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
RAP1GAP	5909	broad.mit.edu	37	1	21938046	21938046	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:21938046C>A	ENST00000542643.2	-	14	1044	c.742G>T	c.(742-744)Ggg>Tgg	p.G248W	RAP1GAP_ENST00000374765.4_Missense_Mutation_p.G248W|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.G279W|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.G312W|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.G248W	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	248	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCCGTCTGCCCGTGGGTCACG	0.662000													13	40					1.52009e-12	1.83144e-12	0.003163	1	0
TARBP1	6894	broad.mit.edu	37	1	234561434	234561434	+	Silent	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:234561434G>A	ENST00000040877.1	-	20	3428	c.3429C>T	c.(3427-3429)atC>atT	p.I1143I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1143					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)			CTAATAGCTTGATTGCAAGAT	0.323000													6	22					0	0	0.001168	0	0
BEND2	139105	broad.mit.edu	37	X	18209144	18209144	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chrX:18209144G>A	ENST00000380033.4	-	8	1397	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	BEND2_ENST00000380030.3_Missense_Mutation_p.S331F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	422										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAGGCAGGCAGATGCTGAAGC	0.378000													5	22					0	0	0.000602	0	0
CELA2A	63036	broad.mit.edu	37	1	15788060	15788060	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:15788060C>T	ENST00000359621.4	+	3	159	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	45	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCCCAGGTCTCCCTGCAGTAC	0.592000													10	31					0	0	0.006214	0	0
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:72081809T>C	ENST00000343721.5	-	0	816				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GAACTTTCTCTGCAGTAGGTA	0.498000													4	45					0	0	0.001984	0	0
OTOF	9381	broad.mit.edu	37	2	26705443	26705443	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr2:26705443C>T	ENST00000272371.2	-	14	1536	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	OTOF_ENST00000403946.3_Silent_p.Q470Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	470	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGCTCTTCTGCACTGAAG	0.577000													5	33					0	0	0.000602	0	0
PLCG1	5335	broad.mit.edu	37	20	39788556	39788556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr20:39788556G>A	ENST00000373272.2	+	3	822	c.417G>A	c.(415-417)tgG>tgA	p.W139*	PLCG1_ENST00000244007.3_Nonsense_Mutation_p.W139*|PLCG1_ENST00000373271.1_Nonsense_Mutation_p.W139*	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	139	PH 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCTTAACTTGGCTGATGGAGG	0.552000													3	34					0	0	0.000248	0	0
SPSB2	84727	broad.mit.edu	37	12	6981794	6981794	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr12:6981794C>A	ENST00000519357.1	-	2	458	c.272G>T	c.(271-273)tGg>tTg	p.W91L	SPSB2_ENST00000524270.1_Missense_Mutation_p.W91L|SPSB2_ENST00000523102.1_Missense_Mutation_p.W91L			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	91	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGATCTCCCAGGCGTGCAG	0.687000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	74					0.000157383	0.000181946	0.003080	1	0
PI16	221476	broad.mit.edu	37	6	36930798	36930798	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:36930798C>G	ENST00000373674.3	+	5	1008	c.680C>G	c.(679-681)tCt>tGt	p.S227C	PI16_ENST00000491324.1_3'UTR	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	227						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCATCAGACTCTAGGAAAATG	0.547000													15	44					0	0	0.002450	0	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													4	110					0	0	0.000248	0	0
KRT16	3868	broad.mit.edu	37	17	39767451	39767451	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:39767451C>G	ENST00000301653.4	-	4	867	c.803G>C	c.(802-804)gGa>gCa	p.G268A		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	268	Linker 12.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTTCACATCTCCGCCGGTCTG	0.592000													17	29					0	0	0.004007	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244602	1244602	+	RNA	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr4:1244602C>T	ENST00000581398.1	+	0	556				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA	NR_033339.1																						ATTCCTGGCTCCCGCGTGGAC	0.562000													5	32					0	0	0.000602	0	0
RANBP2	5903	broad.mit.edu	37	2	109384287	109384287	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr2:109384287C>T	ENST00000283195.6	+	20	7418	c.7292C>T	c.(7291-7293)tCg>tTg	p.S2431L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2431	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.S2431*(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTTGCAGACTCGTTTAAGAAA	0.393000													60	140					0	0	0.003610	0	0
CHERP	10523	broad.mit.edu	37	19	16634045	16634045	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:16634045C>G	ENST00000546361.2	-	11	1949	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.E611Q	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	600	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGCGGGTGCTCGTTGATGCCA	0.662000													4	67					0	0	0.000602	0	0
SORCS1	114815	broad.mit.edu	37	10	108371772	108371772	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr10:108371772C>T	ENST00000263054.6	-	22	2937	c.2930G>A	c.(2929-2931)cGg>cAg	p.R977Q	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.R512Q|SORCS1_ENST00000344440.6_Missense_Mutation_p.R977Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	977						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCGAAGAGACCGGAATTCCTC	0.443000													4	20					0	0	0.000602	0	0
DBX2	440097	broad.mit.edu	37	12	45410290	45410290	+	Missense_Mutation	SNP	G	G	A	rs148988684		TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr12:45410290G>A	ENST00000332700.6	-	4	970	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AGAGCAGACCGTGAGAGGGGA	0.488000													10	87					0	0	0.008291	0	0
GLYR1	84656	broad.mit.edu	37	16	4873850	4873850	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr16:4873850G>A	ENST00000321919.9	-	6	672	c.596C>T	c.(595-597)gCg>gTg	p.A199V	GLYR1_ENST00000591451.1_Missense_Mutation_p.A199V|GLYR1_ENST00000436648.5_Missense_Mutation_p.A118V|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.A199V	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	199					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCATTTAAACGCGGCCATCGG	0.527000													19	103					0	0	0.001882	0	0
GSTO2	119391	broad.mit.edu	37	10	106035020	106035020	+	Translation_Start_Site	SNP	T	T	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr10:106035020T>G	ENST00000369707.2	+	0	101				GSTO2_ENST00000450629.2_Missense_Mutation_p.I24S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000429569.2_De_novo_Start_InFrame|GSTO2_ENST00000401888.2_Missense_Mutation_p.I24S|GSTO2_ENST00000338595.2_Missense_Mutation_p.I24S	NM_001191014.1	NP_001177943.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2						water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	GAGGGGCTGATCCGCATCTAC	0.637000											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	88					0	0	0.001855	0	0
CROCC	9696	broad.mit.edu	37	1	17272853	17272853	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:17272853G>A	ENST00000375541.5	+	16	2305	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	746					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCCCTCAACGAGAGCCTTGC	0.657000													11	58					0	0	0.000978	0	0
KCNC3	3748	broad.mit.edu	37	19	50826854	50826854	+	Silent	SNP	G	G	A	rs147215054		TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:50826854G>A	ENST00000376959.2	-	2	1519	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000477616.1_Silent_p.I452I|KCNC3_ENST00000391818.2_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	452					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CCAGGAAGATGATGAGCAGCA	0.627000													8	45					0	0	0.003080	0	0
CACNA1A	773	broad.mit.edu	37	19	13345799	13345799	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:13345799C>T	ENST00000360228.5	-	34	5184	c.5185G>A	c.(5185-5187)Gag>Aag	p.E1729K	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1730K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1730					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATTTGGAACTCATCTTCATCA	0.527000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	70					0	0	0.003163	0	0
EPHB1	2047	broad.mit.edu	37	3	134514489	134514489	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr3:134514489C>G	ENST00000398015.3	+	1	386	c.16C>G	c.(16-18)Cta>Gta	p.L6V	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	6						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTGGATTATCTACTACTGCT	0.697000													15	98					0	0	0.003163	0	0
GPNMB	10457	broad.mit.edu	37	7	23309711	23309711	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:23309711C>T	ENST00000258733.4	+	9	1641	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	GPNMB_ENST00000381990.2_Missense_Mutation_p.S461F|GPNMB_ENST00000539136.1_Missense_Mutation_p.S350F|GPNMB_ENST00000453162.2_Missense_Mutation_p.S403F			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	461					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TTCAATGGGTCTGGGACGTAC	0.527000													22	35					0	0	0.001523	0	0
AUP1	550	broad.mit.edu	37	2	74754085	74754085	+	Silent	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr2:74754085T>C	ENST00000377526.3	-	11	1488	c.1179A>G	c.(1177-1179)ctA>ctG	p.L393L		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	459	CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CGTATTCATATAGTGCTTGCT	0.517000													7	41					0	0	0.003080	0	0
LAMA2	3908	broad.mit.edu	37	6	129486762	129486762	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:129486762C>T	ENST00000421865.2	+	9	1297	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	416	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATGTCATTGCGATCCAATTG	0.388000													4	18					0	0	0.001984	0	0
ZNF761	388561	broad.mit.edu	37	19	53959565	53959565	+	RNA	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:53959565G>A	ENST00000454407.1	+	0	2257							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AATTCATACTGAAGAGAATCC	0.398000													32	129					0	0	0.002445	0	0
OCLN	100506658	broad.mit.edu	37	5	68805495	68805495	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr5:68805495A>G	ENST00000355237.2	+	3	1014	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	OCLN_ENST00000396442.2_Missense_Mutation_p.Y193C|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.Y193C|OCLN_ENST00000538151.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	193	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ACAATTGTCTATATAATGGGA	0.393000													9	114					0	0	0.004482	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515128	47515128	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:47515128C>T	ENST00000371901.3	+	11	1557	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F	CYP4X1_ENST00000538609.1_Missense_Mutation_p.S435F	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	436						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CAGGAGAATTCTGATCAGAGA	0.448000													15	38					0	0	0.003163	0	0
PEAR1	375033	broad.mit.edu	37	1	156877441	156877441	+	Missense_Mutation	SNP	C	C	G	rs148520058	byFrequency	TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:156877441C>G	ENST00000338302.3	+	8	909	c.684C>G	c.(682-684)ttC>ttG	p.F228L	PEAR1_ENST00000292357.7_Missense_Mutation_p.F228L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	228	EGF-like 2.					integral to membrane		p.F228F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTTCTTCTGCCCCAGCA	0.582000													5	164					0	0	0.000602	0	0
MDN1	23195	broad.mit.edu	37	6	90424276	90424276	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:90424276C>A	ENST00000369393.3	-	46	7170	c.7055G>T	c.(7054-7056)cGg>cTg	p.R2352L	MDN1_ENST00000428876.1_Missense_Mutation_p.R2352L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2352					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AACAGTGCTCCGGGTCTCTGT	0.463000													10	52					3.86212e-05	4.5171e-05	0.008291	1	0
PCNX	22990	broad.mit.edu	37	14	71555916	71555916	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr14:71555916G>C	ENST00000304743.2	+	30	5892	c.5446G>C	c.(5446-5448)Gag>Cag	p.E1816Q	PCNX_ENST00000238570.5_Missense_Mutation_p.E1744Q|PCNX_ENST00000439984.3_Missense_Mutation_p.E1705Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1816						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGTAATTTAGAGTCATTCCT	0.378000													7	32					0	0	0.001984	0	0
MMP9	4318	broad.mit.edu	37	20	44640876	44640876	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr20:44640876C>T	ENST00000372330.3	+	7	1117	c.1098C>T	c.(1096-1098)cgC>cgT	p.R366R		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	366	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCGAGGGCCGCGGAGATGGGC	0.652000													9	102					0	0	0.006214	0	0
NHS	4810	broad.mit.edu	37	X	17744282	17744282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chrX:17744282C>T	ENST00000380060.3	+	6	2331	c.1993C>T	c.(1993-1995)Caa>Taa	p.Q665*	NHS_ENST00000398097.3_Nonsense_Mutation_p.Q509*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	665						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGTGACAGAGCAATACAATGA	0.502000													26	69					0	0	0.005443	0	0
ZNF432	9668	broad.mit.edu	37	19	52538020	52538020	+	Silent	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:52538020G>A	ENST00000594154.1	-	5	1124	c.912C>T	c.(910-912)ctC>ctT	p.L304L	ZNF432_ENST00000221315.5_Silent_p.L304L			O94892	ZN432_HUMAN	zinc finger protein 432	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GATGTACAATGAGATTACGCT	0.418000													16	93					0	0	0.003163	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497486	50497486	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr15:50497486G>A	ENST00000267842.5	+	4	1130	c.898G>A	c.(898-900)Gac>Aac	p.D300N	SLC27A2_ENST00000380902.4_Missense_Mutation_p.D247N|SLC27A2_ENST00000544960.1_Missense_Mutation_p.D65N	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	300					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GTTTTGGGATGACTGCAGAAA	0.428000													5	66					0	0	0.000602	0	0
XYLT2	64132	broad.mit.edu	37	17	48437382	48437382	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:48437382G>C	ENST00000017003.2	+	11	2377	c.2328G>C	c.(2326-2328)caG>caC	p.Q776H	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	776					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACATGGAGCAGAGTTTCCAGG	0.647000													4	14					0	0	0.000248	0	0
TOPBP1	11073	broad.mit.edu	37	3	133368235	133368235	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr3:133368235G>A	ENST00000260810.5	-	10	1627	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	499					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACCTACTGTGGAGCTACCATT	0.348000								Other conserved DNA damage response genes					9	28					0	0	0.004482	0	0
ASXL3	80816	broad.mit.edu	37	18	31325369	31325369	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr18:31325369G>A	ENST00000269197.5	+	12	5557	c.5557G>A	c.(5557-5559)Gat>Aat	p.D1853N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGTGGAGCCAGATGTTAAAGG	0.458000													34	151					0	0	0.004289	0	0
HINFP	25988	broad.mit.edu	37	11	119003911	119003911	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:119003911C>T	ENST00000350777.2	+	9	1184	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	HINFP_ENST00000527410.1_Missense_Mutation_p.S374L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	374	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGTGGCCCTCAGGGCATCCC	0.463000													10	91					0	0	0.008291	0	0
ADRA1A	148	broad.mit.edu	37	8	26722361	26722361	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr8:26722361C>T	ENST00000380573.3	-	2	1149	c.126G>A	c.(124-126)ctG>ctA	p.L42L	ADRA1A_ENST00000380582.3_Silent_p.L42L|ADRA1A_ENST00000276393.4_Silent_p.L42L|ADRA1A_ENST00000354550.4_Silent_p.L42L|ADRA1A_ENST00000380581.2_Silent_p.L42L|ADRA1A_ENST00000380572.3_Silent_p.L42L|ADRA1A_ENST00000358857.5_Silent_p.L42L|ADRA1A_ENST00000380586.1_Silent_p.L42L|ADRA1A_ENST00000519229.1_Silent_p.L42L|ADRA1A_ENST00000380587.1_Silent_p.L42L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	42					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.L42L(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GGATGTTACCCAGCACCCCGA	0.597000													31	201					0	0	0.008361	0	0
BTBD10	84280	broad.mit.edu	37	11	13427336	13427336	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:13427336C>G	ENST00000278174.5	-	7	1121	c.876G>C	c.(874-876)atG>atC	p.M292I	BTBD10_ENST00000528120.1_Missense_Mutation_p.M244I|BTBD10_ENST00000530907.1_Missense_Mutation_p.M300I	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	292						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GAGGGAGGATCATTTCTTCCA	0.403000													14	72					0	0	0.002450	0	0
EXOC7	23265	broad.mit.edu	37	17	74094060	74094060	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:74094060C>T	ENST00000607838.1	-	5	551	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	EXOC7_ENST00000589210.1_Missense_Mutation_p.E153K|EXOC7_ENST00000335146.7_Missense_Mutation_p.E153K|EXOC7_ENST00000411744.2_Missense_Mutation_p.E153K|EXOC7_ENST00000467929.2_Missense_Mutation_p.E112K|EXOC7_ENST00000405575.4_Missense_Mutation_p.E153K|EXOC7_ENST00000332065.5_Missense_Mutation_p.E153K	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	153					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGCGAAATTCGGACTCCAGG	0.582000													5	65					0	0	0.001168	0	0
OR52K2	119774	broad.mit.edu	37	11	4471175	4471175	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:4471175C>T	ENST00000325719.4	+	1	651	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTATGGCATCGCTGTGGCCA	0.512000													13	113					0	0	0.001368	0	0
DMD	1756	broad.mit.edu	37	X	32591737	32591737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chrX:32591737C>T	ENST00000357033.4	-	15	1928	c.1722G>A	c.(1720-1722)tgG>tgA	p.W574*	DMD_ENST00000378677.2_Nonsense_Mutation_p.W570*|DMD_ENST00000288447.4_Nonsense_Mutation_p.W566*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	574					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCTGAAAGCCATGCACTAA	0.333000													10	24					0	0	0.000978	0	0
RYR2	6262	broad.mit.edu	37	1	237921059	237921059	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:237921059A>T	ENST00000366574.2	+	82	11625	c.11308A>T	c.(11308-11310)Aac>Tac	p.N3770Y	RYR2_ENST00000360064.6_Missense_Mutation_p.N3776Y|RYR2_ENST00000542537.1_Missense_Mutation_p.N3754Y|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3770					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAATGGTGGGAACTCCACAGT	0.333000													11	27					0	0	0.000978	0	0
GPC5	2262	broad.mit.edu	37	13	92345576	92345576	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr13:92345576G>T	ENST00000377067.3	+	3	833	c.461G>T	c.(460-462)gGt>gTt	p.G154V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	154						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TATTTATTTGGTGCGGATGTT	0.438000													31	63					4.15321e-07	4.88613e-07	0.001786	1	0
COL19A1	1310	broad.mit.edu	37	6	70610195	70610195	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:70610195C>G	ENST00000322773.4	+	4	333	c.231C>G	c.(229-231)ttC>ttG	p.F77L		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	77	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAACCTGTTTCAAATTGGGAA	0.269000													5	17					0	0	0.001984	0	0
RBM10	8241	broad.mit.edu	37	X	47038526	47038526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chrX:47038526C>T	ENST00000377604.3	+	8	1430	c.688C>T	c.(688-690)Cga>Tga	p.R230*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	230					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTTCAAACGCCGAGAGAAGTG	0.597000													3	6					0	0	0.000248	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	50					0	0	0.000602	0	0
THEG	51298	broad.mit.edu	37	19	367156	367156	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:367156C>T	ENST00000342640.4	-	7	864	c.822G>A	c.(820-822)ccG>ccA	p.P274P	THEG_ENST00000346878.2_Silent_p.P250P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	274					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGCCTTCGGCTTTGACA	0.572000													8	59					0	0	0.003080	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040483	103040483	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr2:103040483G>C	ENST00000264260.2	+	4	872	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	95					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGATCCATTAGAGGACATTAG	0.443000													3	40					0	0	0.004672	0	0
ITPR1	3708	broad.mit.edu	37	3	4808219	4808219	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr3:4808219C>T	ENST00000354582.6	+	44	5855	c.5505C>T	c.(5503-5505)tcC>tcT	p.S1835S	ITPR1_ENST00000423119.2_Silent_p.S1802S|ITPR1_ENST00000357086.4_Silent_p.S1802S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.S1835S|ITPR1_ENST00000456211.2_Silent_p.S1787S|ITPR1_ENST00000443694.2_Silent_p.S1835S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1850					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGCAGCACTCCTTTTTCTGTC	0.423000													6	35					0	0	0.001168	0	0
PTPN2	5771	broad.mit.edu	37	18	12817155	12817155	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr18:12817155C>G	ENST00000309660.5	-	6	798	c.705G>C	c.(703-705)ttG>ttC	p.L235F	PTPN2_ENST00000591115.1_Splice_Site_p.L258F|PTPN2_ENST00000327283.3_Splice_Site_p.L235F|PTPN2_ENST00000353319.4_Splice_Site_p.L235F|PTPN2_ENST00000591497.1_Splice_Site_p.L206F	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	235	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAGCACTTACCAAAACAAGAC	0.453000													5	72					0	0	0.001168	0	0
ABLIM2	84448	broad.mit.edu	37	4	7985015	7985015	+	Silent	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr4:7985015T>C	ENST00000318888.4	-	19	1774	c.903A>G	c.(901-903)aaA>aaG	p.K301K	ABLIM2_ENST00000505872.1_Silent_p.K514K|ABLIM2_ENST00000361581.5_Silent_p.K527K|ABLIM2_ENST00000361737.5_Silent_p.K486K|ABLIM2_ENST00000296372.8_Silent_p.K528K|ABLIM2_ENST00000546334.1_Silent_p.K486K|ABLIM2_ENST00000514025.1_Silent_p.K301K|ABLIM2_ENST00000447017.2_Silent_p.K600K|ABLIM2_ENST00000545242.1_Silent_p.K526K|ABLIM2_ENST00000407564.3_Silent_p.K476K|ABLIM2_ENST00000341937.5_Silent_p.K566K			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	566					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGTCCACGTCTTTGGGCAGTT	0.587000													3	9					0	0	0.000248	0	0
SIM1	6492	broad.mit.edu	37	6	100838955	100838955	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:100838955C>A	ENST00000369208.3	-	12	2365	c.1583G>T	c.(1582-1584)tGg>tTg	p.W528L	SIM1_ENST00000262901.4_Missense_Mutation_p.W528L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	528	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATCTTCATCCCAATGACCTCG	0.403000													11	45					0.000673444	0.000774074	0.008291	1	0
KCNH1	3756	broad.mit.edu	37	1	210857019	210857019	+	Silent	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:210857019C>G	ENST00000367007.4	-	11	2662	c.2493G>C	c.(2491-2493)tcG>tcC	p.S831S	KCNH1_ENST00000271751.4_Silent_p.S858S	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	858					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTGTCTCCATCGACTCAGCCT	0.592000													5	62					0	0	0.000602	0	0
SCN10A	6336	broad.mit.edu	37	3	38798219	38798219	+	Silent	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr3:38798219T>C	ENST00000449082.2	-	9	1235	c.1236A>G	c.(1234-1236)gaA>gaG	p.E412E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	412					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTCCTTTGCTTCAATTTCAT	0.502000													11	127					0	0	0.008291	0	0
PEX12	5193	broad.mit.edu	37	17	33904532	33904532	+	Silent	SNP	G	G	A	rs61752098		TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:33904532G>A	ENST00000225873.4	-	2	812	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	69					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTGGAGCAGAAGATCTAGC	0.403000													49	129					0	0	0.003610	0	0
SPATA22	84690	broad.mit.edu	37	17	3343560	3343560	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:3343560T>C	ENST00000573128.1	-	9	1456	c.973A>G	c.(973-975)Att>Gtt	p.I325V	SPATA22_ENST00000397168.3_Missense_Mutation_p.I325V|SPATA22_ENST00000355380.4_Missense_Mutation_p.I282V|SPATA22_ENST00000572969.1_Missense_Mutation_p.I325V|SPATA22_ENST00000268981.5_3'UTR|SPATA22_ENST00000541913.1_Missense_Mutation_p.I309V|SPATA22_ENST00000575375.1_Missense_Mutation_p.I325V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	325										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CATTGGAAAATGTTCTTTTTC	0.363000													13	49					0	0	0.001855	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559726	44559726	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr18:44559726C>T	ENST00000332567.4	-	1	2262	c.1910G>A	c.(1909-1911)aGa>aAa	p.R637K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	637	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTTGCCTCTCTGCCGTTGGG	0.542000													5	127					0	0	0.000602	0	0
CFTR	1080	broad.mit.edu	37	7	117174340	117174340	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:117174340T>C	ENST00000003084.6	+	5	632	c.500T>C	c.(499-501)cTg>cCg	p.L167P	CFTR_ENST00000454343.1_Missense_Mutation_p.L167P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	167	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACTTTAAAGCTGTCAAGCCGT	0.254000									Cystic Fibrosis				9	20					0	0	0.006214	0	0
MROH5	389690	broad.mit.edu	37	8	142506565	142506565	+	RNA	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr8:142506565T>C	ENST00000430863.1	-	0	197					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TCATGCAAGATGAGTCCTTCA	0.557000													6	33					0	0	0.003080	0	0
RPL23	9349	broad.mit.edu	37	17	37006686	37006686	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:37006686C>G	ENST00000479035.2	-	4	401	c.269G>C	c.(268-270)aGa>aCa	p.R90T	RPL23_ENST00000394333.1_Intron|RPL23_ENST00000245857.5_Missense_Mutation_p.R31T|RPL23_ENST00000577407.1_Missense_Mutation_p.R90T|RPL23_ENST00000394332.1_Missense_Mutation_p.R90T	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	90					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						GCCATCTTTTCTACGGTATGA	0.423000													14	83					0	0	0.001855	0	0
PCSK5	5125	broad.mit.edu	37	9	78686693	78686693	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr9:78686693T>G	ENST00000545128.1	+	7	1311	c.773T>G	c.(772-774)gTt>gGt	p.V258G	PCSK5_ENST00000376752.4_Missense_Mutation_p.V258G|PCSK5_ENST00000376767.3_Missense_Mutation_p.V258G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	258	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCAAAATCAGTTAGCTTCAAC	0.557000													4	146					0	0	0.000248	0	0
LDHC	3948	broad.mit.edu	37	11	18472565	18472565	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:18472565G>A	ENST00000541669.1	+	8	1001	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000280704.4_Missense_Mutation_p.R297Q|LDHC_ENST00000536880.1_Missense_Mutation_p.R283Q|LDHC_ENST00000535809.1_Silent_p.A216A|LDHC_ENST00000537486.1_Silent_p.A158A			P07864	LDHC_HUMAN	lactate dehydrogenase C	297					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.R297Q(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	GTCTTGGGGCGGAATGGTGTC	0.373000													9	73					0	0	0.004482	0	0
ZP2	7783	broad.mit.edu	37	16	21212798	21212798	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr16:21212798C>G	ENST00000574002.1	-	15	2068	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	ZP2_ENST00000574091.1_Missense_Mutation_p.R520T|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.R529T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	529	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTTTAGGACTCTCACTTCCAT	0.478000													8	76					0	0	0.003080	0	0
DGKB	1607	broad.mit.edu	37	7	14378256	14378256	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:14378256C>G	ENST00000403951.2	-	23	2428	c.2009G>C	c.(2008-2010)gGa>gCa	p.G670A	DGKB_ENST00000402815.1_Missense_Mutation_p.G669A|DGKB_ENST00000406247.3_Missense_Mutation_p.G670A|DGKB_ENST00000407950.1_Missense_Mutation_p.G662A|DGKB_ENST00000399322.3_Missense_Mutation_p.G670A|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.G651A|DGKB_ENST00000258767.5_Missense_Mutation_p.G670A			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	670					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.G670V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AAGATTGGATCCTCCATGCAT	0.403000													3	38					0	0	0.004672	0	0
CD109	135228	broad.mit.edu	37	6	74524749	74524749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:74524749C>T	ENST00000437994.2	+	30	4194	c.3763C>T	c.(3763-3765)Cga>Tga	p.R1255*	CD109_ENST00000287097.5_Nonsense_Mutation_p.R1272*|CD109_ENST00000422508.2_Nonsense_Mutation_p.R1195*	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1272						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCTAGAAGACGAAGATCTAT	0.313000													5	18					0	0	0.000602	0	0
HMCN1	83872	broad.mit.edu	37	1	186056408	186056408	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:186056408A>G	ENST00000271588.4	+	59	9335	c.9106A>G	c.(9106-9108)Ata>Gta	p.I3036V	HMCN1_ENST00000367492.2_Missense_Mutation_p.I3036V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3036	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATACACTTGTATAGCTATCAA	0.368000													3	61					0	0	0.000248	0	0
OR52A1	23538	broad.mit.edu	37	11	5172730	5172730	+	Silent	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:5172730G>C	ENST00000380367.1	-	2	1287	c.870C>G	c.(868-870)ctC>ctG	p.L290L	OR52A1_ENST00000328942.1_Silent_p.L290L			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	290					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)		CAAGTGGATTGAGAAATGGAG	0.393000													21	73					0	0	0.001523	0	0
TEKT1	83659	broad.mit.edu	37	17	6718586	6718586	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:6718586C>T	ENST00000338694.2	-	5	654	c.525G>A	c.(523-525)ttG>ttA	p.L175L	TEKT1_ENST00000535086.1_Silent_p.L29L	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	175					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACTTGTCCTTCAAATCCTTCT	0.493000													17	58					0	0	0.006122	0	0
COL4A1	1282	broad.mit.edu	37	13	110857866	110857866	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr13:110857866C>T	ENST00000375820.4	-	16	999	c.878G>A	c.(877-879)gGt>gAt	p.G293D	COL4A1_ENST00000543140.1_Missense_Mutation_p.G293D	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	293	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTTTGTCACCATCTTTTCC	0.458000													10	119					0	0	0.008291	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712558	1712558	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chrX:1712558G>T	ENST00000313871.3	+	2	399	c.203G>T	c.(202-204)cGt>cTt	p.R68L	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R68L	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	68					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TCCACGCTGCGTATTTCCAAG	0.587000													26	115					3.08376e-08	3.67115e-08	0.003330	1	0
CD180	4064	broad.mit.edu	37	5	66479677	66479677	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr5:66479677G>C	ENST00000256447.4	-	3	1151	c.994C>G	c.(994-996)Cat>Gat	p.H332D		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	332					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGATCGAAATGATTTACACTG	0.448000													5	91					0	0	0.000602	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143772	61143772	+	RNA	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr20:61143772C>T	ENST00000475015.1	-	0	566				C20orf166-AS1_ENST00000412495.1_RNA																							CCGCTGCTCTCCTGCGTCCGC	0.657000													17	86					0	0	0.006122	0	0
LMNB2	84823	broad.mit.edu	37	19	2430917	2430917	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:2430917C>T	ENST00000325327.3	-	12	1917	c.1855G>A	c.(1855-1857)Gtg>Atg	p.V619M	LMNB2_ENST00000582871.1_Missense_Mutation_p.V599M|LMNB2_ENST00000475819.1_Intron			Q03252	LMNB2_HUMAN	lamin B2	599						nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCACATCACGTAGCAGCCT	0.512000													11	21					0	0	0.003163	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548416	4548416	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:4548416G>A	ENST00000586582.1	-	13	1623	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	SEMA6B_ENST00000586965.1_Missense_Mutation_p.P438L|SEMA6B_ENST00000301293.3_Missense_Mutation_p.P438L	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	438	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCCCCAGGGGCCGGCTCC	0.667000													6	37					0	0	0.001168	0	0
DNAJC16	23341	broad.mit.edu	37	1	15890499	15890499	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:15890499G>A	ENST00000375847.3	+	10	1578	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	DNAJC16_ENST00000375838.1_Missense_Mutation_p.E472K|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.E472K	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	472					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATTGGGAGTGAGAGTGACAA	0.468000													5	135					0	0	0.001168	0	0
MUC2	4583	broad.mit.edu	37	11	1093788	1093788	+	Silent	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:1093788C>G	ENST00000441003.2	+	30	5634	c.5607C>G	c.(5605-5607)ctC>ctG	p.L1869L	MUC2_ENST00000333592.6_Silent_p.L157L|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1883						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTTCCCCTCTCACGGAGTCAA	0.617000													34	159					0	0	0.003755	0	0
GPR152	390212	broad.mit.edu	37	11	67219688	67219688	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:67219688G>A	ENST00000312457.2	-	1	512	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	170						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCAGCCTCGGGGAAGACCAGC	0.672000													5	63					0	0	0.001168	0	0
ZNF300	91975	broad.mit.edu	37	5	150275831	150275831	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr5:150275831G>A	ENST00000446148.2	-	7	1445	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	ZNF300_ENST00000418587.2_Missense_Mutation_p.P288S|ZNF300_ENST00000274599.5_Missense_Mutation_p.P324S|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.P324S	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAATCATAAGGTTTCTCCCCA	0.403000													5	62					0	0	0.001168	0	0
ZFP64	55734	broad.mit.edu	37	20	50769238	50769238	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr20:50769238T>C	ENST00000216923.4	-	6	1842	c.1493A>G	c.(1492-1494)aAa>aGa	p.K498R	ZFP64_ENST00000346617.4_Missense_Mutation_p.K444R|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.K496R	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AACGATGATTTTGACTCTTCC	0.652000													7	24					0	0	0.003080	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997329	19997329	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr18:19997329T>A	ENST00000391403.2	-	1	549	c.446A>T	c.(445-447)gAg>gTg	p.E149V		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	149						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGATTTTGACTCATCTTCTAG	0.368000													12	108					0	0	0.001368	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862774	10862774	+	RNA	SNP	G	G	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr21:10862774G>T	ENST00000559480.1	+	0	70																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGTACAGCTGGTGCAGTCTGG	0.552000													6	234					0.00116845	0.00133537	0.001168	1	0
ENTPD7	57089	broad.mit.edu	37	10	101464367	101464367	+	Missense_Mutation	SNP	G	G	A	rs150584095	by1000genomes	TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr10:101464367G>A	ENST00000370489.4	+	13	1920	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	581						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CGACAAACACGAGCCTCAGCT	0.542000													5	23					0	0	0.000602	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													4	102					0	0	0.000248	0	0
SLC45A1	50651	broad.mit.edu	37	1	8403894	8403894	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:8403894C>G	ENST00000471889.1	+	9	2453	c.2068C>G	c.(2068-2070)Ctg>Gtg	p.L690V	SLC45A1_ENST00000289877.8_Missense_Mutation_p.L690V|SLC45A1_ENST00000377479.2_Missense_Mutation_p.L724V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	690					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCAGATTCTGGTCTCCCT	0.647000													13	35					0	0	0.001368	0	0
TMC2	117532	broad.mit.edu	37	20	2591113	2591113	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr20:2591113G>A	ENST00000358864.1	+	12	1477	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	488						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCTCTGTTTGAAACCATCGC	0.498000													8	79					0	0	0.004482	0	0
NINL	22981	broad.mit.edu	37	20	25436314	25436314	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr20:25436314C>T	ENST00000278886.6	-	23	4025	c.3952G>A	c.(3952-3954)Gag>Aag	p.E1318K	NINL_ENST00000422516.1_Missense_Mutation_p.E969K|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1318					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCACCTGCTCCTTCAGCTTA	0.498000													20	145					0	0	0.008871	0	0
DLL1	28514	broad.mit.edu	37	6	170592538	170592538	+	Missense_Mutation	SNP	G	G	A	rs139409566	byFrequency	TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:170592538G>A	ENST00000366756.3	-	9	2162	c.1829C>T	c.(1828-1830)aCg>aTg	p.T610M		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	610					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTTGATCTGCGTGGCCCCGAT	0.622000													12	87					0	0	0.001368	0	0
ZNF420	147923	broad.mit.edu	37	19	37619123	37619123	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:37619123G>C	ENST00000337995.3	+	5	1445	c.1230G>C	c.(1228-1230)caG>caC	p.Q410H	ZNF420_ENST00000304239.7_Missense_Mutation_p.Q410H|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCAACATCAGAGAATACACA	0.413000													17	61					0	0	0.004990	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018971	1018971	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr4:1018971G>C	ENST00000398484.2	+	8	1931	c.1351G>C	c.(1351-1353)Ggg>Cgg	p.G451R	FGFRL1_ENST00000264748.6_Missense_Mutation_p.G451R|FGFRL1_ENST00000504138.1_Missense_Mutation_p.G451R|FGFRL1_ENST00000510644.1_Missense_Mutation_p.G451R			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	451					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGAGGAGCATGGGTCTCCGGC	0.672000													3	6					0	0	0.004672	0	0
ZNF614	80110	broad.mit.edu	37	19	52521306	52521306	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:52521306C>T	ENST00000270649.6	-	4	737	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	ZNF614_ENST00000356322.6_Missense_Mutation_p.E65K	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTCCATGGTTCTTGTCCATGT	0.403000													9	38					0	0	0.008291	0	0
TRAT1	50852	broad.mit.edu	37	3	108568095	108568095	+	Silent	SNP	T	T	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr3:108568095T>A	ENST00000295756.6	+	5	527	c.297T>A	c.(295-297)tcT>tcA	p.S99S	TRAT1_ENST00000426646.1_Silent_p.S62S	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	99					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCACCCCATCTGCACAGGTGA	0.363000													12	40					0	0	0.001368	0	0
MARCH6	10299	broad.mit.edu	37	5	10417470	10417470	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr5:10417470C>T	ENST00000274140.5	+	22	2369	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	MARCH6_ENST00000510792.1_Missense_Mutation_p.P444L|MARCH6_ENST00000503788.1_Missense_Mutation_p.P641L|MARCH6_ENST00000449913.2_Missense_Mutation_p.P698L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	746					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATTGTGGCTCCCCTGAGGGTT	0.443000													29	93					0	0	0.007291	0	0
RUFY1	80230	broad.mit.edu	37	5	178996402	178996402	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr5:178996402G>C	ENST00000377001.2	+	5	804	c.804G>C	c.(802-804)ttG>ttC	p.L268F	RUFY1_ENST00000437570.2_Missense_Mutation_p.L160F|RUFY1_ENST00000319449.4_Missense_Mutation_p.L268F|RUFY1_ENST00000393438.2_Missense_Mutation_p.L160F			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	268	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCTCTGCTTGAAAGGAGAAG	0.443000										HNSCC(44;0.11)			8	76					0	0	0.004482	0	0
PXN	5829	broad.mit.edu	37	12	120651688	120651688	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr12:120651688G>A	ENST00000397506.3	-	8	1955	c.902C>T	c.(901-903)tCa>tTa	p.S301L	PXN_ENST00000228307.7_Missense_Mutation_p.S489L|PXN_ENST00000536957.1_Missense_Mutation_p.S487L|PXN_ENST00000424649.2_Missense_Mutation_p.S455L|PXN_ENST00000458477.2_Missense_Mutation_p.S322L|PXN_ENST00000267257.7_Missense_Mutation_p.S503L|PXN_ENST00000538144.1_5'UTR			P49023	PAXI_HUMAN	paxillin	489					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTGAGGGCTGAGATATAGTT	0.617000													3	13					0	0	0.000602	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221698	56221698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr12:56221698G>A	ENST00000357606.3	-	3	1034	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.Q249*|DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.Q249*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	249					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AAGCCTGCCTGTCCAAGTTGA	0.542000													9	33					0	0	0.000978	0	0
IPO9	55705	broad.mit.edu	37	1	201844342	201844342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:201844342C>T	ENST00000361565.4	+	23	3070	c.3001C>T	c.(3001-3003)Cag>Tag	p.Q1001*		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	1001					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TCCTCTCTATCAGATTGATCT	0.483000													10	31					0	0	0.000978	0	0
DIS3L2	129563	broad.mit.edu	37	2	233028324	233028324	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr2:233028324G>T	ENST00000325385.7	+	9	1382	c.1106G>T	c.(1105-1107)aGc>aTc	p.S369I	DIS3L2_ENST00000273009.6_Missense_Mutation_p.S369I|DIS3L2_ENST00000409307.1_Missense_Mutation_p.S369I	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	369							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAGGAGTTCAGCAAGAGAAGG	0.433000													7	18					8.12818e-05	9.45138e-05	0.001984	1	0
U2AF2	11338	broad.mit.edu	37	19	56173907	56173907	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:56173907G>T	ENST00000450554.2	+	6	1485	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.G12W|U2AF2_ENST00000308924.4_Missense_Mutation_p.G176W|CTD-2537I9.12_ENST00000585940.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	176	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GATGCGCCTGGGGGGGCTGAC	0.607000													12	50					2.80697e-09	3.36165e-09	0.000978	1	0
FAT1	2195	broad.mit.edu	37	4	187521287	187521287	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr4:187521287G>C	ENST00000441802.2	-	22	12077	c.11868C>G	c.(11866-11868)atC>atG	p.I3956M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3956	Laminin G-like.				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						CCTGCTGACGGATGTGGCCAC	0.488000										HNSCC(5;0.00058)			10	59					0	0	0.008291	0	0
DNAH1	25981	broad.mit.edu	37	3	52382927	52382927	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr3:52382927C>T	ENST00000420323.2	+	13	2391	c.2130C>T	c.(2128-2130)atC>atT	p.I710I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	710	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACATCTTCATCAGCGGTGACC	0.622000													18	55					0	0	0.007413	0	0
ITGA11	22801	broad.mit.edu	37	15	68649580	68649580	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr15:68649580T>C	ENST00000423218.2	-	7	753	c.658A>G	c.(658-660)Agg>Ggg	p.R220G	ITGA11_ENST00000315757.7_Missense_Mutation_p.R220G|ITGA11_ENST00000562826.1_5'UTR			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	220	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TTTACAGACCTGTAGTCGTTG	0.498000													3	46					0	0	0.004672	0	0
ANKRD52	283373	broad.mit.edu	37	12	56646622	56646622	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr12:56646622C>T	ENST00000267116.7	-	12	1364	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	415							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTATTGATGTCAAACCCAGCT	0.512000													4	22					0	0	0.001168	0	0
UBA6	55236	broad.mit.edu	37	4	68504713	68504713	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr4:68504713C>T	ENST00000322244.5	-	19	1743	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATAATTACATCTTGTTTAGTA	0.333000													11	31					0	0	0.000978	0	0
VPS13B	157680	broad.mit.edu	37	8	100654524	100654524	+	Silent	SNP	A	A	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr8:100654524A>G	ENST00000358544.2	+	34	5892	c.5781A>G	c.(5779-5781)tcA>tcG	p.S1927S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.S1902S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1927					protein transport					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)			CCACAAGGTCATCTGCTAGAC	0.453000													28	108					0	0	0.004656	0	0
OR6K2	81448	broad.mit.edu	37	1	158669954	158669954	+	Silent	SNP	A	A	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:158669954A>G	ENST00000359610.2	-	1	532	c.489T>C	c.(487-489)tcT>tcC	p.S163S		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGGCAGTGTAGAGATCCAGG	0.483000													5	51					0	0	0.000602	0	0
FAM45B	55855	broad.mit.edu	37	X	129629691	129629691	+	RNA	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chrX:129629691C>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							TGTGGTGTATCACCCCAAGAT	0.498000													13	30					0	0	0.004007	0	0
RNF167	26001	broad.mit.edu	37	17	4848289	4848289	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:4848289C>G	ENST00000262482.6	+	10	1687	c.1031C>G	c.(1030-1032)tCt>tGt	p.S344C	RNF167_ENST00000575111.1_Missense_Mutation_p.S344C|RNF167_ENST00000571816.1_Missense_Mutation_p.S344C|RNF167_ENST00000572430.1_Missense_Mutation_p.S344C|RNF167_ENST00000576229.1_Missense_Mutation_p.S309C	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	344					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						TCCCCTCCCTCTTCCCCTGTT	0.557000													34	96					0	0	0.006999	0	0
PDE5A	8654	broad.mit.edu	37	4	120528156	120528156	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr4:120528156G>C	ENST00000354960.3	-	2	768	c.449C>G	c.(448-450)tCa>tGa	p.S150*	PDE5A_ENST00000394439.1_Nonsense_Mutation_p.S98*|PDE5A_ENST00000264805.5_Nonsense_Mutation_p.S108*	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	150					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CAAGAGTCTTGAGCACTGGTC	0.433000													9	58					0	0	0.000978	0	0
GRAMD2	196996	broad.mit.edu	37	15	72454682	72454682	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr15:72454682C>T	ENST00000309731.7	-	11	1006	c.993G>A	c.(991-993)gcG>gcA	p.A331A		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	331						integral to membrane		p.A331A(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AAATACGGAACGCCAGGTAGG	0.478000													5	37					0	0	0.000602	0	0
C19orf26	255057	broad.mit.edu	37	19	1235886	1235886	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:1235886A>G	ENST00000590083.1	-	3	429	c.137T>C	c.(136-138)gTg>gCg	p.V46A	C19orf26_ENST00000382477.2_Missense_Mutation_p.V40A|C19orf26_ENST00000215376.6_Missense_Mutation_p.V40A			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	40						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGCAGCACGTAGTTGTC	0.677000										HNSCC(14;0.022)			7	76					0	0	0.003080	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264043	140264043	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr5:140264043C>T	ENST00000289272.2	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.G730G|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGAGGGCGCGTGCGCGC	0.662000													9	73					0	0	0.001368	0	0
GABRB1	2560	broad.mit.edu	37	4	47427858	47427858	+	Silent	SNP	C	C	T	rs78444131		TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr4:47427858C>T	ENST00000295454.3	+	9	1540	c.1248C>T	c.(1246-1248)cgC>cgT	p.R416R	GABRB1_ENST00000538619.1_Silent_p.R346R	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTACGGGCGCGCCCTGGACC	0.642000													4	61					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9075291	9075291	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:9075291G>A	ENST00000397910.4	-	3	12358	c.12155C>T	c.(12154-12156)aCc>aTc	p.T4052I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4054	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTAGAGGAGGTAATTTCTGT	0.507000													7	108					0	0	0.001984	0	0
UBE3C	9690	broad.mit.edu	37	7	157000605	157000605	+	Silent	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:157000605G>A	ENST00000348165.5	+	13	2145	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	595					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AGATGGAACAGAAAAGATGGA	0.338000													13	22					0	0	0.001855	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207920	140207920	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr5:140207920G>A	ENST00000529310.1	+	1	358	c.244G>A	c.(244-246)Ggc>Agc	p.G82S	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G82S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCAGAATGGCATTTTGTT	0.632000													17	176					0	0	0.008871	0	0
ANLN	54443	broad.mit.edu	37	7	36455379	36455379	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:36455379C>G	ENST00000265748.2	+	8	1629	c.1408C>G	c.(1408-1410)Cag>Gag	p.Q470E	ANLN_ENST00000396068.2_Missense_Mutation_p.Q470E|ANLN_ENST00000495714.1_Intron	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	470	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.Q470E(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AACTCACTGTCAGAGCACTCC	0.323000													8	129					0	0	0.003080	0	0
ANO6	196527	broad.mit.edu	37	12	45695871	45695871	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr12:45695871G>C	ENST00000320560.8	+	2	347	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	ANO6_ENST00000425752.2_Missense_Mutation_p.E49Q|ANO6_ENST00000435642.1_Missense_Mutation_p.E49Q|ANO6_ENST00000426898.2_Intron|ANO6_ENST00000423947.3_Missense_Mutation_p.E70Q|ANO6_ENST00000441606.2_Missense_Mutation_p.E31Q	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	49					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCGAACCCCGGAGTTTGTGAG	0.328000													7	46					0	0	0.001984	0	0
MAP7D2	256714	broad.mit.edu	37	X	20062507	20062507	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chrX:20062507G>C	ENST00000379651.3	-	6	749	c.731C>G	c.(730-732)gCc>gGc	p.A244G	MAP7D2_ENST00000379643.5_Missense_Mutation_p.A285G|MAP7D2_ENST00000543767.1_Missense_Mutation_p.A129G|MAP7D2_ENST00000443379.3_Missense_Mutation_p.A199G|MAP7D2_ENST00000452324.3_Missense_Mutation_p.A192G	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	244										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCCTGAAAGGGCTTCTTTCCC	0.473000													9	45					0	0	0.006214	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47307997	47307997	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr22:47307997G>A	ENST00000337137.4	+	8	1094	c.928G>A	c.(928-930)Gcg>Acg	p.A310T	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.A263T|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.A263T|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.A232T|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.A251T	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	310	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GTTCATATGGGCGATCCGCCA	0.378000													21	76					0	0	0.001523	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221331	56221331	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr12:56221331G>A	ENST00000357606.3	-	3	1401	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	DNAJC14_ENST00000317269.3_Missense_Mutation_p.S371F|DNAJC14_ENST00000317287.5_Missense_Mutation_p.S371F			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	371					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAAGGCTGGAGAATCCAGCCA	0.557000													16	61					0	0	0.003163	0	0
PI16	221476	broad.mit.edu	37	6	36930790	36930790	+	Silent	SNP	A	A	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:36930790A>T	ENST00000373674.3	+	5	1000	c.672A>T	c.(670-672)gcA>gcT	p.A224A	PI16_ENST00000491324.1_3'UTR	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	224						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACTGAAGCATCAGACTCTA	0.547000													16	43					0	0	0.004007	0	0
MGAM	8972	broad.mit.edu	37	7	141756727	141756727	+	Silent	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:141756727C>G	ENST00000475668.2	+	30	3732	c.3678C>G	c.(3676-3678)acC>acG	p.T1226T	MGAM_ENST00000549489.2_Silent_p.T1226T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1226	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCTTGTCACCCAGCAGTACA	0.502000													7	22					0	0	0.003080	0	0
MRPL37	51253	broad.mit.edu	37	1	54678280	54678280	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:54678280G>A	ENST00000605337.1	+	5	987	c.939G>A	c.(937-939)atG>atA	p.M313I	MRPL37_ENST00000360840.5_Missense_Mutation_p.M313I|MRPL37_ENST00000336230.6_Missense_Mutation_p.M182I			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	313					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GGGCCAAGATGATCCTGTTTG	0.537000													31	65					0	0	0.001786	0	0
MARCH10	162333	broad.mit.edu	37	17	60813575	60813575	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:60813575G>C	ENST00000544856.2	-	7	2029	c.1651C>G	c.(1651-1653)Cag>Gag	p.Q551E	MARCH10_ENST00000456609.2_Missense_Mutation_p.Q552E|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.Q552E|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q590E			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	552							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCCTGAGGCTGGCTTGTTAAA	0.443000													12	57					0	0	0.000978	0	0
RBFA	79863	broad.mit.edu	37	18	77798511	77798511	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr18:77798511C>G	ENST00000306735.5	+	4	523	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V	RBFA_ENST00000262197.7_Missense_Mutation_p.L129V|RP11-795F19.5_ENST00000569722.1_Intron|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	129					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCAGGTTTCCCTGACTCCAGA	0.552000													4	60					0	0	0.000248	0	0
KMT2C	58508	broad.mit.edu	37	7	152008910	152008910	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:152008910C>T	ENST00000355193.2	-	5	930	c.712G>A	c.(712-714)Gat>Aat	p.D238N	KMT2C_ENST00000262189.6_Missense_Mutation_p.D238N					lysine (K)-specific methyltransferase 2C																		GCTTGGATATCAATGGCATCT	0.378000													6	57					0	0	0.001984	0	0
ZNF99	7652	broad.mit.edu	37	19	22940592	22940592	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:22940592A>G	ENST00000397104.3	-	5	1845	c.1846T>C	c.(1846-1848)Tgt>Cgt	p.C616R	ZNF99_ENST00000596209.1_Missense_Mutation_p.C707R					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTCTTCACATTTGTAGGGT	0.373000													6	52					0	0	0.003080	0	0
CFL1	1072	broad.mit.edu	37	11	65623612	65623612	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:65623612C>T	ENST00000525451.2	-	3	820	c.105G>A	c.(103-105)gcG>gcA	p.A35A	CFL1_ENST00000524553.1_Silent_p.A18A|CFL1_ENST00000527344.1_Silent_p.A18A|CFL1_ENST00000534769.1_Silent_p.A73A|CFL1_ENST00000308162.5_Silent_p.A35A|CFL1_ENST00000531413.1_Silent_p.A18A|CFL1_ENST00000531407.1_Silent_p.A18A			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	35	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		AGAAGAGCACCGCCTTCTTGC	0.567000													11	61					0	0	0.008291	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423288	47423288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:47423288G>A	ENST00000404338.3	+	1	1356	c.1356G>A	c.(1354-1356)tgG>tgA	p.W452*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	452	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.W452*(1)									GAAAGCCTTGGGAAGAGGCCC	0.418000													9	33					0	0	0.006214	0	0
MACF1	23499	broad.mit.edu	37	1	39852938	39852938	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:39852938G>T	ENST00000564288.1	+	58	15201	c.14424G>T	c.(14422-14424)tgG>tgT	p.W4808C	MACF1_ENST00000372915.3_Missense_Mutation_p.W4813C|MACF1_ENST00000317713.7_Missense_Mutation_p.W2746C|MACF1_ENST00000567887.1_Missense_Mutation_p.W4845C|MACF1_ENST00000289893.4_Missense_Mutation_p.W3248C|MACF1_ENST00000361689.2_Missense_Mutation_p.W2746C|MACF1_ENST00000545844.1_Missense_Mutation_p.W2746C|MACF1_ENST00000539005.1_Missense_Mutation_p.W2725C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4813					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGGACCTGGTTGGATGATA	0.438000													14	148					6.31663e-08	7.4753e-08	0.003163	1	0
GPR19	2842	broad.mit.edu	37	12	12815130	12815130	+	Silent	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr12:12815130G>A	ENST00000540510.1	-	2	445	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	GPR19_ENST00000332427.2_Silent_p.L85L			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	85						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AAACAAACCAGGGAATTGCCG	0.498000													7	54					0	0	0.001984	0	0
PTTG1IP	754	broad.mit.edu	37	21	46271532	46271532	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr21:46271532T>A	ENST00000330938.3	-	6	727	c.507A>T	c.(505-507)aaA>aaT	p.K169N	PTTG1IP_ENST00000445724.2_Missense_Mutation_p.K60M|PTTG1IP_ENST00000397887.3_Missense_Mutation_p.K96N|PTTG1IP_ENST00000397886.3_Missense_Mutation_p.K148N	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	169					protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		GGTTTTCTTCTTTAAACAGGC	0.428000													7	56					0	0	0.001984	0	0
FBXO43	286151	broad.mit.edu	37	8	101153077	101153077	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr8:101153077G>T	ENST00000428847.2	-	2	1721	c.1405C>A	c.(1405-1407)Caa>Aaa	p.Q469K		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	469					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CCATCCCCTTGCTCTAAGAAT	0.393000													14	198					4.93089e-13	5.97684e-13	0.002450	1	0
UBE3C	9690	broad.mit.edu	37	7	157000528	157000528	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:157000528G>C	ENST00000348165.5	+	13	2068	c.1708G>C	c.(1708-1710)Gaa>Caa	p.E570Q		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	570					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AGAAGTTCGAGAAGAATATAT	0.383000													11	43					0	0	0.008291	0	0
RBM15	64783	broad.mit.edu	37	1	110884685	110884685	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:110884685G>T	ENST00000369784.3	+	1	3558	c.2658G>T	c.(2656-2658)agG>agT	p.R886S	RBM15_ENST00000487146.2_Missense_Mutation_p.R886S|RBM15_ENST00000602849.1_Missense_Mutation_p.R886S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	886	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTACTCAGAGGCCACTTAGGA	0.547000			T	MKL1	acute megakaryocytic leukemia								29	36					8.4185e-14	1.02665e-13	0.002445	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													4	46					0	0	0.000248	0	0
RYR1	6261	broad.mit.edu	37	19	38996586	38996586	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:38996586G>A	ENST00000355481.4	+	54	8672	c.8541G>A	c.(8539-8541)caG>caA	p.Q2847Q	RYR1_ENST00000360985.3_Splice_Site_p.Q2847Q|RYR1_ENST00000359596.3_Splice_Site_p.Q2847Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2847	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAAGTGCCCAGGTGAAGGCGG	0.602000													3	21					0	0	0.004672	0	0
GIN1	54826	broad.mit.edu	37	5	102432260	102432260	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr5:102432260C>G	ENST00000399004.2	-	7	1373	c.1279G>C	c.(1279-1281)Gaa>Caa	p.E427Q	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	427					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TCACTGGATTCTCTTATGTAG	0.373000													4	112					0	0	0.000248	0	0
AARS2	57505	broad.mit.edu	37	6	44279135	44279135	+	Silent	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:44279135C>T	ENST00000244571.4	-	3	575	c.573G>A	c.(571-573)ctG>ctA	p.L191L	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	191					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACCCTAAGCTCAGCCAGATGT	0.537000													14	57					0	0	0.002450	0	0
TSIX	9383	broad.mit.edu	37	X	73045990	73045990	+	RNA	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chrX:73045990C>G	ENST00000604411.1	+	0	33951				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGGTGCTTCTCAGAAGTCTGG	0.463000													14	28					0	0	0.001855	0	0
OR10A6	390093	broad.mit.edu	37	11	7949293	7949293	+	Missense_Mutation	SNP	C	C	T	rs148940548	byFrequency	TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:7949293C>T	ENST00000309838.2	-	1	916	c.917G>A	c.(916-918)cGa>cAa	p.R306Q		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACTCGCCTTCGCCATAATTT	0.373000													9	52					0	0	0.000978	0	0
APOC2	344	broad.mit.edu	37	19	45451745	45451745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:45451745C>T	ENST00000585786.1	+	1	203	c.10C>T	c.(10-12)Cga>Tga	p.R4*	APOC2_ENST00000591597.1_Nonsense_Mutation_p.R4*|APOC4_ENST00000419266.2_3'UTR|APOC4-APOC2_ENST00000589057.1_Nonsense_Mutation_p.R81*|APOC2_ENST00000592257.1_Nonsense_Mutation_p.R4*|APOC2_ENST00000252490.4_Nonsense_Mutation_p.R4*|APOC2_ENST00000590360.1_Nonsense_Mutation_p.R4*					apolipoprotein C-II											kidney(1)|large_intestine(1)|liver(1)|lung(3)	6	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		TATGGGCACACGACTCCTCCC	0.602000													9	59					0	0	0.006214	0	0
COL10A1	1300	broad.mit.edu	37	6	116443112	116443112	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:116443112C>T	ENST00000327673.4	-	2	574	c.167G>A	c.(166-168)aGa>aAa	p.R56K	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.R56K			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	56	Nonhelical region (NC2).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TTGCTCTCCTCTTACTGCTAT	0.517000													6	90					0	0	0.001168	0	0
SEMA6B	10501	broad.mit.edu	37	19	4556965	4556965	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:4556965C>T	ENST00000586582.1	-	5	677	c.367G>A	c.(367-369)Gag>Aag	p.E123K	SEMA6B_ENST00000586965.1_Missense_Mutation_p.E123K|SEMA6B_ENST00000301293.3_Missense_Mutation_p.E123K	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	123	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACTCACCTCCTGTTTGCCC	0.637000													4	13					0	0	0.000248	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77491906	77491906	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr14:77491906T>C	ENST00000238647.3	-	1	3128	c.2230A>G	c.(2230-2232)Aga>Gga	p.R744G		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	744	Cys-rich.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ATACTCTCTCTAGAGCAAGGG	0.577000													5	34					0	0	0.000602	0	0
COL22A1	169044	broad.mit.edu	37	8	139707069	139707069	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr8:139707069C>T	ENST00000303045.6	-	33	3092	c.2646G>A	c.(2644-2646)ccG>ccA	p.P882P	COL22A1_ENST00000435777.1_Splice_Site_p.P882P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	882	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGAGACTCACCGGTTCCCCAG	0.602000										HNSCC(7;0.00092)			5	29					0	0	0.000602	0	0
ZNF578	147660	broad.mit.edu	37	19	53015214	53015214	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr19:53015214C>T	ENST00000421239.2	+	6	1824	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCACACCTTTCACGTCATCAT	0.398000													21	66					0	0	0.008871	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346760	131346760	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr9:131346760C>T	ENST00000372739.3	+	17	2503	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M	SPTAN1_ENST00000358161.5_Missense_Mutation_p.T798M|SPTAN1_ENST00000372731.4_Missense_Mutation_p.T798M	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	798					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GATGAGGAGACGTGGATTCGA	0.552000													4	18					0	0	0.000602	0	0
SF3A1	10291	broad.mit.edu	37	22	30741064	30741064	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr22:30741064G>A	ENST00000215793.8	-	4	663	c.509C>T	c.(508-510)aCg>aTg	p.T170M	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	p.T170M(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AAACTGAGCCGTCAGCTTCAC	0.542000													4	49					0	0	0.000248	0	0
ZNF777	27153	broad.mit.edu	37	7	149133866	149133866	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr7:149133866G>A	ENST00000247930.4	-	5	1462	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	380	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CAAACTTTCTGAGCCCTCGTC	0.577000													13	32					0	0	0.001855	0	0
THNSL1	79896	broad.mit.edu	37	10	25313213	25313213	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr10:25313213C>T	ENST00000524413.1	+	3	1408	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	THNSL1_ENST00000376356.4_Missense_Mutation_p.S354F			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	354					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAAGATTTGTCTTTACAGCTT	0.418000													6	55					0	0	0.001168	0	0
C9orf131	138724	broad.mit.edu	37	9	35045299	35045299	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr9:35045299G>C	ENST00000312292.5	+	2	2720	c.2673G>C	c.(2671-2673)aaG>aaC	p.K891N	C9orf131_ENST00000421362.2_Missense_Mutation_p.K843N|C9orf131_ENST00000354479.5_Missense_Mutation_p.K818N	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	891										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGAAAATGAAGGGGAAGATGG	0.557000													32	152					0	0	0.002096	0	0
MUC2	4583	broad.mit.edu	37	11	1093759	1093759	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:1093759C>G	ENST00000441003.2	+	30	5605	c.5578C>G	c.(5578-5580)Cag>Gag	p.Q1860E	MUC2_ENST00000333592.6_Missense_Mutation_p.Q148E|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1874						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTCAACCCCTCAGACCTCTCG	0.612000													38	162					0	0	0.004289	0	0
RSPH4A	345895	broad.mit.edu	37	6	116951634	116951634	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr6:116951634C>T	ENST00000229554.5	+	5	1972	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	RSPH4A_ENST00000368580.4_Missense_Mutation_p.S365F|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P567S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	612					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACACGGTTATCCTCAAATCTC	0.418000									Kartagener syndrome				12	69					0	0	0.001368	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595585	61595585	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr20:61595585G>C	ENST00000370349.3	+	9	1014	c.810G>C	c.(808-810)tgG>tgC	p.W270C	SLC17A9_ENST00000370351.4_Missense_Mutation_p.W276C|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	276					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGCAGGGCTGGATCTTCAACG	0.617000													5	249					0	0	0.001168	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634426	70634426	+	Silent	SNP	G	G	C			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr14:70634426G>C	ENST00000381269.2	-	2	1467	c.714C>G	c.(712-714)ctC>ctG	p.L238L	SLC8A3_ENST00000357887.3_Silent_p.L238L|SLC8A3_ENST00000356921.2_Silent_p.L238L|SLC8A3_ENST00000528359.1_Silent_p.L238L|SLC8A3_ENST00000534137.1_Silent_p.L238L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	238					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAAGAAGAAGAGAGTGAGGA	0.502000													6	19					0	0	0.001168	0	0
ARID1A	8289	broad.mit.edu	37	1	27101250	27101250	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr1:27101250delG	ENST00000324856.7	+	18	4903	c.4532delG	c.(4531-4533)aggfs	p.R1511fs	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.R1128fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1511					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGCCAACAGGCAGAGCACG	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	55	---	---	---	---					
CTD-2026G6.3	0	broad.mit.edu	37	3	75599221	75599223	+	RNA	DEL	CCA	CCA	-	rs111816620		TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr3:75599221_75599223delCCA	ENST00000608389.1	-	0	22																											TACCATTTTCccaccaccaccac	0.424													4	8	---	---	---	---					
CARNS1	57571	broad.mit.edu	37	11	67187285	67187285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr11:67187285delG	ENST00000445895.2	+	6	1203	c.1089delG	c.(1087-1089)cagfs	p.Q363fs	CARNS1_ENST00000531040.1_Frame_Shift_Del_p.Q363fs|CARNS1_ENST00000423745.2_Frame_Shift_Del_p.Q240fs|CARNS1_ENST00000307823.3_Frame_Shift_Del_p.Q240fs			A5YM72	CRNS1_HUMAN	carnosine synthase 1	240					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GTCGGACACAGGGTGATAGGC	0.657													2	4	---	---	---	---					
THSD4	79875	broad.mit.edu	37	15	72039219	72039220	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr15:72039219_72039220delCC	ENST00000355327.3	+	13	2213_2214	c.2079_2080delCC	c.(2077-2082)ggcctgfs	p.L694fs	THSD4_ENST00000357769.4_Frame_Shift_Del_p.L334fs|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Frame_Shift_Del_p.L694fs			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	694	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGACCTGTGGCCTGGGCATGCA	0.609													7	33	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7572977	7572980	+	Frame_Shift_Del	DEL	AGGT	AGGT	-	rs80184930		TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:7572977_7572980delAGGT	ENST00000269305.4	-	11	1318_1321	c.1129_1132delACCT	c.(1129-1134)acctccfs	p.TS377fs	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.TS377fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	377	Basic (repression of DNA-binding).|Interaction with CARM1.				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.0?(8)|p.?(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)		TTATGGCGGGAGGTAGACTGACCC	0.529		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)			8	92	---	---	---	---					
NCOR1	9611	broad.mit.edu	37	17	15974823	15974824	+	Frame_Shift_Ins	INS	-	-	TGTT			TCGA-FD-A6TK-01A-42D-A339-08	TCGA-FD-A6TK-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29ea845d-e7df-41a2-b75a-0021efd850f5	93977a19-3753-43b1-a36c-8509b727cef5	g.chr17:15974823_15974824insTGTT	ENST00000268712.3	-	30	4308_4309	c.4051_4052insAACA	c.(4051-4053)attfs	p.I1351fs	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.I1367fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1351	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATCTCATGAATGGAACGCCCC	0.446													29	99	---	---	---	---					
