	ENST00000526104.1	+	3	2009	c.665T>C	c.(664-666)aTg>aCg	p.M222T	RIC8A_ENST00000325207.5_Missense_Mutation_p.M222T|RIC8A_ENST00000527696.1_Missense_Mutation_p.M216T			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	222						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCGGGCCATGGAGATCCTC	0.587000													7	33					0	0	0.003080	0	0
CYLC2	1539	broad.mit.edu	37	9	105767470	105767470	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:105767470A>G	ENST00000374798.3	+	5	627	c.557A>G	c.(556-558)aAg>aGg	p.K186R	CYLC2_ENST00000487798.1_Missense_Mutation_p.K186R	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	186	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ggaggtgcaaagaaagataac	0.363000													6	12					0	0	0.001168	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214579	7214579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:7214579C>T	ENST00000361972.4	-	18	2119	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	SFMBT2_ENST00000397167.1_Missense_Mutation_p.G677R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	677					regulation of transcription, DNA-dependent	nucleus		p.G677R(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTGCTTTCCCCGATGGGGGGC	0.517000													23	52					0	0	0.003330	0	0
CSMD3	114788	broad.mit.edu	37	8	114327022	114327022	+	Splice_Site	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:114327022C>T	ENST00000297405.5	-	2	423	c.178_splice	c.e2-1	p.G60_splice	CSMD3_ENST00000455883.2_Splice_Site_p.G60_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G60_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G20_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	60						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAATAAATCCTGCAACAAA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	93					0	0	0.001523	0	0
SBF2	81846	broad.mit.edu	37	11	10215531	10215531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:10215531G>A	ENST00000256190.8	-	2	196	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	20	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.S20L(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACCTTCTCCTGATCCTGTTAA	0.333000													3	15					0	0	0.004672	0	0
ACVR1B	91	broad.mit.edu	37	12	52380658	52380658	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:52380658T>G	ENST00000257963.4	+	7	1270	c.1193T>G	c.(1192-1194)tTt>tGt	p.F398C	ACVR1B_ENST00000426655.2_Missense_Mutation_p.F398C|ACVR1B_ENST00000415850.2_Missense_Mutation_p.F398C|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000542485.1_Missense_Mutation_p.F346C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.F439C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	398	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTTGACTCCTTTAAATGTGCT	0.408000													33	84					0	0	0.003271	0	0
SI	6476	broad.mit.edu	37	3	164735778	164735778	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:164735778A>T	ENST00000264382.3	-	29	3562	c.3500T>A	c.(3499-3501)tTa>tAa	p.L1167*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1167	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.L1167*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCTGTTGAGTAAGAAAACACC	0.338000										HNSCC(35;0.089)			26	31					0	0	0.002096	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069124	6069124	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:6069124A>C	ENST00000381095.3	-	2	1011	c.384T>G	c.(382-384)ttT>ttG	p.F128L	NLGN4X_ENST00000381093.2_Missense_Mutation_p.F128L|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.F128L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.F128L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.F128L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	128					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AATTGGCGGTAAACCAGATGG	0.478000													25	90					0	0	0.002780	0	0
GLE1	2733	broad.mit.edu	37	9	131285595	131285595	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:131285595A>G	ENST00000309971.4	+	5	724	c.618A>G	c.(616-618)aaA>aaG	p.K206K	GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Silent_p.K206K	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	206					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGAAGCTAAAAGCTGAGCACC	0.488000													3	86					0	0	0.000602	0	0
KMT2A	4297	broad.mit.edu	37	11	118375349	118375349	+	Silent	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:118375349C>A	ENST00000534358.1	+	27	8765	c.8742C>A	c.(8740-8742)gtC>gtA	p.V2914V	KMT2A_ENST00000389506.5_Silent_p.V2911V|KMT2A_ENST00000354520.4_Silent_p.V2873V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ATAGTAGTGTCTCTTCCTCTA	0.478000													39	117					2.54651e-27	3.16241e-27	0.006999	1	0
IRAK3	11213	broad.mit.edu	37	12	66639014	66639014	+	Missense_Mutation	SNP	G	G	A	rs140671957		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:66639014G>A	ENST00000261233.4	+	11	1707	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.R368Q	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	429	Protein kinase.		R -> Q (may be associated with ASRT5).		interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCTGCAACGCGGGCAAAGTTA	0.438000													31	87					0	0	0.004878	0	0
NLRP14	338323	broad.mit.edu	37	11	7064378	7064378	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:7064378C>A	ENST00000299481.4	+	4	1467	c.1121C>A	c.(1120-1122)gCc>gAc	p.A374D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	374	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGTGCTGGGCCGCTTGTACT	0.453000													38	109					3.21399e-22	3.97285e-22	0.004878	1	0
ERVFRD-1	405754	broad.mit.edu	37	6	11105000	11105000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:11105000G>A	ENST00000472091.1	-	2	919	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.Q182*	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		182						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						AAAGTTCCCTGAGGAAAAGTA	0.453000													58	176					0	0	0.003610	0	0
PRSS1	5644	broad.mit.edu	37	7	142458409	142458409	+	Missense_Mutation	SNP	C	C	T	rs147886164	by1000genomes	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:142458409C>T	ENST00000486171.1	+	2	61	c.44C>T	c.(43-45)gCt>gTt	p.A15V	PRSS1_ENST00000311737.7_Missense_Mutation_p.A15V			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	15					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACTCCAGTTGCTGCCCCCTTT	0.502000													42	222					0	0	0.002852	0	0
SLC24A2	25769	broad.mit.edu	37	9	19516220	19516220	+	Silent	SNP	G	G	C	rs41270119		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:19516220G>C	ENST00000341998.2	-	10	1978	c.1917C>G	c.(1915-1917)ctC>ctG	p.L639L	SLC24A2_ENST00000286344.3_Silent_p.L622L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	639					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ACACAAAGTAGAGGCCAAACA	0.493000													33	207					0	0	0.002836	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456987	110456987	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:110456987G>C	ENST00000378402.5	+	38	4993	c.4889G>C	c.(4888-4890)aGg>aCg	p.R1630T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1630	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTGGTATCAGGGAAACTGTC	0.413000										HNSCC(38;0.096)			67	293					0	0	0.003610	0	0
UBE2I	7329	broad.mit.edu	37	16	1370539	1370539	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:1370539C>T	ENST00000402301.1	+	5	470	c.434C>T	c.(433-435)cCg>cTg	p.P145L	UBE2I_ENST00000566587.1_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000325437.5_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000403747.2_Intron			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	0					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GCCCTGGCCCCGCTGGTGGCA	0.582000													5	50					0	0	0.000602	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336360	39336360	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:39336360T>C	ENST00000221419.5	-	4	1006	c.640A>G	c.(640-642)Atc>Gtc	p.I214V	HNRNPL_ENST00000600873.1_Missense_Mutation_p.I81V	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	214	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGATTACAGATAGTGTAAAGA	0.478000													13	44					0	0	0.001855	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658432	46658432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:46658432G>A	ENST00000253255.5	-	1	787	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	263	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGCGGGCACGGAGAACACCTG	0.667000													9	63					0	0	0.006214	0	0
ZNF616	90317	broad.mit.edu	37	19	52619980	52619980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:52619980G>T	ENST00000600228.1	-	4	698	c.437C>A	c.(436-438)tCa>tAa	p.S146*	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGCCAGACGTGACTCAAAGTT	0.383000													35	122					9.04072e-19	1.10728e-18	0.003271	1	0
CABIN1	23523	broad.mit.edu	37	22	24432587	24432587	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:24432587A>G	ENST00000398319.2	+	3	439	c.54A>G	c.(52-54)gaA>gaG	p.E18E	CABIN1_ENST00000263119.5_Silent_p.E18E|CABIN1_ENST00000405822.2_Silent_p.E18E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	18					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGATCATGAAGGAAGCTTTA	0.453000													76	174					0	0	0.003610	0	0
ART3	419	broad.mit.edu	37	4	77033553	77033553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:77033553C>T	ENST00000355810.4	+	12	1170	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	ART3_ENST00000349321.3_Missense_Mutation_p.P340S|ART3_ENST00000341029.5_Missense_Mutation_p.P329S	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	351					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTCCAGTTCCTGTTCCAGG	0.403000													22	72					0	0	0.001882	0	0
ZAR1	326340	broad.mit.edu	37	4	48496198	48496198	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:48496198C>T	ENST00000327939.4	+	4	1252	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	404					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						AAGATTTGTGCGGTAGATGCA	0.478000													14	62					0	0	0.002450	0	0
PLEC	5339	broad.mit.edu	37	8	144993792	144993792	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:144993792C>T	ENST00000322810.4	-	32	10777	c.10608G>A	c.(10606-10608)gtG>gtA	p.V3536V	PLEC_ENST00000354589.3_Silent_p.V3399V|PLEC_ENST00000436759.2_Silent_p.V3426V|PLEC_ENST00000398774.2_Silent_p.V3367V|PLEC_ENST00000354958.2_Silent_p.V3377V|PLEC_ENST00000345136.3_Silent_p.V3399V|PLEC_ENST00000356346.3_Silent_p.V3385V|PLEC_ENST00000527096.1_Silent_p.V3422V|PLEC_ENST00000357649.2_Silent_p.V3403V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3536	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCACGGGGTCCACCAGGAAGC	0.692000													10	26					0	0	0.008291	0	0
ANKRD17	26057	broad.mit.edu	37	4	74007554	74007554	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:74007554G>C	ENST00000358602.4	-	14	2352	c.2236C>G	c.(2236-2238)Cgt>Ggt	p.R746G	ANKRD17_ENST00000509867.2_Missense_Mutation_p.R633G|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R746G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	746					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTGGTACACGAGGAGCCTAA	0.418000													7	27					0	0	0.001984	0	0
FNDC3B	64778	broad.mit.edu	37	3	172070689	172070689	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:172070689G>C	ENST00000336824.4	+	22	2710	c.2611G>C	c.(2611-2613)Gag>Cag	p.E871Q	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E871Q|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E871Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	871	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTGTGTCCTGGAGGAGGAGCC	0.567000													26	68					0	0	0.006320	0	0
SORL1	6653	broad.mit.edu	37	11	121348887	121348887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:121348887G>A	ENST00000260197.7	+	3	592	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	155					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTTAAACTTTGGCTTGGGAAA	0.453000													13	41					0	0	0.001368	0	0
HEPH	9843	broad.mit.edu	37	X	65392280	65392280	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:65392280A>T	ENST00000519389.1	+	3	592	c.413A>T	c.(412-414)gAc>gTc	p.D138V	HEPH_ENST00000374727.3_Missense_Mutation_p.D87V|HEPH_ENST00000419594.1_Missense_Mutation_p.D87V|HEPH_ENST00000343002.2_Missense_Mutation_p.D84V|HEPH_ENST00000441993.2_Missense_Mutation_p.D87V|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	84	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TACAAGGATGACTCATACACA	0.478000													13	41					0	0	0.001368	0	0
IGSF3	3321	broad.mit.edu	37	1	117158883	117158883	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:117158883G>A	ENST00000369486.3	-	3	1005	c.240C>T	c.(238-240)ccC>ccT	p.P80P	IGSF3_ENST00000369483.1_Silent_p.P80P|IGSF3_ENST00000318837.6_Silent_p.P80P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	80	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGATGGCATAGGGGAAGGAAG	0.557000													6	41					0	0	0.001168	0	0
AADAC	13	broad.mit.edu	37	3	151532078	151532078	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:151532078T>C	ENST00000232892.6	+	1	254	c.128T>C	c.(127-129)aTa>aCa	p.I43T	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.I43T	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	43					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGAAAACTATACAAAATTTG	0.348000													3	21					0	0	0.004672	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834543	101834543	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:101834543G>A	ENST00000506729.1	-	1	177	c.6C>T	c.(4-6)ttC>ttT	p.F2F	SLCO6A1_ENST00000513675.1_Silent_p.F2F|SLCO6A1_ENST00000379810.1_Silent_p.F2F|SLCO6A1_ENST00000389019.3_Silent_p.F2F|SLCO6A1_ENST00000379807.3_Silent_p.F2F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	2						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGACGCCTACGAACATGGCTC	0.711000													31	140					0	0	0.003271	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497609	1497609	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:1497609G>A	ENST00000421627.2	+	2	884	c.750G>A	c.(748-750)gcG>gcA	p.A250A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	329					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCCCGACGCGCTGCAGAGCC	0.677000													36	65					0	0	0.004878	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921797	130921797	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:130921797C>T	ENST00000261655.4	-	10	1808	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.V457M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V457M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	549	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACAAGCTCCACGGCCGTGCTG	0.692000													5	4					0	0	0.001168	0	0
MARK1	4139	broad.mit.edu	37	1	220804398	220804398	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:220804398A>T	ENST00000402574.1	+	10	1528	c.526A>T	c.(526-528)Atg>Ttg	p.M176L	MARK1_ENST00000366917.4_Missense_Mutation_p.M311L|MARK1_ENST00000366918.4_Missense_Mutation_p.M289L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	311	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGATCGATGGATGAATGTTGG	0.338000													7	22					0	0	0.004482	0	0
TECTA	7007	broad.mit.edu	37	11	120998603	120998603	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:120998603C>T	ENST00000392793.1	+	9	2188	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	TECTA_ENST00000264037.2_Silent_p.L639L			O75443	TECTA_HUMAN	tectorin alpha	639	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTTCGTCCTCAGCACCAGCC	0.657000													22	69					0	0	0.001882	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821425	203821425	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:203821425A>G	ENST00000545588.1	+	17	6158	c.2331A>G	c.(2329-2331)atA>atG	p.I777M	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777M	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAACTAATATGGGAGATTT	0.468000													17	42					0	0	0.006122	0	0
FAT1	2195	broad.mit.edu	37	4	187525003	187525003	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:187525003G>C	ENST00000441802.2	-	19	10886	c.10677C>G	c.(10675-10677)taC>taG	p.Y3559*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3559	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGCCACCTGAGTATTCTTCTC	0.468000										HNSCC(5;0.00058)			15	23					0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141081531	141081531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:141081531C>A	ENST00000389484.3	-	81	13416	c.12445G>T	c.(12445-12447)Gag>Tag	p.E4149*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4149					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4149*(1)		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)		GCTAAGTACTCTACTGAACCA	0.289000										TSP Lung(27;0.18)			21	55					7.45023e-12	8.96041e-12	0.001523	1	0
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr21:11058330G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378000													11	141					0	0	0.001368	0	0
SF3B1	23451	broad.mit.edu	37	2	198285204	198285204	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:198285204C>T	ENST00000335508.5	-	4	454	c.363G>A	c.(361-363)aaG>aaA	p.K121K	SF3B1_ENST00000409915.4_Silent_p.K121K|SF3B1_ENST00000414963.2_Silent_p.K121K|SF3B1_ENST00000487698.1_Silent_p.K121K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	121					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCGCCTATGCTTTTTGTATT	0.373000			Mis		myelodysplastic syndrome								23	49					0	0	0.003330	0	0
ROS1	6098	broad.mit.edu	37	6	117710592	117710592	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:117710592G>A	ENST00000368508.3	-	12	1878	c.1680C>T	c.(1678-1680)cgC>cgT	p.R560R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.R569R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	560	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTCCTGCGGGCGGCCTGGCA	0.552000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								26	83					0	0	0.003954	0	0
NLRP4	147945	broad.mit.edu	37	19	56388492	56388492	+	Missense_Mutation	SNP	C	C	T	rs147716168		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:56388492C>T	ENST00000301295.6	+	8	3078	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	NLRP4_ENST00000346986.5_Missense_Mutation_p.R830W|NLRP4_ENST00000587891.1_Missense_Mutation_p.R811W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	886							ATP binding	p.R886W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGTTGTGTCGGGCTCTGAC	0.498000													38	108					0	0	0.005524	0	0
BTAF1	9044	broad.mit.edu	37	10	93740247	93740247	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:93740247A>T	ENST00000265990.6	+	15	1995	c.1687A>T	c.(1687-1689)Atg>Ttg	p.M563L	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	563					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTGCCTGATATGCTCCGACA	0.373000													11	45					0	0	0.001855	0	0
FRAS1	80144	broad.mit.edu	37	4	79455676	79455676	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:79455676C>G	ENST00000264895.6	+	71	11439	c.10999C>G	c.(10999-11001)Cag>Gag	p.Q3667E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3662					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTGAATTTCAGCTCTGCAA	0.418000													42	115					0	0	0.002222	0	0
HIPK1	204851	broad.mit.edu	37	1	114499830	114499830	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:114499830C>T	ENST00000369558.1	+	7	1909	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	HIPK1_ENST00000426820.2_Silent_p.F559F|HIPK1_ENST00000340480.4_Silent_p.F185F|HIPK1_ENST00000369559.4_Silent_p.F559F|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000406344.1_Silent_p.F165F|HIPK1_ENST00000369554.2_Silent_p.F559F|HIPK1_ENST00000369553.1_Silent_p.F165F|HIPK1_ENST00000369555.2_Silent_p.F559F			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGTCCCTTCACTACACATG	0.393000													12	43					0	0	0.001368	0	0
SLC6A16	28968	broad.mit.edu	37	19	49813315	49813315	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:49813315T>A	ENST00000454748.3	-	4	883	c.682A>T	c.(682-684)Atg>Ttg	p.M228L	SLC6A16_ENST00000335875.4_Missense_Mutation_p.M228L			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	228						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTAGAGTTCATCGTTAAGGGA	0.468000													28	61					0	0	0.008361	0	0
TANGO6	79613	broad.mit.edu	37	16	68893913	68893913	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:68893913G>C	ENST00000261778.1	+	2	233	c.221G>C	c.(220-222)aGa>aCa	p.R74T		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		AAACTCCTAAGAGATGAAATT	0.403000													6	51					0	0	0.001168	0	0
SARDH	1757	broad.mit.edu	37	9	136582547	136582547	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:136582547C>A	ENST00000371872.4	-	8	1308	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	SARDH_ENST00000422262.2_Missense_Mutation_p.D183Y|SARDH_ENST00000439388.1_Missense_Mutation_p.D351Y	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	351					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGTCCAGGTCAAAGAGGCCG	0.597000													10	43					2.80697e-09	3.3162e-09	0.000978	1	0
DLG5	9231	broad.mit.edu	37	10	79576322	79576322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:79576322G>A	ENST00000372391.2	-	20	4017	c.4012C>T	c.(4012-4014)Cgg>Tgg	p.R1338W	DLG5_ENST00000372388.2_Missense_Mutation_p.R998W|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1338					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCTTTCTCCGCTCCCCGAGG	0.637000													10	64					0	0	0.008291	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:39261731G>C	ENST00000391415.1	+	1	148	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.E31Q(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CAGCTGCTGTGAGACCACCTG	0.637000													3	69					0	0	0.000602	0	0
USP8	9101	broad.mit.edu	37	15	50769638	50769638	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:50769638C>G	ENST00000433963.1	+	11	1660	c.1160C>G	c.(1159-1161)tCt>tGt	p.S387C	USP8_ENST00000307179.4_Missense_Mutation_p.S387C|USP8_ENST00000425032.3_Missense_Mutation_p.S310C|USP8_ENST00000396444.3_Missense_Mutation_p.S387C	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	387					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GTTGCTGCTTCTAAATCTGAT	0.343000													23	43					0	0	0.006320	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768159	77768159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:77768159G>A	ENST00000521891.2	+	10	9450	c.9002G>A	c.(9001-9003)gGa>gAa	p.G3001E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2956E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2956E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2975E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2956						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCAAGGCGGAACGGAAGGC	0.463000										HNSCC(33;0.089)			9	30					0	0	0.006214	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88961250	88961250	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:88961250C>G	ENST00000375961.2	-	3	880	c.666G>C	c.(664-666)gaG>gaC	p.E222D	ZCCHC6_ENST00000375947.1_Missense_Mutation_p.E55D|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E222D|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E222D|ZCCHC6_ENST00000277141.6_5'UTR			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	222					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTCAGTCTCTCCTCAGCCT	0.423000													30	134					0	0	0.007291	0	0
SP8	221833	broad.mit.edu	37	7	20824320	20824320	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:20824320G>A	ENST00000361443.4	-	3	1299	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	SP8_ENST00000418710.2_Silent_p.G372G	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCTGTGCAGGCCCTTGCGCC	0.721000													8	20					0	0	0.003080	0	0
SELRC1	65260	broad.mit.edu	37	1	53158471	53158471	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:53158471T>C	ENST00000371538.3	-	2	214	c.175A>G	c.(175-177)Aag>Gag	p.K59E	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	59							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CAGTTAAACTTCAACACCTTG	0.498000													22	67					0	0	0.001523	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058842	79058842	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:79058842G>A	ENST00000388820.4	-	19	3621	c.3411C>T	c.(3409-3411)gcC>gcT	p.A1137A		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1137					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGGAGCGGCCGGCCTGGCTAG	0.677000													3	15					0	0	0.000602	0	0
FAM84B	157638	broad.mit.edu	37	8	127569307	127569307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:127569307C>A	ENST00000304916.3	-	2	783	c.328G>T	c.(328-330)Gag>Tag	p.E110*	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	110						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			AGCAGGTTCTCGGGCGTGTAG	0.617000													25	25					3.08376e-08	3.61125e-08	0.003330	1	0
TTLL6	284076	broad.mit.edu	37	17	46862375	46862375	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:46862375G>A	ENST00000393382.3	-	13	2091	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	TTLL6_ENST00000433608.2_Silent_p.L343L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	602						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCGAGCTGCTGAGATTGATAT	0.537000													72	121					0	0	0.003610	0	0
SUGP2	10147	broad.mit.edu	37	19	19112448	19112448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:19112448G>A	ENST00000601879.1	-	8	3262	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	SUGP2_ENST00000452918.2_Missense_Mutation_p.R989W|SUGP2_ENST00000600377.1_Missense_Mutation_p.R1003W|SUGP2_ENST00000337018.6_Missense_Mutation_p.R989W|SUGP2_ENST00000456085.2_Missense_Mutation_p.R758W			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	989					mRNA processing|RNA splicing	nucleus	RNA binding	p.R989W(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGACGACCCCGAGGCCTGTCA	0.423000													11	62					0	0	0.001855	0	0
IL13RA2	3598	broad.mit.edu	37	X	114238663	114238663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:114238663C>T	ENST00000371936.1	-	11	1372	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E375K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	375						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.E375K(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CAGAAAAATTCTGGAATCTAG	0.333000													6	16					0	0	0.003080	0	0
EMP3	2014	broad.mit.edu	37	19	48830823	48830823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:48830823G>A	ENST00000270221.6	+	3	425	c.124G>A	c.(124-126)Gac>Aac	p.D42N	EMP3_ENST00000597279.1_Missense_Mutation_p.D42N|EMP3_ENST00000596315.1_5'UTR	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	42					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TCTCTGGTACGACTGCACGTG	0.562000													7	32					0	0	0.004482	0	0
PEG3	5178	broad.mit.edu	37	19	57325894	57325894	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:57325894T>G	ENST00000326441.9	-	10	4279	c.3916A>C	c.(3916-3918)Aat>Cat	p.N1306H	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N1306H|PEG3_ENST00000593695.1_Missense_Mutation_p.N1180H|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N1182H|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1306					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1306H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGGGCTCATTCTTATGAACA	0.448000													18	52					0	0	0.008871	0	0
RNF220	55182	broad.mit.edu	37	1	44878151	44878151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:44878151G>A	ENST00000355387.2	+	2	832	c.382G>A	c.(382-384)Gac>Aac	p.D128N	RNF220_ENST00000372247.2_Missense_Mutation_p.D128N|RNF220_ENST00000361799.2_Missense_Mutation_p.D128N			Q5VTB9	RN220_HUMAN	ring finger protein 220	128					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTCCACCGAGGACCGGGAGAG	0.552000													25	95					0	0	0.003954	0	0
SASS6	163786	broad.mit.edu	37	1	100591488	100591488	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:100591488T>C	ENST00000287482.5	-	2	216	c.76A>G	c.(76-78)Ata>Gta	p.I26V	SASS6_ENST00000535161.1_5'UTR|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	26					centriole replication	centriole		p.I26V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTCATTCTTATACTTACTCTC	0.333000													22	58					0	0	0.003954	0	0
C4orf33	132321	broad.mit.edu	37	4	130023943	130023943	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:130023943G>A	ENST00000281146.4	+	2	899	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	C4orf33_ENST00000502887.1_Missense_Mutation_p.E60K|C4orf33_ENST00000425929.1_Missense_Mutation_p.E60K	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	60								p.E60K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGGGATTATGAAGGTAAGTG	0.388000													23	74					0	0	0.003330	0	0
FAM47C	442444	broad.mit.edu	37	X	37027222	37027222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:37027222C>T	ENST00000358047.3	+	1	791	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	247										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.627000													18	66					0	0	0.007413	0	0
BAG5	9529	broad.mit.edu	37	14	104028278	104028278	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:104028278T>C	ENST00000337322.4	-	1	357	c.67A>G	c.(67-69)Att>Gtt	p.I23V	BAG5_ENST00000299204.4_Intron|BAG5_ENST00000445922.2_Intron	NM_001015049.2	NP_001015049.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	0	BAG 1.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AATGGCCTAATGCACGTTTCA	0.493000													5	46					0	0	0.000602	0	0
TBX22	50945	broad.mit.edu	37	X	79283536	79283536	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:79283536T>C	ENST00000442340.1	+	8	1040	c.550T>C	c.(550-552)Ttc>Ctc	p.F184L	TBX22_ENST00000373296.3_Missense_Mutation_p.F304L|TBX22_ENST00000373294.5_Missense_Mutation_p.F304L|TBX22_ENST00000373291.1_Missense_Mutation_p.F184L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	304					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAGGCCTTCTTTCACTCTCGA	0.368000													13	56					0	0	0.001855	0	0
INPP5D	3635	broad.mit.edu	37	2	233925301	233925301	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:233925301G>A	ENST00000359570.5	+	1	113	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	INPP5D_ENST00000538935.1_Missense_Mutation_p.R38Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	38	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCATCTCCCGGGCATACGCG	0.617000													15	57					0	0	0.006122	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397422	5397422	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:5397422T>C	ENST00000341928.2	-	18	2816	c.2476A>G	c.(2476-2478)Atg>Gtg	p.M826V	EPB41L3_ENST00000542146.1_Missense_Mutation_p.M131V|EPB41L3_ENST00000427684.2_Missense_Mutation_p.M123V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.M657V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.M604V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.M604V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.M826V|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	826	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTGGTTTCCATTTTCTGCATG	0.517000													32	82					0	0	0.004289	0	0
PTK7	5754	broad.mit.edu	37	6	43096755	43096755	+	Silent	SNP	C	C	T	rs140431672		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:43096755C>T	ENST00000230419.4	+	2	341	c.120C>T	c.(118-120)tcC>tcT	p.S40S	PTK7_ENST00000352931.2_Silent_p.S40S|PTK7_ENST00000349241.2_Silent_p.S40S|PTK7_ENST00000345201.2_Silent_p.S40S|PTK7_ENST00000481273.1_Silent_p.S48S|PTK7_ENST00000476760.1_Silent_p.S40S|PTK7_ENST00000471863.1_Silent_p.S40S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	40	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCCGTCCTCCCAGGATGCAC	0.637000													11	50					0	0	0.001368	0	0
ITLN1	55600	broad.mit.edu	37	1	160850996	160850996	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:160850996G>T	ENST00000326245.3	-	5	627	c.512C>A	c.(511-513)aCg>aAg	p.T171K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	171	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	p.T171K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCAGTGTCCGTGCGGTACCT	0.562000													30	92					1.30897e-18	1.59587e-18	0.001786	1	0
WIPF2	147179	broad.mit.edu	37	17	38433351	38433351	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:38433351G>C	ENST00000323571.4	+	7	1437	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N	WIPF2_ENST00000394103.3_Missense_Mutation_p.K141N|WIPF2_ENST00000585043.1_Missense_Mutation_p.K399N|WIPF2_ENST00000583130.1_Missense_Mutation_p.K399N|WIPF2_ENST00000536600.1_Missense_Mutation_p.K141N|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	399						cytoplasm|cytoskeleton	actin binding	p.K399N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TTGAGTCAAAGTATTCCTTCC	0.413000										HNSCC(43;0.11)			20	78					0	0	0.008871	0	0
C12orf74	338809	broad.mit.edu	37	12	93100819	93100819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:93100819C>T	ENST00000544406.2	+	2	678	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	C12orf74_ENST00000397833.3_Nonsense_Mutation_p.Q138*			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	138										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TCCTGAGCTTCAGCCTGTCAA	0.582000													12	50					0	0	0.001368	0	0
CCNE2	9134	broad.mit.edu	37	8	95894373	95894373	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:95894373T>C	ENST00000520509.1	-	11	1340	c.1088A>G	c.(1087-1089)tAt>tGt	p.Y363C	CCNE2_ENST00000308108.4_Missense_Mutation_p.Y363C|CCNE2_ENST00000396133.3_Missense_Mutation_p.Y363C			O96020	CCNE2_HUMAN	cyclin E2	363					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CATAGCCAAATAGTTTGTATG	0.363000													21	76					0	0	0.004656	0	0
VPS16	64601	broad.mit.edu	37	20	2844895	2844895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr20:2844895C>T	ENST00000380445.3	+	17	1754	c.1682C>T	c.(1681-1683)gCa>gTa	p.A561V	PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.A247V|VPS16_ENST00000380469.3_Missense_Mutation_p.A417V	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	561					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCAAACTGGCACTAAGCAAG	0.602000													14	41					0	0	0.001855	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													5	70					0	0	0.001984	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619477	15619477	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:15619477G>T	ENST00000464847.2	+	5	992	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.V137F|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.V147F|ZNF286A_ENST00000583566.1_Missense_Mutation_p.V147F|ZNF286A_ENST00000421016.1_Missense_Mutation_p.V147F|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		ACGGAATAGTGTCTATGACTC	0.403000													19	20					3.62473e-10	4.30135e-10	0.001882	1	0
LRP1B	53353	broad.mit.edu	37	2	141625821	141625821	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:141625821C>G	ENST00000389484.3	-	26	5152	c.4181G>C	c.(4180-4182)tGg>tCg	p.W1394S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1394					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)		CCAGTCTGTCCAGAAAAGAAT	0.358000										TSP Lung(27;0.18)			9	33					0	0	0.006214	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681438	44681438	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr22:44681438G>A	ENST00000381176.4	-	4	601	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	157						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGACCCGGCCGAGGGGCCCGA	0.697000													21	67					0	0	0.008871	0	0
VARS	7407	broad.mit.edu	37	6	31752260	31752260	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr6:31752260G>A	ENST00000375663.3	-	12	1927	c.1487C>T	c.(1486-1488)aCa>aTa	p.T496I	VARS_ENST00000444930.2_Missense_Mutation_p.T201I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	496					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.T496I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTGCGACCTGTCAGCTCCTT	0.587000													23	60					0	0	0.002299	0	0
ZNF345	25850	broad.mit.edu	37	19	37368294	37368294	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:37368294G>A	ENST00000529555.1	+	2	1350	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ZNF345_ENST00000589046.1_Missense_Mutation_p.A188T|ZNF345_ENST00000420450.1_Missense_Mutation_p.A188T|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	188					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTGAATCAGCCCTTATTCG	0.413000													22	41					0	0	0.001523	0	0
OFD1	8481	broad.mit.edu	37	X	13769430	13769430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:13769430A>G	ENST00000380567.1	+	11	1450	c.578A>G	c.(577-579)cAg>cGg	p.Q193R	OFD1_ENST00000340096.6_Missense_Mutation_p.Q333R|OFD1_ENST00000380550.3_Intron|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Missense_Mutation_p.Q333R			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	333					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGACAGGAGCAGAATATAAAG	0.303000													24	48					0	0	0.003954	0	0
HOOK1	51361	broad.mit.edu	37	1	60309235	60309235	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:60309235A>G	ENST00000371208.3	+	9	1010	c.753A>G	c.(751-753)caA>caG	p.Q251Q	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.Q209Q	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	251	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCATGCACAATTACAACTAG	0.333000													14	31					0	0	0.004990	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658434	46658434	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr22:46658434G>A	ENST00000253255.5	-	1	785	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	262	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGGGCACGGAGAACACCTGCC	0.677000													9	60					0	0	0.006214	0	0
CLDN11	5010	broad.mit.edu	37	3	170150427	170150427	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:170150427C>T	ENST00000064724.3	+	3	709	c.507C>T	c.(505-507)ctC>ctT	p.L169L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	169					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGCTGTGCCTCGTGGGTGGCT	0.592000													31	131					0	0	0.001786	0	0
TBL1X	6907	broad.mit.edu	37	X	9652149	9652149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:9652149C>T	ENST00000217964.7	+	6	918	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TBL1X_ENST00000424279.1_Missense_Mutation_p.T42M|TBL1X_ENST00000536365.1_Missense_Mutation_p.T42M|TBL1X_ENST00000380961.1_Missense_Mutation_p.T42M|TBL1X_ENST00000407597.2_Missense_Mutation_p.T93M	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	93	F-box-like.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				ATCAATGGGACGCTAGTGCCA	0.567000													16	60					0	0	0.006122	0	0
RNGTT	8732	broad.mit.edu	37	6	89650812	89650812	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr6:89650812G>C	ENST00000369485.4	-	2	338	c.152C>G	c.(151-153)tCa>tGa	p.S51*	RNGTT_ENST00000265607.6_Nonsense_Mutation_p.S51*|RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000369475.3_Nonsense_Mutation_p.S51*	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	51	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S51*(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAGGTAATTTGAGAGCATGCT	0.343000													15	60					0	0	0.003163	0	0
ZFP1	162239	broad.mit.edu	37	16	75204123	75204123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr16:75204123G>A	ENST00000393430.2	+	4	1239	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	ZFP1_ENST00000570010.1_Missense_Mutation_p.R372Q|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.R339Q|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R372Q(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TTACACTTGCGAATCCACACA	0.473000													7	55					0	0	0.001984	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269526	100269526	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr15:100269526G>A	ENST00000545021.1	-	4	1129	c.315C>T	c.(313-315)gtC>gtT	p.V105V	LYSMD4_ENST00000344791.2_Silent_p.V232V|LYSMD4_ENST00000409796.1_Silent_p.V231V|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Silent_p.V231V			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	231					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			AGACAGGCAAGACAATACCAA	0.478000													44	142					0	0	0.003610	0	0
OR52A1	23538	broad.mit.edu	37	11	5173296	5173296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:5173296G>A	ENST00000380367.1	-	2	721	c.304C>T	c.(304-306)Caa>Taa	p.Q102*	OR52A1_ENST00000328942.1_Nonsense_Mutation_p.Q102*			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	102					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCACATTTGAAGCAAGCAG	0.458000													8	23					0	0	0.003080	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													4	19					0	0	0.000248	0	0
CASC5	57082	broad.mit.edu	37	15	40951562	40951562	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr15:40951562G>A	ENST00000346991.5	+	26	7207	c.6817G>A	c.(6817-6819)Gca>Aca	p.A2273T	CASC5_ENST00000399668.2_Missense_Mutation_p.A2247T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2273	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTCTAGCTCCGCAGCATTTGC	0.333000													20	39					0	0	0.008871	0	0
EPC2	26122	broad.mit.edu	37	2	149526743	149526743	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:149526743G>A	ENST00000258484.6	+	8	1198	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	388					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TATCAGAACCGGAAGAAGAAA	0.388000													7	14					0	0	0.004482	0	0
MTBP	27085	broad.mit.edu	37	8	121475947	121475947	+	Silent	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:121475947T>C	ENST00000305949.1	+	10	1038	c.993T>C	c.(991-993)agT>agC	p.S331S		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	331					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGACAAACAGTACCAAACAGA	0.343000													24	136					0	0	0.003330	0	0
CHORDC1	26973	broad.mit.edu	37	11	89944413	89944413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:89944413G>C	ENST00000320585.6	-	5	812	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V	CHORDC1_ENST00000457199.2_Missense_Mutation_p.L116V	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	135	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CCTGATGACAGTTTAAGTTTA	0.303000													18	65					0	0	0.007413	0	0
NUF2	83540	broad.mit.edu	37	1	163325191	163325191	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:163325191G>T	ENST00000271452.3	+	14	1606	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	NUF2_ENST00000367900.3_Missense_Mutation_p.D443Y|NUF2_ENST00000524800.1_Missense_Mutation_p.D396Y	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	443	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GGCAGCAGAGGACTCCTATGC	0.338000													9	25					0.000442599	0.00050033	0.006214	1	0
C5orf24	134553	broad.mit.edu	37	5	134190804	134190804	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr5:134190804A>G	ENST00000394976.3	+	2	442	c.214A>G	c.(214-216)Ata>Gta	p.I72V	C5orf24_ENST00000338051.4_Missense_Mutation_p.I72V|C5orf24_ENST00000435259.2_Missense_Mutation_p.I72V|C5orf24_ENST00000504727.1_Missense_Mutation_p.I72V	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	72										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCAGAAGCATAGAAATAAA	0.453000													28	55					0	0	0.005443	0	0
TAF1	6872	broad.mit.edu	37	X	70612527	70612527	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:70612527T>A	ENST00000449580.1	+	19	2938	c.2887T>A	c.(2887-2889)Ttc>Atc	p.F963I	TAF1_ENST00000276072.3_Missense_Mutation_p.F984I|TAF1_ENST00000373790.4_Missense_Mutation_p.F963I|TAF1_ENST00000423759.1_Missense_Mutation_p.F984I			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	963					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGTGAAGGATTCTCCTATGT	0.488000													17	78					0	0	0.007413	0	0
ZNF222	7673	broad.mit.edu	37	19	44536636	44536636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:44536636C>A	ENST00000187879.8	+	4	971	c.809C>A	c.(808-810)tCa>tAa	p.S270*	ZNF222_ENST00000391960.3_Nonsense_Mutation_p.S310*|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGTCTTAGGTCAAGTCTTAAT	0.393000													34	97					9.04072e-19	1.0933e-18	0.003271	1	0
SGPL1	8879	broad.mit.edu	37	10	72631612	72631612	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr10:72631612A>G	ENST00000373202.3	+	11	1128	c.928A>G	c.(928-930)Ata>Gta	p.I310V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	310					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	CAAATACAAAATACCCCTTCA	0.433000													19	68					0	0	0.001523	0	0
APCS	325	broad.mit.edu	37	1	159558171	159558171	+	Silent	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:159558171G>C	ENST00000255040.2	+	2	442	c.345G>C	c.(343-345)gtG>gtC	p.V115V		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	115	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATCTGTGTGAGCTGGGAGT	0.433000													12	55					0	0	0.000978	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063019	76063019	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:76063019T>A	ENST00000260045.3	-	5	1280	c.1175A>T	c.(1174-1176)cAt>cTt	p.H392L		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	392					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGGTGATCGATGGAAAAAAGA	0.378000													10	36					0	0	0.008291	0	0
HRNR	388697	broad.mit.edu	37	1	152188024	152188024	+	Silent	SNP	C	C	T	rs142170860		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:152188024C>T	ENST00000368801.2	-	3	6156	c.6081G>A	c.(6079-6081)tcG>tcA	p.S2027S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2027					keratinization		calcium ion binding|protein binding	p.S2027S(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.562000													119	901					0	0	0.003610	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688671	111688671	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:111688671C>T	ENST00000431670.2	+	16	3861	c.3450C>T	c.(3448-3450)ctC>ctT	p.L1150L	PHLDB2_ENST00000495180.1_Silent_p.L641L|PHLDB2_ENST00000412622.1_Silent_p.L1107L|PHLDB2_ENST00000393923.3_Silent_p.L1134L|PHLDB2_ENST00000481953.1_Silent_p.L1107L|PHLDB2_ENST00000393925.3_Silent_p.L1150L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1150	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.L1107L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGGATTCCTCATCAAAATGG	0.418000													18	78					0	0	0.004990	0	0
DLG2	1740	broad.mit.edu	37	11	83874509	83874509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:83874509C>T	ENST00000398309.2	-	4	774	c.304G>A	c.(304-306)Gag>Aag	p.E102K	DLG2_ENST00000532653.1_Missense_Mutation_p.E102K|DLG2_ENST00000398301.2_Missense_Mutation_p.E141K|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.E41K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000524982.1_Missense_Mutation_p.E102K|DLG2_ENST00000280241.8_Missense_Mutation_p.E141K|DLG2_ENST00000531015.1_Missense_Mutation_p.E69K|DLG2_ENST00000418306.2_Missense_Mutation_p.E51K|DLG2_ENST00000376104.2_Missense_Mutation_p.E207K|DLG2_ENST00000543673.1_Missense_Mutation_p.E207K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	102	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTACCCTCTCCAGTGTAATT	0.308000													7	26					0	0	0.003080	0	0
HDX	139324	broad.mit.edu	37	X	83724401	83724401	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:83724401T>C	ENST00000297977.5	-	3	441	c.330A>G	c.(328-330)atA>atG	p.I110M	HDX_ENST00000373177.2_Missense_Mutation_p.I110M|HDX_ENST00000506585.2_Missense_Mutation_p.I52M	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	110						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I110M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGACTGTATATACCAGTTA	0.408000													28	89					0	0	0.005443	0	0
MYO16	23026	broad.mit.edu	37	13	109699324	109699324	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr13:109699324C>G	ENST00000356711.2	+	24	2917	c.2791C>G	c.(2791-2793)Cta>Gta	p.L931V	MYO16_ENST00000251041.5_Missense_Mutation_p.L931V|MYO16_ENST00000457511.2_Missense_Mutation_p.L443V|MYO16_ENST00000357550.2_Missense_Mutation_p.L931V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	931	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACAGAATCTTCTATTTGTAAT	0.313000													14	46					0	0	0.004007	0	0
ACO2	50	broad.mit.edu	37	22	41922358	41922358	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr22:41922358C>T	ENST00000396512.3	+	15	1946	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	POLR3H_ENST00000396504.2_3'UTR|ACO2_ENST00000216254.4_Silent_p.L618L|POLR3H_ENST00000355209.4_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	618					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ACAACCTGCTCATTGGTGCCA	0.562000											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	122					0	0	0.000248	0	0
OR11L1	391189	broad.mit.edu	37	1	248004352	248004352	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:248004352G>T	ENST00000355784.2	-	1	902	c.847C>A	c.(847-849)Cca>Aca	p.P283T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCAGCAGTGGTGTGACCACA	0.443000													17	58					1.02788e-11	1.20927e-11	0.004990	1	0
CTTN	2017	broad.mit.edu	37	11	70263146	70263146	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:70263146A>G	ENST00000346329.3	+	8	793	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	CTTN_ENST00000376561.3_Missense_Mutation_p.Y162C|CTTN_ENST00000301843.8_Missense_Mutation_p.Y162C	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	162						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGCGGCAAGTATGGCGTGCAG	0.582000													26	93					0	0	0.006320	0	0
IGSF1	3547	broad.mit.edu	37	X	130415220	130415220	+	Silent	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:130415220T>G	ENST00000370904.1	-	15	2501	c.1591A>C	c.(1591-1593)Agg>Cgg	p.R531R	IGSF1_ENST00000370903.3_Silent_p.R540R|IGSF1_ENST00000361420.3_Silent_p.R540R|IGSF1_ENST00000370910.1_Silent_p.R531R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	540					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACTTCCACCTTATCCACAGC	0.493000													78	215					0	0	0.003610	0	0
NAV2	89797	broad.mit.edu	37	11	20136232	20136232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:20136232C>T	ENST00000396085.1	+	38	7425	c.7064C>T	c.(7063-7065)cCc>cTc	p.P2355L	NAV2_ENST00000533917.1_Missense_Mutation_p.P1416L|NAV2_ENST00000527559.2_Missense_Mutation_p.P2340L|NAV2_ENST00000349880.4_Missense_Mutation_p.P2352L|NAV2_ENST00000540292.1_Missense_Mutation_p.P2342L|NAV2_ENST00000396087.3_Missense_Mutation_p.P2411L|NAV2_ENST00000311043.8_Missense_Mutation_p.P1416L|NAV2_ENST00000360655.4_Missense_Mutation_p.P2288L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2411						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGTGGCCTCCCCTGCTGCAG	0.612000													13	24					0	0	0.001855	0	0
TCEAL7	56849	broad.mit.edu	37	X	102586386	102586386	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:102586386A>T	ENST00000332431.4	+	3	309	c.55A>T	c.(55-57)Agg>Tgg	p.R19W	TCEAL7_ENST00000372666.1_Missense_Mutation_p.R19W	NM_152278.3	NP_689491.1	Q9BRU2	TCAL7_HUMAN	transcription elongation factor A (SII)-like 7	19					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R19W(1)		endometrium(1)|upper_aerodigestive_tract(1)	2						cgtgccaaagagggaggaaaa	0.433000													3	8					0	0	0.004672	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555158	44555158	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr18:44555158G>A	ENST00000330682.2	-	1	1291	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	352	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.L352L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCACGTCGCCGAGGGCGTCCG	0.652000													11	1102					0	0	0.004482	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	59					0	0	0.001368	0	0
MALAT1	378938	broad.mit.edu	37	11	65266549	65266549	+	RNA	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:65266549T>C	ENST00000534336.1	+	0	1317					NR_002819.2																						GGGCTTCTGCTGAGGGGGCAG	0.478000													21	71					0	0	0.001882	0	0
MCF2	4168	broad.mit.edu	37	X	138686866	138686866	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:138686866T>A	ENST00000520602.1	-	18	2182	c.1897A>T	c.(1897-1899)Aga>Tga	p.R633*	MCF2_ENST00000338585.6_Nonsense_Mutation_p.R589*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.R633*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.R649*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.R534*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.R573*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.R573*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.R718*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	573	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCACTCTTTCTGGAGCA	0.308000													8	14					0	0	0.004482	0	0
AFF4	27125	broad.mit.edu	37	5	132222032	132222032	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr5:132222032C>T	ENST00000265343.5	-	18	3448	c.3069G>A	c.(3067-3069)aaG>aaA	p.K1023K		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1023					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTTGAGTACTTCAGAGCAT	0.473000													38	82					0	0	0.005524	0	0
C2CD3	26005	broad.mit.edu	37	11	73803532	73803532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:73803532C>T	ENST00000334126.7	-	19	3672	c.3446G>A	c.(3445-3447)gGa>gAa	p.G1149E	C2CD3_ENST00000313663.7_Missense_Mutation_p.G1149E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1149						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTCTGTATTCCCACATCCTC	0.423000													9	49					0	0	0.006214	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	66					0	0	0.000602	0	0
PGAP1	80055	broad.mit.edu	37	2	197738421	197738421	+	Silent	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:197738421C>G	ENST00000354764.3	-	15	1602	c.1488G>C	c.(1486-1488)ctG>ctC	p.L496L	PGAP1_ENST00000409475.1_Silent_p.L496L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	496					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTCCAAAGTTCAGAAGCTCTA	0.294000													15	48					0	0	0.004990	0	0
DSG3	1830	broad.mit.edu	37	18	29055986	29055986	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr18:29055986C>T	ENST00000257189.4	+	16	2846	c.2763C>T	c.(2761-2763)tcC>tcT	p.S921S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	921					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTGTTTCCATCCCTGACC	0.507000													22	70					0	0	0.001523	0	0
GFAP	2670	broad.mit.edu	37	17	42992693	42992693	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr17:42992693C>T	ENST00000253408.5	-	1	227	c.162G>A	c.(160-162)ctG>ctA	p.L54L	GFAP_ENST00000586793.1_Silent_p.L54L|GFAP_ENST00000435360.2_Silent_p.L54L|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	54	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTGCCCCAGCCAGGGAGAAAT	0.657000													18	40					0	0	0.004990	0	0
ZEB2	9839	broad.mit.edu	37	2	145156648	145156648	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:145156648A>G	ENST00000558170.2	-	8	3290	c.2106T>C	c.(2104-2106)aaT>aaC	p.N702N	ZEB2_ENST00000409487.3_Silent_p.N702N|ZEB2_ENST00000303660.4_Silent_p.N702N|ZEB2_ENST00000539609.3_Silent_p.N678N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	702						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGACCTGGAATTTGAGTACT	0.463000													48	155					0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65393633	65393633	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:65393633C>T	ENST00000519389.1	+	4	956	c.777C>T	c.(775-777)acC>acT	p.T259T	HEPH_ENST00000343002.2_Silent_p.T205T|HEPH_ENST00000419594.1_Silent_p.T208T|HEPH_ENST00000441993.2_Silent_p.T208T|HEPH_ENST00000374727.3_Silent_p.T208T|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	205	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTCATCACCTGTAAAAGAG	0.498000													5	13					0	0	0.000602	0	0
SV2B	9899	broad.mit.edu	37	15	91835756	91835756	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr15:91835756G>C	ENST00000394232.1	+	13	2496	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	SV2B_ENST00000545111.2_Missense_Mutation_p.E525Q|SV2B_ENST00000330276.4_Missense_Mutation_p.E676Q	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	676					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.E676Q(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCGACTGCCAGAGACTCGAGA	0.507000													31	82					0	0	0.002836	0	0
PSMD1	5707	broad.mit.edu	37	2	231944262	231944262	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:231944262A>G	ENST00000308696.6	+	11	1335	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E	PSMD1_ENST00000409643.1_Silent_p.E391E|PSMD1_ENST00000373635.4_Silent_p.E391E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	391					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATAATTTGGAATGGTTAGCCA	0.313000													6	21					0	0	0.004482	0	0
IPMK	253430	broad.mit.edu	37	10	59976032	59976032	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr10:59976032G>A	ENST00000373935.3	-	4	742	c.420C>T	c.(418-420)ccC>ccT	p.P140P		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	140	Substrate binding (By similarity).					nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCATTATACAGGGCTTATTAA	0.328000													9	38					0	0	0.004482	0	0
STC1	6781	broad.mit.edu	37	8	23709899	23709899	+	Splice_Site	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:23709899T>A	ENST00000290271.2	-	2	402		c.e2-2		STC1_ENST00000524323.1_Splice_Site	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1						cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.?(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCACTTCAGCTGAAAGAGACA	0.507000													19	34					0	0	0.001523	0	0
KIF9	64147	broad.mit.edu	37	3	47284589	47284589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:47284589A>G	ENST00000335044.2	-	16	2018	c.1661T>C	c.(1660-1662)aTt>aCt	p.I554T	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000265529.3_Missense_Mutation_p.I554T|KIF9_ENST00000452770.2_Missense_Mutation_p.I554T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Intron	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	554					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGGGGCTCAATGCTGGAAGT	0.498000													16	41					0	0	0.006122	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130764620	130764620	+	Silent	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr5:130764620C>G	ENST00000509018.1	-	27	4960	c.4755G>C	c.(4753-4755)gtG>gtC	p.V1585V	RAPGEF6_ENST00000307984.5_Intron|FNIP1_ENST00000514667.1_Silent_p.V1635V|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000296859.6_Silent_p.V1593V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1585					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTGCATCAGTCACATCTCCTA	0.418000													22	74					0	0	0.002780	0	0
IKZF5	64376	broad.mit.edu	37	10	124758050	124758050	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr10:124758050C>G	ENST00000368886.5	-	3	412	c.92G>C	c.(91-93)gGa>gCa	p.G31A	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		ACTAACTGATCCAGAAATCAT	0.403000													19	61					0	0	0.001523	0	0
ATAD2B	54454	broad.mit.edu	37	2	23977087	23977087	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:23977087G>C	ENST00000238789.5	-	27	4640	c.4297C>G	c.(4297-4299)Cgt>Ggt	p.R1433G	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1433							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACGATGACGGTAGATACAC	0.318000													3	4					0	0	0.004672	0	0
AMHR2	269	broad.mit.edu	37	12	53823690	53823690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr12:53823690C>T	ENST00000257863.4	+	9	1296	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Nonsense_Mutation_p.R406*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	406	Protein kinase.		R -> Q (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CATGGCCCTCCGACGAGCTGA	0.582000													16	47					0	0	0.003163	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106781346	106781346	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:106781346G>A	ENST00000265717.4	+	5	794	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	179					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CAAAGATGGGGAGCATGTAAT	0.328000													7	44					0	0	0.003080	0	0
DGKH	160851	broad.mit.edu	37	13	42783488	42783488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr13:42783488A>G	ENST00000379274.2	+	23	2758	c.2329A>G	c.(2329-2331)Ata>Gta	p.I777V	DGKH_ENST00000536612.1_Missense_Mutation_p.I777V|DGKH_ENST00000540693.1_Missense_Mutation_p.I913V|DGKH_ENST00000538674.1_Missense_Mutation_p.I668V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.I913V|DGKH_ENST00000337343.4_Missense_Mutation_p.I913V			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	913					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAAAATCACTATATTTGGTGA	0.393000													10	38					0	0	0.008291	0	0
RIMBP2	23504	broad.mit.edu	37	12	130934748	130934748	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr12:130934748T>C	ENST00000261655.4	-	6	690	c.527A>G	c.(526-528)tAt>tGt	p.Y176C	RIMBP2_ENST00000535703.1_Missense_Mutation_p.Y84C|RIMBP2_ENST00000536002.1_Missense_Mutation_p.Y84C	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	176	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACTTACCTATAGCGGGCAAC	0.562000													4	7					0	0	0.000602	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257490	41257490	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr22:41257490G>C	ENST00000307221.4	-	1	640	c.509C>G	c.(508-510)tCt>tGt	p.S170C	XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	170					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GGAAGAGAAAGAAGTAAGGCC	0.353000													14	58					0	0	0.003163	0	0
LRIG2	9860	broad.mit.edu	37	1	113657294	113657294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:113657294C>T	ENST00000361127.4	+	15	2524	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	776	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGGACAGAACGTGGCCACAT	0.463000													25	104					0	0	0.003330	0	0
GPR174	84636	broad.mit.edu	37	X	78427029	78427029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:78427029G>C	ENST00000276077.1	+	1	561	c.525G>C	c.(523-525)agG>agC	p.R175S		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	175						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTCCTACCAGGAATGTCAACC	0.483000										HNSCC(63;0.18)			19	64					0	0	0.006122	0	0
KNTC1	9735	broad.mit.edu	37	12	123078827	123078827	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr12:123078827C>G	ENST00000333479.7	+	43	4427	c.4250C>G	c.(4249-4251)tCt>tGt	p.S1417C	KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1417					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCTAGATTTCTTTTCAACCA	0.343000													21	54					0	0	0.001882	0	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	18					1.52009e-12	1.81295e-12	0.003163	1	0
TARBP1	6894	broad.mit.edu	37	1	234596074	234596074	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:234596074G>T	ENST00000040877.1	-	7	1467	c.1468C>A	c.(1468-1470)Cta>Ata	p.L490I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	490					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCTTAGATAGAAACAAAATG	0.378000													12	36					6.31663e-08	7.26692e-08	0.003163	1	0
P4HTM	54681	broad.mit.edu	37	3	49042401	49042401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:49042401G>A	ENST00000343546.4	+	6	1363	c.995G>A	c.(994-996)gGg>gAg	p.G332E	P4HTM_ENST00000383729.4_Missense_Mutation_p.G332E	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	332	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GTGGACAGTGGGCCTGTGTAC	0.617000													26	48					0	0	0.003330	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602949	138602949	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:138602949C>G	ENST00000440172.1	-	2	1471	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E425Q|KIAA1549_ENST00000422774.1_Missense_Mutation_p.E475Q	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	475						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATCTTCCTCAAATTCAGAG	0.483000			O	BRAF	pilocytic astrocytoma								14	31					0	0	0.001855	0	0
C11orf74	119710	broad.mit.edu	37	11	36654876	36654876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:36654876C>T	ENST00000446510.2	+	3	278	c.179C>T	c.(178-180)tCa>tTa	p.S60L	C11orf74_ENST00000334307.5_Missense_Mutation_p.S60L|C11orf74_ENST00000347206.4_Intron|C11orf74_ENST00000534635.1_Intron			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	60										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				ACTGATTCTTCAGAAAACATT	0.338000													8	34					0	0	0.003080	0	0
YAE1D1	57002	broad.mit.edu	37	7	39606030	39606030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:39606030C>T	ENST00000432096.2	+	1	26	c.13C>T	c.(13-15)Caa>Taa	p.Q5*	YAE1D1_ENST00000448268.1_Nonsense_Mutation_p.Q5*|YAE1D1_ENST00000223273.2_Nonsense_Mutation_p.Q5*			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	5																	GTCGTGGGTTCAAGCAGCCTC	0.622000													15	26					0	0	0.004990	0	0
ASB1	51665	broad.mit.edu	37	2	239344474	239344474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:239344474A>G	ENST00000264607.4	+	3	561	c.314A>G	c.(313-315)gAt>gGt	p.D105G	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	105					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GCCGAGGTGGATCTGGTGGAC	0.627000													12	29					0	0	0.002450	0	0
JADE2	23338	broad.mit.edu	37	5	133896507	133896507	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr5:133896507A>G	ENST00000395003.1	+	6	723	c.544A>G	c.(544-546)Atg>Gtg	p.M182V	PHF15_ENST00000361895.2_Missense_Mutation_p.M182V|PHF15_ENST00000402835.1_Missense_Mutation_p.M182V|PHF15_ENST00000282605.4_Missense_Mutation_p.M182V	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		182					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACCAGAATATGGCCAGGGC	0.617000													10	31					0	0	0.008291	0	0
GPR68	8111	broad.mit.edu	37	14	91700861	91700861	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr14:91700861G>C	ENST00000535815.1	-	2	874	c.534C>G	c.(532-534)atC>atG	p.I178M	GPR68_ENST00000531499.2_Missense_Mutation_p.I178M|GPR68_ENST00000238699.3_Missense_Mutation_p.I188M	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	178					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GCCATGCCTGGATGGGGTAGT	0.622000													3	18					0	0	0.000248	0	0
LRP1B	53353	broad.mit.edu	37	2	141625820	141625820	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:141625820C>G	ENST00000389484.3	-	26	5153	c.4182G>C	c.(4180-4182)tgG>tgC	p.W1394C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1394					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)		CCCAGTCTGTCCAGAAAAGAA	0.358000										TSP Lung(27;0.18)			9	33					0	0	0.006214	0	0
VPS37A	137492	broad.mit.edu	37	8	17142026	17142026	+	Silent	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:17142026A>T	ENST00000324849.4	+	10	1688	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	VPS37A_ENST00000521829.1_Silent_p.A313A	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	338	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AAGTAGCTGCACATGAAGCTG	0.393000													27	21					0	0	0.006320	0	0
MBTPS1	8720	broad.mit.edu	37	16	84104310	84104310	+	Silent	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	555					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522000													16	73					0	0	0.004990	0	0
NDUFB11	54539	broad.mit.edu	37	X	47002066	47002066	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:47002066G>A	ENST00000377811.3	-	2	1109	c.285C>T	c.(283-285)gtC>gtT	p.V95V	NDUFB11_ENST00000276062.8_Silent_p.V95V	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	95					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GGATGATGGAGACGCCAAAGA	0.537000													27	61					0	0	0.005443	0	0
BAHCC1	57597	broad.mit.edu	37	17	79410170	79410170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr17:79410170G>A	ENST00000307745.7	+	9	1795	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K																								CATCAGCGAGGAGCGCAAGGC	0.706000													11	30					0	0	0.000978	0	0
BTN1A1	696	broad.mit.edu	37	6	26509146	26509146	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr6:26509146C>G	ENST00000244513.6	+	7	1391	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	442	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AATGATGGATCTGATATCTAT	0.517000													11	37					0	0	0.008291	0	0
CHST6	4166	broad.mit.edu	37	16	75513142	75513142	+	Silent	SNP	T	T	C	rs138994371		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr16:75513142T>C	ENST00000332272.4	-	3	764	c.585A>G	c.(583-585)ctA>ctG	p.L195L	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.L195L	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	195					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCACGATGCGTAGGTTGAGCG	0.687000													11	44					0	0	0.008291	0	0
VAV3	10451	broad.mit.edu	37	1	108116684	108116684	+	Silent	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:108116684T>A	ENST00000370056.4	-	26	2761	c.2487A>T	c.(2485-2487)ggA>ggT	p.G829G	VAV3_ENST00000544443.1_Silent_p.G233G|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.G857G|VAV3_ENST00000415432.2_Silent_p.G269G	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	829	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CATTTACTTCTCCTCTCCACC	0.483000													47	209					0	0	0.003610	0	0
HCFC1	3054	broad.mit.edu	37	X	153227686	153227686	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:153227686T>C	ENST00000310441.7	-	5	1750	c.784A>G	c.(784-786)Acc>Gcc	p.T262A	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Missense_Mutation_p.T262A|HCFC1_ENST00000354233.3_Missense_Mutation_p.T262A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	262					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCGATGGTGGTTGCCGAG	0.587000													3	30					0	0	0.004672	0	0
USP34	9736	broad.mit.edu	37	2	61415337	61415337	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:61415337A>G	ENST00000398571.2	-	80	10617	c.10541T>C	c.(10540-10542)aTg>aCg	p.M3514T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3514					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGTTGCTGCATATGACTAAA	0.468000													16	68					0	0	0.004990	0	0
PRDX4	10549	broad.mit.edu	37	X	23700515	23700515	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:23700515G>A	ENST00000379341.4	+	5	727	c.602G>A	c.(601-603)gGt>gAt	p.G201D		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	201	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	p.G201D(1)		lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTTACAGAGGTCTCTTCATT	0.373000													12	37					0	0	0.000978	0	0
NUP205	23165	broad.mit.edu	37	7	135279436	135279436	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:135279436G>C	ENST00000285968.6	+	13	1998	c.1972G>C	c.(1972-1974)Gaa>Caa	p.E658Q	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	658					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAAATCTCCTGAAATTGCTGC	0.463000													20	48					0	0	0.001523	0	0
TENM2	57451	broad.mit.edu	37	5	167655115	167655115	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr5:167655115A>G	ENST00000519204.1	+	24	5255	c.5137A>G	c.(5137-5139)Atc>Gtc	p.I1713V	TENM2_ENST00000545108.1_Missense_Mutation_p.I1833V|TENM2_ENST00000520394.1_Missense_Mutation_p.I1595V|TENM2_ENST00000403607.2_Missense_Mutation_p.I1658V|TENM2_ENST00000518659.1_Missense_Mutation_p.I1834V					teneurin transmembrane protein 2																		CAAAGTCACCATCTTTGGCAG	0.498000													9	15					0	0	0.006214	0	0
GRK7	131890	broad.mit.edu	37	3	141499575	141499575	+	Silent	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:141499575G>T	ENST00000264952.2	+	2	1109	c.972G>T	c.(970-972)ctG>ctT	p.L324L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	324	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGTGCTTCTGGATGACCTCG	0.587000													6	27					0.000157383	0.000179472	0.003080	1	0
GRM1	2911	broad.mit.edu	37	6	146720766	146720766	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr6:146720766A>G	ENST00000392299.2	+	8	3061	c.2591A>G	c.(2590-2592)aAg>aGg	p.K864R	GRM1_ENST00000361719.2_Missense_Mutation_p.K864R|GRM1_ENST00000355289.4_Missense_Mutation_p.K864R|GRM1_ENST00000282753.1_Missense_Mutation_p.K864R|GRM1_ENST00000492807.2_Missense_Mutation_p.K864R|GRM1_ENST00000507907.1_Missense_Mutation_p.K864R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	864					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCGATGGCAAGCTGCCCTGC	0.507000													8	27					0	0	0.000978	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14780007	14780007	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr18:14780007C>G	ENST00000358984.4	+	11	1649	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.S490C	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	490										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAGAATATTCTTGGGATTCT	0.313000													5	11					0	0	0.001168	0	0
PTPN21	11099	broad.mit.edu	37	14	88945670	88945670	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr14:88945670G>C	ENST00000556564.1	-	13	2389	c.2105C>G	c.(2104-2106)tCg>tGg	p.S702W	PTPN21_ENST00000328736.3_Missense_Mutation_p.S702W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	702						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTGGCGTCCGACAGGGACTT	0.672000													15	49					0	0	0.004007	0	0
SP8	221833	broad.mit.edu	37	7	20824321	20824321	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:20824321C>A	ENST00000361443.4	-	3	1298	c.1061G>T	c.(1060-1062)gGc>gTc	p.G354V	SP8_ENST00000418710.2_Missense_Mutation_p.G372V	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCTGTGCAGGCCCTTGCGCCG	0.721000													9	20					0.00448238	0.0050451	0.004482	1	0
WDR63	126820	broad.mit.edu	37	1	85547058	85547058	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:85547058C>A	ENST00000294664.6	+	4	425	c.245C>A	c.(244-246)gCt>gAt	p.A82D	WDR63_ENST00000370596.1_Missense_Mutation_p.A82D|WDR63_ENST00000326813.8_Missense_Mutation_p.A82D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	82								p.A82D(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CGCAACAGAGCTGCAGTATCT	0.368000													13	50					0.000308642	0.000350423	0.003163	1	0
PDE6C	5146	broad.mit.edu	37	10	95399902	95399902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr10:95399902G>A	ENST00000371447.3	+	12	1696	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	520					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TACAGAGCACGGATTGATTAA	0.403000													30	71					0	0	0.008361	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713956	142713956	+	RNA	SNP	G	G	A	rs12161184	by1000genomes	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:142713956G>A	ENST00000369381.2	-	0	649																											AAGTTAAAGAGTAACCTGCAC	0.308000													4	14					0	0	0.000248	0	0
OR2M5	127059	broad.mit.edu	37	1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	rs147580819		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463000													73	182					0	0	0.003610	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370532	86370532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr13:86370532C>T	ENST00000400286.2	-	2	710	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	38	LRRNT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCTTTTTCCTCACAATTGCAA	0.398000													4	51					0	0	0.000602	0	0
FOXI1	2299	broad.mit.edu	37	5	169535280	169535280	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr5:169535280C>T	ENST00000306268.6	+	2	863	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	268					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGAAGCGGCCCTCCCCTCC	0.647000									Pendred syndrome				17	63					0	0	0.006122	0	0
AHNAK	79026	broad.mit.edu	37	11	62285788	62285788	+	Silent	SNP	T	T	C	rs146188257		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:62285788T>C	ENST00000378024.4	-	5	16375	c.16101A>G	c.(16099-16101)ggA>ggG	p.G5367G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5367					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCAGGCTTGGTCCCCTCAGTG	0.547000													21	70					0	0	0.001882	0	0
VPS37B	79720	broad.mit.edu	37	12	123355461	123355461	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr12:123355461A>C	ENST00000267202.2	-	2	640	c.259T>G	c.(259-261)Tat>Gat	p.Y87D		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	87	Interaction with IST1.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TTTATCTGATAGGCTTCAAAG	0.448000													24	79					0	0	0.006320	0	0
NDUFA5	4698	broad.mit.edu	37	7	123185711	123185711	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:123185711A>C	ENST00000471770.1	-	4	337	c.203T>G	c.(202-204)tTa>tGa	p.L68*	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000355749.2_Nonsense_Mutation_p.L68*			Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	68					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	TTGGTCTTCTAATTTTTTAAC	0.303000													3	82					0	0	0.000248	0	0
USP19	10869	broad.mit.edu	37	3	49155121	49155121	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:49155121G>C	ENST00000453664.1	-	4	759	c.441C>G	c.(439-441)ttC>ttG	p.F147L	USP19_ENST00000398888.2_Missense_Mutation_p.F147L|USP19_ENST00000434032.2_Missense_Mutation_p.F147L|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.F147L|USP19_ENST00000398892.3_Missense_Mutation_p.F85L|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.F85L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	147	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ctgtatctgtgaaagcagcat	0.502000													14	38					0	0	0.001855	0	0
SCAF11	9169	broad.mit.edu	37	12	46320591	46320591	+	Missense_Mutation	SNP	G	G	A	rs112858085		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr12:46320591G>A	ENST00000465950.1	-	1	3157	c.1948C>T	c.(1948-1950)Cgg>Tgg	p.R650W	SCAF11_ENST00000419565.2_Missense_Mutation_p.R965W|SCAF11_ENST00000549162.1_Missense_Mutation_p.R773W|SCAF11_ENST00000369367.3_Missense_Mutation_p.R965W			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	965					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						CCCTTCCACCGGGGAGAGTAA	0.428000													41	138					0	0	0.006999	0	0
HIF3A	64344	broad.mit.edu	37	19	46828852	46828852	+	Missense_Mutation	SNP	G	G	A	rs139513428		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:46828852G>A	ENST00000339613.2	+	11	1483	c.1228G>A	c.(1228-1230)Ggg>Agg	p.G410R	HIF3A_ENST00000244303.6_Missense_Mutation_p.G397R|HIF3A_ENST00000472815.1_Missense_Mutation_p.G397R|HIF3A_ENST00000377670.4_Missense_Mutation_p.G466R|HIF3A_ENST00000420102.2_Missense_Mutation_p.G415R|HIF3A_ENST00000600383.1_Missense_Mutation_p.G397R|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.G464R			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.G464R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTTCACCTCCGGGAAAGACAC	0.507000													45	129					0	0	0.002852	0	0
CLPB	81570	broad.mit.edu	37	11	72013356	72013356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:72013356G>A	ENST00000294053.3	-	11	1422	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	CLPB_ENST00000340729.5_Nonsense_Mutation_p.R358*|CLPB_ENST00000538021.1_Nonsense_Mutation_p.R25*|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000543042.1_Nonsense_Mutation_p.R216*|CLPB_ENST00000538039.1_Nonsense_Mutation_p.R387*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.R372*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	417					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ACCTCGTGTCGCTCCTGGAAC	0.522000													9	56					0	0	0.006214	0	0
HDAC6	10013	broad.mit.edu	37	X	48665100	48665100	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:48665100A>T	ENST00000334136.5	+	8	797	c.619A>T	c.(619-621)Atg>Ttg	p.M207L	HDAC6_ENST00000376619.2_Missense_Mutation_p.M207L|HDAC6_ENST00000444343.2_Missense_Mutation_p.M221L|HDAC6_ENST00000413163.2_Missense_Mutation_p.M152L|HDAC6_ENST00000469223.1_3'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	207	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.M207L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCGGAATGGCATGGCCATCAT	0.473000													13	31					0	0	0.001368	0	0
NETO1	81832	broad.mit.edu	37	18	70461478	70461478	+	Splice_Site	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr18:70461478C>T	ENST00000327305.6	-	6	1170	c.511_splice	c.e6-1	p.A171_splice	NETO1_ENST00000299430.2_Splice_Site_p.A170_splice|NETO1_ENST00000583169.1_Splice_Site_p.A171_splice	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	171					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.A171A(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAAACTCACACGCTAAATAAC	0.388000													19	61					0	0	0.006122	0	0
NAV2	89797	broad.mit.edu	37	11	20136233	20136233	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:20136233C>T	ENST00000396085.1	+	38	7426	c.7065C>T	c.(7063-7065)ccC>ccT	p.P2355P	NAV2_ENST00000533917.1_Silent_p.P1416P|NAV2_ENST00000527559.2_Silent_p.P2340P|NAV2_ENST00000349880.4_Silent_p.P2352P|NAV2_ENST00000540292.1_Silent_p.P2342P|NAV2_ENST00000396087.3_Silent_p.P2411P|NAV2_ENST00000311043.8_Silent_p.P1416P|NAV2_ENST00000360655.4_Silent_p.P2288P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2411						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGTGGCCTCCCCTGCTGCAGT	0.617000													13	24					0	0	0.001855	0	0
CHD1L	9557	broad.mit.edu	37	1	146739091	146739091	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:146739091T>G	ENST00000369258.4	+	9	922	c.902T>G	c.(901-903)tTt>tGt	p.F301C	CHD1L_ENST00000369259.3_Missense_Mutation_p.F97C|CHD1L_ENST00000431239.1_Missense_Mutation_p.F301C|CHD1L_ENST00000361293.5_Missense_Mutation_p.F20C|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	301					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.F301C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TCAGATGCATTTGAAAATGAG	0.368000													9	28					0	0	0.004482	0	0
ZFP3	124961	broad.mit.edu	37	17	4994843	4994843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr17:4994843C>T	ENST00000318833.3	+	2	380	c.44C>T	c.(43-45)tCt>tTt	p.S15F		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAAGAAATTTCTGAAGAATCT	0.403000													16	15					0	0	0.003163	0	0
OR11L1	391189	broad.mit.edu	37	1	248004351	248004351	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:248004351G>T	ENST00000355784.2	-	1	903	c.848C>A	c.(847-849)cCa>cAa	p.P283Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTTCAGCAGTGGTGTGACCAC	0.443000													17	59					1.02788e-11	1.20927e-11	0.004990	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98775038	98775038	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr9:98775038C>T	ENST00000407474.3	+	4	1662	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CCATGAAAGACCAACAGGACC	0.423000													9	35					0	0	0.004482	0	0
VPS13B	157680	broad.mit.edu	37	8	100831673	100831673	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:100831673C>T	ENST00000358544.2	+	48	8841	c.8730C>T	c.(8728-8730)ccC>ccT	p.P2910P	VPS13B_ENST00000357162.2_Silent_p.P2885P|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2910					protein transport			p.P2885P(1)|p.P2910P(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCAGTTCCCATCTCAACAT	0.363000													7	60					0	0	0.003080	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433149	104433149	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr9:104433149C>G	ENST00000361820.3	-	3	2145	c.1545G>C	c.(1543-1545)ttG>ttC	p.L515F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	515					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAACCACTCTCAAGTGTAGCT	0.507000													26	142					0	0	0.004656	0	0
VSIG1	340547	broad.mit.edu	37	X	107301344	107301344	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:107301344C>G	ENST00000415430.3	+	2	287	c.126C>G	c.(124-126)atC>atG	p.I42M	VSIG1_ENST00000217957.5_Missense_Mutation_p.I42M	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	42	Ig-like V-type 1.					integral to membrane		p.I42M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCACTCTCATCTGCATCTACA	0.448000													19	56					0	0	0.006122	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79734575	79734575	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr5:79734575A>G	ENST00000338008.5	+	3	2251	c.2071A>G	c.(2071-2073)Ata>Gta	p.I691V	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.I691V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.I691V	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	691					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CACTTGTGCTATAGATTCTAC	0.388000													16	35					0	0	0.003163	0	0
ABRACL	58527	broad.mit.edu	37	6	139363993	139363993	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr6:139363993C>T	ENST00000367660.3	+	3	399	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_021243.2	NP_067066.1	Q9P1F3	CF115_HUMAN	ABRA C-terminal like	67																	AGAGCTGCTTCTGCAAGGTGT	0.373000													34	101					0	0	0.004289	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162473	141162473	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:141162473A>G	ENST00000514251.1	+	4	1522	c.1243A>G	c.(1243-1245)Att>Gtt	p.I415V	ZBTB38_ENST00000441582.2_Missense_Mutation_p.I415V|ZBTB38_ENST00000321464.5_Missense_Mutation_p.I416V			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	415					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTATCCTACCATTGGACAAAA	0.448000													27	77					0	0	0.007291	0	0
ERCC3	2071	broad.mit.edu	37	2	128044295	128044295	+	Silent	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:128044295T>C	ENST00000493187.2	-	8	1597	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E	ERCC3_ENST00000285398.2_Silent_p.E442E			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	442	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGGTGTGCACTTCATCCAGGA	0.557000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				23	84					0	0	0.003954	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	64					0	0	0.001168	0	0
RIC8A	60626	broad.mit.edu	37	11	209939	209939	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:209939T>C	ENST00000526104.1	+	3	2009	c.665T>C	c.(664-666)aTg>aCg	p.M222T	RIC8A_ENST00000527696.1_Missense_Mutation_p.M216T|RIC8A_ENST00000325207.5_Missense_Mutation_p.M222T			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	222						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCGGGCCATGGAGATCCTC	0.587000													7	33					0	0	0.003080	0	0
CYLC2	1539	broad.mit.edu	37	9	105767470	105767470	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr9:105767470A>G	ENST00000374798.3	+	5	627	c.557A>G	c.(556-558)aAg>aGg	p.K186R	CYLC2_ENST00000487798.1_Missense_Mutation_p.K186R	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	186	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ggaggtgcaaagaaagataac	0.363000													6	12					0	0	0.001168	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214579	7214579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr10:7214579C>T	ENST00000361972.4	-	18	2119	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	SFMBT2_ENST00000397167.1_Missense_Mutation_p.G677R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	677					regulation of transcription, DNA-dependent	nucleus		p.G677R(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTGCTTTCCCCGATGGGGGGC	0.517000													23	52					0	0	0.003330	0	0
AKAP12	9590	broad.mit.edu	37	6	151672243	151672243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr6:151672243T>C	ENST00000402676.2	+	4	2957	c.2717T>C	c.(2716-2718)aTt>aCt	p.I906T	AKAP12_ENST00000359755.5_Missense_Mutation_p.I801T|AKAP12_ENST00000253332.1_Missense_Mutation_p.I906T|AKAP12_ENST00000354675.6_Missense_Mutation_p.I808T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	906					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.I906T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCTACCATTATTGAAGAAAGG	0.507000													15	41					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	114327022	114327022	+	Splice_Site	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:114327022C>T	ENST00000297405.5	-	2	423	c.178_splice	c.e2-1	p.G60_splice	CSMD3_ENST00000455883.2_Splice_Site_p.G60_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G60_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G20_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	60						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAATAAATCCTGCAACAAA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	93					0	0	0.001523	0	0
SBF2	81846	broad.mit.edu	37	11	10215531	10215531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:10215531G>A	ENST00000256190.8	-	2	196	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	20	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.S20L(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACCTTCTCCTGATCCTGTTAA	0.333000													3	15					0	0	0.004672	0	0
ACVR1B	91	broad.mit.edu	37	12	52380658	52380658	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr12:52380658T>G	ENST00000257963.4	+	7	1270	c.1193T>G	c.(1192-1194)tTt>tGt	p.F398C	ACVR1B_ENST00000542485.1_Missense_Mutation_p.F346C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.F439C|ACVR1B_ENST00000426655.2_Missense_Mutation_p.F398C|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000415850.2_Missense_Mutation_p.F398C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	398	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTTGACTCCTTTAAATGTGCT	0.408000													33	84					0	0	0.003271	0	0
SI	6476	broad.mit.edu	37	3	164735778	164735778	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:164735778A>T	ENST00000264382.3	-	29	3562	c.3500T>A	c.(3499-3501)tTa>tAa	p.L1167*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1167	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.L1167*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCTGTTGAGTAAGAAAACACC	0.338000										HNSCC(35;0.089)			26	31					0	0	0.002096	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069124	6069124	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:6069124A>C	ENST00000381095.3	-	2	1011	c.384T>G	c.(382-384)ttT>ttG	p.F128L	NLGN4X_ENST00000275857.6_Missense_Mutation_p.F128L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.F128L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.F128L|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Missense_Mutation_p.F128L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	128					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AATTGGCGGTAAACCAGATGG	0.478000													25	90					0	0	0.002780	0	0
GLE1	2733	broad.mit.edu	37	9	131285595	131285595	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr9:131285595A>G	ENST00000309971.4	+	5	724	c.618A>G	c.(616-618)aaA>aaG	p.K206K	GLE1_ENST00000372770.4_Silent_p.K206K|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	206					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGAAGCTAAAAGCTGAGCACC	0.488000													3	86					0	0	0.000602	0	0
PEG3	5178	broad.mit.edu	37	19	57325894	57325894	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:57325894T>G	ENST00000326441.9	-	10	4279	c.3916A>C	c.(3916-3918)Aat>Cat	p.N1306H	PEG3_ENST00000593695.1_Missense_Mutation_p.N1180H|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N1306H|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N1182H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1306					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1306H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGGGCTCATTCTTATGAACA	0.448000													18	52					0	0	0.008871	0	0
KMT2A	4297	broad.mit.edu	37	11	118375349	118375349	+	Silent	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:118375349C>A	ENST00000534358.1	+	27	8765	c.8742C>A	c.(8740-8742)gtC>gtA	p.V2914V	KMT2A_ENST00000389506.5_Silent_p.V2911V|KMT2A_ENST00000354520.4_Silent_p.V2873V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ATAGTAGTGTCTCTTCCTCTA	0.478000													39	117					2.54651e-27	3.12307e-27	0.006999	1	0
IRAK3	11213	broad.mit.edu	37	12	66639014	66639014	+	Missense_Mutation	SNP	G	G	A	rs140671957		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr12:66639014G>A	ENST00000261233.4	+	11	1707	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.R368Q	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	429	Protein kinase.		R -> Q (may be associated with ASRT5).		interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCTGCAACGCGGGCAAAGTTA	0.438000													31	87					0	0	0.004878	0	0
NLRP14	338323	broad.mit.edu	37	11	7064378	7064378	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:7064378C>A	ENST00000299481.4	+	4	1467	c.1121C>A	c.(1120-1122)gCc>gAc	p.A374D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	374	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGTGCTGGGCCGCTTGTACT	0.453000													38	109					3.21399e-22	3.92319e-22	0.004878	1	0
ERVFRD-1	405754	broad.mit.edu	37	6	11105000	11105000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr6:11105000G>A	ENST00000472091.1	-	2	919	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.Q182*|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		182						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						AAAGTTCCCTGAGGAAAAGTA	0.453000													58	176					0	0	0.003610	0	0
PRSS1	5644	broad.mit.edu	37	7	142458409	142458409	+	Missense_Mutation	SNP	C	C	T	rs147886164	by1000genomes	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:142458409C>T	ENST00000486171.1	+	2	61	c.44C>T	c.(43-45)gCt>gTt	p.A15V	PRSS1_ENST00000311737.7_Missense_Mutation_p.A15V			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	15					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACTCCAGTTGCTGCCCCCTTT	0.502000													42	222					0	0	0.002852	0	0
SLC24A2	25769	broad.mit.edu	37	9	19516220	19516220	+	Silent	SNP	G	G	C	rs41270119		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr9:19516220G>C	ENST00000341998.2	-	10	1978	c.1917C>G	c.(1915-1917)ctC>ctG	p.L639L	SLC24A2_ENST00000286344.3_Silent_p.L622L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	639					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ACACAAAGTAGAGGCCAAACA	0.493000													33	207					0	0	0.002836	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456987	110456987	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:110456987G>C	ENST00000378402.5	+	38	4993	c.4889G>C	c.(4888-4890)aGg>aCg	p.R1630T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1630	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTGGTATCAGGGAAACTGTC	0.413000										HNSCC(38;0.096)			67	293					0	0	0.003610	0	0
UBE2I	7329	broad.mit.edu	37	16	1370539	1370539	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr16:1370539C>T	ENST00000402301.1	+	5	470	c.434C>T	c.(433-435)cCg>cTg	p.P145L	UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000403747.2_Intron|UBE2I_ENST00000566587.1_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000406620.1_Intron|LA16c-358B7.3_ENST00000568106.1_RNA			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	0					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GCCCTGGCCCCGCTGGTGGCA	0.582000													5	50					0	0	0.000602	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336360	39336360	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:39336360T>C	ENST00000221419.5	-	4	1006	c.640A>G	c.(640-642)Atc>Gtc	p.I214V	HNRNPL_ENST00000600873.1_Missense_Mutation_p.I81V	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	214	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGATTACAGATAGTGTAAAGA	0.478000													13	44					0	0	0.001855	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658432	46658432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr22:46658432G>A	ENST00000253255.5	-	1	787	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	263	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGCGGGCACGGAGAACACCTG	0.667000													9	63					0	0	0.006214	0	0
ZNF616	90317	broad.mit.edu	37	19	52619980	52619980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:52619980G>T	ENST00000600228.1	-	4	698	c.437C>A	c.(436-438)tCa>tAa	p.S146*	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGCCAGACGTGACTCAAAGTT	0.383000													35	122					9.04072e-19	1.0933e-18	0.003271	1	0
CABIN1	23523	broad.mit.edu	37	22	24432587	24432587	+	Silent	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr22:24432587A>G	ENST00000398319.2	+	3	439	c.54A>G	c.(52-54)gaA>gaG	p.E18E	CABIN1_ENST00000405822.2_Silent_p.E18E|CABIN1_ENST00000263119.5_Silent_p.E18E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	18					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGATCATGAAGGAAGCTTTA	0.453000													76	174					0	0	0.003610	0	0
ART3	419	broad.mit.edu	37	4	77033553	77033553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr4:77033553C>T	ENST00000355810.4	+	12	1170	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	ART3_ENST00000341029.5_Missense_Mutation_p.P329S|ART3_ENST00000349321.3_Missense_Mutation_p.P340S	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	351					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTCCAGTTCCTGTTCCAGG	0.403000													22	72					0	0	0.001882	0	0
ZAR1	326340	broad.mit.edu	37	4	48496198	48496198	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr4:48496198C>T	ENST00000327939.4	+	4	1252	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	404					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						AAGATTTGTGCGGTAGATGCA	0.478000													14	62					0	0	0.002450	0	0
PLEC	5339	broad.mit.edu	37	8	144993792	144993792	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:144993792C>T	ENST00000322810.4	-	32	10777	c.10608G>A	c.(10606-10608)gtG>gtA	p.V3536V	PLEC_ENST00000345136.3_Silent_p.V3399V|PLEC_ENST00000354958.2_Silent_p.V3377V|PLEC_ENST00000527096.1_Silent_p.V3422V|PLEC_ENST00000356346.3_Silent_p.V3385V|PLEC_ENST00000398774.2_Silent_p.V3367V|PLEC_ENST00000436759.2_Silent_p.V3426V|PLEC_ENST00000357649.2_Silent_p.V3403V|PLEC_ENST00000354589.3_Silent_p.V3399V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3536	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCACGGGGTCCACCAGGAAGC	0.692000													10	26					0	0	0.008291	0	0
ANKRD17	26057	broad.mit.edu	37	4	74007554	74007554	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr4:74007554G>C	ENST00000358602.4	-	14	2352	c.2236C>G	c.(2236-2238)Cgt>Ggt	p.R746G	ANKRD17_ENST00000330838.6_Missense_Mutation_p.R746G|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R633G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	746					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTGGTACACGAGGAGCCTAA	0.418000													7	27					0	0	0.001984	0	0
FNDC3B	64778	broad.mit.edu	37	3	172070689	172070689	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:172070689G>C	ENST00000336824.4	+	22	2710	c.2611G>C	c.(2611-2613)Gag>Cag	p.E871Q	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E871Q|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E871Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	871	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTGTGTCCTGGAGGAGGAGCC	0.567000													26	68					0	0	0.006320	0	0
SORL1	6653	broad.mit.edu	37	11	121348887	121348887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:121348887G>A	ENST00000260197.7	+	3	592	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	155					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTTAAACTTTGGCTTGGGAAA	0.453000													13	41					0	0	0.001368	0	0
HEPH	9843	broad.mit.edu	37	X	65392280	65392280	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:65392280A>T	ENST00000519389.1	+	3	592	c.413A>T	c.(412-414)gAc>gTc	p.D138V	HEPH_ENST00000343002.2_Missense_Mutation_p.D84V|HEPH_ENST00000419594.1_Missense_Mutation_p.D87V|HEPH_ENST00000441993.2_Missense_Mutation_p.D87V|HEPH_ENST00000374727.3_Missense_Mutation_p.D87V|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	84	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TACAAGGATGACTCATACACA	0.478000													13	41					0	0	0.001368	0	0
IGSF3	3321	broad.mit.edu	37	1	117158883	117158883	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:117158883G>A	ENST00000369486.3	-	3	1005	c.240C>T	c.(238-240)ccC>ccT	p.P80P	IGSF3_ENST00000369483.1_Silent_p.P80P|IGSF3_ENST00000318837.6_Silent_p.P80P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	80	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGATGGCATAGGGGAAGGAAG	0.557000													6	41					0	0	0.001168	0	0
AADAC	13	broad.mit.edu	37	3	151532078	151532078	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr3:151532078T>C	ENST00000232892.6	+	1	254	c.128T>C	c.(127-129)aTa>aCa	p.I43T	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.I43T	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	43					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGAAAACTATACAAAATTTG	0.348000													3	21					0	0	0.004672	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834543	101834543	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr5:101834543G>A	ENST00000506729.1	-	1	177	c.6C>T	c.(4-6)ttC>ttT	p.F2F	SLCO6A1_ENST00000389019.3_Silent_p.F2F|SLCO6A1_ENST00000379807.3_Silent_p.F2F|SLCO6A1_ENST00000379810.1_Silent_p.F2F|SLCO6A1_ENST00000513675.1_Silent_p.F2F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	2						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGACGCCTACGAACATGGCTC	0.711000													31	140					0	0	0.003271	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497609	1497609	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:1497609G>A	ENST00000421627.2	+	2	884	c.750G>A	c.(748-750)gcG>gcA	p.A250A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	329					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCCCGACGCGCTGCAGAGCC	0.677000													36	65					0	0	0.004878	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921797	130921797	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr12:130921797C>T	ENST00000261655.4	-	10	1808	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.V457M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V457M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	549	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACAAGCTCCACGGCCGTGCTG	0.692000													5	4					0	0	0.001168	0	0
MARK1	4139	broad.mit.edu	37	1	220804398	220804398	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:220804398A>T	ENST00000402574.1	+	10	1528	c.526A>T	c.(526-528)Atg>Ttg	p.M176L	MARK1_ENST00000366917.4_Missense_Mutation_p.M311L|MARK1_ENST00000366918.4_Missense_Mutation_p.M289L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	311	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGATCGATGGATGAATGTTGG	0.338000													7	22					0	0	0.004482	0	0
TECTA	7007	broad.mit.edu	37	11	120998603	120998603	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:120998603C>T	ENST00000392793.1	+	9	2188	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	TECTA_ENST00000264037.2_Silent_p.L639L			O75443	TECTA_HUMAN	tectorin alpha	639	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTTCGTCCTCAGCACCAGCC	0.657000													22	69					0	0	0.001882	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821425	203821425	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:203821425A>G	ENST00000545588.1	+	17	6158	c.2331A>G	c.(2329-2331)atA>atG	p.I777M	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777M|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777M	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAACTAATATGGGAGATTT	0.468000													17	42					0	0	0.006122	0	0
FAT1	2195	broad.mit.edu	37	4	187525003	187525003	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr4:187525003G>C	ENST00000441802.2	-	19	10886	c.10677C>G	c.(10675-10677)taC>taG	p.Y3559*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3559	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGCCACCTGAGTATTCTTCTC	0.468000										HNSCC(5;0.00058)			15	23					0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141081531	141081531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:141081531C>A	ENST00000389484.3	-	81	13416	c.12445G>T	c.(12445-12447)Gag>Tag	p.E4149*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4149					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4149*(1)		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)		GCTAAGTACTCTACTGAACCA	0.289000										TSP Lung(27;0.18)			21	55					7.45023e-12	8.84502e-12	0.001523	1	0
SF3B1	23451	broad.mit.edu	37	2	198285204	198285204	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:198285204C>T	ENST00000335508.5	-	4	454	c.363G>A	c.(361-363)aaG>aaA	p.K121K	SF3B1_ENST00000414963.2_Silent_p.K121K|SF3B1_ENST00000487698.1_Silent_p.K121K|SF3B1_ENST00000409915.4_Silent_p.K121K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	121					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCGCCTATGCTTTTTGTATT	0.373000			Mis		myelodysplastic syndrome								23	49					0	0	0.003330	0	0
ROS1	6098	broad.mit.edu	37	6	117710592	117710592	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr6:117710592G>A	ENST00000368508.3	-	12	1878	c.1680C>T	c.(1678-1680)cgC>cgT	p.R560R	ROS1_ENST00000368507.3_Silent_p.R569R|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	560	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTCCTGCGGGCGGCCTGGCA	0.552000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								26	83					0	0	0.003954	0	0
NLRP4	147945	broad.mit.edu	37	19	56388492	56388492	+	Missense_Mutation	SNP	C	C	T	rs147716168		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:56388492C>T	ENST00000301295.6	+	8	3078	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	NLRP4_ENST00000587891.1_Missense_Mutation_p.R811W|NLRP4_ENST00000346986.5_Missense_Mutation_p.R830W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	886							ATP binding	p.R886W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGTTGTGTCGGGCTCTGAC	0.498000													38	108					0	0	0.005524	0	0
BTAF1	9044	broad.mit.edu	37	10	93740247	93740247	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr10:93740247A>T	ENST00000265990.6	+	15	1995	c.1687A>T	c.(1687-1689)Atg>Ttg	p.M563L	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	563					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTGCCTGATATGCTCCGACA	0.373000													11	45					0	0	0.001855	0	0
FRAS1	80144	broad.mit.edu	37	4	79455676	79455676	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr4:79455676C>G	ENST00000264895.6	+	71	11439	c.10999C>G	c.(10999-11001)Cag>Gag	p.Q3667E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3662					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTGAATTTCAGCTCTGCAA	0.418000													42	115					0	0	0.002222	0	0
HIPK1	204851	broad.mit.edu	37	1	114499830	114499830	+	Silent	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:114499830C>T	ENST00000369558.1	+	7	1909	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	HIPK1_ENST00000340480.4_Silent_p.F185F|HIPK1_ENST00000426820.2_Silent_p.F559F|HIPK1_ENST00000406344.1_Silent_p.F165F|HIPK1_ENST00000369553.1_Silent_p.F165F|HIPK1_ENST00000369554.2_Silent_p.F559F|HIPK1_ENST00000369555.2_Silent_p.F559F|HIPK1_ENST00000369559.4_Silent_p.F559F|HIPK1_ENST00000369561.4_Intron			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGTCCCTTCACTACACATG	0.393000													12	43					0	0	0.001368	0	0
SLC6A16	28968	broad.mit.edu	37	19	49813315	49813315	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:49813315T>A	ENST00000454748.3	-	4	883	c.682A>T	c.(682-684)Atg>Ttg	p.M228L	SLC6A16_ENST00000335875.4_Missense_Mutation_p.M228L			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	228						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTAGAGTTCATCGTTAAGGGA	0.468000													28	61					0	0	0.008361	0	0
TANGO6	79613	broad.mit.edu	37	16	68893913	68893913	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr16:68893913G>C	ENST00000261778.1	+	2	233	c.221G>C	c.(220-222)aGa>aCa	p.R74T		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		AAACTCCTAAGAGATGAAATT	0.403000													6	51					0	0	0.001168	0	0
SARDH	1757	broad.mit.edu	37	9	136582547	136582547	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr9:136582547C>A	ENST00000371872.4	-	8	1308	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	SARDH_ENST00000439388.1_Missense_Mutation_p.D351Y|SARDH_ENST00000422262.2_Missense_Mutation_p.D183Y	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	351					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGTCCAGGTCAAAGAGGCCG	0.597000													10	43					2.80697e-09	3.27271e-09	0.000978	1	0
DLG5	9231	broad.mit.edu	37	10	79576322	79576322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr10:79576322G>A	ENST00000372391.2	-	20	4017	c.4012C>T	c.(4012-4014)Cgg>Tgg	p.R1338W	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.R998W	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1338					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCTTTCTCCGCTCCCCGAGG	0.637000													10	64					0	0	0.008291	0	0
USP8	9101	broad.mit.edu	37	15	50769638	50769638	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr15:50769638C>G	ENST00000433963.1	+	11	1660	c.1160C>G	c.(1159-1161)tCt>tGt	p.S387C	USP8_ENST00000307179.4_Missense_Mutation_p.S387C|USP8_ENST00000425032.3_Missense_Mutation_p.S310C|USP8_ENST00000396444.3_Missense_Mutation_p.S387C	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	387					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GTTGCTGCTTCTAAATCTGAT	0.343000													23	43					0	0	0.006320	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768159	77768159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:77768159G>A	ENST00000521891.2	+	10	9450	c.9002G>A	c.(9001-9003)gGa>gAa	p.G3001E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2956E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2956E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2975E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2956						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCAAGGCGGAACGGAAGGC	0.463000										HNSCC(33;0.089)			9	30					0	0	0.006214	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88961250	88961250	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr9:88961250C>G	ENST00000375961.2	-	3	880	c.666G>C	c.(664-666)gaG>gaC	p.E222D	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E222D|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E222D|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.E55D			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	222					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTCAGTCTCTCCTCAGCCT	0.423000													30	134					0	0	0.007291	0	0
SP8	221833	broad.mit.edu	37	7	20824320	20824320	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:20824320G>A	ENST00000361443.4	-	3	1299	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	SP8_ENST00000418710.2_Silent_p.G372G	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCTGTGCAGGCCCTTGCGCC	0.721000													8	20					0	0	0.003080	0	0
SELRC1	65260	broad.mit.edu	37	1	53158471	53158471	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:53158471T>C	ENST00000371538.3	-	2	214	c.175A>G	c.(175-177)Aag>Gag	p.K59E	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	59							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CAGTTAAACTTCAACACCTTG	0.498000													22	67					0	0	0.001523	0	0
FAM84B	157638	broad.mit.edu	37	8	127569307	127569307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:127569307C>A	ENST00000304916.3	-	2	783	c.328G>T	c.(328-330)Gag>Tag	p.E110*	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	110						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			AGCAGGTTCTCGGGCGTGTAG	0.617000													25	25					3.08376e-08	3.56346e-08	0.003330	1	0
TTLL6	284076	broad.mit.edu	37	17	46862375	46862375	+	Silent	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr17:46862375G>A	ENST00000393382.3	-	13	2091	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	TTLL6_ENST00000433608.2_Silent_p.L343L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	602						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCGAGCTGCTGAGATTGATAT	0.537000													72	121					0	0	0.003610	0	0
SUGP2	10147	broad.mit.edu	37	19	19112448	19112448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:19112448G>A	ENST00000601879.1	-	8	3262	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	SUGP2_ENST00000452918.2_Missense_Mutation_p.R989W|SUGP2_ENST00000337018.6_Missense_Mutation_p.R989W|SUGP2_ENST00000600377.1_Missense_Mutation_p.R1003W|SUGP2_ENST00000456085.2_Missense_Mutation_p.R758W			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	989					mRNA processing|RNA splicing	nucleus	RNA binding	p.R989W(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGACGACCCCGAGGCCTGTCA	0.423000													11	62					0	0	0.001855	0	0
IL13RA2	3598	broad.mit.edu	37	X	114238663	114238663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:114238663C>T	ENST00000371936.1	-	11	1372	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E375K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	375						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.E375K(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CAGAAAAATTCTGGAATCTAG	0.333000													6	16					0	0	0.003080	0	0
EMP3	2014	broad.mit.edu	37	19	48830823	48830823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr19:48830823G>A	ENST00000270221.6	+	3	425	c.124G>A	c.(124-126)Gac>Aac	p.D42N	EMP3_ENST00000597279.1_Missense_Mutation_p.D42N|EMP3_ENST00000596315.1_5'UTR	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	42					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TCTCTGGTACGACTGCACGTG	0.562000													7	32					0	0	0.004482	0	0
RNF220	55182	broad.mit.edu	37	1	44878151	44878151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:44878151G>A	ENST00000355387.2	+	2	832	c.382G>A	c.(382-384)Gac>Aac	p.D128N	RNF220_ENST00000361799.2_Missense_Mutation_p.D128N|RNF220_ENST00000372247.2_Missense_Mutation_p.D128N			Q5VTB9	RN220_HUMAN	ring finger protein 220	128					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTCCACCGAGGACCGGGAGAG	0.552000													25	95					0	0	0.003954	0	0
SASS6	163786	broad.mit.edu	37	1	100591488	100591488	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:100591488T>C	ENST00000287482.5	-	2	216	c.76A>G	c.(76-78)Ata>Gta	p.I26V	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	26					centriole replication	centriole		p.I26V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTCATTCTTATACTTACTCTC	0.333000													22	58					0	0	0.003954	0	0
C4orf33	132321	broad.mit.edu	37	4	130023943	130023943	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr4:130023943G>A	ENST00000281146.4	+	2	899	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	C4orf33_ENST00000502887.1_Missense_Mutation_p.E60K|C4orf33_ENST00000425929.1_Missense_Mutation_p.E60K	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	60								p.E60K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGGGATTATGAAGGTAAGTG	0.388000													23	74					0	0	0.003330	0	0
FAM47C	442444	broad.mit.edu	37	X	37027222	37027222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:37027222C>T	ENST00000358047.3	+	1	791	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	247										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.627000													18	66					0	0	0.007413	0	0
BAG5	9529	broad.mit.edu	37	14	104028278	104028278	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr14:104028278T>C	ENST00000337322.4	-	1	357	c.67A>G	c.(67-69)Att>Gtt	p.I23V	BAG5_ENST00000299204.4_Intron|BAG5_ENST00000445922.2_Intron	NM_001015049.2	NP_001015049.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	0	BAG 1.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AATGGCCTAATGCACGTTTCA	0.493000													5	46					0	0	0.000602	0	0
TBX22	50945	broad.mit.edu	37	X	79283536	79283536	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:79283536T>C	ENST00000442340.1	+	8	1040	c.550T>C	c.(550-552)Ttc>Ctc	p.F184L	TBX22_ENST00000373291.1_Missense_Mutation_p.F184L|TBX22_ENST00000373296.3_Missense_Mutation_p.F304L|TBX22_ENST00000373294.5_Missense_Mutation_p.F304L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	304					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAGGCCTTCTTTCACTCTCGA	0.368000													13	56					0	0	0.001855	0	0
INPP5D	3635	broad.mit.edu	37	2	233925301	233925301	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:233925301G>A	ENST00000359570.5	+	1	113	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	INPP5D_ENST00000538935.1_Missense_Mutation_p.R38Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	38	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCATCTCCCGGGCATACGCG	0.617000													15	57					0	0	0.006122	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397422	5397422	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr18:5397422T>C	ENST00000341928.2	-	18	2816	c.2476A>G	c.(2476-2478)Atg>Gtg	p.M826V	EPB41L3_ENST00000544123.1_Missense_Mutation_p.M657V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.M604V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.M604V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.M826V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.M123V|EPB41L3_ENST00000542146.1_Missense_Mutation_p.M131V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	826	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTGGTTTCCATTTTCTGCATG	0.517000													32	82					0	0	0.004289	0	0
PTK7	5754	broad.mit.edu	37	6	43096755	43096755	+	Silent	SNP	C	C	T	rs140431672		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr6:43096755C>T	ENST00000230419.4	+	2	341	c.120C>T	c.(118-120)tcC>tcT	p.S40S	PTK7_ENST00000476760.1_Silent_p.S40S|PTK7_ENST00000481273.1_Silent_p.S48S|PTK7_ENST00000352931.2_Silent_p.S40S|PTK7_ENST00000349241.2_Silent_p.S40S|PTK7_ENST00000345201.2_Silent_p.S40S|PTK7_ENST00000471863.1_Silent_p.S40S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	40	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCCGTCCTCCCAGGATGCAC	0.637000													11	50					0	0	0.001368	0	0
ITLN1	55600	broad.mit.edu	37	1	160850996	160850996	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:160850996G>T	ENST00000326245.3	-	5	627	c.512C>A	c.(511-513)aCg>aAg	p.T171K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	171	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	p.T171K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCAGTGTCCGTGCGGTACCT	0.562000													30	92					1.30897e-18	1.57561e-18	0.001786	1	0
WIPF2	147179	broad.mit.edu	37	17	38433351	38433351	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr17:38433351G>C	ENST00000323571.4	+	7	1437	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.K399N|WIPF2_ENST00000394103.3_Missense_Mutation_p.K141N|WIPF2_ENST00000583130.1_Missense_Mutation_p.K399N|WIPF2_ENST00000536600.1_Missense_Mutation_p.K141N	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	399						cytoplasm|cytoskeleton	actin binding	p.K399N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TTGAGTCAAAGTATTCCTTCC	0.413000										HNSCC(43;0.11)			20	78					0	0	0.008871	0	0
C12orf74	338809	broad.mit.edu	37	12	93100819	93100819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr12:93100819C>T	ENST00000544406.2	+	2	678	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	C12orf74_ENST00000397833.3_Nonsense_Mutation_p.Q138*			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	138										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TCCTGAGCTTCAGCCTGTCAA	0.582000													12	50					0	0	0.001368	0	0
CCNE2	9134	broad.mit.edu	37	8	95894373	95894373	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr8:95894373T>C	ENST00000520509.1	-	11	1340	c.1088A>G	c.(1087-1089)tAt>tGt	p.Y363C	CCNE2_ENST00000308108.4_Missense_Mutation_p.Y363C|CCNE2_ENST00000396133.3_Missense_Mutation_p.Y363C			O96020	CCNE2_HUMAN	cyclin E2	363					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CATAGCCAAATAGTTTGTATG	0.363000													21	76					0	0	0.004656	0	0
VPS16	64601	broad.mit.edu	37	20	2844895	2844895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr20:2844895C>T	ENST00000380445.3	+	17	1754	c.1682C>T	c.(1681-1683)gCa>gTa	p.A561V	VPS16_ENST00000380469.3_Missense_Mutation_p.A417V|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.A247V	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	561					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCAAACTGGCACTAAGCAAG	0.602000													14	41					0	0	0.001855	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													5	70					0	0	0.001984	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619477	15619477	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr17:15619477G>T	ENST00000464847.2	+	5	992	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	ZNF286A_ENST00000421016.1_Missense_Mutation_p.V147F|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.V137F|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.V147F|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000413242.2_Missense_Mutation_p.V147F			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		ACGGAATAGTGTCTATGACTC	0.403000													19	20					3.62473e-10	4.24518e-10	0.001882	1	0
USP34	9736	broad.mit.edu	37	2	61515972	61515973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:61515972_61515973insA	ENST00000398571.2	-	34	4664_4665	c.4588_4589insT	c.(4588-4590)ccafs	p.P1530fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1530					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGCAAACTGGCATATTAACTTC	0.411													20	40	---	---	---	---					
SLC25A12	8604	broad.mit.edu	37	2	172644450	172644451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:172644450_172644451insG	ENST00000422440.2	-	16	1629_1630	c.1592_1593insC	c.(1591-1593)cgcfs	p.R531fs	SLC25A12_ENST00000392592.4_Frame_Shift_Ins_p.R424fs	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	531					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGATGCAGCTGGGACACCTTT	0.465													16	39	---	---	---	---					
CXCL9	4283	broad.mit.edu	37	4	76928561	76928572	+	In_Frame_Del	DEL	CAAGATGATGCC	CAAGATGATGCC	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:76928561_76928572delCAAGATGATGCC	ENST00000264888.5	-	1	69_80	c.31_42delGGCATCATCTTG	c.(31-42)del	p.GIIL11del		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	11					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCAGAACCAGCAAGATGATGCCCAAGAGGAAA	0.396													11	101	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142513667	142513667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:142513667delA	ENST00000378004.3	+	19	2189	c.1834delA	c.(1834-1836)aafs	p.K612fs	ARHGAP26_ENST00000274498.4_Frame_Shift_Del_p.K612fs	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	612	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAACAGAGAAACGTGAGTC	0.587													18	87	---	---	---	---					
UFSP1	402682	broad.mit.edu	37	7	100486561	100486562	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:100486561_100486562delCC	ENST00000388761.2	-	1	777_778	c.331_332delGG	c.(331-333)cfs	p.G111fs		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	111										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCTTGCCAGCCCACCCACCCA	0.584													24	100	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139810963	139810964	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:139810963_139810964insA	ENST00000397560.2	-	11	1456_1457	c.1359_1360insT	c.(1357-1362)ttaaatfs	p.LN453fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.LN453fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		453					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCTGGAATTTCAAAGGCATGTT	0.297													12	56	---	---	---	---					
FAM66D	100132923	broad.mit.edu	37	8	11994626	11994627	+	RNA	DEL	GT	GT	-	rs138516564	by1000genomes	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:11994626_11994627delGT	ENST00000434078.2	+	0	608					NR_027425.1																						gtatttgtgcgtgtgtgtgtgt	0.510													7	33	---	---	---	---					
FAM24B	196792	broad.mit.edu	37	10	124610029	124610030	+	Translation_Start_Site	INS	-	-	A	rs146874803		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:124610029_124610030insA	ENST00000368898.3	-	0	292_293				CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Start_Codon_Ins|FAM24B_ENST00000462859.1_Intron	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B							extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CGATGACAGGCATAATCACTGT	0.500													26	71	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													10	65	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118368762	118368763	+	Frame_Shift_Ins	INS	-	-	T	rs140545520		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:118368762_118368763insT	ENST00000534358.1	+	21	5799_5800	c.5776_5777insT	c.(5776-5778)ggcfs	p.G1926fs	KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.G1923fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.G1885fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAATGTGCATATGGCTGTGATC	0.406													22	82	---	---	---	---					
MRPS31P5	100887750	broad.mit.edu	37	13	52742289	52742303	+	RNA	DEL	CCCTCTGGTAGTTAT	CCCTCTGGTAGTTAT	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:52742289_52742303delCCCTCTGGTAGTTAT	ENST00000451298.1	-	0	3336_3350				RP11-64P12.8_ENST00000606031.1_RNA																							AGAGAACTGACCCTCTGGTAGTTATCTTTGGGGGA	0.516													10	80	---	---	---	---					
MDGA2	161357	broad.mit.edu	37	14	47566080	47566080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:47566080delT	ENST00000426342.1	-	6	1024	c.278delA	c.(277-279)agfs	p.K93fs	MDGA2_ENST00000439988.2_Frame_Shift_Del_p.K322fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.K93fs|MDGA2_ENST00000399232.2_Frame_Shift_Del_p.K391fs	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	322	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTTGGTGGACTTTTTTGCAGG	0.393													25	104	---	---	---	---					
ABR	29	broad.mit.edu	37	17	914076	914077	+	In_Frame_Ins	INS	-	-	TCA			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:914076_914077insTCA	ENST00000544583.2	-	20	2589_2590	c.1990_1991insTGA	c.(1990-1992)tga>TGAtga	p.664_664*>**	ABR_ENST00000572441.1_Intron|ABR_ENST00000291107.2_In_Frame_Ins_p.673_673*>**|ABR_ENST00000543210.2_In_Frame_Ins_p.161_161*>**|ABR_ENST00000536794.2_In_Frame_Ins_p.492_492*>**|ABR_ENST00000302538.5_In_Frame_Ins_p.710_710*>**|ABR_ENST00000574437.1_In_Frame_Ins_p.664_664*>**	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	710	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.S710delS(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GTCCATGTCACTCAGCATCAGC	0.634													69	93	---	---	---	---					
SLC9A6	10479	broad.mit.edu	37	X	135098865	135098865	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:135098865delT	ENST00000370695.4	+	10	1333	c.1298delT	c.(1297-1299)cgfs	p.L433fs	SLC9A6_ENST00000370701.1_Frame_Shift_Del_p.L381fs|SLC9A6_ENST00000370698.3_Frame_Shift_Del_p.L401fs	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	401					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.L401Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGACACTGTTCACCTTC	0.333													25	65	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61515972	61515973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:61515972_61515973insA	ENST00000398571.2	-	34	4664_4665	c.4588_4589insT	c.(4588-4590)ccafs	p.P1530fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1530					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGCAAACTGGCATATTAACTTC	0.411													20	40	---	---	---	---					
SLC25A12	8604	broad.mit.edu	37	2	172644450	172644451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:172644450_172644451insG	ENST00000422440.2	-	16	1629_1630	c.1592_1593insC	c.(1591-1593)cgcfs	p.R531fs	SLC25A12_ENST00000392592.4_Frame_Shift_Ins_p.R424fs	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	531					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGATGCAGCTGGGACACCTTT	0.465													16	39	---	---	---	---					
CXCL9	4283	broad.mit.edu	37	4	76928561	76928572	+	In_Frame_Del	DEL	CAAGATGATGCC	CAAGATGATGCC	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr4:76928561_76928572delCAAGATGATGCC	ENST00000264888.5	-	1	69_80	c.31_42delGGCATCATCTTG	c.(31-42)del	p.GIIL11del		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	11					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCAGAACCAGCAAGATGATGCCCAAGAGGAAA	0.396													11	101	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142513667	142513667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr5:142513667delA	ENST00000378004.3	+	19	2189	c.1834delA	c.(1834-1836)aafs	p.K612fs	ARHGAP26_ENST00000274498.4_Frame_Shift_Del_p.K612fs	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	612	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAACAGAGAAACGTGAGTC	0.587													18	87	---	---	---	---					
UFSP1	402682	broad.mit.edu	37	7	100486561	100486562	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:100486561_100486562delCC	ENST00000388761.2	-	1	777_778	c.331_332delGG	c.(331-333)cfs	p.G111fs		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	111										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCTTGCCAGCCCACCCACCCA	0.584													24	100	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139810963	139810964	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr7:139810963_139810964insA	ENST00000397560.2	-	11	1456_1457	c.1359_1360insT	c.(1357-1362)ttaaatfs	p.LN453fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.LN453fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		453					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCTGGAATTTCAAAGGCATGTT	0.297													12	56	---	---	---	---					
FAM24B	196792	broad.mit.edu	37	10	124610029	124610030	+	Translation_Start_Site	INS	-	-	A	rs146874803		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr10:124610029_124610030insA	ENST00000368898.3	-	0	292_293				FAM24B_ENST00000462859.1_Intron|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Start_Codon_Ins|CUZD1_ENST00000545804.1_Intron	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B							extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CGATGACAGGCATAATCACTGT	0.500													26	71	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118368762	118368763	+	Frame_Shift_Ins	INS	-	-	T	rs140545520		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr11:118368762_118368763insT	ENST00000534358.1	+	21	5799_5800	c.5776_5777insT	c.(5776-5778)ggcfs	p.G1926fs	KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.G1923fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.G1885fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAATGTGCATATGGCTGTGATC	0.406													22	82	---	---	---	---					
MRPS31P5	100887750	broad.mit.edu	37	13	52742289	52742303	+	RNA	DEL	CCCTCTGGTAGTTAT	CCCTCTGGTAGTTAT	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr13:52742289_52742303delCCCTCTGGTAGTTAT	ENST00000451298.1	-	0	3336_3350				RP11-64P12.8_ENST00000606031.1_RNA																							AGAGAACTGACCCTCTGGTAGTTATCTTTGGGGGA	0.516													10	80	---	---	---	---					
MDGA2	161357	broad.mit.edu	37	14	47566080	47566080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr14:47566080delT	ENST00000426342.1	-	6	1024	c.278delA	c.(277-279)agfs	p.K93fs	MDGA2_ENST00000357362.3_Frame_Shift_Del_p.K93fs|MDGA2_ENST00000399232.2_Frame_Shift_Del_p.K391fs|MDGA2_ENST00000439988.2_Frame_Shift_Del_p.K322fs	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	322	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTTGGTGGACTTTTTTGCAGG	0.393													25	104	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518	by1000genomes	TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gca>gAGAca	p.152_152A>ET		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	152										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.520													2	4	---	---	---	---					
ABR	29	broad.mit.edu	37	17	914076	914077	+	In_Frame_Ins	INS	-	-	TCA			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr17:914076_914077insTCA	ENST00000544583.2	-	20	2589_2590	c.1990_1991insTGA	c.(1990-1992)tga>TGAtga	p.664_664*>**	ABR_ENST00000543210.2_In_Frame_Ins_p.161_161*>**|ABR_ENST00000572441.1_Intron|ABR_ENST00000574437.1_In_Frame_Ins_p.664_664*>**|ABR_ENST00000536794.2_In_Frame_Ins_p.492_492*>**|ABR_ENST00000302538.5_In_Frame_Ins_p.710_710*>**|ABR_ENST00000291107.2_In_Frame_Ins_p.673_673*>**	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	710	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.S710delS(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GTCCATGTCACTCAGCATCAGC	0.634													69	93	---	---	---	---					
SLC9A6	10479	broad.mit.edu	37	X	135098865	135098865	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chrX:135098865delT	ENST00000370695.4	+	10	1333	c.1298delT	c.(1297-1299)cgfs	p.L433fs	SLC9A6_ENST00000370701.1_Frame_Shift_Del_p.L381fs|SLC9A6_ENST00000370698.3_Frame_Shift_Del_p.L401fs	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	401					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.L401Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGACACTGTTCACCTTC	0.333													25	65	---	---	---	---