Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYO18B	84700	broad.mit.edu	37	22	26343789	26343789	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:26343789G>C	ENST00000335473.7	+	36	5993	c.5743G>C	c.(5743-5745)Gct>Cct	p.A1915P	MYO18B_ENST00000536101.1_Missense_Mutation_p.A1915P|MYO18B_ENST00000407587.2_Missense_Mutation_p.A1916P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1915	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCTCATTGCTCAGGTAGT	0.537000													7	19					0	0	0.307466	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648790	62648790	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:62648790C>T	ENST00000337910.5	-	6	973	c.636G>A	c.(634-636)agG>agA	p.R212R	RHOBTB1_ENST00000357917.4_Silent_p.R212R	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	212					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATTGCAGGTGCCTGCGGGAAA	0.473000													47	174					0	0	0.870114	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131322	38131322	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:38131322C>G	ENST00000406386.3	+	9	5234	c.4979C>G	c.(4978-4980)aCc>aGc	p.T1660S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1660					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTGCCTGCACCTCCACCCAG	0.677000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	28					0	0	0.361761	0	0
IFIH1	64135	broad.mit.edu	37	2	163167287	163167287	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:163167287C>G	ENST00000263642.2	-	2	1005	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q	IFIH1_ENST00000421365.2_Missense_Mutation_p.E204Q	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	204					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GCATTGCTTTCTGAGCAATCA	0.373000													12	24					0	0	0.411799	0	0
ORAOV1	220064	broad.mit.edu	37	11	69486560	69486560	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:69486560C>G	ENST00000279147.4	-	3	291	c.184G>C	c.(184-186)Gca>Cca	p.A62P	ORAOV1_ENST00000542341.1_Missense_Mutation_p.A62P|ORAOV1_ENST00000539414.1_Missense_Mutation_p.A62P|ORAOV1_ENST00000535657.1_Missense_Mutation_p.A62P|ORAOV1_ENST00000536870.1_Intron	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	62										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CATTTCCATGCAAAAGCAAAA	0.403000													15	413					0	0	0.539581	0	0
IFNA8	3445	broad.mit.edu	37	9	21409439	21409439	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:21409439C>G	ENST00000380205.1	+	1	294	c.264C>G	c.(262-264)ttC>ttG	p.F88L		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	88					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AGCAGACCTTCAACCTCTTCA	0.473000													29	143					0	0	0.760397	0	0
VWF	7450	broad.mit.edu	37	12	6091103	6091103	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:6091103C>T	ENST00000261405.5	-	42	7390	c.7136G>A	c.(7135-7137)cGt>cAt	p.R2379H		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2379					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTGGGCAAACGGTGCGGGGG	0.612000													16	66					0	0	0.539581	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452474	130452474	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:130452474G>C	ENST00000356763.3	-	4	1925	c.1368C>G	c.(1366-1368)atC>atG	p.I456M		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	456					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GATAAATATTGATATCATTAC	0.448000													12	40					0	0	0.411799	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526080	109526080	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:109526080G>T	ENST00000429722.2	-	4	1080	c.717C>A	c.(715-717)ccC>ccA	p.P239P	ALKBH2_ENST00000440112.2_3'UTR|ALKBH2_ENST00000343075.3_Silent_p.P239P	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	239	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P239P(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TCTTTCTCACGGGAAGACTGT	0.483000								Direct reversal of damage					4	138					0.00909568	0.00926795	0.150653	1	0
STAB1	23166	broad.mit.edu	37	3	52539121	52539121	+	Silent	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:52539121C>A	ENST00000321725.6	+	13	1556	c.1480C>A	c.(1480-1482)Cgg>Agg	p.R494R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	494	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACTGGCCTGCGGTGGCAGGC	0.597000													23	94					9.04412e-07	9.42972e-07	0.681144	1	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													3	75					0	0	0.115264	0	0
RBM34	23029	broad.mit.edu	37	1	235324512	235324512	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:235324512C>G	ENST00000408888.3	-	1	260	c.30G>C	c.(28-30)aaG>aaC	p.K10N	RBM34_ENST00000366606.3_Missense_Mutation_p.K5N			P42696	RBM34_HUMAN	RNA binding motif protein 34	10						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTCTCTTTCTCTTCCGTTTGC	0.622000													60	116					0	0	0.870114	0	0
MUC4	4585	broad.mit.edu	37	3	195501148	195501148	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:195501148G>A	ENST00000463781.3	-	4	13431	c.12972C>T	c.(12970-12972)ggC>ggT	p.G4324G	MUC4_ENST00000475231.1_Silent_p.G4324G|MUC4_ENST00000349607.4_Silent_p.G37G|MUC4_ENST00000346145.4_Silent_p.G88G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1081					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTCCCCGGCGCCTGCCCCAT	0.627000													26	32					0	0	0.769981	0	0
ANO1	55107	broad.mit.edu	37	11	70031712	70031712	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:70031712G>C	ENST00000355303.5	+	25	2910	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.E869Q|ANO1_ENST00000531349.1_Missense_Mutation_p.E578Q|ANO1_ENST00000530676.1_Missense_Mutation_p.E723Q|ANO1_ENST00000398543.2_Missense_Mutation_p.E723Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	869					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGACTACCGAGAGCCGCCGTG	0.617000													15	220					0	0	0.457914	0	0
VSIG2	23584	broad.mit.edu	37	11	124618357	124618357	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:124618357C>T	ENST00000403470.1	-	6	835	c.780G>A	c.(778-780)gcG>gcA	p.A260A	VSIG2_ENST00000326621.5_Silent_p.A260A			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	260						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CCAGGCAGAACGCAGCAACTG	0.607000													33	48					0	0	0.788014	0	0
CNGB1	1258	broad.mit.edu	37	16	57953078	57953078	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:57953078C>T	ENST00000564448.1	-	20	1924	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	CNGB1_ENST00000251102.8_Missense_Mutation_p.D628N			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	628					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGAGCATGTCGCAATAGTGC	0.577000													19	37					0	0	0.624587	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313378	1313378	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:1313378G>A	ENST00000296839.2	+	1	704	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	147					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGAGATCAACGAGTACCTCAT	0.637000													8	38					0	0	0.307466	0	0
CHSY1	22856	broad.mit.edu	37	15	101791398	101791398	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:101791398G>A	ENST00000254190.3	-	1	739	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	88					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGACTCCCACGAAGAGAAAGT	0.736000													5	8					0	0	0.248553	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589592	67589592	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:67589592A>G	ENST00000521381.1	+	11	1971	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	PIK3R1_ENST00000521657.1_Missense_Mutation_p.Y452C|PIK3R1_ENST00000274335.5_Missense_Mutation_p.Y452C|PIK3R1_ENST00000396611.1_Missense_Mutation_p.Y452C|PIK3R1_ENST00000320694.8_Missense_Mutation_p.Y152C|PIK3R1_ENST00000336483.5_Missense_Mutation_p.Y182C|PIK3R1_ENST00000523872.1_Missense_Mutation_p.Y89C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	452					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G446_Y452>VI(1)|p.Y452_Q455>SGGSRIK(1)|p.?(1)|p.0?(1)|p.E451_Y452del(1)|p.N453_T454insN(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTACATGAATATAACACTCAG	0.279000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			19	45					0	0	0.539581	0	0
ZNF550	162972	broad.mit.edu	37	19	58067717	58067717	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:58067717C>T	ENST00000325134.5	-	2	192	c.36G>A	c.(34-36)gtG>gtA	p.V12V	ZNF550_ENST00000601415.1_Silent_p.V12V|ZNF549_ENST00000602149.1_3'UTR|ZNF550_ENST00000506609.2_Silent_p.V3V|ZNF550_ENST00000457177.1_Silent_p.V12V			Q7Z398	ZN550_HUMAN	zinc finger protein 550	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTGAAGGTCACCAACATCT	0.522000													22	108					0	0	0.608945	0	0
ZNF713	349075	broad.mit.edu	37	7	55980391	55980391	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:55980391A>T	ENST00000429591.2	+	1	61	c.23A>T	c.(22-24)gAt>gTt	p.D8V	MRPS17_ENST00000426595.1_Missense_Mutation_p.D8V|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAATGAATGATGGCTCACAG	0.408000													15	18					0	0	0.479597	0	0
PMP2	5375	broad.mit.edu	37	8	82357103	82357103	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:82357103G>C	ENST00000256103.2	-	2	331	c.195C>G	c.(193-195)ttC>ttG	p.F65L	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Intron	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	65						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GGCCTAGCTTGAAGGAGATTT	0.393000													17	101					0	0	0.557998	0	0
DHX30	22907	broad.mit.edu	37	3	47889747	47889747	+	Silent	SNP	C	C	T	rs147501030		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47889747C>T	ENST00000446256.2	+	16	2819	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S	DHX30_ENST00000348968.4_Silent_p.S760S|DHX30_ENST00000457607.1_Silent_p.S816S|DHX30_ENST00000445061.1_Silent_p.S788S	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	788	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		gcTGCCAGTCCGGCTTTGCCT	0.612000													12	38					0	0	0.411799	0	0
SBF1	6305	broad.mit.edu	37	22	50886980	50886980	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:50886980C>G	ENST00000380817.2	-	37	5326	c.5143G>C	c.(5143-5145)Gac>Cac	p.D1715H	SBF1_ENST00000390679.3_Missense_Mutation_p.D1689H|SBF1_ENST00000348911.6_Missense_Mutation_p.D1690H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1689					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACACGGCCGTCTGGCCGGCCC	0.662000													4	31					0	0	0.217242	0	0
CSPG5	10675	broad.mit.edu	37	3	47618627	47618627	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47618627C>T	ENST00000383738.2	-	2	2987	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CSPG5_ENST00000264723.4_Missense_Mutation_p.E297K|CSPG5_ENST00000456150.1_Missense_Mutation_p.E159K	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	297	Interaction with TNC and TNR (By similarity).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCTCATTTTCATCTTCTAGG	0.552000													7	25					0	0	0.248553	0	0
TTN	7273	broad.mit.edu	37	2	179418418	179418418	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:179418418C>G	ENST00000589042.1	-	334	89538	c.89314G>C	c.(89314-89316)Gag>Cag	p.E29772Q	TTN_ENST00000460472.2_Missense_Mutation_p.E20707Q|TTN_ENST00000342992.6_Missense_Mutation_p.E27204Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20832Q|TTN_ENST00000342175.6_Missense_Mutation_p.E20899Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28131Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28131	Fibronectin type-III 117.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCTTATCTCGACAACATAC	0.463000													11	62					0	0	0.387290	0	0
RGS20	8601	broad.mit.edu	37	8	54866744	54866744	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:54866744C>A	ENST00000297313.3	+	5	944	c.852C>A	c.(850-852)ttC>ttA	p.F284L	RGS20_ENST00000344277.6_Missense_Mutation_p.F169L|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_Missense_Mutation_p.F18L|RGS20_ENST00000276500.4_Missense_Mutation_p.F137L	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	284	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAACAGAATTCAGTGAGGAAA	0.413000													17	99					1.99824e-07	2.09154e-07	0.520397	1	0
MS4A3	932	broad.mit.edu	37	11	59828723	59828723	+	Silent	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:59828723T>C	ENST00000278865.3	+	2	163	c.90T>C	c.(88-90)aaT>aaC	p.N30N	MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Silent_p.N30N|MS4A3_ENST00000534744.1_Silent_p.N30N	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	30						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				AAGAGCTGAATACTTCTGTCT	0.478000													35	58					0	0	0.796494	0	0
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438000													39	135					0	0	0.834066	0	0
ZNF610	162963	broad.mit.edu	37	19	52869339	52869339	+	Silent	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:52869339A>G	ENST00000601151.1	+	5	1031	c.579A>G	c.(577-579)gaA>gaG	p.E193E	ZNF610_ENST00000327920.8_Silent_p.E236E|ZNF610_ENST00000403906.3_Silent_p.E236E|ZNF610_ENST00000321287.8_Silent_p.E236E	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AATGTACTGAATGTGGCAAGG	0.388000													10	31					0	0	0.335167	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463486	241463486	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:241463486G>C	ENST00000391987.1	-	8	1747	c.1381C>G	c.(1381-1383)Ctg>Gtg	p.L461V	ANKMY1_ENST00000536462.1_Missense_Mutation_p.L273V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.L550V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.L320V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.L320V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.L399V|ANKMY1_ENST00000272972.3_Missense_Mutation_p.L461V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.L231V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.L320V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.L231V|ANKMY1_ENST00000406958.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	461							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCACTGCACAGACTGCCCCGG	0.597000													16	69					0	0	0.539581	0	0
CHST8	64377	broad.mit.edu	37	19	34263838	34263838	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:34263838G>A	ENST00000262622.3	+	4	1903	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	CHST8_ENST00000438847.2_Missense_Mutation_p.R382Q|CHST8_ENST00000434302.1_Missense_Mutation_p.R382Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	382					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CAGGAGGCGCGGACCACAGCG	0.612000													5	30					0	0	0.184627	0	0
ZIC2	7546	broad.mit.edu	37	13	100635121	100635121	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:100635121A>G	ENST00000376335.3	+	1	1096	c.803A>G	c.(802-804)aAt>aGt	p.N268S		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	268					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAACTGAGCAATCCCAAGAAG	0.587000													24	92					0	0	0.654019	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560208	10560208	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:10560208G>A	ENST00000381765.3	+	4	851	c.325G>A	c.(325-327)Gac>Aac	p.D109N	HPCAL1_ENST00000307845.3_Missense_Mutation_p.D109N	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	109	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CAGCATGTACGACCTGGACGG	0.667000													13	46					0	0	0.457914	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526661	234526661	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:234526661G>A	ENST00000373450.4	+	1	371	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCACAAGTACGAAGTTTGTTT	0.383000													35	94					0	0	0.779181	0	0
MYH13	8735	broad.mit.edu	37	17	10233795	10233795	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:10233795C>T	ENST00000418404.3	-	20	2507	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.D782N|MYH13_ENST00000252172.4_Missense_Mutation_p.D782N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	782	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCTTCTCATCTCTCATCTCC	0.542000													7	20					0	0	0.307466	0	0
RAF1	5894	broad.mit.edu	37	3	12626379	12626379	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:12626379C>T	ENST00000251849.4	-	16	2209	c.1770G>A	c.(1768-1770)aaG>aaA	p.K590K	RAF1_ENST00000542177.1_Silent_p.K509K|RAF1_ENST00000534997.1_Silent_p.K375K|RAF1_ENST00000442415.2_Silent_p.K610K	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	590	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CCTTTACTTTCTTCACACAGT	0.463000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				24	71					0	0	0.693898	0	0
MUC13	56667	broad.mit.edu	37	3	124641076	124641076	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:124641076A>G	ENST00000311075.3	-	4	747	c.709T>C	c.(709-711)Tat>Cat	p.Y237H		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	237	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AAGTCTTGATAGGCCATGGAA	0.378000													7	36					0	0	0.278610	0	0
MGAM	8972	broad.mit.edu	37	7	141795497	141795497	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:141795497C>T	ENST00000475668.2	+	64	7645	c.7591C>T	c.(7591-7593)Cgg>Tgg	p.R2531W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1635W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.468000													71	159					0	0	0.870114	0	0
MCUR1	63933	broad.mit.edu	37	6	13792146	13792146	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:13792146C>G	ENST00000379170.4	-	8	1126	c.988G>C	c.(988-990)Gag>Cag	p.E330Q		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		TTGTGTGACTCAAGCATGGTT	0.363000													14	59					0	0	0.479597	0	0
ANO4	121601	broad.mit.edu	37	12	101510524	101510524	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:101510524G>A	ENST00000392979.3	+	24	2774	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	ANO4_ENST00000550015.1_Missense_Mutation_p.E360K|ANO4_ENST00000299222.9_Missense_Mutation_p.E360K|ANO4_ENST00000392977.3_Missense_Mutation_p.E840K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	840						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACCGATCTGAGCCTGAATC	0.512000										HNSCC(74;0.22)			23	93					0	0	0.639603	0	0
KCNS2	3788	broad.mit.edu	37	8	99441238	99441238	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:99441238C>T	ENST00000287042.4	+	2	1381	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	KCNS2_ENST00000521839.1_Missense_Mutation_p.S344F	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	344						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCCATCTTCTCCGTGGTGGCC	0.582000													16	91					0	0	0.557998	0	0
CLIP2	7461	broad.mit.edu	37	7	73771712	73771712	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:73771712G>A	ENST00000223398.6	+	6	1447	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	CLIP2_ENST00000395060.1_Missense_Mutation_p.E374K|CLIP2_ENST00000361545.5_Missense_Mutation_p.E374K	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	374						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCTGCTGGCTGAACGAGACCT	0.612000													5	17					0	0	0.217242	0	0
SUSD1	64420	broad.mit.edu	37	9	114820851	114820851	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:114820851C>T	ENST00000374270.3	-	14	2138	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	SUSD1_ENST00000374263.3_Missense_Mutation_p.E656K|SUSD1_ENST00000374264.2_Missense_Mutation_p.E656K	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	656						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCCAGTAGTTCTGCAGCCACG	0.483000													30	110					0	0	0.769981	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296332	39296332	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:39296332C>T	ENST00000345847.4	-	1	407	c.408G>A	c.(406-408)caG>caA	p.Q136Q		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	132	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						agcagGTTGGCTGGCAGCACA	0.672000													7	41					0	0	0.278610	0	0
FLT3LG	2323	broad.mit.edu	37	19	49979010	49979010	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:49979010C>G	ENST00000594009.1	+	2	175	c.96C>G	c.(94-96)ttC>ttG	p.F32L	FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_Missense_Mutation_p.F32L|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_Missense_Mutation_p.F32L|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000596435.1_Missense_Mutation_p.F32L|FLT3LG_ENST00000344019.3_Missense_Mutation_p.F32L	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	32					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACTGCTCCTTCCAACACAGCC	0.642000													13	41					0	0	0.479597	0	0
DNM2	1785	broad.mit.edu	37	19	10883279	10883279	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:10883279C>G	ENST00000314646.5	+	3	524	c.360C>G	c.(358-360)atC>atG	p.I120M	DNM2_ENST00000585892.1_Missense_Mutation_p.I120M|DNM2_ENST00000408974.4_Missense_Mutation_p.I120M|DNM2_ENST00000389253.4_Missense_Mutation_p.I120M|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000359692.6_Missense_Mutation_p.I120M|DNM2_ENST00000355667.6_Missense_Mutation_p.I120M			P50570	DYN2_HUMAN	dynamin 2	120					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAGTGCCCATCAACCTTCGAG	0.552000			"""F, N, Splice, Mis, O"""		ETP ALL								11	40					0	0	0.361761	0	0
YBX2	51087	broad.mit.edu	37	17	7192918	7192918	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7192918G>A	ENST00000007699.5	-	7	1038	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	325	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GTCTCCGCTGGAAGTAGGGGC	0.677000													10	37					0	0	0.335167	0	0
DENND6A	201627	broad.mit.edu	37	3	57619070	57619070	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:57619070C>G	ENST00000311128.5	-	15	1345	c.1275G>C	c.(1273-1275)caG>caC	p.Q425H	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		AAGGACGTTTCTGTTGTACAC	0.299000													16	53					0	0	0.520397	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269432	30269432	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:30269432G>A	ENST00000378981.3	+	4	1143	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAGEB1_ENST00000397548.2_Silent_p.P274P|MAGEB1_ENST00000397550.1_Silent_p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TATGGGGTCCGAGAGCCTATG	0.502000													19	90					0	0	0.539581	0	0
CCDC34	91057	broad.mit.edu	37	11	27362349	27362349	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:27362349C>G	ENST00000328697.6	-	5	1474	c.801G>C	c.(799-801)gaG>gaC	p.E267D	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	267										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TTTCCTTTTTCTCCTGTATTT	0.343000													16	46					0	0	0.479597	0	0
HMCN1	83872	broad.mit.edu	37	1	186084057	186084057	+	Nonsense_Mutation	SNP	C	C	T	rs150673369		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:186084057C>T	ENST00000271588.4	+	74	11612	c.11383C>T	c.(11383-11385)Cga>Tga	p.R3795*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R3795*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3795	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R3795*(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATCGCAGGCGAATAGATTT	0.423000													7	154					0	0	0.248553	0	0
MYO7A	4647	broad.mit.edu	37	11	76872097	76872097	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:76872097A>T	ENST00000409709.3	+	12	1551	c.1279A>T	c.(1279-1281)Aag>Tag	p.K427*	MYO7A_ENST00000458637.2_Nonsense_Mutation_p.K427*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.K427*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.K416*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	427	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCAGGATGTGAAGAACTCTCG	0.542000													8	20					0	0	0.278610	0	0
SULT2A1	6822	broad.mit.edu	37	19	48389471	48389471	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:48389471G>A	ENST00000222002.3	-	1	183	c.44C>T	c.(43-45)aCt>aTt	p.T15I		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GAAACCCATAGTAGGGAAAGC	0.443000													6	124					0	0	0.248553	0	0
CSPG5	10675	broad.mit.edu	37	3	47618876	47618876	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47618876C>T	ENST00000383738.2	-	2	2738	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	CSPG5_ENST00000264723.4_Missense_Mutation_p.E214K|CSPG5_ENST00000456150.1_Missense_Mutation_p.E76K	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	214					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCAGTCCTTCGAAGTAGTCG	0.592000													13	41					0	0	0.435327	0	0
FAM41C	284593	broad.mit.edu	37	1	809700	809700	+	RNA	SNP	G	G	C	rs114598413	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:809700G>C	ENST00000446136.1	-	0	993					NR_027055.1																						GGAGGAGTTTGAGGAGTATGC	0.498000													80	86					0	0	0.870114	0	0
YBX2	51087	broad.mit.edu	37	17	7192917	7192917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7192917G>A	ENST00000007699.5	-	7	1039	c.976C>T	c.(976-978)Cag>Tag	p.Q326*		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	326	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CGTCTCCGCTGGAAGTAGGGG	0.682000													10	36					0	0	0.335167	0	0
ATRX	546	broad.mit.edu	37	X	76944323	76944323	+	Silent	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:76944323A>T	ENST00000373344.5	-	7	796	c.582T>A	c.(580-582)gtT>gtA	p.V194V	ATRX_ENST00000395603.3_Silent_p.V156V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	194	ADD.		Missing (in ATRX).|V -> I (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACAAATAAGAACTTGCAATG	0.378000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						48	94					0	0	0.870114	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704848	52704848	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:52704848C>A	ENST00000287727.3	+	4	1931	c.1759C>A	c.(1759-1761)Ctt>Att	p.L587I	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L587I|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L587I|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.L587I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	587					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|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						ACCTTCTAATCTTAAACTTCA	0.388000													35	27					1.22384e-17	1.32214e-17	0.769981	1	0
ZNF423	23090	broad.mit.edu	37	16	49764853	49764853	+	Translation_Start_Site	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:49764853G>C	ENST00000563137.2	-	0	490				ZNF423_ENST00000562871.1_De_novo_Start_OutOfFrame|ZNF423_ENST00000561648.1_Missense_Mutation_p.Q36E|ZNF423_ENST00000562520.1_De_novo_Start_OutOfFrame|ZNF423_ENST00000262383.2_Missense_Mutation_p.Q36E			Q2M1K9	ZN423_HUMAN	zinc finger protein 423						cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGGTTTTCTGATCGCACTCT	0.498000													45	181					0	0	0.870114	0	0
CEBPZ	10153	broad.mit.edu	37	2	37443509	37443509	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:37443509C>G	ENST00000234170.5	-	7	2406	c.2261G>C	c.(2260-2262)aGa>aCa	p.R754T		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	754					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCCAAAAATCTCATTAGAGT	0.338000													26	85					0	0	0.717897	0	0
MINK1	50488	broad.mit.edu	37	17	4799024	4799024	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:4799024G>T	ENST00000355280.6	+	27	3457	c.3261G>T	c.(3259-3261)ctG>ctT	p.L1087L	MINK1_ENST00000347992.7_Silent_p.L1058L|MINK1_ENST00000453408.3_Silent_p.L1067L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1087	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGTATTACCTGTCCTGGCTCC	0.602000													4	20					0.00024832	0.000255931	0.150653	1	0
LRP1B	53353	broad.mit.edu	37	2	141356336	141356336	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:141356336T>A	ENST00000389484.3	-	43	8029	c.7058A>T	c.(7057-7059)aAt>aTt	p.N2353I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2353					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)		CACTTGAGCATTTTTCCCAGT	0.368000										TSP Lung(27;0.18)			9	31					0	0	0.335167	0	0
NMI	9111	broad.mit.edu	37	2	152135393	152135393	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:152135393G>A	ENST00000243346.5	-	4	759	c.289C>T	c.(289-291)Cct>Tct	p.P97S		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	97					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		ATCTCATAAGGAACTTTCGAG	0.343000													5	26					0	0	0.184627	0	0
NBN	4683	broad.mit.edu	37	8	90955524	90955524	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:90955524C>T	ENST00000265433.3	-	14	2295	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	NBN_ENST00000409330.1_Missense_Mutation_p.R632Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	714					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	p.R714L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGTATTCTTTCGAGCATGATG	0.398000								Homologous recombination					22	167					0	0	0.681144	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413087	139413087	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:139413087T>A	ENST00000277541.6	-	6	1130	c.1055A>T	c.(1054-1056)gAc>gTc	p.D352V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	352	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACACGGTCATGGCAGGT	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	8					0	0	0.479597	0	0
C8orf22	492307	broad.mit.edu	37	8	49986796	49986796	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:49986796T>C	ENST00000303202.8	+	4	310	c.137T>C	c.(136-138)tTg>tCg	p.L46S	C8orf22_ENST00000517663.1_Missense_Mutation_p.L46S|C8orf22_ENST00000399653.4_Missense_Mutation_p.L46S|C8orf22_ENST00000522267.1_Missense_Mutation_p.L46S	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	46										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTAATAGGGTTGCCTGAAGTG	0.333000													6	96					0	0	0.217242	0	0
ATP10A	57194	broad.mit.edu	37	15	25924588	25924588	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:25924588G>A	ENST00000356865.6	-	21	4511	c.4400C>T	c.(4399-4401)gCg>gTg	p.A1467V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1467					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCACGTCCCGCTTGTCCATC	0.567000													10	40					0	0	0.361761	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799178	133799178	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:133799178C>T	ENST00000372338.4	-	4	1044	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	FIBCD1_ENST00000253018.4_Missense_Mutation_p.G110S|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G268S|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G110S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	268	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		ACCTGGAAGCCGGCCGGGTAG	0.697000													32	32					0	0	0.740014	0	0
HMCN1	83872	broad.mit.edu	37	1	185815158	185815158	+	Splice_Site	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:185815158A>T	ENST00000271588.4	+	2	498	c.268_splice	c.e2-1	p.E90_splice	HMCN1_ENST00000367492.2_Splice_Site_p.E90_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	90	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTTCACAGAAATTGGCCCA	0.363000													6	44					0	0	0.217242	0	0
ZFHX3	463	broad.mit.edu	37	16	72821072	72821072	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:72821072G>A	ENST00000268489.5	-	10	11775	c.11103C>T	c.(11101-11103)ttC>ttT	p.F3701F	RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.F2787F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3701					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTACAATCTGAAGGTGTCCG	0.438000													46	172					0	0	0.870114	0	0
KDM7A	80853	broad.mit.edu	37	7	139833366	139833366	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:139833366T>A	ENST00000397560.2	-	3	468	c.371A>T	c.(370-372)aAg>aTg	p.K124M	JHDM1D_ENST00000006967.5_Missense_Mutation_p.K124M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		124					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCGTAATTCCTTAATGAAAGT	0.368000													11	63					0	0	0.411799	0	0
TRGC1	6966	broad.mit.edu	37	7	38299801	38299801	+	RNA	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:38299801G>C	ENST00000443402.2	-	0	408					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					GTAATATGCAGAGGTGTTTGT	0.423000													9	58					0	0	0.307466	0	0
NEK8	284086	broad.mit.edu	37	17	27061083	27061083	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:27061083G>A	ENST00000268766.6	+	2	164	c.130G>A	c.(130-132)Gag>Aag	p.E44K	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	44	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GACCAAGGAAGAGCGGCAGGC	0.527000													11	57					0	0	0.387290	0	0
OR5D13	390142	broad.mit.edu	37	11	55540942	55540942	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:55540942G>C	ENST00000361760.1	+	1	29	c.29G>C	c.(28-30)aGc>aCc	p.S10T		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AATCAAAGCAGCACACCCACT	0.383000													24	85					0	0	0.639603	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526789	64526789	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:64526789T>C	ENST00000498707.1	-	36	5845	c.5503A>G	c.(5503-5505)Acc>Gcc	p.T1835A	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T1807A	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1835	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCATGCTGGTCAGGTCTATT	0.493000													18	52					0	0	0.520397	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147674977	147674977	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:147674977C>T	ENST00000361727.3	+	15	2795	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	760	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTTTCTTATCATACAAAGAT	0.473000										HNSCC(39;0.1)			29	67					0	0	0.779181	0	0
RGL4	266747	broad.mit.edu	37	22	24035973	24035973	+	Missense_Mutation	SNP	G	G	A	rs145276888		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:24035973G>A	ENST00000290691.5	+	4	1894	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	RGL4_ENST00000401461.1_Missense_Mutation_p.E106K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	242	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GGTGCTCCACGAATGCTTGGG	0.582000													10	47					0	0	0.387290	0	0
NBPF10	100132406	broad.mit.edu	37	1	145301751	145301751	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:145301751T>A	ENST00000342960.5	+	7	1055	c.1020T>A	c.(1018-1020)ttT>ttA	p.F340L	NBPF10_ENST00000369338.1_Missense_Mutation_p.F69L|NBPF10_ENST00000369339.2_Missense_Mutation_p.F69L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	340										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCATAAAATTTATGCTGAGGA	0.527000													71	462					0	0	0.870114	0	0
RBM4	5936	broad.mit.edu	37	11	66407477	66407477	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:66407477G>C	ENST00000409406.1	+	1	1072	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	RBM4_ENST00000532968.1_Missense_Mutation_p.E99Q|RBM4_ENST00000396053.4_Missense_Mutation_p.E99Q|RBM4_ENST00000408993.2_Missense_Mutation_p.E99Q|RBM4_ENST00000483858.1_Missense_Mutation_p.E99Q|RBM4_ENST00000530235.1_Missense_Mutation_p.E99Q|RBM4_ENST00000310092.7_Missense_Mutation_p.E99Q|RBM4_ENST00000398692.4_Missense_Mutation_p.E99Q|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000578778.1_Missense_Mutation_p.E99Q|RBM4_ENST00000506523.2_Missense_Mutation_p.E99Q|RBM4_ENST00000503028.2_Missense_Mutation_p.E99Q|RBM14-RBM4_ENST00000500635.2_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGCCAAGTTTGAGGAGTATGG	0.512000													57	164					0	0	0.870114	0	0
TEKT1	83659	broad.mit.edu	37	17	6722673	6722673	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722673C>G	ENST00000338694.2	-	3	324	c.195G>C	c.(193-195)caG>caC	p.Q65H	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	65					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTCGAGTCTCTGTTCTGAAG	0.418000													5	24					0	0	0.184627	0	0
SIM1	6492	broad.mit.edu	37	6	100841664	100841664	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:100841664G>A	ENST00000369208.3	-	11	2051	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	SIM1_ENST00000262901.4_Silent_p.A423A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	423	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CAGGCCTATCGGCGGGGTCCA	0.597000													26	36					0	0	0.681144	0	0
CACTIN	58509	broad.mit.edu	37	19	3613204	3613204	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:3613204C>G	ENST00000429344.2	-	9	1690	c.1638G>C	c.(1636-1638)ctG>ctC	p.L546L	CACTIN_ENST00000248420.5_Silent_p.L546L|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Silent_p.L478L	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		TCTGCTGGATCAGGTCCTCCT	0.726000													11	32					0	0	0.457914	0	0
SLC9C1	285335	broad.mit.edu	37	3	111886130	111886130	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:111886130A>T	ENST00000305815.5	-	26	3554	c.3302T>A	c.(3301-3303)tTc>tAc	p.F1101Y	SLC9C1_ENST00000487372.1_Missense_Mutation_p.F1053Y	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1101					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATTCCTTCTGAATGTTTTCAT	0.303000													4	22					0	0	0.184627	0	0
HEATR5B	54497	broad.mit.edu	37	2	37227876	37227876	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:37227876G>C	ENST00000233099.5	-	33	5493	c.5398C>G	c.(5398-5400)Cag>Gag	p.Q1800E	HEATR5B_ENST00000354531.2_Missense_Mutation_p.Q1711E	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1800							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGAGGAACCTGATTATCTGCA	0.408000													21	54					0	0	0.592651	0	0
LINGO4	339398	broad.mit.edu	37	1	151774265	151774265	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:151774265G>A	ENST00000368820.3	-	2	1853	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	306						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGACAGGCGTAGCTCCTGG	0.612000													10	55					0	0	0.411799	0	0
CCNA2	890	broad.mit.edu	37	4	122740557	122740557	+	Silent	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:122740557A>T	ENST00000274026.5	-	5	1275	c.972T>A	c.(970-972)ccT>ccA	p.P324P		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	324					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TGCAGTTTGCAGGCTGCTGAT	0.373000													3	52					0	0	0.115264	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457676	15457676	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:15457676A>G	ENST00000360151.4	-	8	892	c.893T>C	c.(892-894)cTa>cCa	p.L298P		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		CGCTGAGGGTAGAGCTGAGGG	0.562000													4	99					0	0	0.150653	0	0
KCNIP2	30819	broad.mit.edu	37	10	103588905	103588905	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:103588905C>A	ENST00000358038.3	-	3	572	c.221G>T	c.(220-222)gGt>gTt	p.G74V	KCNIP2_ENST00000343195.4_Missense_Mutation_p.G42V|KCNIP2_ENST00000353068.3_Missense_Mutation_p.G42V|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000461105.1_Missense_Mutation_p.G107V|KCNIP2_ENST00000348850.5_Missense_Mutation_p.G47V|KCNIP2_ENST00000356640.2_Missense_Mutation_p.G92V|KCNIP2_ENST00000370046.1_Missense_Mutation_p.G42V	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	92					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CTGCTCCAGACCCTCAGGCCG	0.617000													7	18					5.18039e-06	5.38041e-06	0.278610	1	0
USP35	57558	broad.mit.edu	37	11	77911809	77911809	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:77911809C>T	ENST00000529308.1	+	6	1413	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F115F|USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	384					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGTTCCGGTTCCCGGGCTTCC	0.622000													5	26					0	0	0.217242	0	0
GOLGA3	2802	broad.mit.edu	37	12	133363026	133363026	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:133363026G>A	ENST00000204726.3	-	15	3580	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1008C|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R1008C|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R1008C|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R1008C	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1008					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAGGCGGCGGCTGAGGATG	0.657000													9	13					0	0	0.307466	0	0
TEKT1	83659	broad.mit.edu	37	17	6722667	6722667	+	Silent	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722667G>C	ENST00000338694.2	-	3	330	c.201C>G	c.(199-201)ctC>ctG	p.L67L	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	67					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GGACTTCCTCGAGTCTCTGTT	0.408000													8	24					0	0	0.278610	0	0
KDM5A	5927	broad.mit.edu	37	12	463358	463358	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:463358C>T	ENST00000399788.2	-	8	1275	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E305K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	305					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATTTATCTTCATTGTTTCCC	0.333000			T	NUP98	AML								8	39					0	0	0.278610	0	0
BICD1	636	broad.mit.edu	37	12	32490488	32490488	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:32490488G>C	ENST00000548411.1	+	7	2489	c.2308G>C	c.(2308-2310)Gag>Cag	p.E770Q	BICD1_ENST00000281474.5_Missense_Mutation_p.E770Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	770	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCAGCTGCAGAGGATGAGAA	0.463000													10	39					0	0	0.335167	0	0
SLC25A39	51629	broad.mit.edu	37	17	42399067	42399067	+	Splice_Site	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:42399067C>A	ENST00000225308.8	-	6	543		c.e6+1		SLC25A39_ENST00000590194.1_Splice_Site|SLC25A39_ENST00000586016.1_Splice_Site|SLC25A39_ENST00000537904.2_Splice_Site|SLC25A39_ENST00000377095.5_Splice_Site	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39						heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGCTACTCACAGGGTGGCGG	0.612000													6	39					0.0215528	0.0218781	0.217242	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622000													3	26					0	0	0.150653	0	0
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:88057031C>T	ENST00000504921.2	-	4	1045	c.373G>A	c.(373-375)Gat>Aat	p.D125N	MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125N|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125N|MEF2C_ENST00000437473.2_Missense_Mutation_p.D125N|MEF2C_ENST00000514028.1_Missense_Mutation_p.D125N|MEF2C_ENST00000514015.1_Missense_Mutation_p.D125N|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125N			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453000										HNSCC(66;0.2)			28	92					0	0	0.706142	0	0
MAPK11	5600	broad.mit.edu	37	22	50703900	50703900	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:50703900G>A	ENST00000330651.6	-	11	965	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L		NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	289	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCAGCACCAGCATCCTTCCA	0.637000													4	52					0	0	0.150653	0	0
MVB12A	93343	broad.mit.edu	37	19	17534558	17534558	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:17534558T>A	ENST00000317040.7	+	6	1645	c.590T>A	c.(589-591)cTg>cAg	p.L197Q	MVB12A_ENST00000543795.1_Missense_Mutation_p.L197Q|MVB12A_ENST00000392702.2_Missense_Mutation_p.L157Q|MVB12A_ENST00000529939.1_Missense_Mutation_p.L197Q|MVB12A_ENST00000528515.1_Missense_Mutation_p.C155S					multivesicular body subunit 12A																		GCATCCACTCTGCGGAGGAAT	0.602000													13	58					0	0	0.500413	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													5	58					0	0	0.335167	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													4	98					0	0	0.150653	0	0
EHMT2	10919	broad.mit.edu	37	6	31855970	31855970	+	Silent	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:31855970G>C	ENST00000395728.3	-	12	1763	c.1764C>G	c.(1762-1764)gtC>gtG	p.V588V	EHMT2_ENST00000375530.4_Silent_p.V497V|EHMT2_ENST00000375528.4_Silent_p.V554V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.V531V			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	531					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGACAGAAGACCATCCCAT	0.642000													25	36					0	0	0.717897	0	0
OR7D2	162998	broad.mit.edu	37	19	9296835	9296835	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:9296835C>G	ENST00000344248.2	+	1	557	c.378C>G	c.(376-378)gtC>gtG	p.V126V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	126					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTGTGGCTGTCTGCCACCCTC	0.512000													43	152					0	0	0.864702	0	0
NLRP8	126205	broad.mit.edu	37	19	56466905	56466905	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:56466905G>A	ENST00000291971.3	+	3	1552	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R494Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	494	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGTATTCTTCGGAGAATTGCA	0.468000													30	107					0	0	0.706142	0	0
ZNF860	344787	broad.mit.edu	37	3	32030581	32030581	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:32030581G>A	ENST00000360311.4	+	2	559	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CATGTTACGTGAGGAAGCAGC	0.453000													14	72					0	0	0.479597	0	0
CLIP1	6249	broad.mit.edu	37	12	122825752	122825752	+	Silent	SNP	T	T	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:122825752T>G	ENST00000358808.2	-	10	2120	c.1966A>C	c.(1966-1968)Aga>Cga	p.R656R	CLIP1_ENST00000302528.7_Silent_p.R656R|CLIP1_ENST00000545889.1_Silent_p.R357R|CLIP1_ENST00000540338.1_Silent_p.R667R|CLIP1_ENST00000537178.1_Silent_p.R621R|CLIP1_ENST00000361654.4_Silent_p.R621R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	667					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TAATCTAGTCTCATTTTCTCT	0.433000													35	119					0	0	0.760397	0	0
NEDD8	4738	broad.mit.edu	37	14	24686415	24686415	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:24686415G>C	ENST00000250495.5	-	4	350	c.164C>G	c.(163-165)aCa>aGa	p.T55R	NEDD8-MDP1_ENST00000534348.1_Intron|NEDD8-MDP1_ENST00000604306.1_Intron	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		ATCAGCTGCTGTCTTCTCATC	0.418000													14	30					0	0	0.457914	0	0
OR2G2	81470	broad.mit.edu	37	1	247752273	247752273	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:247752273G>A	ENST00000320065.1	+	1	612	c.612G>A	c.(610-612)gtG>gtA	p.V204V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGCTTTTTGTGGCTAGTATCC	0.512000													19	80					0	0	0.575678	0	0
IGSF10	285313	broad.mit.edu	37	3	151155070	151155070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:151155070C>A	ENST00000282466.3	-	6	7278	c.7279G>T	c.(7279-7281)Gaa>Taa	p.E2427*	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2427	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGCCAATTTCTAATATGACT	0.403000													15	76					3.27435e-08	3.48143e-08	0.457914	1	0
PTPRB	5787	broad.mit.edu	37	12	70964817	70964817	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:70964817T>C	ENST00000334414.6	-	13	3403	c.3359A>G	c.(3358-3360)gAg>gGg	p.E1120G	PTPRB_ENST00000551525.1_Missense_Mutation_p.E1119G|PTPRB_ENST00000550857.1_Missense_Mutation_p.E812G|PTPRB_ENST00000261266.5_Missense_Mutation_p.E902G|PTPRB_ENST00000538708.1_Missense_Mutation_p.E902G|PTPRB_ENST00000451516.2_Missense_Mutation_p.E812G|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1032G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	902	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTGAAGCCCTCAATGAAGGC	0.443000													3	44					0	0	0.150653	0	0
SOS2	6655	broad.mit.edu	37	14	50597372	50597372	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:50597372C>T	ENST00000216373.5	-	20	3458	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K	SOS2_ENST00000543680.1_Missense_Mutation_p.E1029K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1062					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	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTACATGGTTCTCTTTCTAAT	0.438000													15	77					0	0	0.479597	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199187	90199187	+	RNA	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:90199187C>A	ENST00000390276.2	+	0	529																											CTAACAGTTTCCCTCCCACAG	0.532000													13	106					3.5997e-14	3.87328e-14	0.624587	1	0
FAM91A1	157769	broad.mit.edu	37	8	124810426	124810426	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:124810426C>G	ENST00000334705.7	+	16	1754	c.1508C>G	c.(1507-1509)tCc>tGc	p.S503C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S503C	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	503										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTGCTTGTTTCCATGGCTCCC	0.493000													15	179					0	0	0.479597	0	0
SPEG	10290	broad.mit.edu	37	2	220334043	220334043	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:220334043C>T	ENST00000312358.7	+	13	3789	c.3657C>T	c.(3655-3657)atC>atT	p.I1219I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1219	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCCCACCATCAGCTGGTTCC	0.642000													4	23					0	0	0.184627	0	0
GIT1	28964	broad.mit.edu	37	17	27903555	27903555	+	Silent	SNP	C	C	G	rs145208703		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:27903555C>G	ENST00000225394.3	-	13	1613	c.1365G>C	c.(1363-1365)cgG>cgC	p.R455R	GIT1_ENST00000394869.3_Silent_p.R464R|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Silent_p.R464R|GIT1_ENST00000579937.1_Silent_p.R455R	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	455					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GCTGCAGCCTCCGGAGCTCGT	0.622000													13	49					0	0	0.500413	0	0
ITGA4	3676	broad.mit.edu	37	2	182347350	182347350	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:182347350G>T	ENST00000397033.2	+	9	1443	c.1013G>T	c.(1012-1014)aGa>aTa	p.R338I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	338					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.R338I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAGGAAGGAAGAGTGTTTGTG	0.473000													34	130					1.36239e-07	1.43157e-07	0.779181	1	0
QSER1	79832	broad.mit.edu	37	11	32956840	32956840	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956840G>C	ENST00000399302.2	+	4	3984	c.3649G>C	c.(3649-3651)Gat>Cat	p.D1217H	QSER1_ENST00000527788.1_Missense_Mutation_p.D978H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1217										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGATAAAGTTGATAATGAACT	0.398000													35	136					0	0	0.788014	0	0
WIPF1	7456	broad.mit.edu	37	2	175446073	175446073	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:175446073G>A	ENST00000392547.2	-	3	245	c.146C>T	c.(145-147)aCg>aTg	p.T49M	WIPF1_ENST00000272746.5_Missense_Mutation_p.T49M|WIPF1_ENST00000359761.3_Missense_Mutation_p.T49M|WIPF1_ENST00000409891.1_Missense_Mutation_p.T49M|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.T49M|WIPF1_ENST00000410117.1_Missense_Mutation_p.T49M|AC018890.6_ENST00000412835.1_RNA|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.T49M	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	49	WH2.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.T49M(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATTGGTGACCGTCTTCTTTAG	0.433000													65	238					0	0	0.870114	0	0
IL16	3603	broad.mit.edu	37	15	81598343	81598343	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:81598343G>A	ENST00000394660.2	+	17	3875	c.3515G>A	c.(3514-3516)gGg>gAg	p.G1172E	IL16_ENST00000302987.4_Missense_Mutation_p.G1172E|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.G471E	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1172	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCTCTCAAGGGGACCACGCAC	0.567000													38	152					0	0	0.812448	0	0
QSER1	79832	broad.mit.edu	37	11	32956153	32956153	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956153G>C	ENST00000399302.2	+	4	3297	c.2962G>C	c.(2962-2964)Gaa>Caa	p.E988Q	QSER1_ENST00000527788.1_Missense_Mutation_p.E749Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	988										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTGAATCTGAAGAAGACAG	0.393000													14	46					0	0	0.479597	0	0
TRIM2	23321	broad.mit.edu	37	4	154197120	154197120	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:154197120C>T	ENST00000338700.5	+	3	356	c.291C>T	c.(289-291)ccC>ccT	p.P97P	TRIM2_ENST00000437508.2_Silent_p.P70P|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	70						cytoplasm	zinc ion binding	p.P97P(1)|p.P70P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCATCCTGCCCGAGAAAGGGG	0.577000													13	68					0	0	0.411799	0	0
CD163L1	283316	broad.mit.edu	37	12	7522052	7522052	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:7522052G>A	ENST00000313599.3	-	15	3997	c.3940C>T	c.(3940-3942)Cgg>Tgg	p.R1314W	CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W|CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1314	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTTTGCACCGCATGTCATCC	0.572000													4	93					0	0	0.184627	0	0
YBX2	51087	broad.mit.edu	37	17	7193599	7193599	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7193599G>A	ENST00000007699.5	-	5	778	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	239	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622000													39	161					0	0	0.859065	0	0
MUC3A	4584	broad.mit.edu	37	7	100551523	100551523	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:100551523T>A	ENST00000319509.7	+	1	274	c.274T>A	c.(274-276)Tcc>Acc	p.S92T						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGAAACCTCATCCCTTGTGGG	0.458000													78	177					0	0	0.870114	0	0
RPTN	126638	broad.mit.edu	37	1	152128885	152128885	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:152128885C>T	ENST00000316073.3	-	3	754	c.690G>A	c.(688-690)cgG>cgA	p.R230R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	230	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTTTTTCACACCGATTTAAGG	0.418000													81	173					0	0	0.870114	0	0
PPRC1	23082	broad.mit.edu	37	10	103901291	103901291	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:103901291G>A	ENST00000278070.2	+	5	3065	c.3026G>A	c.(3025-3027)aGa>aAa	p.R1009K	PPRC1_ENST00000413464.2_Missense_Mutation_p.R1009K|PPRC1_ENST00000370012.1_5'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1009	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCATTGGGAGAGCTGTTCCC	0.572000													9	40					0	0	0.335167	0	0
SPEG	10290	broad.mit.edu	37	2	220336980	220336980	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:220336980G>A	ENST00000312358.7	+	15	3999	c.3867G>A	c.(3865-3867)ccG>ccA	p.P1289P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1289	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGGCGCCCCGCAGGTGGTGG	0.647000													12	62					0	0	0.435327	0	0
CUBN	8029	broad.mit.edu	37	10	17113504	17113504	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:17113504G>A	ENST00000377833.4	-	19	2611	c.2546C>T	c.(2545-2547)cCc>cTc	p.P849L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	849	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGCTTTGGGGCTGGTGGAT	0.458000													3	63					0	0	0.115264	0	0
MYH4	4622	broad.mit.edu	37	17	10359162	10359162	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:10359162C>G	ENST00000255381.2	-	18	2135	c.2025G>C	c.(2023-2025)cgG>cgC	p.R675R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	675	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGATGATGCACCGCACAAAGT	0.428000													26	113					0	0	0.740014	0	0
MDGA2	161357	broad.mit.edu	37	14	47504314	47504314	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:47504314A>C	ENST00000426342.1	-	8	1571	c.825T>G	c.(823-825)aaT>aaG	p.N275K	MDGA2_ENST00000399232.2_Missense_Mutation_p.N573K|MDGA2_ENST00000439988.2_Missense_Mutation_p.N504K|MDGA2_ENST00000357362.3_Missense_Mutation_p.N275K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	504	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCTAGATACATTCACAATCC	0.428000													23	122					0	0	0.624587	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													8	37					0	0	0.335167	0	0
GDF15	9518	broad.mit.edu	37	19	18499466	18499466	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:18499466C>T	ENST00000595973.1	+	3	1199	c.648C>T	c.(646-648)gtC>gtT	p.V216V	GDF15_ENST00000252809.3_Silent_p.V216V			Q99988	GDF15_HUMAN	growth differentiation factor 15	216					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TGCACACGGTCCGCGCGTCGC	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	16					0	0	0.248553	0	0
NUP210	23225	broad.mit.edu	37	3	13368824	13368824	+	Missense_Mutation	SNP	G	G	A	rs147955019	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:13368824G>A	ENST00000254508.5	-	32	4482	c.4400C>T	c.(4399-4401)tCg>tTg	p.S1467L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1467					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CATGAAGTCCGAGAGGCCCGG	0.652000													7	26					0	0	0.248553	0	0
NUDT8	254552	broad.mit.edu	37	11	67395432	67395432	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:67395432C>T	ENST00000376693.2	-	4	705	c.696G>A	c.(694-696)ctG>ctA	p.L232L	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	232						mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GACCTTTATTCAGTCCTGGAG	0.642000													6	28					0	0	0.217242	0	0
MED23	9439	broad.mit.edu	37	6	131917142	131917142	+	Silent	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:131917142T>C	ENST00000403834.3	-	22	3131	c.2958A>G	c.(2956-2958)gtA>gtG	p.V986V	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368068.3_Silent_p.V980V|MED23_ENST00000545957.1_Silent_p.V621V|MED23_ENST00000354577.4_Silent_p.V986V|MED23_ENST00000368060.3_Silent_p.V980V|MED23_ENST00000368058.1_Silent_p.V986V			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	980					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTGATTTGGATACCGGAAGCA	0.378000													3	123					0	0	0.115264	0	0
MALAT1	378938	broad.mit.edu	37	11	65272416	65272416	+	RNA	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:65272416C>A	ENST00000534336.1	+	0	7184					NR_002819.2																						ACCACTAGTTCTTTCAGATGG	0.378000													9	32					0.307466	0.309769	0.307466	1	0
SERF2	10169	broad.mit.edu	37	15	44085227	44085227	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:44085227C>T	ENST00000381359.1	+	4	991	c.62C>T	c.(61-63)tCg>tTg	p.S21L	SERF2_ENST00000409960.2_Missense_Mutation_p.S21L|SERF2_ENST00000409614.1_Missense_Mutation_p.S7L|SERF2_ENST00000409291.1_Missense_Mutation_p.S7L|SERF2_ENST00000409646.1_Missense_Mutation_p.S21L|SERF2_ENST00000403425.1_Missense_Mutation_p.S7L|SERF2_ENST00000249786.4_Missense_Mutation_p.S21L|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000339624.5_Missense_Mutation_p.S21L|SERF2_ENST00000594896.1_5'UTR|SERF2_ENST00000402131.1_Missense_Mutation_p.S7L	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	21						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGAGCGACTCGGTTAAGGGA	0.597000													6	24					0	0	0.361761	0	0
NRXN3	9369	broad.mit.edu	37	14	79175742	79175742	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:79175742G>T	ENST00000554719.1	+	4	776	c.285G>T	c.(283-285)atG>atT	p.M95I	NRXN3_ENST00000335750.5_Missense_Mutation_p.M95I|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTAAACGTATGGGCTCCATCT	0.517000													16	73					6.31663e-08	6.68966e-08	0.479597	1	0
TEKT1	83659	broad.mit.edu	37	17	6722633	6722633	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722633C>T	ENST00000338694.2	-	3	364	c.235G>A	c.(235-237)Gac>Aac	p.D79N	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	79					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCAAGTTTGTCATCTAACTCC	0.448000													10	36					0	0	0.387290	0	0
RPGR	6103	broad.mit.edu	37	X	38135929	38135929	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:38135929C>T	ENST00000339363.3	-	15	2784	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.D606N|RPGR_ENST00000318842.7_Missense_Mutation_p.D668N|RPGR_ENST00000338898.3_3'UTR			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	873	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTTTCATCATCTCCCACAGTT	0.358000													20	107					0	0	0.608945	0	0
MAP3K15	389840	broad.mit.edu	37	X	19398256	19398256	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:19398256C>T	ENST00000338883.4	-	19	2570	c.2571G>A	c.(2569-2571)ccG>ccA	p.P857P	MAP3K15_ENST00000469203.2_Silent_p.P689P|MAP3K15_ENST00000359173.3_Silent_p.P292P|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	857	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGGCTGCCTGCGGCTCACCAA	0.537000													5	11					0	0	0.248553	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279041	51279041	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:51279041A>T	ENST00000551456.1	+	4	710	c.665A>T	c.(664-666)aAt>aTt	p.N222I	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.N222I			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	222	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AACGCTACAAATATTTTACAA	0.328000													20	85					0	0	0.592651	0	0
USP43	124739	broad.mit.edu	37	17	9631983	9631983	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:9631983C>G	ENST00000570827.2	+	15	3189	c.2115C>G	c.(2113-2115)gtC>gtG	p.V705V	USP43_ENST00000285199.6_Silent_p.V1016V|USP43_ENST00000570475.1_Silent_p.V1011V			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1016					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGGCAGAGGTCTCTCCACAGG	0.642000													9	9					0	0	0.335167	0	0
SH3GL3	6457	broad.mit.edu	37	15	84241361	84241361	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:84241361G>A	ENST00000324537.5	+	8	892	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SH3GL3_ENST00000535412.1_Missense_Mutation_p.E126K|SH3GL3_ENST00000427482.2_Missense_Mutation_p.E126K|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E134K			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	126	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTAATGGCTGAGGTGAAAGA	0.353000													10	54					0	0	0.335167	0	0
RACGAP1	29127	broad.mit.edu	37	12	50388028	50388028	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:50388028G>C	ENST00000434422.1	-	13	1526	c.1225C>G	c.(1225-1227)Ctc>Gtc	p.L409V	RACGAP1_ENST00000454520.2_Missense_Mutation_p.L409V|RACGAP1_ENST00000312377.5_Missense_Mutation_p.L409V|RACGAP1_ENST00000547905.1_Missense_Mutation_p.L409V|RACGAP1_ENST00000551016.1_Missense_Mutation_p.L409V|RACGAP1_ENST00000427314.2_Missense_Mutation_p.L409V			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	409	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACTTTGCTGAGGAGGGGTACA	0.438000													26	91					0	0	0.706142	0	0
ZNF343	79175	broad.mit.edu	37	20	2464844	2464844	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr20:2464844T>C	ENST00000278772.4	-	6	1250	c.763A>G	c.(763-765)Aac>Gac	p.N255D	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTAATAAAGTTTGATTCCAGG	0.438000													7	90					0	0	0.248553	0	0
PAF1	54623	broad.mit.edu	37	19	39879807	39879807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:39879807C>A	ENST00000221265.3	-	7	823	c.493G>T	c.(493-495)Gag>Tag	p.E165*	PAF1_ENST00000221266.7_Nonsense_Mutation_p.E155*|PAF1_ENST00000595564.1_Nonsense_Mutation_p.E155*	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	165					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATTTCTTCCTCGGTAAACTGC	0.473000													27	85					4.22769e-11	4.53088e-11	0.706142	1	0
SHMT2	6472	broad.mit.edu	37	12	57627425	57627425	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:57627425G>A	ENST00000328923.3	+	9	1555	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	SHMT2_ENST00000557487.1_Missense_Mutation_p.R358Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.R347Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.R272Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R347Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R347Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	368						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGCTAGAGCGAGGCTACTCA	0.587000													7	34					0	0	0.248553	0	0
WNK1	65125	broad.mit.edu	37	12	960910	960910	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:960910C>T	ENST00000340908.4	+	1	52	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000540360.1_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CATAAATTCTCATTGCTGCTG	0.313000													3	22					0	0	0.150653	0	0
USP9X	8239	broad.mit.edu	37	X	40988323	40988323	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:40988323C>T	ENST00000324545.7	+	3	800	c.167C>T	c.(166-168)gCc>gTc	p.A56V	USP9X_ENST00000378308.2_Missense_Mutation_p.A56V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	56					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAGGTGATGCCCCACCACAG	0.443000													3	43					0	0	0.115264	0	0
KCNH6	81033	broad.mit.edu	37	17	61623093	61623093	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:61623093G>C	ENST00000583023.1	+	14	2826	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	KCNH6_ENST00000314672.5_Missense_Mutation_p.E903Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.E850Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.E850Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	939					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGAACAGCCTGAGGGGCTCTG	0.582000													17	69					0	0	0.575678	0	0
DHODH	1723	broad.mit.edu	37	16	72046112	72046112	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:72046112C>A	ENST00000572887.1	+	2	362	c.185C>A	c.(184-186)aCc>aAc	p.T62N	DHODH_ENST00000219240.4_Missense_Mutation_p.T62N			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	62					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GTTCGCTTCACCTCCCTGGGG	0.567000													16	58					9.7654e-05	0.000101034	0.557998	1	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	94					0	0	0.184627	0	0
SEC62	7095	broad.mit.edu	37	3	169703609	169703609	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:169703609A>G	ENST00000337002.4	+	6	624	c.566A>G	c.(565-567)tAt>tGt	p.Y189C	SEC62_ENST00000470355.1_3'UTR|SEC62_ENST00000480708.1_Missense_Mutation_p.Y189C	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	189					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTATGGATCTATGACCCAGTT	0.308000													12	48					0	0	0.411799	0	0
MPDZ	8777	broad.mit.edu	37	9	13223589	13223589	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:13223589C>T	ENST00000319217.7	-	5	761	c.514G>A	c.(514-516)Gag>Aag	p.E172K	MPDZ_ENST00000447879.1_Missense_Mutation_p.E172K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E172K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E172K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E172K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E172K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E172K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	172	PDZ 1.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACACTGCCCTCTTGTATCTCT	0.448000													8	48					0	0	0.278610	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965184	7965184	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:7965184G>T	ENST00000539278.1	-	1	3243	c.83C>A	c.(82-84)cCg>cAg	p.P28Q	LRRC8E_ENST00000306708.6_Missense_Mutation_p.G593W																							GGTGGCCTGCGGGCTGGAGCG	0.632000													3	22					0.115264	0.116564	0.115264	1	0
PLEC	5339	broad.mit.edu	37	8	144992659	144992659	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:144992659T>A	ENST00000322810.4	-	32	11910	c.11741A>T	c.(11740-11742)gAg>gTg	p.E3914V	PLEC_ENST00000354589.3_Missense_Mutation_p.E3777V|PLEC_ENST00000356346.3_Missense_Mutation_p.E3763V|PLEC_ENST00000357649.2_Missense_Mutation_p.E3781V|PLEC_ENST00000354958.2_Missense_Mutation_p.E3755V|PLEC_ENST00000436759.2_Missense_Mutation_p.E3804V|PLEC_ENST00000398774.2_Missense_Mutation_p.E3745V|PLEC_ENST00000345136.3_Missense_Mutation_p.E3777V|PLEC_ENST00000527096.1_Missense_Mutation_p.E3800V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3914	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGGTCTGCTCGGTGTAGGG	0.682000													4	16					0	0	0.217242	0	0
CERS2	29956	broad.mit.edu	37	1	150940939	150940939	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:150940939G>A	ENST00000271688.6	-	3	609	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	CERS2_ENST00000561294.1_Missense_Mutation_p.R75W|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.R75W	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	75						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCCCGCAGCCGAGTTTTCTCC	0.562000													16	62					0	0	0.520397	0	0
MKLN1	4289	broad.mit.edu	37	7	131012684	131012684	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:131012684C>G	ENST00000352689.6	+	1	66	c.26C>G	c.(25-27)gCg>gGg	p.A9G	MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	9					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GCTGTCGCTGCGGCGCCCGAG	0.682000													7	27					0	0	0.278610	0	0
AP1G1	164	broad.mit.edu	37	16	71823366	71823366	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:71823366C>G	ENST00000299980.4	-	2	458	c.17G>C	c.(16-18)aGa>aCa	p.R6T	AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000569748.1_Missense_Mutation_p.R6T|AP1G1_ENST00000423132.2_Missense_Mutation_p.R6T|AP1G1_ENST00000433195.2_Missense_Mutation_p.R29T|AP1G1_ENST00000393512.3_Missense_Mutation_p.R6T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	6					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTCCCGCAATCTGATGGGGGC	0.438000													15	66					0	0	0.457914	0	0
UMPS	7372	broad.mit.edu	37	3	124462850	124462850	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:124462850C>T	ENST00000232607.2	+	6	1468	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	UMPS_ENST00000413078.2_Silent_p.I179I|UMPS_ENST00000536109.1_Silent_p.I362I|UMPS_ENST00000538242.1_Silent_p.I276I	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	454	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		GTGGCATAATCTCAGCAGCTG	0.433000													12	22					0	0	0.387290	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339164	79339164	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:79339164G>A	ENST00000419573.3	-	5	1076	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R268C|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	268	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.R268C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGCAGCGGGCGCAGGAAATTG	0.587000													13	75					0	0	0.457914	0	0
IARS	3376	broad.mit.edu	37	9	95014160	95014160	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:95014160T>C	ENST00000375643.3	-	22	2503	c.2237A>G	c.(2236-2238)aAt>aGt	p.N746S	IARS_ENST00000447699.2_Missense_Mutation_p.N636S|IARS_ENST00000443024.2_Missense_Mutation_p.N746S|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	746					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTCCATCCCATTTTCACCCTA	0.328000													9	46					0	0	0.335167	0	0
SOS2	6655	broad.mit.edu	37	14	50597378	50597378	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:50597378C>T	ENST00000216373.5	-	20	3452	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	SOS2_ENST00000543680.1_Missense_Mutation_p.E1027K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1060					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	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTTCTCTTTCTAATGGTGTT	0.438000													16	74					0	0	0.500413	0	0
CDH6	1004	broad.mit.edu	37	5	31297509	31297509	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:31297509G>A	ENST00000265071.2	+	4	902	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	CDH6_ENST00000514738.1_Missense_Mutation_p.E158K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	213	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTTGAATCAGAAACAGGTTA	0.348000													10	46					0	0	0.335167	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136984	66136984	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:66136984G>A	ENST00000357440.2	-	3	359	c.131C>T	c.(130-132)gCc>gTc	p.A44V	SLC29A2_ENST00000546034.1_Missense_Mutation_p.A44V|SLC29A2_ENST00000544554.1_Missense_Mutation_p.A44V|SLC29A2_ENST00000311161.7_Missense_Mutation_p.A44V	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	44					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GCCGGCCCCGGCCAGTCGCGC	0.627000													5	284					0	0	0.217242	0	0
DMD	1756	broad.mit.edu	37	X	31950313	31950313	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:31950313A>G	ENST00000357033.4	-	46	6852	c.6646T>C	c.(6646-6648)Ttt>Ctt	p.F2216L	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.F2212L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2216					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTCTTTGAAATTCTGACAAG	0.303000													10	36					0	0	0.361761	0	0
KIF1A	547	broad.mit.edu	37	2	241702193	241702193	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:241702193T>A	ENST00000498729.2	-	23	2305	c.2059A>T	c.(2059-2061)Atg>Ttg	p.M687L	KIF1A_ENST00000320389.7_Missense_Mutation_p.M678L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	678					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGGAGTCCATCTGCTTCTGC	0.622000													3	10					0	0	0.115264	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047150	42047150	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:42047150C>T	ENST00000372584.1	-	3	4333	c.3319G>A	c.(3319-3321)Gac>Aac	p.D1107N	HIVEP3_ENST00000372583.1_Missense_Mutation_p.D1107N|HIVEP3_ENST00000247584.5_Missense_Mutation_p.D1107N|HIVEP3_ENST00000429157.2_Missense_Mutation_p.D1107N	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1107					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGGCCTGTCCTGCCCTGGG	0.622000													48	38					0	0	0.870114	0	0
SPTAN1	6709	broad.mit.edu	37	9	131395123	131395123	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:131395123C>G	ENST00000358161.5	+	55	7310	c.7197C>G	c.(7195-7197)ttC>ttG	p.F2399L	SPTAN1_ENST00000372731.4_Missense_Mutation_p.F2394L|SPTAN1_ENST00000372739.3_Missense_Mutation_p.F2399L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2394	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACATGGCTTTCATGATCAGCC	0.597000													26	97					0	0	0.706142	0	0
WAPAL	23063	broad.mit.edu	37	10	88203112	88203112	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:88203112G>A	ENST00000298767.5	-	17	3803	c.3331C>T	c.(3331-3333)Cat>Tat	p.H1111Y	WAPAL_ENST00000263070.7_Missense_Mutation_p.H323Y|WAPAL_ENST00000372075.1_Missense_Mutation_p.H323Y|WAPAL_ENST00000484070.1_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1111	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTGCCGGCATGCTGAAGGGCT	0.398000													10	45					0	0	0.361761	0	0
CES2	8824	broad.mit.edu	37	16	66975486	66975486	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:66975486C>G	ENST00000317091.4	+	7	2169	c.1185C>G	c.(1183-1185)gaC>gaG	p.D395E	CES2_ENST00000417689.1_Missense_Mutation_p.D395E	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	331					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCTCTGCCGACTTTCAGCCTG	0.592000													11	34					0	0	0.411799	0	0
IGSF6	10261	broad.mit.edu	37	16	21654396	21654396	+	Splice_Site	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:21654396G>A	ENST00000268389.4	-	5	726	c.666_splice	c.e5+1	p.S222_splice	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	222					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TACACTTACAGATTGCTGATT	0.338000													44	62					0	0	0.864702	0	0
WIPF3	644150	broad.mit.edu	37	7	29918639	29918639	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:29918639A>T	ENST00000409290.1	+	3	238	c.238A>T	c.(238-240)Aac>Tac	p.N80Y	WIPF3_ENST00000409123.1_Missense_Mutation_p.N80Y|WIPF3_ENST00000242140.5_Missense_Mutation_p.N80Y	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	80										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TAAAGGAACCAACAAAGAAGG	0.517000													4	15					0	0	0.150653	0	0
QSER1	79832	broad.mit.edu	37	11	32956461	32956461	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956461G>C	ENST00000399302.2	+	4	3605	c.3270G>C	c.(3268-3270)caG>caC	p.Q1090H	QSER1_ENST00000527788.1_Missense_Mutation_p.Q851H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1090										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACAGTAATCAGAAACAGCTGA	0.398000													21	82					0	0	0.575678	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415749	88415749	+	Splice_Site	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:88415749G>A	ENST00000418378.1	-	5	774	c.201_splice	c.e5-1	p.A68_splice	SPARCL1_ENST00000282470.6_Splice_Site_p.A68_splice|SPARCL1_ENST00000503414.1_5'UTR	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	68					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGATTTTTCAGCCTTAAAAGA	0.338000													3	36					0	0	0.115264	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949874	235949874	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:235949874G>A	ENST00000409212.1	+	4	968	c.461G>A	c.(460-462)aGa>aAa	p.R154K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R154K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R154K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	154					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GTACCAGGCAGAATGTACAGT	0.512000													16	68					0	0	0.500413	0	0
SPTAN1	6709	broad.mit.edu	37	9	131394439	131394439	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:131394439C>G	ENST00000358161.5	+	52	6909	c.6796C>G	c.(6796-6798)Cag>Gag	p.Q2266E	SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q2261E|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q2266E			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2261					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CATGAGAAGTCAGCTCAAAAA	0.637000													6	24					0	0	0.248553	0	0
SALL1	6299	broad.mit.edu	37	16	51172806	51172806	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:51172806C>T	ENST00000440970.1	-	2	3467	c.3036G>A	c.(3034-3036)ccG>ccA	p.P1012P	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P1109P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1109					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGCCCAGACGGGACGTGAC	0.562000													19	33					0	0	0.557998	0	0
NDUFS3	4722	broad.mit.edu	37	11	47600853	47600853	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:47600853G>A	ENST00000534716.2	+	2	118	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	NDUFS3_ENST00000534208.1_Missense_Mutation_p.V34M|NDUFS3_ENST00000263774.4_Missense_Mutation_p.V34M|NDUFS3_ENST00000528192.1_Missense_Mutation_p.V34M|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000529276.1_Missense_Mutation_p.V34M			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	34					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GTTGCTGCCGGTGAGGCGGGA	0.667000													4	55					0	0	0.307466	0	0
CLGN	1047	broad.mit.edu	37	4	141320051	141320051	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:141320051C>T	ENST00000325617.5	-	8	1278	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	CLGN_ENST00000537281.1_Missense_Mutation_p.E280K|CLGN_ENST00000414773.1_Missense_Mutation_p.E280K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	280					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTTGCTCTTTCATCCCATTCC	0.403000													29	190					0	0	0.796494	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													3	90					0	0	0.115264	0	0
EVPL	2125	broad.mit.edu	37	17	74003878	74003878	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:74003878G>A	ENST00000301607.3	-	22	5661	c.5408C>T	c.(5407-5409)tCc>tTc	p.S1803F	EVPL_ENST00000586740.1_Missense_Mutation_p.S1825F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1803	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGGCCGGGGAGGCGAGCGG	0.602000													23	64					0	0	0.624587	0	0
SQRDL	58472	broad.mit.edu	37	15	45962152	45962152	+	Silent	SNP	T	T	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:45962152T>G	ENST00000260324.7	+	4	818	c.432T>G	c.(430-432)gcT>gcG	p.A144A	SQRDL_ENST00000568606.1_Silent_p.A144A|RP11-96O20.4_ENST00000564080.1_Silent_p.A144A	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	144							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TTATTATTGCTCTCGGAATCC	0.433000													27	156					0	0	0.740014	0	0
PPP1R36	145376	broad.mit.edu	37	14	65041274	65041274	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:65041274C>T	ENST00000298705.1	+	8	731	c.635C>T	c.(634-636)gCc>gTc	p.A212V	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	212																	CTGGGCTTGGCCGTGCCGGAT	0.438000													4	105					0	0	0.184627	0	0
PRMT3	10196	broad.mit.edu	37	11	20483563	20483563	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:20483563G>T	ENST00000331079.6	+	12	1327	c.1110G>T	c.(1108-1110)gtG>gtT	p.V370V	PRMT3_ENST00000437750.2_Silent_p.V308V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	370							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTGTAGCAGTGAGTGATGTGA	0.373000													23	93					9.57634e-11	1.02224e-10	0.654019	1	0
MMD2	221938	broad.mit.edu	37	7	4947088	4947088	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:4947088T>C	ENST00000404774.3	-	7	946	c.752A>G	c.(751-753)tAc>tGc	p.Y251C	MMD2_ENST00000401401.3_Missense_Mutation_p.Y227C|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	251						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GATGGCATAGTAGTGGGTACC	0.537000													11	100					0	0	0.411799	0	0
ITSN1	6453	broad.mit.edu	37	21	35190747	35190747	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr21:35190747C>G	ENST00000381318.3	+	23	3192	c.2904C>G	c.(2902-2904)ctC>ctG	p.L968L	ITSN1_ENST00000399352.1_Silent_p.L963L|ITSN1_ENST00000437442.2_Silent_p.L963L|ITSN1_ENST00000399353.1_Silent_p.L926L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.L968L|ITSN1_ENST00000399349.1_Silent_p.L963L|ITSN1_ENST00000399367.3_Silent_p.L963L|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381285.4_Silent_p.L968L|ITSN1_ENST00000399326.3_Silent_p.L963L|ITSN1_ENST00000399355.2_Silent_p.L968L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	968	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACGTGAAACTCATTTCAGGGC	0.393000													57	79					0	0	0.870114	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	84					0	0	0.184627	0	0
RYR1	6261	broad.mit.edu	37	19	38997014	38997014	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:38997014G>T	ENST00000355481.4	+	55	8744	c.8613G>T	c.(8611-8613)ctG>ctT	p.L2871L	RYR1_ENST00000359596.3_Silent_p.L2871L|RYR1_ENST00000360985.3_Silent_p.L2871L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2871	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGGGAGCTGCAGGTGAGAG	0.592000													7	30					0.00198382	0.00202908	0.248553	1	0
ZNF816	125893	broad.mit.edu	37	19	53432295	53432295	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:53432295G>C	ENST00000549216.1	-	2	426	c.356C>G	c.(355-357)tCc>tGc	p.S119C	ZNF816_ENST00000434371.2_Missense_Mutation_p.S188C|ZNF321P_ENST00000391777.3_Missense_Mutation_p.S188C|ZNF816-ZNF321P_ENST00000313956.4_RNA	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CAAAATTAAGGAGGCATTGAT	0.378000													25	105					0	0	0.654019	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005206	102005206	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:102005206T>A	ENST00000372735.1	+	4	1868	c.1283T>A	c.(1282-1284)aTa>aAa	p.I428K	BHLHB9_ENST00000457056.1_Missense_Mutation_p.I428K|BHLHB9_ENST00000448867.1_Missense_Mutation_p.I428K|BHLHB9_ENST00000361229.4_Missense_Mutation_p.I428K|BHLHB9_ENST00000447531.1_Missense_Mutation_p.I428K			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	428						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGATTAAAGATACTAGGACAA	0.373000													49	47					0	0	0.870114	0	0
AUNIP	79000	broad.mit.edu	37	1	26161639	26161639	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:26161639G>C	ENST00000374298.3	-	3	973	c.919C>G	c.(919-921)Caa>Gaa	p.Q307E	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.Q307E	NM_024037.1	NP_076942.1			aurora kinase A and ninein interacting protein																		GTTACATCTTGAAAAGGAGCT	0.483000													134	144					0	0	0.870114	0	0
DCDC1	341019	broad.mit.edu	37	11	31329370	31329370	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:31329370G>C	ENST00000597505.1	-	2	249	c.250C>G	c.(250-252)Cat>Gat	p.H84D	DCDC1_ENST00000452803.1_Missense_Mutation_p.H84D|RP1-296L11.1_ENST00000528872.1_RNA			P59894	DCDC1_HUMAN	doublecortin domain containing 1	84					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCTGCTGAATGCACGAGTCTG	0.423000													39	149					0	0	0.827153	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764670	138764670	+	Silent	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:138764670G>C	ENST00000242351.5	-	4	1333	c.1017C>G	c.(1015-1017)ctC>ctG	p.L339L	ZC3HAV1_ENST00000464606.1_Silent_p.L339L|ZC3HAV1_ENST00000471652.1_Silent_p.L339L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	339					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCCATGCAAGAGGTCCTCTT	0.552000													24	113					0	0	0.667858	0	0
CD8A	925	broad.mit.edu	37	2	87013059	87013059	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:87013059G>A	ENST00000409511.2	-	9	1722	c.692C>T	c.(691-693)tCg>tTg	p.S231L	CD8A_ENST00000283635.3_Missense_Mutation_p.S231L|CD8A_ENST00000352580.3_Missense_Mutation_p.S194L|CD8A_ENST00000409781.1_Missense_Mutation_p.S194L|CD8A_ENST00000538832.1_Missense_Mutation_p.S272L|CD8A_ENST00000456996.2_Missense_Mutation_p.S194L	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	231					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GTATCTCGCCGAAAGGCTGGG	0.512000													40	132					0	0	0.853193	0	0
FYN	2534	broad.mit.edu	37	6	112017481	112017481	+	Splice_Site	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:112017481T>A	ENST00000354650.3	-	10	1647	c.1042_splice	c.e10+1	p.K347_splice	FYN_ENST00000229470.5_Splice_Site_p.K295_splice|FYN_ENST00000368678.4_Splice_Site_p.K344_splice|FYN_ENST00000356013.2_Splice_Site_p.K292_splice|FYN_ENST00000229471.4_Splice_Site_p.K292_splice|FYN_ENST00000368667.2_Splice_Site_p.K347_splice|FYN_ENST00000538466.1_Splice_Site_p.K344_splice|FYN_ENST00000368682.3_Splice_Site_p.K344_splice	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	347	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTGCCCAACCTTTGTTCATAT	0.488000													37	77					0	0	0.853193	0	0
HELZ2	85441	broad.mit.edu	37	20	62192759	62192759	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr20:62192759C>A	ENST00000467148.1	-	13	6966	c.6897G>T	c.(6895-6897)aaG>aaT	p.K2299N	HELZ2_ENST00000427522.2_Missense_Mutation_p.K1730N	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGTCAAAGGCCTTGATTTCCG	0.662000													4	157					0.000602214	0.000618304	0.184627	1	0
PACRGL	133015	broad.mit.edu	37	4	20711361	20711361	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:20711361C>G	ENST00000360916.5	+	5	722	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V	PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000503585.1_Missense_Mutation_p.L111V|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.L111V|PACRGL_ENST00000295290.8_Missense_Mutation_p.L111V|PACRGL_ENST00000444671.2_Intron	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	111							binding	p.L111V(1)		endometrium(2)|lung(7)|prostate(1)	10						TCCTGAAAGTCTTTCATTTGA	0.289000													16	82					0	0	0.557998	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60052041	60052041	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr18:60052041T>A	ENST00000586569.1	+	10	1663	c.1625T>A	c.(1624-1626)tTc>tAc	p.F542Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.F225Y	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	542					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GTGATGAACTTCAAGGGCGAC	0.642000													3	19					0	0	0.115264	0	0
PCDH7	5099	broad.mit.edu	37	4	30724333	30724333	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:30724333C>T	ENST00000361762.2	+	1	2297	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	PCDH7_ENST00000543491.1_Missense_Mutation_p.A430V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	430	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACGGGGTGGCCAACGTGGCC	0.617000													3	24					0	0	0.150653	0	0
ACP2	53	broad.mit.edu	37	11	47261735	47261735	+	Missense_Mutation	SNP	C	C	T	rs4647764		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:47261735C>T	ENST00000256997.3	-	11	1320	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I	ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000527256.1_Missense_Mutation_p.V370I|ACP2_ENST00000537863.1_Missense_Mutation_p.V215I|ACP2_ENST00000529444.1_Missense_Mutation_p.V339I|ACP2_ENST00000533929.1_Missense_Mutation_p.V374I	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	402			V -> I (in dbSNP:rs4647764).			integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CGGAAGAGGACGGTGAGGAGC	0.612000													9	40					0	0	0.361761	0	0
BIRC6	57448	broad.mit.edu	37	2	32733227	32733227	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:32733227C>G	ENST00000421745.2	+	51	10015	c.9881C>G	c.(9880-9882)tCa>tGa	p.S3294*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3294					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTAGGCCTTTCACAAATTAAA	0.438000													4	36					0	0	0.150653	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895566	45895566	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:45895566C>G	ENST00000418234.2	-	8	1465	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E463Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	463	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATCTCCGGCTCAGGCTCCAGC	0.642000													6	35					0	0	0.217242	0	0
PORCN	64840	broad.mit.edu	37	X	48370791	48370791	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:48370791T>A	ENST00000367574.4	+	5	743	c.238T>A	c.(238-240)Tcg>Acg	p.S80T	PORCN_ENST00000355961.4_Missense_Mutation_p.S151T|PORCN_ENST00000361988.3_Missense_Mutation_p.S151T|PORCN_ENST00000537758.1_Missense_Mutation_p.S151T|PORCN_ENST00000359882.4_Missense_Mutation_p.S151T|PORCN_ENST00000355092.3_Missense_Mutation_p.S151T|PORCN_ENST00000326194.6_Missense_Mutation_p.S151T			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	151	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACGGTGCCCTCGCCAGTGGA	0.607000													4	34					0	0	0.184627	0	0
RARG	5916	broad.mit.edu	37	12	53605612	53605612	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:53605612G>C	ENST00000425354.2	-	10	1700	c.1213C>G	c.(1213-1215)Cca>Gca	p.P405A	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.P383A|RARG_ENST00000394426.1_Missense_Mutation_p.P405A|RARG_ENST00000338561.5_Missense_Mutation_p.P394A|RARG_ENST00000327550.3_Missense_Mutation_p.P333A	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	405	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATCGGGCCTGGAATCTCCATC	0.547000													19	61					0	0	0.654019	0	0
TRMT10B	158234	broad.mit.edu	37	9	37776359	37776359	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:37776359G>C	ENST00000297994.3	+	8	866	c.801G>C	c.(799-801)caG>caC	p.Q267H	TRMT10B_ENST00000377753.2_Missense_Mutation_p.Q189H|TRMT10B_ENST00000377754.2_Missense_Mutation_p.Q172H|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Missense_Mutation_p.Q216H	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		TCAGAAACCAGAATGGGAAAA	0.453000													12	18					0	0	0.479597	0	0
HAND2	9464	broad.mit.edu	37	4	174449933	174449933	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:174449933C>T	ENST00000359562.4	-	1	1447	c.508G>A	c.(508-510)Gag>Aag	p.E170K	HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	170					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCTTGATCTCTGCCTTGAAG	0.612000													9	34					0	0	0.307466	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657648	8657648	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:8657648C>T	ENST00000270328.4	-	12	1852	c.1587_splice	c.e12+1	p.G529_splice	ADAMTS10_ENST00000597188.1_Splice_Site_p.G529_splice			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	529	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCGCTCACCCCCTTGTCGAT	0.682000													5	20					0	0	0.184627	0	0
KCNG3	170850	broad.mit.edu	37	2	42671137	42671137	+	Silent	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:42671137A>G	ENST00000306078.1	-	2	1843	c.1248T>C	c.(1246-1248)taT>taC	p.Y416Y	KCNG3_ENST00000394973.4_Silent_p.Y405Y	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	416						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TGAGCTCATGATAACACTGCA	0.388000													16	61					0	0	0.500413	0	0
MYOCD	93649	broad.mit.edu	37	17	12656440	12656440	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:12656440C>G	ENST00000425538.1	+	10	2035	c.1835C>G	c.(1834-1836)gCt>gGt	p.A612G	MYOCD_ENST00000343344.4_Missense_Mutation_p.A612G|MYOCD_ENST00000395988.1_Missense_Mutation_p.A516G	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	612					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTGGAAATGCTCATTGTGTG	0.512000													34	110					0	0	0.788014	0	0
B3GALTL	145173	broad.mit.edu	37	13	31821997	31821997	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:31821997C>G	ENST00000343307.4	+	6	502	c.353C>G	c.(352-354)tCt>tGt	p.S118C		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	118					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GTCAGTTTTTCTGTAACATAT	0.338000													6	14					0	0	0.248553	0	0
DICER1	23405	broad.mit.edu	37	14	95596530	95596530	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:95596530C>T	ENST00000526495.1	-	7	730		c.e7-1		DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000527414.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAATGAGAACCTAAAATAAAA	0.333000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				4	20					0	0	0.184627	0	0
WNT9A	7483	broad.mit.edu	37	1	228109319	228109319	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:228109319C>T	ENST00000272164.5	-	4	1008	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	333					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.R333Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCACCACCCGGCTCTGTGT	0.652000													8	38					0	0	0.307466	0	0
COL25A1	84570	broad.mit.edu	37	4	109783686	109783686	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:109783686A>C	ENST00000399132.1	-	22	1698	c.1168T>G	c.(1168-1170)Tca>Gca	p.S390A	COL25A1_ENST00000399126.1_Missense_Mutation_p.S390A|COL25A1_ENST00000399127.1_Intron	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	390	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTAGTTCCTGATTCACCTTGT	0.373000													110	221					0	0	0.870114	0	0
KLHDC10	23008	broad.mit.edu	37	7	129756398	129756398	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:129756398G>A	ENST00000335420.5	+	3	501	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	KLHDC10_ENST00000495724.1_3'UTR	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	123										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCCTGATAATGAAGACTATCC	0.478000													17	117					0	0	0.520397	0	0
PTGER4	5734	broad.mit.edu	37	5	40681496	40681496	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:40681496G>C	ENST00000302472.3	+	2	1425	c.401G>C	c.(400-402)cGa>cCa	p.R134P	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	134					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GTGGACAAGCGATTGGCGGGC	0.587000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	127					0	0	0.740014	0	0
BBS10	79738	broad.mit.edu	37	12	76740543	76740543	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:76740543C>T	ENST00000393262.3	-	2	1305	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	408					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TCATGTTGTTCAATGAGACCA	0.368000									Bardet-Biedl syndrome				17	43					0	0	0.500413	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188434	37188434	+	RNA	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:37188434C>T	ENST00000425901.2	+	0	2276					NR_033753.2																						GACTCAGCATCGAAACCTGAC	0.488000													31	134					0	0	0.760397	0	0
SHROOM2	357	broad.mit.edu	37	X	9862972	9862972	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:9862972G>C	ENST00000380913.3	+	4	1114	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	342					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGTGTTCTCAGAGGCGGCTGC	0.657000													6	28					0	0	0.248553	0	0
C5orf34	375444	broad.mit.edu	37	5	43503812	43503812	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:43503812T>G	ENST00000306862.2	-	5	1358	c.983A>C	c.(982-984)tAt>tCt	p.Y328S	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	328										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAGTTCAGGATAGGAATATTC	0.353000													26	112					0	0	0.681144	0	0
CELSR1	9620	broad.mit.edu	37	22	46785346	46785346	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:46785346C>T	ENST00000262738.3	-	18	6395	c.6396G>A	c.(6394-6396)ctG>ctA	p.L2132L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2132					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCACCAGCTGCAGGGCCCTGG	0.637000													9	36					0	0	0.411799	0	0
CXCL2	2920	broad.mit.edu	37	4	74964583	74964583	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:74964583G>A	ENST00000508487.2	-	2	329	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	53					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			TTCTTGAGGTGAATTCCCTGC	0.617000													31	142					0	0	0.769981	0	0
GPR50-AS1	100128688	broad.mit.edu	37	X	150345077	150345077	+	RNA	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:150345077C>G	ENST00000454196.1	-	0	541																											CTCTCTGACTCTCAGAGAGGG	0.577000													8	29					0	0	0.278610	0	0
AKT2	208	broad.mit.edu	37	19	40741810	40741810	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:40741810C>T	ENST00000392038.2	-	11	1460	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	AKT2_ENST00000579047.1_Missense_Mutation_p.D326N|AKT2_ENST00000311278.6_Missense_Mutation_p.D345N|AKT2_ENST00000424901.1_Missense_Mutation_p.D388N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	388	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGCTTGGGGTCCTTCTTAAGC	0.682000			A		"""ovarian, pancreatic """								3	22					0	0	0.150653	0	0
ANXA6	309	broad.mit.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:150512081C>T	ENST00000354546.5	-	10	919	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231Q|ANXA6_ENST00000523714.1_Missense_Mutation_p.R199Q|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	231						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552000													7	15					0	0	0.278610	0	0
COL14A1	7373	broad.mit.edu	37	8	121222028	121222028	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:121222028A>G	ENST00000297848.3	+	12	1625	c.1355A>G	c.(1354-1356)tAc>tGc	p.Y452C	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.Y357C|COL14A1_ENST00000537875.1_Missense_Mutation_p.Y452C|COL14A1_ENST00000309791.4_Missense_Mutation_p.Y452C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	452	Fibronectin type-III 3.				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)			CTTCTACTGTACGACGTGACT	0.453000													4	124					0	0	0.217242	0	0
PAF1	54623	broad.mit.edu	37	19	39879407	39879407	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:39879407C>G	ENST00000221265.3	-	9	1065	c.735G>C	c.(733-735)atG>atC	p.M245I	PAF1_ENST00000221266.7_Missense_Mutation_p.M212I|PAF1_ENST00000595564.1_Missense_Mutation_p.M235I	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	245					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTACCTAATCATGGCCTGAG	0.547000													14	34					0	0	0.435327	0	0
MARCH7	64844	broad.mit.edu	37	2	160623858	160623858	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:160623858A>G	ENST00000539065.1	+	8	2035	c.1903A>G	c.(1903-1905)Ata>Gta	p.I635V	MARCH7_ENST00000259050.3_3'UTR|MARCH7_ENST00000409175.1_3'UTR|MARCH7_ENST00000409591.1_3'UTR			Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	0							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GCCTAACTTCATATAAGACAG	0.328000													13	53					0	0	0.479597	0	0
EPHA5	2044	broad.mit.edu	37	4	66197845	66197845	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:66197845C>T	ENST00000273854.3	-	17	3454	c.2852_splice	c.e17-1	p.V952_splice	EPHA5_ENST00000511294.1_Splice_Site_p.V953_splice|EPHA5_ENST00000432638.2_Splice_Site_p.V789_splice|EPHA5_ENST00000354839.4_Splice_Site_p.V930_splice	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	952					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATTAGATACTCTAAAACAC	0.333000										TSP Lung(17;0.13)			3	24					0	0	0.115264	0	0
SHOC2	8036	broad.mit.edu	37	10	112760233	112760233	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:112760233G>C	ENST00000369452.4	+	4	1247	c.902G>C	c.(901-903)aGa>aCa	p.R301T	SHOC2_ENST00000265277.5_Missense_Mutation_p.R255T|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	301					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCAATACCCAGATCATTAGCA	0.323000													11	38					0	0	0.387290	0	0
USP7	7874	broad.mit.edu	37	16	8989591	8989591	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:8989591C>G	ENST00000344836.4	-	27	3025	c.2827G>C	c.(2827-2829)Gaa>Caa	p.E943Q	USP7_ENST00000535863.1_Missense_Mutation_p.E844Q|USP7_ENST00000381886.4_Missense_Mutation_p.E927Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	943					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTACAATTTCTAGCAGCCTG	0.333000													17	24					0	0	0.520397	0	0
MME	4311	broad.mit.edu	37	3	154832894	154832894	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:154832894G>A	ENST00000460393.1	+	4	428	c.308G>A	c.(307-309)cGt>cAt	p.R103H	MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Missense_Mutation_p.R103H|MME_ENST00000492661.1_Missense_Mutation_p.R103H|MME_ENST00000493237.1_Missense_Mutation_p.R103H|MME_ENST00000462745.1_Missense_Mutation_p.R103H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	103					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R103L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACCAGCTCCCGTTACGGCAAC	0.413000													20	83					0	0	0.592651	0	0
MIR381HG	378881	broad.mit.edu	37	14	101513657	101513657	+	RNA	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:101513657C>T	ENST00000553692.1	+	0	28				MIR539_ENST00000365690.2_RNA																							GCTGCTGTTTCATACTTGAGG	0.453000													30	35					0	0	0.769981	0	0
TMEM54	113452	broad.mit.edu	37	1	33360939	33360939	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:33360939C>G	ENST00000373463.3	-	5	680	c.561G>C	c.(559-561)ctG>ctC	p.L187L	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Silent_p.L134L	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	187						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAGGGCCTCAGCTCCAGCA	0.642000													12	9					0	0	0.479597	0	0
PARP4	143	broad.mit.edu	37	13	25008562	25008562	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:25008562A>G	ENST00000381989.3	-	31	4822	c.4717T>C	c.(4717-4719)Tgg>Cgg	p.W1573R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1573	Interaction with the major vault protein.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGTTCTGTCCAAGGCACAGCA	0.423000													14	60					0	0	0.435327	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048048	42048048	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:42048048delC	ENST00000372584.1	-	3	3435	c.2421delG	c.(2419-2421)gafs	p.E807fs	HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.E807fs|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.E807fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.E807fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	807	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AATCAGATTTCTCAAAGGAGC	0.562													61	56	---	---	---	---					
CNOT10	25904	broad.mit.edu	37	3	32758664	32758665	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:32758664_32758665insT	ENST00000328834.5	+	7	995_996	c.679_680insT	c.(679-681)ccafs	p.P227fs	CNOT10_ENST00000538368.1_5'UTR|CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.P227fs|CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.P287fs	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	227					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ACGAGCTTATATCCAAATGAAG	0.327													15	72	---	---	---	---					
POLR1C	9533	broad.mit.edu	37	6	43497022	43497022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:43497022delT	ENST00000304004.3	+	9	979	c.958delT	c.(958-960)gtfs	p.C320fs	XPO5_ENST00000265351.7_Intron			O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	0					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ggctcacacctgtaatcccag	0.473													9	26	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131189187	131189191	+	Frame_Shift_Del	DEL	AGAAG	AGAAG	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:131189187_131189191delAGAAG	ENST00000541194.1	-	9	1819_1823	c.1562_1566delCTTCT	c.(1561-1566)tfs	p.SS521fs	PODXL_ENST00000322985.9_Frame_Shift_Del_p.SS487fs|PODXL_ENST00000537928.1_Frame_Shift_Del_p.SS487fs|PODXL_ENST00000378555.3_Frame_Shift_Del_p.SS519fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	519					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CCTGCATCTCAGAAGAGGTCTCCAT	0.576													49	179	---	---	---	---					
PLAG1	5324	broad.mit.edu	37	8	57080731	57080731	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:57080731delT	ENST00000316981.3	-	4	577	c.98delA	c.(97-99)acfs	p.N33fs	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Frame_Shift_Del_p.N33fs	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	33	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCAAGGAAAGTTTTTTCTTGG	0.453			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								17	95	---	---	---	---					
ZNF618	114991	broad.mit.edu	37	9	116811467	116811476	+	Frame_Shift_Del	DEL	GCCGGCATGT	GCCGGCATGT	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:116811467_116811476delGCCGGCATGT	ENST00000288466.7	+	14	1705_1714	c.1606_1615delGCCGGCATGT	c.(1606-1617)gcfs	p.AGMC536fs	ZNF618_ENST00000374126.5_Frame_Shift_Del_p.AGMC629fs|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CTTCTCCAAGGCCGGCATGTGCCTTCGCTG	0.624													8	112	---	---	---	---					
PAPSS2	9060	broad.mit.edu	37	10	89472945	89472946	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:89472945_89472946delAG	ENST00000361175.4	+	3	628_629	c.259_260delAG	c.(259-261)afs	p.R87fs	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Frame_Shift_Del_p.R87fs|PAPSS2_ENST00000427144.2_Frame_Shift_Del_p.R91fs	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	87					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGGCCTTAACAGAAATCTCGGA	0.510													20	114	---	---	---	---					
OVCH2	341277	broad.mit.edu	37	11	7720159	7720160	+	RNA	INS	-	-	T	rs71470493	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:7720159_7720160insT	ENST00000454689.1	-	0	925				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GGCATAATGGCTGTAGGTGCTC	0.475													4	4	---	---	---	---					
DDX11	1663	broad.mit.edu	37	12	31255240	31255241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:31255240_31255241insT	ENST00000407793.2	+	22	2517_2518	c.2266_2267insT	c.(2266-2268)ccafs	p.P756fs	DDX11_ENST00000228264.6_Frame_Shift_Ins_p.P730fs|DDX11_ENST00000545668.1_Frame_Shift_Ins_p.P756fs|DDX11_ENST00000542838.1_Frame_Shift_Ins_p.P756fs|DDX11_ENST00000350437.4_Frame_Shift_Ins_p.P706fs|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	756					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCCAGGTGCATCCAGGTGCGG	0.559										Multiple Myeloma(12;0.14)			21	91	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gca>gAGAca	p.152_152A>ET		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	152										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.520													4	3	---	---	---	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)del	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626													7	82	---	---	---	---					
KRTAP2-1	81872	broad.mit.edu	37	17	39203184	39203184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:39203184delG	ENST00000391419.3	-	1	384	c.336delC	c.(334-336)ccfs	p.P112fs	KRTAP2-1_ENST00000542137.1_Intron	NM_001123387.1	NP_001116859.1	Q9BYU5	KRA21_HUMAN	keratin associated protein 2-1	112	10 X 5 AA repeats of C-C-[CDPQRWG]- [APRS]-[CIPSTVD].					keratin filament											GCTGGCCGCAGGGGGGCCGGC	0.716													2	4	---	---	---	---					
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	-	CCG	rs141478862	by1000genomes	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:56089908_56089909insCCG	ENST00000325421.4	-	2	1125_1126	c.1097_1098insCGG	c.(1096-1098)gca>gCGGca	p.366_366A>AA		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	366	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G366_Q367insG(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748													4	2	---	---	---	---					
HELZ2	85441	broad.mit.edu	37	20	62193250	62193251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr20:62193250_62193251insG	ENST00000467148.1	-	11	6685_6686	c.6616_6617insC	c.(6616-6618)tggfs	p.W2206fs	HELZ2_ENST00000427522.2_Frame_Shift_Ins_p.W1637fs	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CTTCTCCCCACGGGGGGGGCCT	0.649													2	4	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50213559	50213570	+	RNA	DEL	GGCGGAGCCGGT	GGCGGAGCCGGT	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:50213559_50213570delGGCGGAGCCGGT	ENST00000376025.2	-	0	167_178							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					cggagccggcggcggagccggtggtggtggcg	0.712													9	26	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53563587	53563589	+	In_Frame_Del	DEL	CCA	CCA	-	rs426298	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:53563587_53563589delCCA	ENST00000342160.3	-	78	12634_12636	c.12177_12179delTGG	c.(12175-12180)ggg>gg	p.GG4059del	HUWE1_ENST00000262854.6_In_Frame_Del_p.GG4059del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4059	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCGCAGGAGCCCACCAGCATCCT	0.473													14	58	---	---	---	---