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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
UBR2	23304	broad.mit.edu	37	6	42559909	42559909	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr6:42559909C>G	uc011dur.2	+	2	657	c.359C>G	c.(358-360)aCt>aGt	p.T120S	UBR2_uc003osf.3_Missense_Mutation_p.T120S	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	120					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTTGATCCAACTTGTGTTTTG	0.323000														59			10		0	0	0.000442599	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639942	94639942	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:94639942A>G	uc001dqj.4	-	22	3638	c.3269T>C	c.(3268-3270)cTa>cCa	p.L1090P	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	1090					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTTGGCAGTTAGGCTGTTTTG	0.418000														224			46		0	0	0.000147903	0	0
TMC8	147138	broad.mit.edu	37	17	76133812	76133812	+	Silent	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:76133812C>T	uc002jup.2	+	10	1648	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	TMC8_uc002juq.2_Silent_p.S199S|TMC8_uc010wtr.1_Missense_Mutation_p.R128C|TMC8_uc002jur.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	422						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GGGAGAACTCCGTGGGGGAGG	0.642000														71			12		0	0	0.000151284	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608404	112608404	+	Silent	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr2:112608404A>G	uc002thi.3	-	13	1846	c.1599T>C	c.(1597-1599)gaT>gaC	p.D533D		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TACTAACGCCATCTAGTGGAG	0.433000														84			23		0	0	0.000586117	0	0
FCGRT	2217	broad.mit.edu	37	19	50017313	50017313	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:50017313A>G	uc002pog.2	+	1	470	c.248A>G	c.(247-249)tAt>tGt	p.Y83C	FCGRT_uc002poe.2_Missense_Mutation_p.Y83C|FCGRT_uc002pof.2_5'UTR|FCGRT_uc010yax.2_Missense_Mutation_p.Y83C|FCGRT_uc002poh.2_5'Flank	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	83	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GTGTCCTGGTATTGGGAGAAA	0.582000														23			17		0	0	7.07596e-05	0	0
DENND4C	55667	broad.mit.edu	37	9	19369966	19369966	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr9:19369966C>T	uc003znq.3	+	25	4881	c.4801C>T	c.(4801-4803)Cca>Tca	p.P1601S	DENND4C_uc011lnc.2_Missense_Mutation_p.P931S|DENND4C_uc011lnd.2_Missense_Mutation_p.P889S|DENND4C_uc003znr.3_Missense_Mutation_p.P889S|DENND4C_uc003zns.3_Missense_Mutation_p.P783S	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1601						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCAAATGAAGCCAGGCATGAA	0.338000														42			8		0	0	3.86212e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41496201	41496201	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr21:41496201A>T	uc002yyq.1	-	19	4069	c.3617T>A	c.(3616-3618)tTt>tAt	p.F1206Y	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1206	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGGACACAAAGACCATGGA	0.562000														115			24		0	0	0.000375601	0	0
HDHD1	8226	broad.mit.edu	37	X	7023838	7023838	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chrX:7023838T>G	uc004crv.2	-	1	180	c.103A>C	c.(103-105)Aat>Cat	p.N35H	HDHD1_uc011mhm.1_Missense_Mutation_p.N58H|HDHD1_uc011mhn.1_Missense_Mutation_p.N35H|HDHD1_uc010ndl.2_Missense_Mutation_p.N35H|HDHD1_uc011mho.1_Missense_Mutation_p.N35H	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 1 (HDHD1), transcript variant 2, mRNA.	35					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						TCATAGCGATTACATATTTCT	0.393000														17			10		0	0	6.40141e-05	0	0
LGALS13	29124	broad.mit.edu	37	19	40095901	40095901	+	Missense_Mutation	SNP	G	T	T	rs138148689		TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:40095901G>T	uc002omb.3	+	2	216	c.176G>T	c.(175-177)gGc>gTc	p.G59V		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	59	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GTGCACTTTGGCAATCATGTG	0.498000														54			12		9.31168e-06	0.000175895	0.000151284	1	0
ALPL	249	broad.mit.edu	37	1	21902288	21902288	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:21902288G>A	uc001bet.3	+	9	1317	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	ALPL_uc010odo.2_Missense_Mutation_p.E299K|ALPL_uc010odp.2_Missense_Mutation_p.E277K|ALPL_uc010odn.2_Missense_Mutation_p.E302K|ALPL_uc001beu.4_Missense_Mutation_p.E354K	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	354			E -> D (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGAGGCGGTGGAGATGGACCG	0.612000														133			21		0	0	0.000175454	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120302543	120302543	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr11:120302543A>T	uc001pxl.2	+	10	1182	c.847A>T	c.(847-849)Aca>Tca	p.T283S	ARHGEF12_uc009zat.3_Missense_Mutation_p.T264S|ARHGEF12_uc010rzn.1_Missense_Mutation_p.T180S|ARHGEF12_uc009zau.1_Missense_Mutation_p.T180S|ARHGEF12_uc021qrm.1_Missense_Mutation_p.T264S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	283					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGAGGCAGAAACAGATCCTGG	0.473000			T	MLL	AML									52			6		0	0	8.12818e-05	0	0
TPST1	8460	broad.mit.edu	37	7	65705725	65705725	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:65705725C>A	uc003tuw.3	+	1	665	c.313C>A	c.(313-315)Ccc>Acc	p.P105T	TPST1_uc010kzy.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	105					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CAGGGTCATTCCCCGAATCCT	0.527000														54			34		2.42023e-17	5.0931e-16	0.00058488	1	0
SDHAP1	255812	broad.mit.edu	37	3	195692347	195692347	+	Missense_Mutation	SNP	G	A	A	rs62282794	by1000genomes	TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:195692347G>A	uc003fvy.3	-	2	310	c.196C>T	c.(196-198)Cac>Tac	p.H66Y	SDHAP1_uc003fvx.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		TTCCTCCAGTGCTCCTCAAAG	0.572000														14			4		0	0	8.12818e-05	0	0
FKBP4	2288	broad.mit.edu	37	12	2910312	2910312	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:2910312G>T	uc001qkz.3	+	8	1260	c.1062G>T	c.(1060-1062)aaG>aaT	p.K354N		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	354	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	ACAACGAGAAGGGCCTCTTCC	0.562000														64			26		2.79863e-10	5.68976e-09	9.22233e-05	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55324637	55324637	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:55324637C>T	uc010yfl.2	+	5	791	c.758C>T	c.(757-759)aCc>aTc	p.T253I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Intron|KIR3DL2_uc002qhi.3_Missense_Mutation_p.T238I|KIR3DL2_uc021vbn.1_Missense_Mutation_p.T255I|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Intron|KIR3DL2_uc010esd.3_Intron|KIR3DL2_uc010ese.3_Non-coding_Transcript	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	353	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ATCCTCTTTACCATCCTTCCC	0.502000														29			22		0	0	0.000375601	0	0
LGI4	163175	broad.mit.edu	37	19	35617765	35617765	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:35617765T>A	uc002nxx.2	-	6	1379	c.785A>T	c.(784-786)gAg>gTg	p.E262V	LGI4_uc002nxy.1_Missense_Mutation_p.E90V|LGI4_uc002nxz.1_Missense_Mutation_p.E90V	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	262						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCGGGCAGCTCTTCCTCGGG	0.687000														23			5		0	0	0.000602214	0	0
FAP	2191	broad.mit.edu	37	2	163074641	163074641	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr2:163074641A>T	uc002ucd.3	-	8	825	c.617T>A	c.(616-618)cTt>cAt	p.L206H	FAP_uc010zct.2_Missense_Mutation_p.L181H|FAP_uc010fpe.1_Missense_Mutation_p.L173H	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	206					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTTTGTAGCAAGCATTTCCTC	0.294000														73			12		0	0	0.000151284	0	0
ZYG11B	79699	broad.mit.edu	37	1	53262039	53262039	+	Silent	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:53262039T>C	uc001cuj.3	+	6	1605	c.1410T>C	c.(1408-1410)gcT>gcC	p.A470A	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Silent_p.A461A|ZYG11B_uc009vzh.3_5'Flank	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	470							protein binding	p.A470S(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TGGCAGTTGCTATCATTTCTA	0.433000														52			8		0	0	0.000442599	0	0
TRPC4	7223	broad.mit.edu	37	13	38237841	38237841	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr13:38237841G>T	uc010abx.3	-	5	1635	c.1400C>A	c.(1399-1401)tCa>tAa	p.S467*	TRPC4_uc010abv.3_Nonsense_Mutation_p.S47*|TRPC4_uc001uwt.3_Nonsense_Mutation_p.S467*|TRPC4_uc001uws.3_Nonsense_Mutation_p.S467*|TRPC4_uc010tey.2_Nonsense_Mutation_p.S467*|TRPC4_uc010abw.3_Nonsense_Mutation_p.S294*|TRPC4_uc010aby.3_Nonsense_Mutation_p.S467*	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	467					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.S467L(3)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CATGTCCCATGATTCTCGTGG	0.423000														25			7		2.0095e-06	3.85663e-05	8.12818e-05	1	0
GPNMB	10457	broad.mit.edu	37	7	23313792	23313792	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:23313792C>G	uc003swc.3	+	10	1829	c.1668C>G	c.(1666-1668)aaC>aaG	p.N556K	GPNMB_uc003swb.3_Missense_Mutation_p.N544K|GPNMB_uc011jyy.2_Missense_Mutation_p.N498K|GPNMB_uc011jyz.2_Missense_Mutation_p.N445K	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	556					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)			TCCCGGGAAACCAGGAAAAGG	0.428000														72			13		0	0	0.000219431	0	0
ODF2L	57489	broad.mit.edu	37	1	86851227	86851227	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:86851227G>A	uc001dll.2	-	2	522	c.160C>T	c.(160-162)Ctt>Ttt	p.L54F	ODF2L_uc001dlp.3_Missense_Mutation_p.L54F|ODF2L_uc010osg.2_Missense_Mutation_p.L54F|ODF2L_uc001dlm.2_Missense_Mutation_p.L54F|ODF2L_uc021opg.1_Intron|ODF2L_uc001dlq.2_Intron|ODF2L_uc009wcr.2_Intron	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	54						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GCTTCCTTAAGTGTTGCTTCC	0.323000														33			10		0	0	0.000442599	0	0
TEK	7010	broad.mit.edu	37	9	27197591	27197591	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr9:27197591A>G	uc011lno.2	+	10	2216	c.1774A>G	c.(1774-1776)Agt>Ggt	p.S592G	TEK_uc003zqi.4_Missense_Mutation_p.S635G|TEK_uc011lnp.2_Missense_Mutation_p.S488G|TEK_uc003zqj.1_Missense_Mutation_p.S569G|5S_rRNA_uc022bex.1_5'Flank	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	635	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTGGACCCTTAGTGACAGTAA	0.493000														24			6		0	0	8.12818e-05	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000														112			4		0	0	0.00024832	0	0
TTYH1	57348	broad.mit.edu	37	19	54937848	54937848	+	Splice_Site	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:54937848A>G	uc002qfr.3	+	5	761	c.639_splice	c.e5-2	p.R213_splice	TTYH1_uc010yey.2_Splice_Site_p.R262_splice|TTYH1_uc002qfq.3_Splice_Site_p.R213_splice|TTYH1_uc002qft.3_Splice_Site_p.R213_splice|TTYH1_uc002qfu.1_Splice_Site_p.R125_splice	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	213					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTCCCCTCCCAGGTGGCTGGC	0.652000														74			18		0	0	0.000132079	0	0
LIPE	3991	broad.mit.edu	37	19	42907053	42907053	+	Silent	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:42907053G>A	uc002otr.3	-	8	2950	c.2673C>T	c.(2671-2673)acC>acT	p.T891T	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	891					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	p.D890N(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACATCTCGGGGGTGTCCGACG	0.612000														53			16		0	0	0.000132079	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19506893	19506893	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:19506893A>G	uc001reb.3	+	19	2705	c.2597A>G	c.(2596-2598)tAt>tGt	p.Y866C	PLEKHA5_uc010sie.2_Missense_Mutation_p.Y1027C|PLEKHA5_uc001rea.3_Missense_Mutation_p.Y924C|PLEKHA5_uc009zin.3_Missense_Mutation_p.Y624C|PLEKHA5_uc010sig.2_Missense_Mutation_p.Y848C|PLEKHA5_uc010sih.1_Missense_Mutation_p.Y821C|PLEKHA5_uc021qvy.1_Missense_Mutation_p.Y855C|PLEKHA5_uc001rec.1_Missense_Mutation_p.Y675C|PLEKHA5_uc009zio.3_Missense_Mutation_p.Y132C	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	866							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAGCTTCCTATGTAACCTTG	0.368000														72			22		0	0	0.000229342	0	0
EIF4B	1975	broad.mit.edu	37	12	53416313	53416313	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:53416313G>C	uc001sbh.4	+	5	775	c.569G>C	c.(568-570)cGg>cCg	p.R190P	EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.R190P|EIF4B_uc010snv.2_Missense_Mutation_p.R151P	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	190	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GATAGAAATCGGGATTCTGAC	0.418000														77			13		0	0	0.000151284	0	0
DMP1	1758	broad.mit.edu	37	4	88584223	88584223	+	Silent	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:88584223G>A	uc003hqv.3	+	5	1397	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	DMP1_uc003hqw.3_Silent_p.E415E	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	431					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CCAGCCAGGAGGGCCTCCAGT	0.552000														37			11		0	0	3.86212e-05	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103492131	103492131	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr13:103492131C>G	uc001vpu.2	+	8	1550	c.1428C>G	c.(1426-1428)gaC>gaG	p.D476E	BIVM-ERCC5_uc001vps.3_Missense_Mutation_p.D476E|BIVM-ERCC5_uc010agc.3_Missense_Mutation_p.D254E|BIVM-ERCC5_uc001vpv.3_Missense_Mutation_p.D247E	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	447					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TCCATCAGGACTCGGCATGGA	0.468000														118			25		0	0	0.000586117	0	0
DYM	54808	broad.mit.edu	37	18	46956680	46956680	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr18:46956680T>G	uc002ldi.1	-	1	450	c.85A>C	c.(85-87)Aat>Cat	p.N29H	DYM_uc010xdf.1_Missense_Mutation_p.N29H	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	29						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AACGGGTCATTCTCAGAGATA	0.423000														112			24		0	0	0.000586117	0	0
MTMR4	9110	broad.mit.edu	37	17	56572475	56572475	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:56572475C>T	uc002iwj.2	-	15	3138	c.3028G>A	c.(3028-3030)Gat>Aat	p.D1010N		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	1010						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATCATCATCCAAATACAGA	0.512000														128			51		0	0	0.000147903	0	0
USP32P2	220594	broad.mit.edu	37	17	18422906	18422906	+	RNA	SNP	A	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:18422906A>T	uc010cqe.3	-	0		c.1661T>A			USP32P2_uc010cqf.3_Non-coding_Transcript|USP32P2_uc002gty.3_Non-coding_Transcript					Homo sapiens ubiquitin specific peptidase 32 pseudogene 2 (USP32P2), non-coding RNA.																		CTCACTGGTGAAAGCACGGAG	0.512000														41			16		0	0	0.000308642	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284668	33284668	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr6:33284668C>T	uc003oeb.3	-	1	178	c.26G>A	c.(25-27)aGt>aAt	p.S9N	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.S9N|ZBTB22_uc021ywm.1_Missense_Mutation_p.S9N	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGCTGCCCCACTGGGAGACAG	0.657000														30			9		0	0	0.000442599	0	0
TMEM69	51249	broad.mit.edu	37	1	46159260	46159260	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:46159260A>G	uc001cor.1	+	2	623	c.427A>G	c.(427-429)Atc>Gtc	p.I143V		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	Homo sapiens transmembrane protein 69 (TMEM69), mRNA.	143						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CTTGGGTGGGATCAGATGGGG	0.438000														114			25		0	0	0.000117367	0	0
DLD	1738	broad.mit.edu	37	7	107542828	107542828	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:107542828T>C	uc003vet.3	+	3	367	c.257T>C	c.(256-258)aTt>aCt	p.I86T	DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Missense_Mutation_p.I86T|DLD_uc011kmh.2_Intron|DLD_uc011kmi.2_Intron	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	86					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GTTGGTTGTATTCCTTCTAAG	0.368000														51			26		0	0	0.000147802	0	0
NME7	29922	broad.mit.edu	37	1	169102046	169102046	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:169102046A>G	uc001gfu.3	-	11	1346	c.1108T>C	c.(1108-1110)Ttc>Ctc	p.F370L	NME7_uc001gft.3_Missense_Mutation_p.F334L|NME7_uc010plq.2_Non-coding_Transcript	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	370					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					ATCTTGAAGAAGTATTGAACC	0.388000														43			5		0	0	3.59834e-05	0	0
STYK1	55359	broad.mit.edu	37	12	10780290	10780290	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:10780290G>C	uc001qys.2	-	6	1188	c.667C>G	c.(667-669)Ctc>Gtc	p.L223V		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	223	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TTTTCTGTGAGATCATAGAGA	0.398000										HNSCC(73;0.22)				40			21		0	0	0.000175454	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222677	44222677	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr6:44222677G>C	uc003oxd.3	-	3	1201	c.1065C>G	c.(1063-1065)atC>atG	p.I355M	SLC35B2_uc011dvt.2_Missense_Mutation_p.I258M|SLC35B2_uc011dvu.2_Missense_Mutation_p.I222M|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	355					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	p.I355T(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGTGTAAAAGATGAAGAGCT	0.577000														21			6		0	0	3.59834e-05	0	0
FAM134A	79137	broad.mit.edu	37	2	220047044	220047044	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr2:220047044T>C	uc002vjw.4	+	8	1461	c.1325T>C	c.(1324-1326)cTc>cCc	p.L442P	FAM134A_uc010fwc.3_Missense_Mutation_p.L235P|FAM134A_uc002vjx.3_Intron	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	442						endoplasmic reticulum|integral to membrane		p.L442V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTGGTGGCCTCACTGCTCTG	0.622000														111			30		0	0	0.00058488	0	0
ACE	1636	broad.mit.edu	37	17	61570904	61570904	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:61570904G>T	uc002jau.2	+	19	3054	c.3020G>T	c.(3019-3021)aGg>aTg	p.R1007M	ACE_uc010wpj.2_Missense_Mutation_p.R433M|ACE_uc010ddv.2_Missense_Mutation_p.R234M|ACE_uc002jav.2_Missense_Mutation_p.R433M|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.R253M	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1007	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGGCCTTGAGGGAGGGTGCC	0.582000														57			16		8.60227e-14	1.77904e-12	0.000422831	1	0
ADCY8	114	broad.mit.edu	37	8	131921969	131921969	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr8:131921969G>C	uc003ytd.4	-	5	1881	c.1625C>G	c.(1624-1626)tCt>tGt	p.S542C	ADCY8_uc010mds.3_Missense_Mutation_p.S542C	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	542					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GATTCCTCCAGATTCGAGTTT	0.463000										HNSCC(32;0.087)				206			55		0	0	0.000147903	0	0
KIAA0922	23240	broad.mit.edu	37	4	154557454	154557454	+	Splice_Site	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:154557454C>T	uc010ipp.3	+	35	4610	c.4558_splice	c.e35-1	p.P1520_splice	KIAA0922_uc003inm.4_Splice_Site_p.P1519_splice|KIAA0922_uc010ipq.3_Splice_Site_p.P1288_splice	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1519						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ATACTTCAGCCCTACCTCACA	0.413000														146			18		0	0	0.000175454	0	0
CCDC38	120935	broad.mit.edu	37	12	96273432	96273432	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:96273432G>A	uc001tek.2	-	11	1366	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	378										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTTTTATCCTGTATAACTTTT	0.368000														76			18		0	0	0.000566183	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														75			4		0	0	0.00024832	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232370	12232370	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:12232370C>T	uc001rac.3	+	1	332	c.131C>T	c.(130-132)tCa>tTa	p.S44L	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.S44L|BCL2L14_uc001rae.3_Missense_Mutation_p.S44L	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	44					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCTCTCTTCTCACCAAAGCTG	0.478000														56			8		0	0	0.000274275	0	0
TTYH3	80727	broad.mit.edu	37	7	2691878	2691878	+	Splice_Site	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:2691878T>C	uc003smp.3	+	8	1114	c.927_splice	c.e8+2	p.Q309_splice	TTYH3_uc010ksn.3_Splice_Site_p.Q29_splice|TTYH3_uc003smq.3_Splice_Site_p.Q138_splice	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	309						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TTCCAGCAGGTGAGAGCCTGG	0.657000														26			4		0	0	3.59834e-05	0	0
CRAT	1384	broad.mit.edu	37	9	131864688	131864688	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr9:131864688G>T	uc004bxh.3	-	4	903	c.621C>A	c.(619-621)caC>caA	p.H207Q	CRAT_uc004bxk.4_Missense_Mutation_p.H186Q	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	207					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCTGGTAGTTGTGTACCACGG	0.642000														99			37		5.71845e-15	1.19292e-13	0.000191422	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88943326	88943326	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr9:88943326C>G	uc004aou.3	-	10	1675	c.1537G>C	c.(1537-1539)Gac>Cac	p.D513H	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.D513H|ZCCHC6_uc004aot.3_Missense_Mutation_p.D390H|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	513					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GCAGCACTGTCAGTATGTTCC	0.408000														147			40		0	0	0.000374591	0	0
GMPPA	29926	broad.mit.edu	37	2	220370077	220370077	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr2:220370077T>C	uc002vlv.3	+	7	1123	c.748T>C	c.(748-750)Tcc>Ccc	p.S250P	GMPPA_uc002vlr.3_Missense_Mutation_p.S250P	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	250					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCAGATCAAGTCCGCAGGGTA	0.607000														77			14		0	0	0.000132079	0	0
FAM55C	91775	broad.mit.edu	37	3	101540473	101540473	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:101540473C>G	uc003dvn.3	+	7	1992	c.1355C>G	c.(1354-1356)cCt>cGt	p.P452R	FAM55C_uc010hpn.3_Missense_Mutation_p.P452R	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	452						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						AGCACCTTCCCTTTGGAAGTG	0.552000														39			9		0	0	0.000274275	0	0
ANPEP	290	broad.mit.edu	37	15	90349567	90349567	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr15:90349567T>C	uc002bop.4	-	1	540	c.248A>G	c.(247-249)gAt>gGt	p.D83G		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	83	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCGGTAGGAATCGGGTTTCAG	0.617000														56			14		0	0	0.000219431	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704507	52704507	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:52704507A>G	uc001cto.3	+	3	1590	c.1418A>G	c.(1417-1419)tAt>tGt	p.Y473C	ZFYVE9_uc001ctn.3_Missense_Mutation_p.Y473C|ZFYVE9_uc001ctp.3_Missense_Mutation_p.Y473C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	473					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCAGCAAATTATCTATCTAAT	0.378000														115			23		0	0	0.000117367	0	0
MACF1	23499	broad.mit.edu	37	1	39888512	39888512	+	Silent	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:39888512C>T	uc021olw.1	+	23	11409	c.11409C>T	c.(11407-11409)gcC>gcT	p.A3803A	MACF1_uc021ols.1_Silent_p.A3301A|MACF1_uc001cdc.2_Silent_p.A3280A|MACF1_uc021olt.1_Silent_p.A3301A|MACF1_uc001cda.1_Silent_p.A3188A	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5368					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			AGCTCATAGCCAATCAGAAAC	0.468000														98			10		0	0	3.86212e-05	0	0
ZNF143	7702	broad.mit.edu	37	11	9519250	9519250	+	Silent	SNP	T	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr11:9519250T>G	uc001mhr.3	+	9	989	c.870T>G	c.(868-870)acT>acG	p.T290T	ZNF143_uc009yfu.3_Silent_p.T289T|ZNF143_uc010rby.2_Silent_p.T259T	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	290					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACGTCAGAACTCATACAGGAG	0.328000														34			7		0	0	8.12818e-05	0	0
ATP1A2	477	broad.mit.edu	37	1	160105252	160105252	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:160105252G>A	uc001fvc.3	+	15	2276	c.2144G>A	c.(2143-2145)gGg>gAg	p.G715E	ATP1A2_uc001fvb.2_Missense_Mutation_p.G715E|ATP1A2_uc001fvd.3_Missense_Mutation_p.G451E	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	715			G -> R (in FHM2; de novo mutation in a sporadic case).		ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACGGGTGACGGGGTGAACGAC	0.602000														48			11		0	0	6.40141e-05	0	0
POLQ	10721	broad.mit.edu	37	3	121260288	121260288	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:121260288G>A	uc003eee.4	-	2	511	c.382C>T	c.(382-384)Ctt>Ttt	p.L128F		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	128	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCAAAATAAGTAATTCTGCC	0.348000								DNA polymerases (catalytic subunits)						283			60		0	0	0.000147903	0	0
GSTM1	2944	broad.mit.edu	37	1	110233169	110233169	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:110233169T>G	uc001dyk.3	+	6	628	c.550T>G	c.(550-552)Ttc>Gtc	p.F184V	GSTM1_uc001dyl.3_Intron	NM_000561	NP_000552	P09488	GSTM1_HUMAN	Homo sapiens glutathione S-transferase mu 1 (GSTM1), transcript variant 1, mRNA.	184	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TCTGAAGGACTTCATCTCCCG	0.488000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					105			62		0	0	0.000147903	0	0
DNAJC13	23317	broad.mit.edu	37	3	132207161	132207161	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:132207161C>A	uc003eor.3	+	29	3352	c.3287C>A	c.(3286-3288)cCt>cAt	p.P1096H		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1096							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCTTTGACCCTATCCTTGTT	0.348000														49			12		1.5842e-08	3.14091e-07	0.000151284	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497740	1497740	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr8:1497740T>A	uc003wpl.3	+	1	978	c.881T>A	c.(880-882)cTg>cAg	p.L294Q	DLGAP2_uc003wpm.3_Missense_Mutation_p.L294Q	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	373					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGGTCTACGCTGACGGTCAGC	0.652000														14			5		0	0	0.000602214	0	0
CBX1	10951	broad.mit.edu	37	17	46152378	46152378	+	Silent	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:46152378G>A	uc002ind.4	-	3	884	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	CBX1_uc002ine.4_Silent_p.L135L	NM_006807	NP_006798	P83916	CBX1_HUMAN	Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA.	135	Chromo 2; shadow subtype.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CATTTCATCAGGAACATGAGC	0.483000														160			44		0	0	0.000147903	0	0
STAU1	6780	broad.mit.edu	37	20	47741019	47741019	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr20:47741019T>A	uc002xud.3	-	6	1126	c.715A>T	c.(715-717)Aaa>Taa	p.K239*	STAU1_uc002xua.3_Nonsense_Mutation_p.K158*|STAU1_uc002xub.3_Nonsense_Mutation_p.K164*|STAU1_uc002xuc.3_Nonsense_Mutation_p.K158*|STAU1_uc002xue.3_Nonsense_Mutation_p.K158*|STAU1_uc002xuf.3_Nonsense_Mutation_p.K164*|STAU1_uc002xug.3_Nonsense_Mutation_p.K239*	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	239	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCGGCATTTTTCTTTGAAATC	0.483000														162			67		0	0	0.000147903	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910063	101910063	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chrX:101910063T>A	uc010nod.3	+	2	1864	c.1222T>A	c.(1222-1224)Tgg>Agg	p.W408R	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.W408R|GPRASP1_uc004ejj.4_Missense_Mutation_p.W408R|GPRASP1_uc004eji.4_Missense_Mutation_p.W408R|GPRASP1_uc022cbd.1_Missense_Mutation_p.W408R	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	408						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATTGGGACCTGGTTCTGGGC	0.562000														25			21		0	0	0.000175454	0	0
TESK2	10420	broad.mit.edu	37	1	45813333	45813333	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:45813333G>A	uc001cns.1	-	6	1059	c.656C>T	c.(655-657)tCc>tTc	p.S219F	TESK2_uc009vxr.1_Missense_Mutation_p.S219F|TESK2_uc010olo.1_Missense_Mutation_p.S136F|TESK2_uc009vxs.1_Missense_Mutation_p.S11F	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	219	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCAGAATGGGGAACCCACCAC	0.473000														110			32		0	0	0.00058488	0	0
KTN1	3895	broad.mit.edu	37	14	56079010	56079010	+	Silent	SNP	C	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr14:56079010C>A	uc001xcb.3	+	2	546	c.244C>A	c.(244-246)Cga>Aga	p.R82R	KTN1_uc001xcc.3_Silent_p.R82R|KTN1_uc001xcd.3_Silent_p.R82R|KTN1_uc001xce.3_Silent_p.R82R|KTN1_uc010trb.2_Silent_p.R82R|KTN1_uc001xcf.1_Silent_p.R82R	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	82					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAGTGTACCTCGAGACTTTAA	0.363000			T	RET	papillary thryoid									62			17		3.32936e-07	6.54683e-06	7.07596e-05	1	0
BOD1L1	259282	broad.mit.edu	37	4	13603393	13603393	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:13603393G>T	uc003gmz.1	-	9	5248	c.5131C>A	c.(5131-5133)Cag>Aag	p.Q1711K	BOD1L1_uc010idr.1_Missense_Mutation_p.Q1048K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1711							DNA binding	p.Q1711K(1)									ATATTTCCCTGGGAGCCATCC	0.428000														274			10		0.000442599	0.00823098	0.000442599	1	0
CAMK1	8536	broad.mit.edu	37	3	9801228	9801228	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:9801228T>C	uc003bst.3	-	9	1041	c.856A>G	c.(856-858)Atc>Gtc	p.I286V	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Missense_Mutation_p.I60V|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	286	Autoinhibitory domain (By similarity).				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GACTGGTGGATATTCTTATCT	0.537000														129			34		0	0	0.000191422	0	0
RAB5B	5869	broad.mit.edu	37	12	56385887	56385887	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:56385887A>T	uc001siv.3	+	5	719	c.539A>T	c.(538-540)aAg>aTg	p.K180M	RAB5B_uc001siw.3_Missense_Mutation_p.K180M|RAB5B_uc010spz.2_Missense_Mutation_p.K139M|RAB5B_uc009zog.3_Missense_Mutation_p.K120M	NM_001252036	NP_001238965	P61020	RAB5B_HUMAN	Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA.	180					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CTAGCTAAGAAGTTGCCAAAG	0.507000														60			22		0	0	0.000586117	0	0
ELN	2006	broad.mit.edu	37	7	73474279	73474279	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:73474279C>T	uc003tzw.3	+	22	1587	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	ELN_uc003tzn.3_Missense_Mutation_p.P493L|ELN_uc003tzy.3_Missense_Mutation_p.P469L|ELN_uc003tzz.3_Missense_Mutation_p.P412L|ELN_uc003tzo.3_Missense_Mutation_p.P460L|ELN_uc003tzp.3_Missense_Mutation_p.P404L|ELN_uc003tzq.3_Missense_Mutation_p.P357L|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.P474L|ELN_uc003tzt.3_Missense_Mutation_p.P498L|ELN_uc003tzu.3_Missense_Mutation_p.P479L|ELN_uc003tzv.3_Missense_Mutation_p.P464L|ELN_uc011kfe.2_Intron|ELN_uc003tzx.3_Missense_Mutation_p.P483L|ELN_uc011kff.2_Missense_Mutation_p.P493L	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	522	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGTGTGGCTCCTGGAGTTGGC	0.612000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							181			112		0	0	0.000147903	0	0
ATR	545	broad.mit.edu	37	3	142284995	142284995	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:142284995C>T	uc003eux.4	-	2	382	c.260G>A	c.(259-261)aGt>aAt	p.S87N		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	87					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGGCTTCCACTCACATTTAC	0.413000								Other conserved DNA damage response genes						69			18		0	0	9.7654e-05	0	0
SERPINB2	5055	broad.mit.edu	37	18	61562567	61562567	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr18:61562567G>T	uc010xeu.2	+	3	571	c.238G>T	c.(238-240)Ggg>Tgg	p.G80W	SERPINB2_uc002ljo.3_Missense_Mutation_p.G80W|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	80					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.G80W(2)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TACCAGCTGTGGGTTCATGCA	0.428000														134			27		2.70662e-09	5.45646e-08	0.000279167	1	0
DSCAM	1826	broad.mit.edu	37	21	41496202	41496202	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr21:41496202A>G	uc002yyq.1	-	19	4068	c.3616T>C	c.(3616-3618)Ttt>Ctt	p.F1206L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1206	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGACACAAAGACCATGGAG	0.562000														115			23		0	0	0.000295444	0	0
LIFR	3977	broad.mit.edu	37	5	38489203	38489203	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr5:38489203G>A	uc010ive.1	-	15	2644	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F	LIFR_uc003jli.2_Missense_Mutation_p.S771F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	771	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCTCATCTTAGATGTGTCTCT	0.343000			T	PLAG1	salivary adenoma									66			17		0	0	0.00047179	0	0
abParts	0	broad.mit.edu	37	14	107062360	107062360	+	RNA	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr14:107062360A>G	uc021ser.1	-	150		c.6626T>C								Parts of antibodies, mostly variable regions.																		GACAGCGCAGATGAGGGACAG	0.612000														33			3		0	0	0.00024832	0	0
WASF2	10163	broad.mit.edu	37	1	27739179	27739179	+	Silent	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:27739179A>G	uc001bof.2	-	6	936	c.711T>C	c.(709-711)tgT>tgC	p.C237C	WASF2_uc010ofl.2_Silent_p.C237C	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	237					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CGTTTTCAACACAGCCAATGC	0.488000														83			15		0	0	0.000566183	0	0
PPFIA4	8497	broad.mit.edu	37	1	203036824	203036824	+	Splice_Site	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:203036824A>G	uc009xaj.3	+	31	3426	c.3426_splice	c.e31-1	p.R1142_splice	PPFIA4_uc010pqf.2_Splice_Site_p.R724_splice|PPFIA4_uc001gyz.3_Splice_Site_p.R511_splice|PPFIA4_uc001gza.3_Splice_Site_p.R502_splice|PPFIA4_uc001gzb.1_Splice_Site_p.R197_splice|PPFIA4_uc001gzc.1_Splice_Site_p.R53_splice			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	511					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCCTGCAGAACCAGTCTTCA	0.552000														51			8		0	0	0.000157383	0	0
CNTROB	116840	broad.mit.edu	37	17	7850949	7850949	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:7850949C>A	uc002gjp.3	+	14	3004	c.2054C>A	c.(2053-2055)cCt>cAt	p.P685H	CNTROB_uc002gjq.3_Missense_Mutation_p.P685H|CNTROB_uc002gjr.3_Missense_Mutation_p.P587H	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	685	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGGCCATTCCCTGAGGAAGAT	0.562000														172			7		0.000157383	0.00294971	0.000157383	1	0
LRIT1	26103	broad.mit.edu	37	10	85997318	85997318	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr10:85997318C>T	uc001kcz.1	-	1	269	c.247G>A	c.(247-249)Ggc>Agc	p.G83S		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	83						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TCCAGGCGGCCCAGGGGCCTG	0.726000														35			9		0	0	0.000442599	0	0
TRIM56	81844	broad.mit.edu	37	7	100732355	100732355	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:100732355T>C	uc003uxq.3	+	2	1993	c.1762T>C	c.(1762-1764)Tcc>Ccc	p.S588P	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.S588P	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	588					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGAGCCTCTCCCAGGCCAG	0.697000														94			33		0	0	0.000228196	0	0
CLTC	1213	broad.mit.edu	37	17	57771125	57771125	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:57771125T>C	uc002ixr.1	+	31	5395	c.4952T>C	c.(4951-4953)gTt>gCt	p.V1651A	CLTC_uc002ixq.1_Missense_Mutation_p.V1647A	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1647	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGACCCAGTGTTGCCGTCCCT	0.557000			T	"""ALK, TFE3"""	"""ALCL, renal """									71			44		0	0	0.000147903	0	0
HGSNAT	138050	broad.mit.edu	37	8	43002092	43002092	+	Splice_Site	SNP	C	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr8:43002092C>G	uc003xpx.4	+	2	167	c.119_splice	c.e2-1	p.D40_splice		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	68	Ala-rich.				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTCTACCAGACTTAGACAAAA	0.388000														21			5		0	0	0.000602214	0	0
PIK3R2	5296	broad.mit.edu	37	19	18274091	18274091	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:18274091G>A	uc002nia.1	+	10	1821	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	437					T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TGTCAAGGAGGACAGCGTGGA	0.577000														50			10		0	0	6.40141e-05	0	0
SCD5	79966	broad.mit.edu	37	4	83557889	83557889	+	Silent	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:83557889G>C	uc003hna.2	-	3	977	c.657C>G	c.(655-657)tcC>tcG	p.S219S		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	219					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCAAGAAGTAGGAATTCCACA	0.537000														31			9		0	0	0.000274275	0	0
FGD6	55785	broad.mit.edu	37	12	95603626	95603626	+	Silent	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:95603626A>G	uc001tdp.4	-	1	1658	c.1434T>C	c.(1432-1434)ccT>ccC	p.P478P	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	478					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.P478H(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTTGCATTTGAGGGGCAGAAA	0.393000														111			3		0	0	6.4e-05	0	0
AP2B1	163	broad.mit.edu	37	17	33966737	33966737	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:33966737A>C	uc002hjr.3	+	10	1584	c.1395A>C	c.(1393-1395)ttA>ttC	p.L465F	AP2B1_uc002hjq.3_Missense_Mutation_p.L465F|AP2B1_uc010wci.2_Missense_Mutation_p.L427F|AP2B1_uc002hjs.3_Missense_Mutation_p.L408F|AP2B1_uc002hjt.3_Missense_Mutation_p.L465F|AP2B1_uc010ctv.3_Missense_Mutation_p.L465F|AP2B1_uc010wcj.2_Missense_Mutation_p.L202F	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	465					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAGATGAGTTACTAGAAAGCT	0.433000														69			22		0	0	0.000375601	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659504	144659504	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr8:144659504A>G	uc003yyo.4	-	3	528	c.503T>C	c.(502-504)aTg>aCg	p.M168T	NAPRT1_uc003yym.4_Missense_Mutation_p.M168T|NAPRT1_uc003yyn.4_Missense_Mutation_p.M168T|NAPRT1_uc011lkh.2_Missense_Mutation_p.M168T			Q6XQN6	PNCB_HUMAN	Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA.	168					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	Golgi apparatus|cytosol|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCTCAGGCCCATCTCTAGCAG	0.697000														14			3		0	0	6.4e-05	0	0
LRP1B	53353	broad.mit.edu	37	2	141762906	141762906	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr2:141762906G>T	uc002tvj.1	-	14	3473	c.2501C>A	c.(2500-2502)aCa>aAa	p.T834K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	834	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAACTTACATGTGCAAGTTGT	0.413000										TSP Lung(27;0.18)				45			11		9.31168e-06	0.000175895	0.000151284	1	0
FNIP2	57600	broad.mit.edu	37	4	159756556	159756556	+	Splice_Site	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:159756556G>A	uc003iqe.4	+	7	839	c.656_splice	c.e7-1	p.A219_splice		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	219					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTTTATCTTAGCACACAGCAC	0.383000														195			48		0	0	0.000147903	0	0
SUPT5H	6829	broad.mit.edu	37	19	39964723	39964723	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:39964723C>A	uc002olo.4	+	25	2792	c.2613C>A	c.(2611-2613)aaC>aaA	p.N871K	SUPT5H_uc002olp.4_Missense_Mutation_p.N871K|SUPT5H_uc002olq.4_Missense_Mutation_p.N867K|SUPT5H_uc002oln.4_Missense_Mutation_p.N871K|SUPT5H_uc002olr.4_Missense_Mutation_p.N871K|SUPT5H_uc002ols.1_Missense_Mutation_p.N494K	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	871	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACAGGTCAACCCACAATACA	0.647000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			9		7.48243e-07	1.45938e-05	0.000442599	1	0
ZNF473	25888	broad.mit.edu	37	19	50549983	50549983	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:50549983G>C	uc002prn.3	+	4	2520	c.2283G>C	c.(2281-2283)caG>caC	p.Q761H	ZNF473_uc002prm.3_Missense_Mutation_p.Q761H|ZNF473_uc010ybo.2_Missense_Mutation_p.Q749H	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	761					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ATGTTTGTCAGGAATGCGGGA	0.522000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			25		0	0	0.00047179	0	0
ZNF699	374879	broad.mit.edu	37	19	9406673	9406673	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:9406673G>C	uc002mlc.1	-	4	1407	c.1407C>G	c.(1405-1407)caC>caG	p.H469Q		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTTCCAGTGTGATCTCTCA	0.458000														39			6		0	0	0.000157383	0	0
USP21	27005	broad.mit.edu	37	1	161134645	161134645	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:161134645T>A	uc010pkc.2	+	11	1782	c.1405T>A	c.(1405-1407)Tcc>Acc	p.S469T	USP21_uc010pkd.2_Missense_Mutation_p.S469T|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	469					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATTTTCTGCCTCCCGAGGCTC	0.527000														62			16		0	0	0.000132079	0	0
BDP1	55814	broad.mit.edu	37	5	70837317	70837317	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr5:70837317A>T	uc003kbp.1	+	28	6322	c.6059A>T	c.(6058-6060)gAt>gTt	p.D2020V	BDP1_uc003kbo.3_Missense_Mutation_p.D2020V|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2020					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CATTCAAAGGATAAAAGCCAT	0.303000														121			26		0	0	0.000117367	0	0
GPD1L	23171	broad.mit.edu	37	3	32169609	32169609	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:32169609A>C	uc003cew.3	+	1	290	c.89A>C	c.(88-90)aAa>aCa	p.K30T		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.	30					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	NAD binding|glycerol-3-phosphate dehydrogenase|protein homodimerization activity	p.K29N(1)		large_intestine(4)|lung(7)|ovary(1)	12						AATGTCAAGAAACTTCAGAAA	0.368000														32			7		0	0	0.000274275	0	0
MCM7	4176	broad.mit.edu	37	7	99690937	99690937	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:99690937C>A	uc003usw.1	-	13	2446	c.1936G>T	c.(1936-1938)Gga>Tga	p.G646*	MCM7_uc003usv.1_Nonsense_Mutation_p.G470*|MCM7_uc003usx.1_Nonsense_Mutation_p.G470*|DD413568_uc022aif.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	646	Interaction with ATRIP.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCCTTGTCTCCTAGAAGAGAG	0.483000														235			28		1.75199e-13	3.59232e-12	0.000184323	1	0
SLC38A4	55089	broad.mit.edu	37	12	47178364	47178364	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:47178364T>A	uc001rpi.2	-	6	853	c.454A>T	c.(454-456)Att>Ttt	p.I152F	SLC38A4_uc001rpj.2_Missense_Mutation_p.I152F|SLC38A4_uc009zkl.2_Missense_Mutation_p.I152F	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	152					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AAAGCTCCAATTTTTCCCGGC	0.333000														116			22		0	0	0.00047179	0	0
SLC2A5	6518	broad.mit.edu	37	1	9097752	9097752	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:9097752T>C	uc001apo.3	-	11	1691	c.1399A>G	c.(1399-1401)Acg>Gcg	p.T467A	SLC2A5_uc010nzy.2_Missense_Mutation_p.T408A|SLC2A5_uc010nzz.2_Missense_Mutation_p.T352A|SLC2A5_uc010oaa.2_Missense_Mutation_p.T423A	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	467					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCTATGAACGTCTTGGCCTTG	0.512000														125			25		0	0	9.22233e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140864817	140864817	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr5:140864817A>G	uc003lky.2	+	0	77	c.77A>G	c.(76-78)tAc>tGc	p.Y26C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.Y26C	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	26					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGGGTTACGTTTGTGGG	0.542000														60			12		0	0	0.00010058	0	0
TNS1	7145	broad.mit.edu	37	2	218678433	218678433	+	Silent	SNP	T	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr2:218678433T>A	uc002vgt.2	-	25	4922	c.4524A>T	c.(4522-4524)ccA>ccT	p.P1508P	TNS1_uc002vgr.2_Silent_p.P1495P|TNS1_uc002vgs.2_Silent_p.P1487P|TNS1_uc002vgq.2_Silent_p.P8P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1508	SH2.					cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P1508L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCATGATGGTTGGAGGTGGCG	0.582000														69			10		0	0	0.000442599	0	0
N4BP2	55728	broad.mit.edu	37	4	40122682	40122682	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:40122682C>G	uc003guy.4	+	8	3289	c.2951C>G	c.(2950-2952)cCa>cGa	p.P984R	N4BP2_uc010ifq.3_Missense_Mutation_p.P904R|N4BP2_uc010ifr.3_Missense_Mutation_p.P904R	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	984						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AATAGTGCACCAACTGTTTCT	0.443000														39			7		0	0	0.000157383	0	0
FADS1	3992	broad.mit.edu	37	11	61578255	61578255	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr11:61578255A>C	uc010rlm.2	-	4	1011	c.883T>G	c.(883-885)Ttc>Gtc	p.F295V	FADS1_uc001nsh.3_Missense_Mutation_p.F154V|FADS1_uc010rln.1_Missense_Mutation_p.F154V	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	238					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGGCAAAGAAGAAGGGATGC	0.567000														95			22		0	0	0.000375601	0	0
GPR180	160897	broad.mit.edu	37	13	95271585	95271585	+	Splice_Site	SNP	G	A	A	rs138676753		TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr13:95271585G>A	uc001vly.3	+	4	764	c.686_splice	c.e4+1	p.S229_splice	GPR180_uc001vlz.3_Splice_Site_p.S128_splice|GPR180_uc010afi.3_Intron	NM_180989	NP_851320	Q86V85	GP180_HUMAN	Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA.	229						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATTTCTCCAGGTAACTCAAAA	0.338000														66			7		0	0	0.000274275	0	0
MET	4233	broad.mit.edu	37	7	116417457	116417457	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:116417457G>A	uc003vij.3	+	15	3461	c.3274G>A	c.(3274-3276)Gta>Ata	p.V1092I	MET_uc010lkh.3_Missense_Mutation_p.V1110I|MET_uc011knj.2_Missense_Mutation_p.V662I	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1092	Protein kinase.		V -> I (in RCCP; constitutive autophosphorylation).		axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.P1091S(1)|p.Q1029_G1105del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTTGGTTGTGTATATCATGG	0.338000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					150			18		0	0	0.000229342	0	0
PIH1D1	55011	broad.mit.edu	37	19	49950353	49950353	+	Silent	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:49950353A>G	uc002pns.2	-	6	899	c.615T>C	c.(613-615)ccT>ccC	p.P205P	BC128433_uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	Homo sapiens PIH1 domain containing 1 (PIH1D1), mRNA.	205					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GAGGCTTTTCAGGCCTGAGGA	0.607000														82			3		0	0	0.00024832	0	0
COL14A1	7373	broad.mit.edu	37	8	121170484	121170484	+	Splice_Site	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr8:121170484A>G	uc003yox.3	+	3	470	c.205_splice	c.e3+1	p.G69_splice		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	69	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCCAACTTCAGGTAAAAACA	0.353000														65			3		0	0	6.4e-05	0	0
RBBP6	5930	broad.mit.edu	37	16	24582943	24582943	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr16:24582943G>C	uc002dmh.3	+	17	5596	c.4556G>C	c.(4555-4557)aGa>aCa	p.R1519T	RBBP6_uc002dmi.3_Missense_Mutation_p.R1485T|RBBP6_uc010bxr.3_Missense_Mutation_p.R679T|RBBP6_uc002dmk.3_Missense_Mutation_p.R1352T	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1519	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGGGAAGAGAGAGATTTGCCT	0.358000														29			7		0	0	0.000157383	0	0
ABCG2	9429	broad.mit.edu	37	4	89034494	89034494	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:89034494G>C	uc003hrg.3	-	8	1648	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	ABCG2_uc003hrh.3_Missense_Mutation_p.F385L|ABCG2_uc003hrf.3_Missense_Mutation_p.F253L	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	385					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GCAAGTTTTTGAATGAACGCT	0.448000														136			29		0	0	0.000227799	0	0
OR2J3	442186	broad.mit.edu	37	6	29079815	29079815	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr6:29079815A>G	uc011dll.2	+	0	148	c.148A>G	c.(148-150)Atc>Gtc	p.I50V		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GTTCATCATCATCCTGTCATA	0.423000														184			41		0	0	0.000147903	0	0
ZNF223	7766	broad.mit.edu	37	19	44570872	44570872	+	Silent	SNP	C	T	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:44570872C>T	uc002oyf.1	+	4	1144	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GTGTGAGCTTCCGTCTTAGGT	0.448000														76			13		0	0	0.000151284	0	0
ZNF85	7639	broad.mit.edu	37	19	21132080	21132080	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:21132080G>A	uc002npg.4	+	3	908	c.760G>A	c.(760-762)Gga>Aga	p.G254R	ZNF85_uc010ecn.3_Missense_Mutation_p.G189R|ZNF85_uc010eco.3_Missense_Mutation_p.G202R|ZNF85_uc002npi.3_Missense_Mutation_p.G195R	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AATTCATACTGGAGAGAAACC	0.353000														23			8		0	0	0.000157383	0	0
MCPH1	79648	broad.mit.edu	37	8	6302563	6302563	+	Silent	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr8:6302563T>C	uc003wqi.3	+	7	1396	c.1320T>C	c.(1318-1320)gcT>gcC	p.A440A	MCPH1_uc003wqh.3_Silent_p.A440A|MCPH1_uc011kwl.2_Silent_p.A392A	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	440						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAAGCCCTGCTCAGTTGAGCT	0.403000														78			14		0	0	0.000566183	0	0
SV2B	9899	broad.mit.edu	37	15	91769497	91769497	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr15:91769497G>C	uc002bqv.3	+	2	895	c.4G>C	c.(4-6)Gat>Cat	p.D2H	SV2B_uc002bqt.3_Missense_Mutation_p.D2H|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	2					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCAAGGAATGGATGACTACAA	0.478000														24			11		0	0	6.40141e-05	0	0
ABCA4	24	broad.mit.edu	37	1	94522330	94522330	+	Silent	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:94522330A>G	uc001dqh.3	-	14	2313	c.2209T>C	c.(2209-2211)Ttg>Ctg	p.L737L	ABCA4_uc010otn.1_Intron	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	737					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAAGCCAACAAGAACAGGAAG	0.522000														10			3		0	0	6.4e-05	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53691402	53691402	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr16:53691402A>G	uc002ehp.3	-	12	1608	c.1544T>C	c.(1543-1545)aTg>aCg	p.M515T	RPGRIP1L_uc002eho.4_Missense_Mutation_p.M515T|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.M515T|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.M515T|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.M515T	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	515					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.N514K(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CATAATTAGCATGTTTCTTGT	0.313000														52			11		0	0	0.000219431	0	0
ZNF85	7639	broad.mit.edu	37	19	21132138	21132138	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:21132138T>C	uc002npg.4	+	3	966	c.818T>C	c.(817-819)cTt>cCt	p.L273P	ZNF85_uc010ecn.3_Missense_Mutation_p.L208P|ZNF85_uc010eco.3_Missense_Mutation_p.L221P|ZNF85_uc002npi.3_Missense_Mutation_p.L214P	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	273						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.L273V(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TTCTCAACTCTTACTACCCAT	0.348000														24			4		0	0	0.00024832	0	0
PLCD1	5333	broad.mit.edu	37	3	38051199	38051201	+	In_Frame_Del	DEL	TCG	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:38051199_38051201delTCG	uc003chm.3	-	8	1806_1808	c.1452_1454delCGA	c.(1450-1455)gacgag>gag	p.D484del	PLCD1_uc003chn.3_In_Frame_Del_p.D463del	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	463					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D484D(1)|p.D463D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTCAGCAGCCTCGTCTTCGTCTG	0.650													---	33	---	---	9	---					
RPL24	6152	broad.mit.edu	37	3	101401697	101401698	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:101401697_101401698insA	uc003dvh.1	-	3	289_290	c.246_247insT	c.(244-249)attactfs	p.I82fs		NM_000986	NP_000977	P83731	RL24_HUMAN	Homo sapiens ribosomal protein L24 (RPL24), mRNA.	82					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			large_intestine(1)|lung(2)|urinary_tract(1)	4						GATGCACCAGTAATGGCCCTCT	0.436													---	70	---	---	23	---					
MYH15	22989	broad.mit.edu	37	3	108107907	108107918	+	In_Frame_Del	DEL	TTCCAGTTCACG	-	-	rs143417195	by1000genomes	TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:108107907_108107918delTTCCAGTTCACG	uc003dxa.1	-	38	5551_5562	c.5494_5505delCGTGAACTGGAA	c.(5494-5505)cgtgaactggaadel	p.RELE1832del		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1832						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1832S(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCAGTTCACCTTCCAGTTCACGAACCTGCAAC	0.524													---	117	---	---	21	---					
SEC22A	26984	broad.mit.edu	37	3	122978380	122978380	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:122978380delG	uc003ege.3	+	5	746	c.667delG	c.(667-669)gatfs	p.D223fs	SEC22A_uc003egf.3_Frame_Shift_Del_p.D223fs	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog A (S. cerevisiae) (SEC22A), mRNA.	223					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GAGTGATGGTGATGATTTTAA	0.343													---	46	---	---	9	---					
SLC7A14	57709	broad.mit.edu	37	3	170201153	170201154	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:170201153_170201154insA	uc003fgz.2	-	5	1380_1381	c.1064_1065insT	c.(1063-1065)ttcfs	p.F355fs	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	355						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCGGCATCGGGAAGAGGGACCC	0.540											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	102	---	---	14	---					
ANK2	287	broad.mit.edu	37	4	114195785	114195785	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:114195785delG	uc003ibe.4	+	14	1763	c.1663delG	c.(1663-1665)gccfs	p.A555fs	ANK2_uc003ibd.4_Frame_Shift_Del_p.A534fs|ANK2_uc003ibf.4_Frame_Shift_Del_p.A555fs|ANK2_uc003ibc.2_Frame_Shift_Del_p.A531fs|ANK2_uc011cgb.1_Frame_Shift_Del_p.A570fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	555					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCAGGAGCAGCCCACTCCTT	0.517													---	57	---	---	12	---					
SYNPO	11346	broad.mit.edu	37	5	150027927	150027927	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr5:150027927delA	uc003lsn.3	+	2	1196	c.822delA	c.(820-822)ctafs	p.L274fs	SYNPO_uc021yfu.1_Frame_Shift_Del_p.L274fs|SYNPO_uc003lso.4_Frame_Shift_Del_p.L30fs|SYNPO_uc003lsp.3_Frame_Shift_Del_p.L30fs|SYNPO_uc021yfv.1_Frame_Shift_Del_p.L30fs	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	274					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTTTATCTAAAGGAGAATG	0.602													---	69	---	---	24	---					
ZFP37	7539	broad.mit.edu	37	9	115806495	115806495	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr9:115806495delG	uc011lwz.1	-	3	476	c.448delC	c.(448-450)ctcfs	p.L150fs	ZFP37_uc004bgm.1_Frame_Shift_Del_p.L135fs|ZFP37_uc011lxa.1_Frame_Shift_Del_p.L136fs	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	135						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCCCTGAGGAGTTTGTTTTGA	0.353													---	169	---	---	29	---					
ARHGAP21	57584	broad.mit.edu	37	10	24908604	24908604	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr10:24908604delT	uc001isb.2	-	8	2707	c.2220delA	c.(2218-2220)aaafs	p.K740fs	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Frame_Shift_Del_p.K740fs|ARHGAP21_uc010qdc.1_Frame_Shift_Del_p.K575fs|ARHGAP21_uc001isc.1_Frame_Shift_Del_p.K730fs	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	739					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAGATGGAGGTTTTTCCCTTA	0.453													---	131	---	---	25	---					
STOX1	219736	broad.mit.edu	37	10	70645179	70645179	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr10:70645179delT	uc001jos.2	+	2	1714	c.1627delT	c.(1627-1629)tttfs	p.F543fs	STOX1_uc001joq.3_Frame_Shift_Del_p.F433fs|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Frame_Shift_Del_p.F433fs	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	543						cytoplasm|nucleolus	DNA binding	p.I542M(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCAAGAATCTTTGATGGTAA	0.418													---	41	---	---	12	---					
STK32C	282974	broad.mit.edu	37	10	134144951	134144952	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr10:134144951_134144952insC	uc010quu.1	-	0	405_406	c.289_290insG	c.(289-291)gcgfs	p.A97fs	STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_Intron|LRRC27_uc001llf.2_5'Flank|LRRC27_uc010quv.1_5'Flank|LRRC27_uc010quw.1_5'Flank|LRRC27_uc001llg.2_5'Flank|LRRC27_uc001lli.2_5'Flank	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	Homo sapiens serine/threonine kinase 32C (STK32C), mRNA.	0	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCGTTTCCTCGCCCCCCTCACT	0.579													---	28	---	---	8	---					
GIF	2694	broad.mit.edu	37	11	59610051	59610052	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr11:59610051_59610052insG	uc001noi.3	-	3	423_424	c.375_376insC	c.(373-378)cccaacfs	p.P125fs	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	125					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GCTTCAGCGTTGGGGCCTCCGA	0.525													---	52	---	---	9	---					
GRIP1	23426	broad.mit.edu	37	12	66765625	66765625	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:66765625delA	uc001stk.3	-	21	2946	c.2705delT	c.(2704-2706)ttcfs	p.F902fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.F846fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.F669fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.F887fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.F779fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	954					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGCTCCTGGAAGCTGGCCTG	0.552													---	168	---	---	34	---					
RCBTB1	55213	broad.mit.edu	37	13	50115836	50115836	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr13:50115836delC	uc001vde.1	-	10	1561	c.1300delG	c.(1300-1302)gacfs	p.D434fs		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	434	BTB 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCGGCAGGTCGACTGTGTCT	0.458													---	71	---	---	15	---					
ADAP2	55803	broad.mit.edu	37	17	29261211	29261211	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:29261211delG	uc010csk.3	+	4	703	c.424delG	c.(424-426)gaafs	p.E142fs	ADAP2_uc002hfy.3_Frame_Shift_Del_p.E136fs|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Frame_Shift_Del_p.E136fs	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	136	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGGTAACCGAGAAGGATTCCT	0.478													---	50	---	---	10	---					
INTS2	57508	broad.mit.edu	37	17	59945081	59945082	+	In_Frame_Ins	INS	-	GAA	GAA			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:59945081_59945082insGAA	uc002izn.3	-	24	3527_3528	c.3451_3452insTTC	c.(3451-3453)caa>cTTCaa	p.1150_1151insL	INTS2_uc002izm.3_In_Frame_Ins_p.1142_1143insL	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	1150					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CTTTATTTGTTGAAGACCTACA	0.351													---	105	---	---	27	---					
BAIAP2	10458	broad.mit.edu	37	17	79082274	79082274	+	Splice_Site	DEL	G	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:79082274delG	uc002jzg.2	+	13	1609	c.1501_splice	c.e13-1	p.G501_splice	BAIAP2_uc002jyz.4_Splice_Site_p.G501_splice|BAIAP2_uc002jza.2_Splice_Site_p.G501_splice|BAIAP2_uc002jzc.2_Splice_Site_p.G502_splice|BAIAP2_uc002jzb.2_Splice_Site_p.G258_splice|BAIAP2_uc010wuh.1_Splice_Site_p.G423_splice|BAIAP2_uc002jzd.2_Splice_Site_p.G501_splice|BAIAP2_uc002jzf.2_Splice_Site_p.G501_splice|BAIAP2_uc002jze.2_Splice_Site_p.G534_splice|BAIAP2_uc002jzh.2_Splice_Site_p.G502_splice|BAIAP2_uc010wui.2_Splice_Site_p.G364_splice	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	501					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCTGCCCCCAGGGCCTGGATG	0.637													---	44	---	---	12	---					
SOCS6	9306	broad.mit.edu	37	18	67992496	67992496	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr18:67992496delA	uc002lkr.1	+	1	908	c.592delA	c.(592-594)aatfs	p.N198fs	SOCS6_uc010dqq.2_Frame_Shift_Del_p.N198fs|SOCS6_uc021ulj.1_Frame_Shift_Del_p.N198fs	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	198					JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGCTTCTCATAATGGAGACCT	0.512													---	101	---	---	28	---					
BCR	613	broad.mit.edu	37	22	23523615	23523616	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr22:23523615_23523616insA	uc002zww.3	+	0	1064_1065	c.468_469insA	c.(466-471)tccaacfs	p.S156fs	BCR_uc002zwx.3_Frame_Shift_Ins_p.S156fs	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	156	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGCTCAGGTCCAACTTCGAGCG	0.738			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								---	66	---	---	20	---					
