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
TAB3	257397	broad.mit.edu	37	X	30870918	30870918	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:30870918T>A	ENST00000378933.1	-	4	1864	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	TAB3_ENST00000378930.3_Missense_Mutation_p.S563C|TAB3_ENST00000288422.2_Missense_Mutation_p.S563C|TAB3_ENST00000378928.1_Missense_Mutation_p.S14C|TAB3_ENST00000378932.2_Missense_Mutation_p.S563C	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	563					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTGGTGCAGCTGACTCTTCTG	0.458000													4	59					0	0	0.014758	0	0
SUPT3H	8464	broad.mit.edu	37	6	44797554	44797554	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:44797554C>G	ENST00000371460.1	-	13	1303	c.986G>C	c.(985-987)tGa>tCa	p.*329S	SUPT3H_ENST00000371458.1_Silent_p.L107L|SUPT3H_ENST00000371459.1_Nonstop_Mutation_p.*318S|SUPT3H_ENST00000306867.5_Nonstop_Mutation_p.*318S|SUPT3H_ENST00000371461.2_Nonstop_Mutation_p.*329S	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	0					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GTTGTCACATCAGCAGGCTAG	0.368000													17	120					0	0	0.006122	0	0
VWF	7450	broad.mit.edu	37	12	6085359	6085359	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:6085359G>C	ENST00000261405.5	-	43	7609	c.7355C>G	c.(7354-7356)aCc>aGc	p.T2452S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2452	VWFC 2.				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)	GTCGGTGCAGGTGCACACATC	0.607000													4	89					0	0	0.009096	0	0
P2RX3	5024	broad.mit.edu	37	11	57135555	57135555	+	Silent	SNP	C	C	T	rs150261482		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:57135555C>T	ENST00000263314.2	+	9	949	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	305					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCATCCGCTTCGACGTGCTGG	0.567000													4	44					0	0	0.014758	0	0
RIF1	55183	broad.mit.edu	37	2	152321463	152321463	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:152321463C>T	ENST00000243326.5	+	29	5912	c.5429C>T	c.(5428-5430)tCa>tTa	p.S1810L	RIF1_ENST00000430328.2_Missense_Mutation_p.S1810L|RIF1_ENST00000444746.2_Missense_Mutation_p.S1810L|RIF1_ENST00000453091.2_Missense_Mutation_p.S1810L|RIF1_ENST00000428287.2_Missense_Mutation_p.S1810L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTAATGATTCATTAATTGTT	0.303000													8	49					0	0	0.004482	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998745	27998745	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:27998745C>A	ENST00000441525.1	-	1	821	c.707G>T	c.(706-708)aGt>aTt	p.S236I		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	236										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ATCGTGACCACTCTCAAAGTT	0.517000													9	45					2.74318e-10	3.08896e-10	0.006214	1	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.470A>G	c.(469-471)cAt>cGt	p.H157R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|AGAP10_ENST00000452145.2_Splice_Site_p.H132R|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													4	31					0	0	0.001168	0	0
MCM3AP	8888	broad.mit.edu	37	21	47678906	47678906	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:47678906C>G	ENST00000397708.1	-	17	3935	c.3681G>C	c.(3679-3681)caG>caC	p.Q1227H	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q1227H			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1227					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTTTGCAGTCTGGAAGATTT	0.537000													5	81					0	0	0.001168	0	0
CDH20	28316	broad.mit.edu	37	18	59206358	59206358	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:59206358G>C	ENST00000262717.4	+	9	1908	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	CDH20_ENST00000538374.1_Missense_Mutation_p.E504Q|CDH20_ENST00000536675.2_Missense_Mutation_p.E504Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	504	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTTGTCTGTGAGAACGCCAA	0.463000													20	121					0	0	0.014323	0	0
FBXO4	26272	broad.mit.edu	37	5	41929974	41929974	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:41929974G>A	ENST00000296812.2	+	3	657	c.601G>A	c.(601-603)Gag>Aag	p.E201K	FBXO4_ENST00000281623.3_Missense_Mutation_p.E201K|FBXO4_ENST00000509134.1_Missense_Mutation_p.E201K	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	201					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GATGTCTTCAGAGGAACTTTG	0.398000													56	170					0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	90106693	90106693	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:90106693G>A	ENST00000405460.2	+	74	15712	c.15616G>A	c.(15616-15618)Gat>Aat	p.D5206N	GPR98_ENST00000425867.2_Missense_Mutation_p.D867N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5206					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAAAGCCTGATGTGGCCAC	0.463000													5	50					0	0	0.001168	0	0
FAM135B	51059	broad.mit.edu	37	8	139268995	139268995	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:139268995T>A	ENST00000395297.1	-	5	475	c.305A>T	c.(304-306)gAc>gTc	p.D102V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	102										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCAGTGCGTCTTCCATCTG	0.403000										HNSCC(54;0.14)			4	17					0	0	0.009096	0	0
PKD1L1	168507	broad.mit.edu	37	7	47924229	47924229	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:47924229G>C	ENST00000289672.2	-	19	3282	c.3232C>G	c.(3232-3234)Caa>Gaa	p.Q1078E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1078	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTGCTTCTTGAATGTCACTG	0.448000													7	34					0	0	0.003080	0	0
CR2	1380	broad.mit.edu	37	1	207639892	207639892	+	Missense_Mutation	SNP	C	C	T	rs150906379		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:207639892C>T	ENST00000367057.3	+	2	269	c.80C>T	c.(79-81)cCg>cTg	p.P27L	CR2_ENST00000458541.2_Missense_Mutation_p.P27L|CR2_ENST00000367059.3_Missense_Mutation_p.P27L|CR2_ENST00000367058.3_Missense_Mutation_p.P27L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	27	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGCTCTCCTCCGCCTATCCTA	0.413000													12	131					0	0	0.016723	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029212	41029212	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:41029212G>A	ENST00000244669.2	+	2	321	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	93					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTAGAGGATGAGCATGCGGC	0.577000													20	82					0	0	0.007413	0	0
RAD50	10111	broad.mit.edu	37	5	131931309	131931309	+	Nonsense_Mutation	SNP	C	C	T	rs142947311		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:131931309C>T	ENST00000378823.3	+	13	2415	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	RAD50_ENST00000265335.6_Nonsense_Mutation_p.Q672*	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	672					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTCATTACTCAGCTAACAGA	0.383000								Homologous recombination					5	46					0	0	0.014758	0	0
NPY4R	5540	broad.mit.edu	37	10	47087272	47087272	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:47087272C>A	ENST00000374312.1	+	3	908	c.489C>A	c.(487-489)atC>atA	p.I163I	NPY4R_ENST00000395716.1_Silent_p.I163I	NM_005972.4	NP_005963.4			neuropeptide Y receptor Y4																		TTGTGCTCATCTGGGTCATTG	0.587000													6	90					0.00116845	0.00124263	0.001168	1	0
GLIS1	148979	broad.mit.edu	37	1	54059901	54059901	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:54059901C>G	ENST00000312233.2	-	3	1241	c.675G>C	c.(673-675)aaG>aaC	p.K225N		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	225					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGTCCTCGCCCTTGCGCTGGT	0.662000													3	20					0	0	0.004672	0	0
CARD17	440068	broad.mit.edu	37	11	104971361	104971361	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:104971361C>T	ENST00000375707.1	-	2	169	c.153G>A	c.(151-153)atG>atA	p.M51I	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GGGCCTTATCCATAACTGTAG	0.443000													16	84					0	0	0.004007	0	0
CCNH	902	broad.mit.edu	37	5	86700789	86700789	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:86700789C>G	ENST00000508855.1	-	4	391	c.339G>C	c.(337-339)ttG>ttC	p.L113F	CCNH_ENST00000256897.4_Missense_Mutation_p.L187F|CCNH_ENST00000504878.1_Missense_Mutation_p.L113F|CCNH_ENST00000513499.1_5'UTR			P51946	CCNH_HUMAN	cyclin H	187					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CTGTTTTCCTCAAAATCTCTG	0.373000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					5	63					0	0	0.003080	0	0
ZNF577	84765	broad.mit.edu	37	19	52376173	52376173	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:52376173C>G	ENST00000420592.1	-	6	2226	c.893G>C	c.(892-894)aGa>aCa	p.R298T	ZNF577_ENST00000451628.2_Missense_Mutation_p.R298T|ZNF577_ENST00000301399.5_Missense_Mutation_p.R357T|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCACATTCTCTGCATGAATA	0.428000													4	83					0	0	0.009096	0	0
EMILIN2	84034	broad.mit.edu	37	18	2913063	2913063	+	Splice_Site	SNP	A	A	C	rs113730111		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:2913063A>C	ENST00000254528.3	+	8	2983		c.e8-1		EMILIN2_ENST00000308080.5_Splice_Site	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2						cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTCTCCCCGCAGGGGTCTTCA	0.617000													4	39					0	0	0.009096	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263313	232263313	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:232263313C>T	ENST00000287590.5	+	2	1144	c.883C>T	c.(883-885)Ccg>Tcg	p.P295S		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	295					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCCAGCTATCCGCCGTATGC	0.647000													4	25					0	0	0.009096	0	0
SCN4A	6329	broad.mit.edu	37	17	62038715	62038715	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:62038715G>A	ENST00000578147.1	-	11	1759	c.1683C>T	c.(1681-1683)tgC>tgT	p.C561C	SCN4A_ENST00000435607.1_Silent_p.C561C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	561					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCCACGGGGCGCAGCAGTTCC	0.562000													9	197					0	0	0.008291	0	0
GRIA1	2890	broad.mit.edu	37	5	153144153	153144153	+	Nonsense_Mutation	SNP	C	C	A	rs149931571	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:153144153C>A	ENST00000285900.5	+	12	2326	c.1983C>A	c.(1981-1983)taC>taA	p.Y661*	GRIA1_ENST00000518142.1_Nonsense_Mutation_p.Y581*|GRIA1_ENST00000521843.2_Nonsense_Mutation_p.Y592*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.Y661*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.Y671*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.Y671*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	661					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAATTGCCTACGGGACGCTGG	0.502000													3	34					0.004672	0.004891	0.004672	1	0
FIP1L1	81608	broad.mit.edu	37	4	54280809	54280809	+	Silent	SNP	A	A	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:54280809A>C	ENST00000507166.1	+	11	843	c.843A>C	c.(841-843)acA>acC	p.T281T	FIP1L1_ENST00000358575.5_Silent_p.T266T|FIP1L1_ENST00000507922.1_Silent_p.T266T|FIP1L1_ENST00000306932.6_Intron|FIP1L1_ENST00000337488.6_Silent_p.T281T			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	281	Necessary for stimulating PAPOLA activity.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTCTCAGACAAGTACTGCCT	0.403000			T	PDGFRA	idiopathic hypereosinophilic syndrome								6	24					0	0	0.003080	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458068	20458068	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:20458068G>A	ENST00000426804.1	-	1	3718	c.3234C>T	c.(3232-3234)ttC>ttT	p.F1078F		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGAGTGTGTCGAAGGTGACGG	0.662000													4	35					0	0	0.009096	0	0
CSMD2	114784	broad.mit.edu	37	1	34166205	34166205	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:34166205C>T	ENST00000373381.4	-	23	3821	c.3645G>A	c.(3643-3645)gtG>gtA	p.V1215V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.V88V	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1175	Sushi 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTCAAAGTCACCCCCATCA	0.483000													12	85					0	0	0.016723	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122287	31122287	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:31122287G>A	ENST00000396268.3	-	4	975	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Silent_p.L227L|CCHCR1_ENST00000376266.5_Silent_p.L174L|CCHCR1_ENST00000396263.2_Silent_p.L174L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	174					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCTTGGTGCAGCCTCTGAACC	0.547000													22	474					0	0	0.014323	0	0
SLC25A25	114789	broad.mit.edu	37	9	130868072	130868072	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:130868072G>A	ENST00000373066.5	+	7	1213	c.806G>A	c.(805-807)gGa>gAa	p.G269E	SLC25A25_ENST00000373069.5_Missense_Mutation_p.G283E|SLC25A25_ENST00000373064.5_Missense_Mutation_p.G237E|SLC25A25_ENST00000432073.2_Missense_Mutation_p.G257E|SLC25A25_ENST00000433501.1_Missense_Mutation_p.G134E|SLC25A25_ENST00000373068.2_Missense_Mutation_p.G271E	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	237					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						ATTCGAGAAGGAGGGGCCAGG	0.587000													15	75					0	0	0.003163	0	0
AHNAK	79026	broad.mit.edu	37	11	62290726	62290726	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62290726G>C	ENST00000378024.4	-	5	11437	c.11163C>G	c.(11161-11163)atC>atG	p.I3721M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3721					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGAGCCTTCGATGTTAATGT	0.458000													9	153					0	0	0.006214	0	0
FAM120C	54954	broad.mit.edu	37	X	54185903	54185903	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:54185903C>G	ENST00000375180.2	-	2	902	c.846G>C	c.(844-846)tgG>tgC	p.W282C	FAM120C_ENST00000328235.4_Missense_Mutation_p.W282C	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	282										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTTCCCATTCCAGCTCAGTT	0.488000													4	89					0	0	0.009096	0	0
MKRN3	7681	broad.mit.edu	37	15	23811314	23811314	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:23811314G>A	ENST00000314520.3	+	1	861	c.385G>A	c.(385-387)Gag>Aag	p.E129K	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	129						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GATGGCCACTGAGGGTGGCGT	0.622000													5	42					0	0	0.001984	0	0
WNK3	65267	broad.mit.edu	37	X	54265377	54265377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:54265377C>T	ENST00000354646.2	-	18	4245	c.3807G>A	c.(3805-3807)tgG>tgA	p.W1269*	WNK3_ENST00000375159.2_Nonsense_Mutation_p.W1269*|WNK3_ENST00000375169.3_Intron	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1247					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATTTGCGAGTCCAGGATTTCT	0.453000													8	41					0	0	0.004482	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856883	72856883	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:72856883C>G	ENST00000339594.4	-	19	4433	c.4095G>C	c.(4093-4095)agG>agC	p.R1365S	BAZ1B_ENST00000404251.1_Splice_Site_p.R1365S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1365	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCACAGGCTCCCTGTGGAGAA	0.552000													8	63					0	0	0.003080	0	0
MFAP2	4237	broad.mit.edu	37	1	17303274	17303274	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:17303274G>A	ENST00000375535.3	-	5	459	c.170C>T	c.(169-171)cCc>cTc	p.P57L	MFAP2_ENST00000375534.3_Missense_Mutation_p.P56L|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.P56L			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	57						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TTCCTCGGAGGGCCGAGGAGT	0.667000													4	89					0	0	0.009096	0	0
ZNF214	7761	broad.mit.edu	37	11	7021340	7021340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:7021340G>A	ENST00000278314.4	-	3	1889	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	ZNF214_ENST00000536068.1_Missense_Mutation_p.P525L	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ACATTTATAGGGCTTTTCTCC	0.423000													8	67					0	0	0.003080	0	0
ROCK2	9475	broad.mit.edu	37	2	11348013	11348013	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:11348013T>C	ENST00000315872.6	-	20	2836	c.2388A>G	c.(2386-2388)atA>atG	p.I796M	ROCK2_ENST00000401753.1_Missense_Mutation_p.I553M	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	796					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTCTTGCTCTATTTTTAATG	0.308000													5	78					0	0	0.001168	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798793	55798793	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:55798793C>T	ENST00000313555.1	+	1	899	c.899C>T	c.(898-900)gCt>gTt	p.A300V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTGAAAAATGCTCTCAAAAAG	0.308000													8	32					0	0	0.003080	0	0
PRTN3	5657	broad.mit.edu	37	19	843531	843531	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:843531C>T	ENST00000544537.2	+	1	191	c.9C>T	c.(7-9)tcC>tcT	p.S3S	PRTN3_ENST00000234347.5_Silent_p.S44S			P24158	PRTN3_HUMAN	proteinase 3	44					collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATGGCCTCCCTGCAGATGC	0.706000													3	4					0	0	0.009096	0	0
RARRES3	5920	broad.mit.edu	37	11	63312303	63312303	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:63312303G>T	ENST00000439013.2	+	3	382	c.329G>T	c.(328-330)aGc>aTc	p.S110I	RARRES3_ENST00000255688.3_Missense_Mutation_p.S110I|RARRES3_ENST00000354445.2_Missense_Mutation_p.S110I|RARRES3_ENST00000537871.1_3'UTR			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	110					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AGTATTGTGAGCAGGAACTGT	0.512000													9	132					0.000442599	0.000474467	0.006214	1	0
FN1	2335	broad.mit.edu	37	2	216259329	216259329	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:216259329C>T	ENST00000354785.4	-	24	4087	c.3718G>A	c.(3718-3720)Ggc>Agc	p.G1240S	FN1_ENST00000446046.1_Missense_Mutation_p.G1240S|FN1_ENST00000443816.1_Missense_Mutation_p.G1240S|FN1_ENST00000421182.1_Missense_Mutation_p.G1240S|FN1_ENST00000356005.4_Missense_Mutation_p.G1240S|FN1_ENST00000323926.6_Missense_Mutation_p.G1240S|FN1_ENST00000336916.4_Missense_Mutation_p.G1240S|FN1_ENST00000432072.2_Missense_Mutation_p.G1240S|FN1_ENST00000359671.1_Missense_Mutation_p.G1240S|FN1_ENST00000346544.3_Missense_Mutation_p.G1240S|FN1_ENST00000357009.2_Missense_Mutation_p.G1240S|FN1_ENST00000345488.5_Missense_Mutation_p.G1240S|FN1_ENST00000357867.4_Missense_Mutation_p.G1240S			P02751	FINC_HUMAN	fibronectin 1	1240	Fibronectin type-III 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACTCCAGGCCGGGACTCAGG	0.453000													7	145					0	0	0.004482	0	0
CXorf23	256643	broad.mit.edu	37	X	19973521	19973521	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:19973521G>A	ENST00000379687.3	-	4	1471	c.1438C>T	c.(1438-1440)Cat>Tat	p.H480Y	CXorf23_ENST00000379682.4_Missense_Mutation_p.H480Y|CXorf23_ENST00000356980.3_Missense_Mutation_p.H480Y	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	480						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TTAACTTGATGGATTATTGTT	0.338000													6	50					0	0	0.001984	0	0
OTOF	9381	broad.mit.edu	37	2	26750716	26750716	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:26750716T>C	ENST00000272371.2	-	3	337	c.211A>G	c.(211-213)Aaa>Gaa	p.K71E	OTOF_ENST00000403946.3_Missense_Mutation_p.K71E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	71					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAAGACTTTGCTGTAGTTG	0.582000													7	64					0	0	0.003080	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186206	5186206	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:5186206G>A	ENST00000274181.7	+	5	943	c.805G>A	c.(805-807)Gat>Aat	p.D269N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.D269N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	269					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATCTTGCCAGATGAGTATAA	0.498000													61	166					0	0	0.014410	0	0
TGM1	7051	broad.mit.edu	37	14	24727874	24727874	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:24727874G>A	ENST00000206765.6	-	8	1288	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	389			R -> H (in NCIE).|R -> P (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCAGGCAGCGCAGCACTGTG	0.567000													4	38					0	0	0.009096	0	0
CDH11	1009	broad.mit.edu	37	16	64984875	64984875	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:64984875C>T	ENST00000394156.3	-	12	2142	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	CDH11_ENST00000566827.1_Silent_p.Q437Q|CDH11_ENST00000268603.4_Silent_p.Q563Q			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	563	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGTCCTGCTTCTGCCGACTGA	0.592000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			11	32					0	0	0.013537	0	0
GYPC	2995	broad.mit.edu	37	2	127447889	127447889	+	Splice_Site	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:127447889T>A	ENST00000259254.4	+	2	437		c.e2+2		GYPC_ENST00000409836.3_Intron|GYPC_ENST00000464053.1_Splice_Site|GYPC_ENST00000356887.7_Splice_Site	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)							cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCATTGCAGGTGAGTTCTCAT	0.527000													3	41					0	0	0.004672	0	0
EVI5L	115704	broad.mit.edu	37	19	7917998	7917998	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:7917998G>C	ENST00000270530.4	+	9	1210	c.1014G>C	c.(1012-1014)caG>caC	p.Q338H	EVI5L_ENST00000538904.2_Missense_Mutation_p.Q338H	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	338						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TCCCCCACCAGTTCGACAGCT	0.617000											OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	161					0	0	0.004482	0	0
TMLHE	55217	broad.mit.edu	37	X	154743794	154743794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:154743794G>T	ENST00000334398.3	-	4	636	c.491C>A	c.(490-492)tCg>tAg	p.S164*	TMLHE_ENST00000369439.4_Nonsense_Mutation_p.S164*|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	164					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCAATCTACCGATGGAACTTG	0.433000													6	109					0.00198382	0.00210144	0.001984	1	0
KRT28	162605	broad.mit.edu	37	17	38955182	38955182	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:38955182C>A	ENST00000306658.7	-	2	585	c.520G>T	c.(520-522)Gat>Tat	p.D174Y		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	174	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCCTGAAATCATCAGCAGCC	0.323000													6	122					1.26484e-09	1.41832e-09	0.003080	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26431130	26431130	+	RNA	SNP	G	G	A	rs141732335	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:26431130G>A	ENST00000466808.2	+	0	1447																											GGAGAGCTTCGCCTCAGGGAA	0.517000													13	127					0	0	0.016723	0	0
MMP16	4325	broad.mit.edu	37	8	89130948	89130948	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:89130948C>A	ENST00000286614.6	-	5	1133	c.852G>T	c.(850-852)caG>caT	p.Q284H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	284					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCTGGATGCCCTGTAAATCAT	0.403000													10	56					0.000673444	0.000719056	0.008291	1	0
C5orf38	153571	broad.mit.edu	37	5	2755233	2755233	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:2755233G>A	ENST00000397835.4	+	3	424	c.424G>A	c.(424-426)Gga>Aga	p.G142R	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	0						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		AGCCGGCCCCGGAGGCTCGGG	0.701000													16	33					0	0	0.003163	0	0
CUBN	8029	broad.mit.edu	37	10	17087133	17087133	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:17087133G>C	ENST00000377833.4	-	25	3610	c.3545C>G	c.(3544-3546)cCg>cGg	p.P1182R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1182	CUB 7.				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)	ATAGGGCATCGGGTAGTTGGG	0.493000													7	61					0	0	0.003080	0	0
MTMR12	54545	broad.mit.edu	37	5	32230145	32230145	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:32230145C>T	ENST00000382142.3	-	16	2153	c.1983G>A	c.(1981-1983)ctG>ctA	p.L661L	MTMR12_ENST00000264934.5_Silent_p.L551L|MTMR12_ENST00000280285.5_Silent_p.L607L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	661						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGAGTTTGCTCAGAGTGGCCA	0.572000													9	184					0	0	0.008291	0	0
RBKS	64080	broad.mit.edu	37	2	28081337	28081337	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:28081337C>T	ENST00000302188.3	-	2	943	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	RBKS_ENST00000444339.2_Missense_Mutation_p.R64Q	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	64					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TGCTCCAAGCCGAGCAGCTTG	0.438000													4	45					0	0	0.009096	0	0
TRH	7200	broad.mit.edu	37	3	129695896	129695896	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:129695896G>T	ENST00000302649.3	+	3	1093	c.566G>T	c.(565-567)gGc>gTc	p.G189V	TRH_ENST00000507066.1_Missense_Mutation_p.G185V	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	189					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CAGCATCCGGGCAAGAGGGCC	0.622000													10	41					1.58986e-06	1.76068e-06	0.008291	1	0
PACS1	55690	broad.mit.edu	37	11	65977851	65977851	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:65977851C>T	ENST00000320580.4	+	3	496	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	155					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAGAATTCTTCGCTCCAACGA	0.498000													14	56					0	0	0.020292	0	0
MUC17	140453	broad.mit.edu	37	7	100682288	100682288	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:100682288G>C	ENST00000306151.4	+	3	7655	c.7591G>C	c.(7591-7593)Gag>Cag	p.E2531Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2531	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTCCTGAGGCTAGCAC	0.478000													47	341					0	0	0.014410	0	0
IRS4	8471	broad.mit.edu	37	X	107978480	107978480	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:107978480C>G	ENST00000372129.2	-	1	1171	c.1095G>C	c.(1093-1095)ccG>ccC	p.P365P		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	365						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCGGCTCGAGCGGCACCAAGC	0.637000													16	156					0	0	0.004007	0	0
SPPL2A	84888	broad.mit.edu	37	15	51041038	51041038	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:51041038G>A	ENST00000261854.5	-	3	481	c.207C>T	c.(205-207)tcC>tcT	p.S69S	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	69	PA.					integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATAGTGGTGTGGAAGTCAGAT	0.353000													11	106					0	0	0.013537	0	0
MPDZ	8777	broad.mit.edu	37	9	13147624	13147624	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:13147624C>T	ENST00000319217.7	-	26	3911	c.3664G>A	c.(3664-3666)Gaa>Aaa	p.E1222K	MPDZ_ENST00000546205.1_Missense_Mutation_p.E1236K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1222K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E114K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1222K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1222K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1222K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1222K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1222	PDZ 7.				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)		ACAGCTTGTTCATGGCTTGCA	0.443000													8	62					0	0	0.003080	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163852	12163852	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:12163852G>A	ENST00000379388.2	+	9	7647	c.7315G>A	c.(7315-7317)Ggt>Agt	p.G2439S	HIVEP1_ENST00000541134.1_Missense_Mutation_p.G304S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2439					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGAACTTTGGGTACTCATAG	0.517000													27	72					0	0	0.005443	0	0
AP2A1	160	broad.mit.edu	37	19	50303343	50303343	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:50303343G>A	ENST00000354293.5	+	11	1557	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	AP2A1_ENST00000359032.5_Missense_Mutation_p.R464H	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	464					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTGTGGTACCGTGTGCTACAG	0.592000													5	17					0	0	0.014758	0	0
ZNF836	162962	broad.mit.edu	37	19	52658463	52658463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:52658463G>A	ENST00000322146.8	-	5	2994	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*	ZNF836_ENST00000597252.1_Nonsense_Mutation_p.Q825*|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	825					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCATTTTCTGATGATTAACC	0.398000													26	132					0	0	0.006320	0	0
LGALS7B	653499	broad.mit.edu	37	19	39281455	39281455	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:39281455G>A	ENST00000314980.4	+	3	238	c.222G>A	c.(220-222)gaG>gaA	p.E74E		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	74	Beta-galactoside binding (Potential).|Galectin.				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding										GCCGCGAGGAGCGCGGGCCGG	0.677000													3	19					0	0	0.014758	0	0
GLI4	2738	broad.mit.edu	37	8	144351566	144351566	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:144351566G>A	ENST00000340042.1	+	0	85				GLI4_ENST00000521682.1_De_novo_Start_InFrame|GLI4_ENST00000344692.3_De_novo_Start_InFrame|GLI4_ENST00000523522.1_De_novo_Start_InFrame|ZFP41_ENST00000522452.1_Intron|GLI4_ENST00000517468.1_De_novo_Start_InFrame	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4							nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TCTCAGGGAAGATGGCAGCCC	0.597000													16	174					0	0	0.006122	0	0
WDR36	134430	broad.mit.edu	37	5	110462533	110462533	+	Silent	SNP	C	C	T	rs79307023		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:110462533C>T	ENST00000506538.2	+	23	3381	c.2808C>T	c.(2806-2808)ttC>ttT	p.F936F	WDR36_ENST00000513710.2_Silent_p.F936F	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	936					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AATCACTCTTCAATCAAAGCA	0.323000													5	35					0	0	0.014758	0	0
CSNK1D	1453	broad.mit.edu	37	17	80223620	80223620	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:80223620T>C	ENST00000314028.6	-	2	478	c.129A>G	c.(127-129)aaA>aaG	p.K43K	CSNK1D_ENST00000398519.5_Silent_p.K43K|CSNK1D_ENST00000392334.2_Silent_p.K43K	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	43	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GGTGTTTGGTTTTGACACATT	0.463000													7	127					0	0	0.003080	0	0
DNAH2	146754	broad.mit.edu	37	17	7721269	7721269	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:7721269G>C	ENST00000572933.1	+	68	11702	c.10242G>C	c.(10240-10242)ctG>ctC	p.L3414L	DNAH2_ENST00000389173.2_Silent_p.L3414L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3414	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTAGGGCCTGAAGATCATCG	0.577000													13	103					0	0	0.003163	0	0
AGBL5	60509	broad.mit.edu	37	2	27279587	27279587	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:27279587G>A	ENST00000360131.4	+	8	1621	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	AGBL5_ENST00000323064.8_Missense_Mutation_p.D488N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	488					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTATGCCCGAGACCGTAGAGA	0.478000													13	114					0	0	0.016723	0	0
DLG3	1741	broad.mit.edu	37	X	69670626	69670626	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:69670626C>T	ENST00000194900.4	+	7	1373	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	DLG3_ENST00000374360.3_Silent_p.Y326Y			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	326					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.Y326Y(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCCCTGACTACGCCAGCAGTA	0.532000													4	55					0	0	0.014758	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966808	41966808	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:41966808G>C	ENST00000298919.7	+	10	1835	c.1447G>C	c.(1447-1449)Gag>Cag	p.E483Q	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E743Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E485Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	743	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding	p.E485K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAACACAGCTGAGAGCTGCAG	0.458000													9	60					0	0	0.006214	0	0
C1orf173	127254	broad.mit.edu	37	1	75036915	75036915	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:75036915C>T	ENST00000326665.5	-	14	4697	c.4479G>A	c.(4477-4479)gcG>gcA	p.A1493A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1493										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGTTGCCATCGCCTGTAGAC	0.522000													13	150					0	0	0.020292	0	0
ANXA5	308	broad.mit.edu	37	4	122591161	122591161	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:122591161G>C	ENST00000296511.5	-	11	1013	c.728C>G	c.(727-729)tCt>tGt	p.S243C	ANXA5_ENST00000515017.1_Missense_Mutation_p.S143C|ANXA5_ENST00000501272.2_Missense_Mutation_p.S183C	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	243					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						ACTTCGAATAGATTTCACTAA	0.333000													8	51					0	0	0.006214	0	0
CPZ	8532	broad.mit.edu	37	4	8616129	8616129	+	Silent	SNP	C	C	T	rs139712717	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:8616129C>T	ENST00000429646.2	+	7	3024	c.231C>T	c.(229-231)atC>atT	p.I77I	CPZ_ENST00000360986.4_Silent_p.I469I|CPZ_ENST00000315782.6_Silent_p.I458I|CPZ_ENST00000382480.2_Silent_p.I332I			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	469	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTTTGAGATCACGGTAGAGC	0.582000													5	62					0	0	0.014758	0	0
AHNAK	79026	broad.mit.edu	37	11	62289517	62289517	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62289517G>A	ENST00000378024.4	-	5	12646	c.12372C>T	c.(12370-12372)ctC>ctT	p.L4124L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4124					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCGGTGCCTTGAGGTGCAGGT	0.493000													6	141					0	0	0.001168	0	0
CX3CL1	6376	broad.mit.edu	37	16	57406489	57406489	+	Silent	SNP	G	G	A	rs150111366		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:57406489G>A	ENST00000006053.6	+	1	120	c.9G>A	c.(7-9)ccG>ccA	p.P3P	CX3CL1_ENST00000564948.1_Silent_p.P3P|CX3CL1_ENST00000563383.1_Silent_p.P3P	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	3					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCATGGCTCCGATATCTCTGT	0.657000													12	42					0	0	0.020292	0	0
NCAPD3	23310	broad.mit.edu	37	11	134029834	134029834	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:134029834C>G	ENST00000534548.2	-	29	3884	c.3820G>C	c.(3820-3822)Gat>Cat	p.D1274H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1274					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCGGCCACATCTGCATGTTTT	0.562000													5	23					0	0	0.014758	0	0
CLCN6	1185	broad.mit.edu	37	1	11888677	11888677	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:11888677G>A	ENST00000346436.6	+	12	1169	c.1117G>A	c.(1117-1119)Gtc>Atc	p.V373I	CLCN6_ENST00000376487.3_Missense_Mutation_p.V351I|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376496.3_Missense_Mutation_p.V373I|CLCN6_ENST00000312413.6_Intron	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	373					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTAAGCTCGTCAGGTATCT	0.627000													6	108					0	0	0.001168	0	0
MTMR12	54545	broad.mit.edu	37	5	32229905	32229905	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:32229905G>A	ENST00000382142.3	-	16	2393	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	MTMR12_ENST00000264934.5_Silent_p.F631F|MTMR12_ENST00000280285.5_Silent_p.F687F	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	741						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTAGGTCCACGAACTCATCTT	0.512000													18	51					0	0	0.007413	0	0
DNAH10	196385	broad.mit.edu	37	12	124305263	124305263	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:124305263G>A	ENST00000409039.3	+	23	3808	c.3783G>A	c.(3781-3783)atG>atA	p.M1261I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1261	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAAGGAAATGAGTGGGCTGA	0.468000													6	73					0	0	0.003080	0	0
PSG1	5669	broad.mit.edu	37	19	43372233	43372233	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:43372233C>G	ENST00000244296.2	-	5	1400	c.1263G>C	c.(1261-1263)tcG>tcC	p.S421S	PSG1_ENST00000595356.1_Intron|PSG1_ENST00000436291.2_Intron|PSG1_ENST00000312439.6_Intron|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTATTGCCAACGATGCTGGGA	0.488000													27	248					0	0	0.010818	0	0
C14orf2	9556	broad.mit.edu	37	14	104381411	104381411	+	Missense_Mutation	SNP	C	C	T	rs149160111	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:104381411C>T	ENST00000553430.1	-	2	175	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	C14orf2_ENST00000555030.1_Missense_Mutation_p.R39Q|C14orf2_ENST00000553449.1_Intron|C14orf2_ENST00000554713.1_Missense_Mutation_p.R39Q|C14orf2_ENST00000414262.2_Missense_Mutation_p.R56Q|C14orf2_ENST00000554880.1_Missense_Mutation_p.R39Q|C14orf2_ENST00000557040.1_Missense_Mutation_p.R39Q|C14orf2_ENST00000286953.3_Missense_Mutation_p.R39Q			P56378	68MP_HUMAN	chromosome 14 open reading frame 2	39						mitochondrion				kidney(1)	1				Epithelial(152;0.223)		ACCAGCAGCCCGGATTTTATA	0.383000													4	58					0	0	0.001168	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934671	49934671	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:49934671G>C	ENST00000221485.3	-	10	1356	c.1185C>G	c.(1183-1185)gtC>gtG	p.V395V	SLC17A7_ENST00000543531.1_Silent_p.V383V|SLC17A7_ENST00000600601.1_Silent_p.V328V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	395					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		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;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCGAGTAGCCGACCACCAACA	0.682000													10	45					0	0	0.006214	0	0
USP35	57558	broad.mit.edu	37	11	77911809	77911809	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:77911809C>T	ENST00000529308.1	+	6	1413	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F115F|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													4	34					0	0	0.001984	0	0
LAMA2	3908	broad.mit.edu	37	6	129674484	129674484	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:129674484G>C	ENST00000421865.2	+	32	4748	c.4699G>C	c.(4699-4701)Gag>Cag	p.E1567Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1567	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCATGCACGCGAGGGCTGGGA	0.537000													4	64					0	0	0.009096	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515575	140515575	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:140515575G>C	ENST00000231134.5	+	1	776	c.559G>C	c.(559-561)Gat>Cat	p.D187H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		187	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATCGCGGAGATGGCAGAAA	0.517000													8	59					0	0	0.003080	0	0
ZNF473	25888	broad.mit.edu	37	19	50549435	50549435	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:50549435C>G	ENST00000595661.1	+	6	2230	c.1735C>G	c.(1735-1737)Cag>Gag	p.Q579E	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.Q567E|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.Q579E|ZNF473_ENST00000270617.3_Missense_Mutation_p.Q579E|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	579					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ATACCTAACTCAGCACGAGAG	0.453000													7	44					0	0	0.001984	0	0
SAGE1	55511	broad.mit.edu	37	X	134993401	134993401	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:134993401C>A	ENST00000535938.1	+	17	2223	c.2056C>A	c.(2056-2058)Cag>Aag	p.Q686K	SAGE1_ENST00000537770.1_Missense_Mutation_p.Q310K|SAGE1_ENST00000370709.3_Missense_Mutation_p.Q686K|SAGE1_ENST00000324447.3_Missense_Mutation_p.Q686K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	686										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAATGGCCAACAGGCACCTGA	0.453000													6	78					8.12818e-05	8.78368e-05	0.001984	1	0
ENDOV	284131	broad.mit.edu	37	17	78409975	78409975	+	Missense_Mutation	SNP	A	A	G	rs12939348	by1000genomes	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:78409975A>G	ENST00000520284.1	+	6	593	c.175A>G	c.(175-177)Att>Gtt	p.I59V	ENDOV_ENST00000518137.1_3'UTR|ENDOV_ENST00000518907.1_Missense_Mutation_p.I59V|ENDOV_ENST00000518901.1_3'UTR|ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000517795.1_3'UTR			Q8N8Q3	ENDOV_HUMAN	endonuclease V	0					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						tcctcgtctcattcctgatcG	0.532000								Direct reversal of damage					4	31					0	0	0.001984	0	0
FLG	2312	broad.mit.edu	37	1	152285731	152285731	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:152285731G>A	ENST00000368799.1	-	3	1666	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	544	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGATGGGAACCTGAGTG	0.557000									Ichthyosis				40	301					0	0	0.006230	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	25					0	0	0.009096	0	0
SOWAHD	347454	broad.mit.edu	37	X	118893487	118893487	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:118893487C>T	ENST00000343905.3	+	1	912	c.857C>T	c.(856-858)tCg>tTg	p.S286L		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	286																	GTGGCAGCGTCGCGGACCAAG	0.642000													4	20					0	0	0.009096	0	0
PSG1	5669	broad.mit.edu	37	19	43372318	43372318	+	Missense_Mutation	SNP	A	A	G	rs1058795		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:43372318A>G	ENST00000244296.2	-	5	1315	c.1178T>C	c.(1177-1179)gTt>gCt	p.V393A	PSG1_ENST00000595356.1_Missense_Mutation_p.V393A|PSG1_ENST00000436291.2_Missense_Mutation_p.V393A|PSG1_ENST00000312439.6_Missense_Mutation_p.V393A|PSG1_ENST00000403380.3_Missense_Mutation_p.V300A|PSG1_ENST00000595124.1_Missense_Mutation_p.V300A	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AACAGAGCAAACATAGAGCCC	0.458000													28	258					0	0	0.009535	0	0
LARGE	9215	broad.mit.edu	37	22	34046621	34046621	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:34046621G>A	ENST00000354992.2	-	4	711	c.140C>T	c.(139-141)tCc>tTc	p.S47F	LARGE_ENST00000337431.2_Missense_Mutation_p.S47F|LARGE_ENST00000437602.2_Missense_Mutation_p.S47F|LARGE_ENST00000402320.1_Missense_Mutation_p.S47F|LARGE_ENST00000397394.2_Missense_Mutation_p.S47F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	47					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.S47F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGTGCCTGGGACTCCAGCGG	0.647000													3	34					0	0	0.004672	0	0
ZAK	51776	broad.mit.edu	37	2	174047626	174047626	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:174047626A>G	ENST00000338983.3	+	4	487	c.292A>G	c.(292-294)Aga>Gga	p.R98G	MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000431503.2_5'UTR|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.R98G|MLTK_ENST00000409176.2_Missense_Mutation_p.R98G|MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000375213.3_Missense_Mutation_p.R98G	NM_133646.2	NP_598407.1																					TAACAGTAACAGAAGTGAGGA	0.323000													6	33					0	0	0.001984	0	0
C18orf8	29919	broad.mit.edu	37	18	21083604	21083604	+	Silent	SNP	C	C	T	rs143953070	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:21083604C>T	ENST00000269221.3	+	1	132	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	C18orf8_ENST00000590868.1_Silent_p.L8L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	8										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGACTACTATCTGGAGCTGTG	0.726000													4	38					0	0	0.009096	0	0
VPS13D	55187	broad.mit.edu	37	1	12371682	12371682	+	Splice_Site	SNP	T	T	C	rs1137787		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:12371682T>C	ENST00000358136.3	+	28	6952	c.6822T>C	c.(6820-6822)caT>caC	p.H2274H	VPS13D_ENST00000356315.4_Splice_Site_p.H2274H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2274					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAGAATTCATGTGAGTGAGA	0.433000													14	109					0	0	0.020292	0	0
TRPV4	59341	broad.mit.edu	37	12	110230175	110230175	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:110230175G>A	ENST00000418703.2	-	11	1978	c.1884C>T	c.(1882-1884)taC>taT	p.Y628Y	TRPV4_ENST00000544971.1_Silent_p.Y521Y|TRPV4_ENST00000536838.1_Silent_p.Y594Y|TRPV4_ENST00000541794.1_Silent_p.Y581Y|TRPV4_ENST00000392719.2_Silent_p.Y581Y|TRPV4_ENST00000261740.2_Silent_p.Y628Y|TRPV4_ENST00000537083.1_Silent_p.Y568Y|TRPV4_ENST00000346520.2_Silent_p.Y568Y	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	628					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CACCTGAAGCGTAGCCGATCA	0.537000													5	27					0	0	0.014758	0	0
SNX9	51429	broad.mit.edu	37	6	158296183	158296183	+	Missense_Mutation	SNP	C	C	T	rs140767756		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:158296183C>T	ENST00000392185.3	+	4	446	c.275C>T	c.(274-276)tCg>tTg	p.S92L	RP11-52J3.2_ENST00000457427.1_RNA|RP11-52J3.2_ENST00000422776.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	92					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CAGGCCAGTTCGTCGGCTGCC	0.488000													6	56					0	0	0.001984	0	0
KDR	3791	broad.mit.edu	37	4	55948801	55948801	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:55948801G>A	ENST00000263923.4	-	28	3959	c.3664C>T	c.(3664-3666)Cag>Tag	p.Q1222*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1222					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGATACTGACTGCAAAAG	0.373000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			7	54					0	0	0.003080	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648809	57648809	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57648809G>C	ENST00000402412.1	-	24	3110	c.2720C>G	c.(2719-2721)tCt>tGt	p.S907C	R3HDM2_ENST00000347140.3_Missense_Mutation_p.S893C|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S893C|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S588C|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S927C|RP11-123K3.4_ENST00000548184.1_Intron			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	893						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGGCGCCAGACATGGCGAG	0.647000													5	70					0	0	0.001984	0	0
KCNMA1	3778	broad.mit.edu	37	10	78943241	78943241	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:78943241A>G	ENST00000286627.5	-	5	1698	c.746T>C	c.(745-747)gTa>gCa	p.V249A	KCNMA1_ENST00000404857.1_Missense_Mutation_p.V249A|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V249A|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V249A|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V249A|KCNMA1_ENST00000286628.8_Missense_Mutation_p.V249A|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V249A|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V249A	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	249					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GAAATCCACTACAGAGTTCAC	0.448000													4	33					0	0	0.009096	0	0
LRRC4	64101	broad.mit.edu	37	7	127669984	127669984	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:127669984G>C	ENST00000249363.3	-	2	967	c.710C>G	c.(709-711)tCc>tGc	p.S237C	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	237						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCCATGGAAGGAGCCAGGCCT	0.562000													9	42					0	0	0.004482	0	0
MORC4	79710	broad.mit.edu	37	X	106221416	106221416	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:106221416C>T	ENST00000355610.4	-	8	1224	c.950G>A	c.(949-951)aGa>aAa	p.R317K	MORC4_ENST00000255495.7_Missense_Mutation_p.R317K|MORC4_ENST00000535534.1_Missense_Mutation_p.R65K	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	317							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AAAGGTGATTCTCACCTGCTT	0.378000													14	83					0	0	0.016723	0	0
THAP7	80764	broad.mit.edu	37	22	21354354	21354354	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:21354354C>G	ENST00000215742.4	-	4	919	c.745G>C	c.(745-747)Gat>Cat	p.D249H	THAP7_ENST00000399133.2_Missense_Mutation_p.D249H	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	249					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCAAGGGCATCAAGGGCTGCC	0.682000													10	33					0	0	0.006214	0	0
BRIP1	83990	broad.mit.edu	37	17	59926522	59926522	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:59926522T>C	ENST00000259008.2	-	5	742	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	BRIP1_ENST00000577598.1_Missense_Mutation_p.K159E	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	159	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CGAATTCTTTTCTTCTCTACT	0.378000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					15	92					0	0	0.020292	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137304	121137304	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:121137304G>T	ENST00000273666.6	+	27	3690	c.3419G>T	c.(3418-3420)cGg>cTg	p.R1140L	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R1116L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1140	v-SNARE coiled-coil homology.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACCCGTGCACGGATTGCACTT	0.527000													3	48					0.004672	0.004891	0.004672	1	0
DARS2	55157	broad.mit.edu	37	1	173795890	173795890	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:173795890G>C	ENST00000361951.4	+	2	920	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	65					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CTTAGGCCAAGAAGTCACCTT	0.398000													7	70					0	0	0.006214	0	0
ZNF704	619279	broad.mit.edu	37	8	81577165	81577165	+	Missense_Mutation	SNP	G	G	C	rs145837256		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:81577165G>C	ENST00000327835.3	-	6	1043	c.812C>G	c.(811-813)cCa>cGa	p.P271R		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	271						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GCTTGAATCTGGGATGGGGAA	0.577000													5	100					0	0	0.014758	0	0
BORA	79866	broad.mit.edu	37	13	73317730	73317730	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr13:73317730G>C	ENST00000390667.5	+	6	541	c.444G>C	c.(442-444)gaG>gaC	p.E148D	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.E78D	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	148					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										TTCATTCTGAGAAAAGCGATG	0.343000													4	51					0	0	0.014758	0	0
C3orf58	205428	broad.mit.edu	37	3	143691456	143691456	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:143691456G>C	ENST00000315691.3	+	1	817	c.282G>C	c.(280-282)gcG>gcC	p.A94A		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	94						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTACTTCGCGCAGTACGGCG	0.692000													6	52					0	0	0.001168	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28219395	28219395	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:28219395C>T	ENST00000377294.2	-	1	607	c.364G>A	c.(364-366)Gag>Aag	p.E122K	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	122	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACCACCTCCTCCCCGCTCTCT	0.592000													4	37					0	0	0.014758	0	0
TNPO3	23534	broad.mit.edu	37	7	128641272	128641272	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:128641272G>A	ENST00000393245.1	-	6	1086	c.713C>T	c.(712-714)tCg>tTg	p.S238L	TNPO3_ENST00000482320.1_Missense_Mutation_p.S172L|TNPO3_ENST00000265388.5_Missense_Mutation_p.S238L|TNPO3_ENST00000471234.1_Missense_Mutation_p.S238L|TNPO3_ENST00000471166.1_Missense_Mutation_p.S238L	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	238					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TAGGTTAGACGAGGTCTTATC	0.478000													12	106					0	0	0.016723	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173879313	173879313	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:173879313G>A	ENST00000264111.6	+	18	1964	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E594K|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.E441K|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.E423K|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.E450K|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.E441K|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E594K|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.E374K			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	594	N-terminal Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCTCCTGCAAGAGGATGACGT	0.502000													4	30					0	0	0.014758	0	0
NEB	4703	broad.mit.edu	37	2	152484043	152484043	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:152484043C>G	ENST00000427231.2	-	69	10339	c.10137G>C	c.(10135-10137)caG>caC	p.Q3379H	NEB_ENST00000604864.1_Missense_Mutation_p.Q3379H|NEB_ENST00000172853.10_Missense_Mutation_p.Q3136H|NEB_ENST00000397345.3_Missense_Mutation_p.Q3379H|NEB_ENST00000603639.1_Missense_Mutation_p.Q3379H|NEB_ENST00000409198.1_Missense_Mutation_p.Q3136H	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3379					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACATCGCTCTGGAGGTCAT	0.473000													8	138					0	0	0.006214	0	0
ZNF692	55657	broad.mit.edu	37	1	249144438	249144438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:249144438G>A	ENST00000451251.1	-	12	1891	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	ZNF692_ENST00000366471.3_Nonsense_Mutation_p.Q466*|ZNF692_ENST00000306601.4_Nonsense_Mutation_p.Q511*|ZNF692_ENST00000427146.1_Nonsense_Mutation_p.Q466*|ZNF692_ENST00000366469.5_Nonsense_Mutation_p.Q510*	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTTGGAGCCTGAGGAGATGCA	0.612000													5	51					0	0	0.001984	0	0
PRPF8	10594	broad.mit.edu	37	17	1562039	1562039	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:1562039G>A	ENST00000572621.1	-	32	5422	c.5157C>T	c.(5155-5157)ttC>ttT	p.F1719F	PRPF8_ENST00000304992.6_Silent_p.F1719F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1719	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGCTGCCTGGGAACCAGTTTC	0.507000													6	60					0	0	0.001984	0	0
MYT1L	23040	broad.mit.edu	37	2	1812936	1812936	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:1812936C>A	ENST00000399161.2	-	22	3831	c.3084G>T	c.(3082-3084)ttG>ttT	p.L1028F	MYT1L_ENST00000428368.2_Missense_Mutation_p.L1026F|MYT1L_ENST00000407844.1_Missense_Mutation_p.L24F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1028					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCATCCTGACAAGCTGTGGA	0.542000													8	79					2.74318e-10	3.08896e-10	0.006214	1	0
ZC3H12A	80149	broad.mit.edu	37	1	37947335	37947335	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:37947335C>T	ENST00000373087.6	+	4	833	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	239					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGACGGGATCGTGGTTTCCA	0.567000													11	73					0	0	0.013537	0	0
RPL12P38	645688	broad.mit.edu	37	17	58512729	58512729	+	RNA	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:58512729C>G	ENST00000588627.1	-	0	628																											CCTCGCGGATCTTTTCTGTGG	0.517000													3	12					0	0	0.004672	0	0
WDR4	10785	broad.mit.edu	37	21	44274683	44274683	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:44274683G>C	ENST00000398208.2	-	8	839	c.780C>G	c.(778-780)ctC>ctG	p.L260L	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Silent_p.L260L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	260					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CGTCGCACAGGAGCGCCACGC	0.612000													3	25					0	0	0.009096	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355033	33355033	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:33355033G>A	ENST00000023064.4	-	4	638	c.447C>T	c.(445-447)atC>atT	p.I149I	SLC7A9_ENST00000587772.1_Silent_p.I149I|SLC7A9_ENST00000590341.1_Silent_p.I149I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	149					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATTTCACAACGATTTGAGGAG	0.597000													4	52					0	0	0.003080	0	0
STK3	6788	broad.mit.edu	37	8	99761532	99761532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:99761532G>C	ENST00000523601.1	-	6	806	c.407C>G	c.(406-408)tCa>tGa	p.S136*	STK3_ENST00000419617.2_Nonsense_Mutation_p.S108*	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	108	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AATTATGTCTGAGACAGAGCC	0.323000													11	61					0	0	0.016723	0	0
CCDC180	100499483	broad.mit.edu	37	9	100082448	100082448	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:100082448G>C	ENST00000375202.2	+	25	2604	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	CCDC180_ENST00000395220.1_Missense_Mutation_p.E517Q|CCDC180_ENST00000411667.2_Missense_Mutation_p.E415Q|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.E418Q|CCDC180_ENST00000357054.1_Missense_Mutation_p.E557Q|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		TCAGCTGACTGAGTGGCATTC	0.498000													44	157					0	0	0.014410	0	0
CTCF	10664	broad.mit.edu	37	16	67662347	67662347	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:67662347C>A	ENST00000264010.4	+	9	2037	c.1593C>A	c.(1591-1593)acC>acA	p.T531T	CTCF_ENST00000401394.1_Silent_p.T203T	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	531					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCGATAAGACCTTCCGCCAGA	0.547000													23	76					1.10513e-12	1.26032e-12	0.014323	1	0
ATRX	546	broad.mit.edu	37	X	76937566	76937566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:76937566G>C	ENST00000373344.5	-	9	3396	c.3182C>G	c.(3181-3183)tCt>tGt	p.S1061C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1023C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1061					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)	AGCATAATCAGATAATTCATC	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						21	158					0	0	0.008871	0	0
STAC3	246329	broad.mit.edu	37	12	57638099	57638099	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57638099C>T	ENST00000332782.2	-	10	1058	c.857G>A	c.(856-858)cGg>cAg	p.R286Q	STAC3_ENST00000546246.2_Splice_Site_p.R100Q|STAC3_ENST00000554578.1_Splice_Site_p.R247Q	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	286	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TTCTCTCACCCGCCACCATTC	0.552000											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	75					0	0	0.014758	0	0
ASB10	136371	broad.mit.edu	37	7	150878047	150878047	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:150878047G>A	ENST00000422024.1	-	3	1343	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	ASB10_ENST00000434669.1_Silent_p.V406V|ASB10_ENST00000275838.1_Silent_p.V361V|ASB10_ENST00000377867.3_Silent_p.V346V|ASB10_ENST00000420175.2_Silent_p.V361V	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	361					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCTGGCCAGACACGGACGG	0.692000													4	12					0	0	0.009096	0	0
AHNAK	79026	broad.mit.edu	37	11	62288917	62288917	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62288917G>A	ENST00000378024.4	-	5	13246	c.12972C>T	c.(12970-12972)ttC>ttT	p.F4324F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4324					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATGCTGAATTTGGGCA	0.517000													7	222					0	0	0.001984	0	0
TXNDC11	51061	broad.mit.edu	37	16	11773514	11773514	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:11773514C>G	ENST00000356957.3	-	13	2602	c.2495G>C	c.(2494-2496)aGa>aCa	p.R832T	TXNDC11_ENST00000283033.5_Missense_Mutation_p.R805T|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	832					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGGATCTCTCTCTCCAAGTG	0.582000													5	39					0	0	0.001168	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224859	42224859	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:42224859A>T	ENST00000221992.6	+	8	1903	c.1789A>T	c.(1789-1791)Atc>Ttc	p.I597F	CEACAM5_ENST00000398599.4_Missense_Mutation_p.I596F|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I597F	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	597	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGACACCCCCATCATTTCCCC	0.552000													27	157					0	0	0.008361	0	0
CUBN	8029	broad.mit.edu	37	10	16932503	16932503	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:16932503C>G	ENST00000377833.4	-	55	8687	c.8622G>C	c.(8620-8622)gtG>gtC	p.V2874V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2874	CUB 21.				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)	GGGCTTTGTCCACCTCCTCAG	0.498000													6	62					0	0	0.003080	0	0
C10orf2	56652	broad.mit.edu	37	10	102748960	102748960	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:102748960C>G	ENST00000370228.1	+	1	1178	c.993C>G	c.(991-993)ttC>ttG	p.F331L	C10orf2_ENST00000311916.2_Missense_Mutation_p.F331L|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	331					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AACGATGCTTCTTGGTGCGAC	0.572000													13	67					0	0	0.020292	0	0
FRMD5	84978	broad.mit.edu	37	15	44181066	44181066	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:44181066C>G	ENST00000417257.1	-	9	909	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	FRMD5_ENST00000402883.1_Missense_Mutation_p.E245Q|FRMD5_ENST00000484674.1_Missense_Mutation_p.E156Q	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	245	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTGGTCACCTCATTCCTAGAA	0.478000													7	52					0	0	0.001984	0	0
LRRC66	339977	broad.mit.edu	37	4	52861074	52861074	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:52861074G>A	ENST00000343457.3	-	4	2120	c.2114C>T	c.(2113-2115)tCt>tTt	p.S705F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	705						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCCTCATCAGAGTCACAGTC	0.527000													4	76					0	0	0.014758	0	0
FOXRED1	55572	broad.mit.edu	37	11	126147526	126147526	+	Missense_Mutation	SNP	C	C	T	rs142489681		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:126147526C>T	ENST00000263578.5	+	11	1477	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	FOXRED1_ENST00000532125.1_Missense_Mutation_p.P454L|FOXRED1_ENST00000442061.2_Missense_Mutation_p.P298L|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	468						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GACCTGAGCCCCTTCCTCTTT	0.572000													4	40					0	0	0.014758	0	0
MYH15	22989	broad.mit.edu	37	3	108133162	108133162	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:108133162G>C	ENST00000273353.3	-	31	4178	c.4122C>G	c.(4120-4122)tcC>tcG	p.S1374S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1374						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CATTGACTTTGGATAAGGTCC	0.498000													8	31					0	0	0.006214	0	0
TMEM41B	440026	broad.mit.edu	37	11	9305135	9305135	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:9305135C>T	ENST00000528080.1	-	7	1050	c.712G>A	c.(712-714)Gca>Aca	p.A238T	TMEM41B_ENST00000527813.1_Silent_p.S191S	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	238						integral to membrane		p.A238T(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GAAGGAGGTGCGACACCTGAA	0.333000													6	29					0	0	0.001984	0	0
ARID1A	8289	broad.mit.edu	37	1	27057947	27057947	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:27057947C>T	ENST00000324856.7	+	3	2026	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	ARID1A_ENST00000457599.2_Missense_Mutation_p.S552L|ARID1A_ENST00000374152.2_Missense_Mutation_p.S169L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	552					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCCCTACTCACAGCCACAG	0.652000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								31	203					0	0	0.009535	0	0
ROBO2	6092	broad.mit.edu	37	3	77645844	77645844	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:77645844T>A	ENST00000461745.1	+	19	3697	c.2797T>A	c.(2797-2799)Ttg>Atg	p.L933M	ROBO2_ENST00000332191.8_Missense_Mutation_p.L933M|ROBO2_ENST00000487694.3_Missense_Mutation_p.L949M	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	933					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.L949L(1)|p.L933L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGCCACGAGCTTGCCAGTAAA	0.428000													8	87					0	0	0.006214	0	0
SVOPL	136306	broad.mit.edu	37	7	138312990	138312990	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:138312990C>T	ENST00000421622.1	-	7	830	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	SVOPL_ENST00000419765.3_Missense_Mutation_p.G328R|SVOPL_ENST00000288513.5_Missense_Mutation_p.G176R|SVOPL_ENST00000436657.1_Missense_Mutation_p.G176R			Q8N434	SVOPL_HUMAN	SVOP-like	328						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TGGCTCTCCCCTGAGTCCCCC	0.567000													6	49					0	0	0.001168	0	0
ARID1A	8289	broad.mit.edu	37	1	27057988	27057988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:27057988C>T	ENST00000324856.7	+	3	2067	c.1696C>T	c.(1696-1698)Cag>Tag	p.Q566*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q566*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q183*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	566	Poly-Gln.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCAACCTCAGCAGCCAGC	0.637000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								32	207					0	0	0.010818	0	0
HPSE2	60495	broad.mit.edu	37	10	100242424	100242424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:100242424G>A	ENST00000370552.3	-	11	1641	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*	HPSE2_ENST00000370546.1_Nonsense_Mutation_p.Q528*|HPSE2_ENST00000404542.1_Nonsense_Mutation_p.Q416*|HPSE2_ENST00000370549.1_Nonsense_Mutation_p.Q470*	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	528					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCATAGGGCTGCAGCAGGTAC	0.522000													28	160					0	0	0.008361	0	0
PSG1	5669	broad.mit.edu	37	19	43372335	43372335	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:43372335C>A	ENST00000244296.2	-	5	1298	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N	PSG1_ENST00000595356.1_Missense_Mutation_p.K387N|PSG1_ENST00000436291.2_Missense_Mutation_p.K387N|PSG1_ENST00000312439.6_Missense_Mutation_p.K387N|PSG1_ENST00000403380.3_Missense_Mutation_p.K294N|PSG1_ENST00000595124.1_Missense_Mutation_p.K294N	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCCCGCTATGCTTTGTAGTAA	0.463000													31	254					5.8336e-16	6.68122e-16	0.015359	1	0
MED12	9968	broad.mit.edu	37	X	70346320	70346320	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:70346320G>A	ENST00000333646.6	+	19	2870	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N	MED12_ENST00000462984.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.D891N|MED12_ENST00000374080.3_Missense_Mutation_p.D891N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	891					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCCTCATCGACTTTGCCAT	0.537000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						11	136					0	0	0.003163	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123706297	123706297	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:123706297G>A	ENST00000606320.1	-	5	700	c.494C>T	c.(493-495)tCt>tTt	p.S165F	MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S13F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S135F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S13F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	13					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATGGATAACAGATTCATTTCT	0.398000													5	80					0	0	0.014758	0	0
CCZ1	51622	broad.mit.edu	37	7	5944726	5944726	+	Splice_Site	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:5944726A>G	ENST00000325974.6	+	7	590	c.524A>G	c.(523-525)tAt>tGt	p.Y175C	CCZ1_ENST00000537980.1_Splice_Site_p.Y32C	NM_015622.5	NP_056437.4	P86790	CCZ1L_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	175						lysosomal membrane				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TTCCCACAGTATTTGCAAACG	0.333000													11	92					0	0	0.008291	0	0
TEX15	56154	broad.mit.edu	37	8	30694583	30694583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:30694583G>C	ENST00000256246.2	-	3	8142	c.8068C>G	c.(8068-8070)Cct>Gct	p.P2690A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2690										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCCCAGAAGGAGATGGCTGT	0.453000													8	74					0	0	0.004482	0	0
ASCC3	10973	broad.mit.edu	37	6	101110370	101110370	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:101110370C>G	ENST00000369162.2	-	15	2673	c.2329G>C	c.(2329-2331)Gat>Cat	p.D777H		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	777	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTAAAACCATCTGGGAATAAT	0.358000													4	35					0	0	0.009096	0	0
KATNAL2	83473	broad.mit.edu	37	18	44593394	44593394	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:44593394C>T	ENST00000245121.5	+	8	707	c.513C>T	c.(511-513)gaC>gaT	p.D171D	KATNAL2_ENST00000356157.7_Silent_p.D243D|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	243						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CATTGCAGGACATTTATCTCC	0.353000													4	34					0	0	0.009096	0	0
STON2	85439	broad.mit.edu	37	14	81744238	81744238	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:81744238C>T	ENST00000555447.1	-	6	1829	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	STON2_ENST00000267540.2_Missense_Mutation_p.E473K	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	473	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTTGAACTCACGGAATGGT	0.493000													7	169					0	0	0.001984	0	0
POT1	25913	broad.mit.edu	37	7	124503417	124503417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:124503417G>A	ENST00000357628.3	-	8	1131	c.533C>T	c.(532-534)tCa>tTa	p.S178L	POT1_ENST00000393329.1_Missense_Mutation_p.S47L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	178					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TAGAAGAAATGATGCTCCGTC	0.378000													6	63					0	0	0.001984	0	0
MCTP2	55784	broad.mit.edu	37	15	95019959	95019959	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:95019959C>T	ENST00000357742.4	+	21	2505	c.2505C>T	c.(2503-2505)ccC>ccT	p.P835P	MCTP2_ENST00000449432.3_3'UTR|MCTP2_ENST00000451018.3_Silent_p.P780P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	835					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTCGAAATCCCTATTCCATCG	0.378000													8	59					0	0	0.004482	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926270	67926270	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:67926270T>C	ENST00000304363.4	-	11	1896	c.1543A>G	c.(1543-1545)Aga>Gga	p.R515G		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTGTGTTCTCTCGCCGCGTGT	0.522000													4	59					0	0	0.009096	0	0
FANCC	2176	broad.mit.edu	37	9	97897680	97897680	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:97897680C>T	ENST00000289081.3	-	8	1045	c.791G>A	c.(790-792)aGt>aAt	p.S264N	FANCC_ENST00000375305.1_Missense_Mutation_p.S264N	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	264					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ATTTCTCTCACTGGAGATTAG	0.433000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	40					0	0	0.006214	0	0
KIAA0232	9778	broad.mit.edu	37	4	6843914	6843914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:6843914C>T	ENST00000307659.5	+	4	807	c.352C>T	c.(352-354)Cga>Tga	p.R118*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R118*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	118							ATP binding	p.R118*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CCAGTGTCTTCGATCTGCTTC	0.348000													4	67					0	0	0.009096	0	0
SEC24A	10802	broad.mit.edu	37	5	134007548	134007548	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:134007548C>T	ENST00000398844.2	+	4	1077	c.789C>T	c.(787-789)taC>taT	p.Y263Y	SEC24A_ENST00000322887.4_Silent_p.Y263Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	263					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGTAGTTACGACGAGATTG	0.313000													7	46					0	0	0.008291	0	0
STAC3	246329	broad.mit.edu	37	12	57638949	57638949	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57638949C>G	ENST00000332782.2	-	7	850	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	STAC3_ENST00000546246.2_Missense_Mutation_p.E31Q|STAC3_ENST00000554578.1_Missense_Mutation_p.E178Q	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	217					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TTGCCTTCCTCTGGTCTGGCC	0.592000													12	117					0	0	0.016723	0	0
LRP1B	53353	broad.mit.edu	37	2	141215109	141215109	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:141215109G>T	ENST00000389484.3	-	61	10708	c.9737C>A	c.(9736-9738)gCa>gAa	p.A3246E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3246					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)		GAGTCTGTCTGCTCCCGATGT	0.423000										TSP Lung(27;0.18)			10	74					2.17888e-05	2.37374e-05	0.006214	1	0
AOC1	26	broad.mit.edu	37	7	150558223	150558223	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:150558223C>G	ENST00000493429.1	+	7	2766	c.2182C>G	c.(2182-2184)Cgc>Ggc	p.R728G	AOC1_ENST00000416793.2_Missense_Mutation_p.R747G|AOC1_ENST00000467291.1_Missense_Mutation_p.R728G|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.R728G					amine oxidase, copper containing 1																		CTACGTCCAGCGCTGGATCCC	0.607000													5	32					0	0	0.014758	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513772	95513772	+	RNA	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:95513772G>A	ENST00000432432.2	-	0	839					NR_040113.1																						TTTGTCAAATGATGAGAAATA	0.348000													18	369					0	0	0.010504	0	0
WDR4	10785	broad.mit.edu	37	21	44272389	44272389	+	Missense_Mutation	SNP	G	G	A	rs147294240	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:44272389G>A	ENST00000398208.2	-	10	1080	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.R341C	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	341					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CAGTTCCCACGAAGAACACCA	0.567000													4	24					0	0	0.014758	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38651247	38651247	+	RNA	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:38651247C>T	ENST00000494540.1	+	0	394					NR_003086.1																						CAAAGCACTTCTCTTTGGCCT	0.373000													10	55					0	0	0.008291	0	0
INPP5D	3635	broad.mit.edu	37	2	234098579	234098579	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:234098579C>T	ENST00000359570.5	+	24	2406	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	INPP5D_ENST00000450745.1_Silent_p.S566S|INPP5D_ENST00000455936.2_Silent_p.S566S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	814					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGACGAATCCTATGGTAAGG	0.567000													5	45					0	0	0.014758	0	0
COL5A2	1290	broad.mit.edu	37	2	189931119	189931119	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:189931119T>C	ENST00000374866.3	-	23	1834	c.1560A>G	c.(1558-1560)gaA>gaG	p.E520E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	520					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AATTTACCCTTTCTCCCACTG	0.453000													11	177					0	0	0.010729	0	0
MAP3K4	4216	broad.mit.edu	37	6	161455436	161455436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:161455436C>T	ENST00000392142.4	+	2	446	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.Q100*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.Q100*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.Q100*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	100					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AACCAAACATCAGAGGAATAA	0.448000													5	44					0	0	0.014758	0	0
CYP3A5	1577	broad.mit.edu	37	7	99264653	99264653	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:99264653G>A	ENST00000343703.5	-	6	710	c.324C>T	c.(322-324)atC>atT	p.I108I	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.I118I					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CAGCTAAAGAGATGGCACTTT	0.398000													6	45					0	0	0.001984	0	0
TMC5	79838	broad.mit.edu	37	16	19501754	19501754	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:19501754C>G	ENST00000396229.2	+	18	3360	c.2611C>G	c.(2611-2613)Ctg>Gtg	p.L871V	TMC5_ENST00000542583.2_Missense_Mutation_p.L871V|TMC5_ENST00000564959.1_Missense_Mutation_p.L554V|TMC5_ENST00000541464.1_Missense_Mutation_p.L819V|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000561503.1_Missense_Mutation_p.L512V|TMC5_ENST00000219821.5_Missense_Mutation_p.L625V	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	871						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTTCGAGGTCTGCCTCTCTT	0.478000													19	116					0	0	0.007413	0	0
HDAC3	8841	broad.mit.edu	37	5	141008783	141008783	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:141008783C>T	ENST00000305264.3	-	7	646	c.567G>A	c.(565-567)acG>acA	p.T189T		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	189	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GGAAGGACACCGTCATGACCC	0.498000													4	43					0	0	0.009096	0	0
DTX1	1840	broad.mit.edu	37	12	113515265	113515265	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:113515265C>G	ENST00000257600.3	+	2	799	c.296C>G	c.(295-297)cCg>cGg	p.P99R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	99	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TTCTACGACCCGTCGTCGGCG	0.667000													4	54					0	0	0.009096	0	0
CADPS	8618	broad.mit.edu	37	3	62484936	62484936	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:62484936T>C	ENST00000383710.4	-	18	2956	c.2607A>G	c.(2605-2607)gtA>gtG	p.V869V	CADPS_ENST00000357948.3_Silent_p.V846V|CADPS_ENST00000283269.9_Silent_p.V886V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	869	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTAACCGGCCTACATTTTCTG	0.398000													4	28					0	0	0.014758	0	0
GPR50	9248	broad.mit.edu	37	X	150345317	150345317	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:150345317G>C	ENST00000218316.3	+	1	193	c.124G>C	c.(124-126)Gac>Cac	p.D42H	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	42					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGTTGTAGACCTAATCGG	0.507000													12	140					0	0	0.010729	0	0
DLL1	28514	broad.mit.edu	37	6	170592161	170592161	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:170592161G>A	ENST00000366756.3	-	10	2414	c.2081C>T	c.(2080-2082)tCg>tTg	p.S694L		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	694					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGAACAGCCCGAGTCCGGCCT	0.468000													19	123					0	0	0.012319	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175779	140175779	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:140175779C>A	ENST00000526136.1	+	1	1230	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E	PCDHA2_ENST00000520672.2_Missense_Mutation_p.D410E|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D410E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTGGACAGCGCCCTGG	0.622000													18	147					5.03518e-11	5.71792e-11	0.007413	1	0
ZNF761	388561	broad.mit.edu	37	19	53958025	53958025	+	RNA	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:53958025G>A	ENST00000454407.1	+	0	717							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TTTGCTACCAGGATGTTGATA	0.388000													14	53					0	0	0.016723	0	0
BCOR	54880	broad.mit.edu	37	X	39930940	39930940	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:39930940C>T	ENST00000342274.4	-	5	3363	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K	BCOR_ENST00000378444.4_Missense_Mutation_p.E1001K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1001K|BCOR_ENST00000378455.4_Intron	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1001					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTAATCCTTCCATCTATGTA	0.303000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						6	45					0	0	0.004482	0	0
XRN2	22803	broad.mit.edu	37	20	21312985	21312985	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:21312985C>G	ENST00000377191.3	+	9	860	c.765C>G	c.(763-765)ttC>ttG	p.F255L	XRN2_ENST00000430571.2_Missense_Mutation_p.F179L|XRN2_ENST00000539513.1_Missense_Mutation_p.F201L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	255					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GAGAAGAATTCAAACCAAACA	0.388000													6	48					0	0	0.001168	0	0
FLG	2312	broad.mit.edu	37	1	152282624	152282624	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:152282624C>G	ENST00000368799.1	-	3	4773	c.4738G>C	c.(4738-4740)Gaa>Caa	p.E1580Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1580	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCTGATTCTCCCTGGCCC	0.597000									Ichthyosis				31	203					0	0	0.008361	0	0
SLC9A4	389015	broad.mit.edu	37	2	103130649	103130649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:103130649C>T	ENST00000295269.4	+	8	2117	c.1660C>T	c.(1660-1662)Caa>Taa	p.Q554*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	554					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGAAATGAAGCAAGCCATCGA	0.403000													11	82					0	0	0.013537	0	0
SVEP1	79987	broad.mit.edu	37	9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:113194246A>G	ENST00000401783.2	-	32	5638	c.5302T>C	c.(5302-5304)Tac>Cac	p.Y1768H	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1745H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1768	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACATATGTAGGATCCATCT	0.378000													4	59					0	0	0.009096	0	0
SLC4A4	8671	broad.mit.edu	37	4	72215710	72215710	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:72215710T>G	ENST00000340595.3	+	2	535	c.339T>G	c.(337-339)agT>agG	p.S113R	SLC4A4_ENST00000425175.1_Missense_Mutation_p.S157R|SLC4A4_ENST00000512686.1_Missense_Mutation_p.S113R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S157R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S157R	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	157						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCCTTCATAGTTTATTTGAGC	0.453000													6	82					0	0	0.001168	0	0
USF2	7392	broad.mit.edu	37	19	35769607	35769607	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:35769607G>A	ENST00000222305.3	+	8	771	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	USF2_ENST00000600341.1_3'UTR|USF2_ENST00000594064.1_Missense_Mutation_p.R243Q|USF2_ENST00000343550.5_Missense_Mutation_p.R178Q|USF2_ENST00000595068.1_Missense_Mutation_p.R245Q|USF2_ENST00000379134.3_Missense_Mutation_p.R114Q	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	245	Poly-Arg.				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCAGTGGAGCGGAGGCGGAGG	0.597000													29	162					0	0	0.012213	0	0
OPCML	4978	broad.mit.edu	37	11	132306105	132306105	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:132306105C>T	ENST00000331898.7	-	6	1390	c.812G>A	c.(811-813)aGg>aAg	p.R271K	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.R230K|OPCML_ENST00000541867.1_Missense_Mutation_p.R271K|OPCML_ENST00000524381.1_Missense_Mutation_p.R264K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	271	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.R271M(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTTTTCAATCCTCATTCCATC	0.448000													4	109					0	0	0.009096	0	0
TOPORS	10210	broad.mit.edu	37	9	32544000	32544000	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:32544000C>T	ENST00000360538.2	-	3	639	c.523G>A	c.(523-525)Gat>Aat	p.D175N	TOPORS_ENST00000379858.1_Missense_Mutation_p.D110N	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	175	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATCGTCGATCAGGGGTGACA	0.448000													11	63					0	0	0.008291	0	0
DHCR24	1718	broad.mit.edu	37	1	55331117	55331117	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:55331117C>T	ENST00000371269.3	-	6	977	c.879G>A	c.(877-879)ctG>ctA	p.L293L	DHCR24_ENST00000537443.1_Intron|DHCR24_ENST00000535035.1_Silent_p.L252L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	293					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CAATGCTATTCAGCTGAAATG	0.522000													8	58					0	0	0.006214	0	0
MTRR	4552	broad.mit.edu	37	5	7895909	7895909	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:7895909C>T	ENST00000264668.2	+	12	1731	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	MTRR_ENST00000440940.2_Silent_p.I540I	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	567					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAATCCCCATCATAATGGTGG	0.398000													52	110					0	0	0.014410	0	0
ADRA2B	151	broad.mit.edu	37	2	96781355	96781355	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:96781355G>A	ENST00000409345.3	-	1	629	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	178					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGAAAGATCCGATGCTGGAGG	0.637000													3	32					0	0	0.004672	0	0
RUNX1	861	broad.mit.edu	37	21	36421143	36421143	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:36421143C>G	ENST00000300305.3	-	1	498	c.54G>C	c.(52-54)atG>atC	p.M18I	RUNX1_ENST00000486278.2_5'UTR|RUNX1_ENST00000437180.1_Missense_Mutation_p.M18I			Q01196	RUNX1_HUMAN	runt-related transcription factor 1	0					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						ACTCACCTCTCATGAAGCACT	0.483000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								6	172					0	0	0.001984	0	0
PAPD5	64282	broad.mit.edu	37	16	50257151	50257151	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:50257151G>A	ENST00000357464.3	+	8	952	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	PAPD5_ENST00000436909.3_Missense_Mutation_p.E397K|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Missense_Mutation_p.E287K			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	318	PAP-associated.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAATTTTTTGAATTATATGG	0.343000													4	59					0	0	0.009096	0	0
OR8U1	219417	broad.mit.edu	37	11	56143646	56143646	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:56143646C>A	ENST00000302270.1	+	1	547	c.547C>A	c.(547-549)Cct>Act	p.P183T		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGATGACATGCCTCTCCTCAG	0.458000													15	241					4.7546e-09	5.30931e-09	0.004007	1	0
EFCAB6	64800	broad.mit.edu	37	22	44068181	44068181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:44068181C>G	ENST00000262726.7	-	14	1677	c.1424G>C	c.(1423-1425)aGa>aCa	p.R475T	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R323T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGATGTCTTTCTCATCTAATT	0.438000													4	34					0	0	0.009096	0	0
EEPD1	80820	broad.mit.edu	37	7	36194706	36194706	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:36194706G>T	ENST00000242108.4	+	2	1491	c.773G>T	c.(772-774)aGg>aTg	p.R258M	EEPD1_ENST00000534978.1_Missense_Mutation_p.R258M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	258					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGGGATGGGAGGCCTGTGCTG	0.647000													8	23					0.00621372	0.00647967	0.006214	1	0
TEX11	56159	broad.mit.edu	37	X	70080735	70080735	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:70080735G>A	ENST00000395889.2	-	6	496	c.341C>T	c.(340-342)tCa>tTa	p.S114L	TEX11_ENST00000344304.3_Missense_Mutation_p.S114L|TEX11_ENST00000374333.2_Missense_Mutation_p.S99L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	114							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ACTTTGTTCTGAGGCAAATGA	0.343000													3	24					0	0	0.004672	0	0
FER	2241	broad.mit.edu	37	5	108516587	108516587	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:108516587G>A	ENST00000281092.4	+	18	2572	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	FER_ENST00000438717.2_Missense_Mutation_p.E555K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	730	Protein kinase.			E -> G (in Ref. 2; BAG61714).	intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACAGCACCGGAAGCTCTTAA	0.373000													10	52					0	0	0.008291	0	0
EPHB6	2051	broad.mit.edu	37	7	142567711	142567711	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:142567711G>A	ENST00000392957.2	+	17	3386	c.2599G>A	c.(2599-2601)Gag>Aag	p.E867K	EPHB6_ENST00000442129.1_Missense_Mutation_p.E867K|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.E590K	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	867	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACATGAGTGAGCAGGAGGT	0.498000													6	33					0	0	0.001168	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104263749	104263749	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:104263749C>T	ENST00000202556.9	-	2	398	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	39					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCTGCCTTCTCCAGGTTCCTT	0.378000													17	116					0	0	0.008871	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965942	49965942	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:49965942G>T	ENST00000293350.4	+	8	1191	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.G292V|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.G180V|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.G178V	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	343							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTGGACATGGGGGCCCGGGGG	0.672000													9	40					3.86212e-05	4.19048e-05	0.008291	1	0
AADACL4	343066	broad.mit.edu	37	1	12704629	12704629	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:12704629T>G	ENST00000376221.1	+	1	64	c.64T>G	c.(64-66)Tgg>Ggg	p.W22G		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	22						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCTTTGTCTGGGCTGTCTT	0.552000													13	124					0	0	0.013537	0	0
GPR123	84435	broad.mit.edu	37	10	134912196	134912196	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:134912196C>T	ENST00000607359.1	+	13	2344	c.2344C>T	c.(2344-2346)Cac>Tac	p.H782Y	GPR123_ENST00000392607.3_Missense_Mutation_p.H62Y			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	62						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTTCTGCTTCCACGCGGCCCT	0.652000													9	61					0	0	0.004482	0	0
OR8K5	219453	broad.mit.edu	37	11	55927583	55927583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:55927583G>C	ENST00000313447.1	-	1	210	c.211C>G	c.(211-213)Ctt>Gtt	p.L71V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAATTACCAAGATCAACAAAA	0.403000													12	115					0	0	0.010729	0	0
HABP2	3026	broad.mit.edu	37	10	115337829	115337829	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:115337829T>A	ENST00000351270.3	+	6	589	c.493T>A	c.(493-495)Tgc>Agc	p.C165S	HABP2_ENST00000537906.1_Silent_p.P153P|HABP2_ENST00000541666.1_Missense_Mutation_p.C165S|HABP2_ENST00000542051.1_Missense_Mutation_p.C139S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	165	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGGGGCTACCTGCTCCCGGCA	0.557000													10	68					0	0	0.006214	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035456	242035456	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:242035456G>A	ENST00000391980.2	-	4	1161	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.A180V	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	368										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		attgtcctccgcctcgtcgtc	0.498000													5	64					0	0	0.014758	0	0
CSMD2	114784	broad.mit.edu	37	1	34164482	34164482	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:34164482C>T	ENST00000373381.4	-	24	3972	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E139K	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1226	Sushi 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAATGACCTTCATCATGAACC	0.537000													7	44					0	0	0.003080	0	0
NUAK1	9891	broad.mit.edu	37	12	106460646	106460646	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:106460646G>A	ENST00000261402.2	-	7	3299	c.1920C>T	c.(1918-1920)ctC>ctT	p.L640L		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	640							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCATGTCTGTGAGGAGGGAGA	0.627000													6	96					0	0	0.001984	0	0
C20orf26	26074	broad.mit.edu	37	20	20144789	20144789	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:20144789C>A	ENST00000245957.5	+	11	1198	c.1122C>A	c.(1120-1122)ccC>ccA	p.P374P	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.P374P|C20orf26_ENST00000451767.2_Silent_p.P374P|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	374										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTGAAGAGCCCGTCCACTTCC	0.478000													9	88					7.48243e-07	8.32071e-07	0.006214	1	0
MDC1	9656	broad.mit.edu	37	6	30673284	30673284	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:30673284G>C	ENST00000376406.3	-	10	4323	c.3676C>G	c.(3676-3678)Cag>Gag	p.Q1226E	MDC1_ENST00000376405.2_Missense_Mutation_p.Q962E|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1226	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTAGTAGCCTGAGAGGTGGGT	0.572000								Other conserved DNA damage response genes					51	205					0	0	0.014410	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164328	12164328	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:12164328C>T	ENST00000379388.2	+	9	8123	c.7791C>T	c.(7789-7791)acC>acT	p.T2597T	HIVEP1_ENST00000541134.1_Silent_p.T462T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2597					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAGCAGGACCGAGTCTCCTC	0.542000													3	41					0	0	0.004672	0	0
CARD9	64170	broad.mit.edu	37	9	139262242	139262242	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:139262242G>A	ENST00000371732.5	-	8	1281	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	CARD9_ENST00000371734.3_Silent_p.A372A	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	372					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCAGGCCCCGGGCGTGCTGTG	0.701000													5	21					0	0	0.014758	0	0
EID3	493861	broad.mit.edu	37	12	104697894	104697894	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:104697894C>T	ENST00000527879.1	+	1	378	c.182C>T	c.(181-183)tCg>tTg	p.S61L	TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000542918.1_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ATCGTGAGCTCGGCGAACAAC	0.612000													5	50					0	0	0.014758	0	0
MARC2	54996	broad.mit.edu	37	1	220955233	220955233	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:220955233G>A	ENST00000366913.3	+	7	1196	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	MARC2_ENST00000359316.2_Intron|MARC2_ENST00000472447.1_3'UTR	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	333	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CCTGTGTATCGGATGGTGTAG	0.438000													11	135					0	0	0.020292	0	0
ATP5A1	498	broad.mit.edu	37	18	43668178	43668178	+	Silent	SNP	G	G	A	rs59386231		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:43668178G>A	ENST00000593152.2	-	6	1085	c.546C>T	c.(544-546)ttC>ttT	p.F182F	ATP5A1_ENST00000282050.2_Silent_p.F232F|ATP5A1_ENST00000590665.1_Silent_p.F210F|ATP5A1_ENST00000398752.6_Silent_p.F232F	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	232					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ATCCATCATTGAAACGTTTCT	0.348000													7	85					0	0	0.004482	0	0
MICA	100507436	broad.mit.edu	37	6	31378387	31378387	+	Silent	SNP	T	T	C	rs78945208	by1000genomes	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:31378387T>C	ENST00000449934.2	+	2	192	c.138T>C	c.(136-138)ctT>ctC	p.L46L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	46					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532000													3	51					0	0	0.004672	0	0
CD9	928	broad.mit.edu	37	12	6344475	6344475	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:6344475G>A	ENST00000382518.1	+	6	865	c.429G>A	c.(427-429)ctG>ctA	p.L143L	CD9_ENST00000481267.1_3'UTR|CD9_ENST00000009180.4_Silent_p.L143L|CD9_ENST00000382515.2_Silent_p.L74L			P21926	CD9_HUMAN	CD9 molecule	143					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GGGAAACGCTGAAAGCCATCC	0.532000													4	64					0	0	0.009096	0	0
PABPC3	5042	broad.mit.edu	37	13	25670975	25670975	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr13:25670975G>T	ENST00000281589.3	+	1	676	c.639G>T	c.(637-639)aaG>aaT	p.K213N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	213	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTTTGGCAAGTTCGGGCCCG	0.428000													5	61					1.23904e-05	1.35536e-05	0.014758	1	0
ADAM30	11085	broad.mit.edu	37	1	120436733	120436733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:120436733C>A	ENST00000369400.1	-	1	2385	c.2227G>T	c.(2227-2229)Gaa>Taa	p.E743*		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	743	5 X 9 AA approximate repeats.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTTTTAGATTCTTCCTGTACA	0.358000													8	157					0.00307968	0.00324943	0.003080	1	0
MAP1A	4130	broad.mit.edu	37	15	43820200	43820200	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:43820200C>A	ENST00000382031.1	+	5	7274	c.7243C>A	c.(7243-7245)Ccc>Acc	p.P2415T	MAP1A_ENST00000300231.5_Missense_Mutation_p.P2177T|MAP1A_ENST00000399453.1_Missense_Mutation_p.P2177T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2177						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCAGCCAGCTCCCCCACAGCT	0.652000													20	146					3.83957e-06	4.23459e-06	0.016522	1	0
ISOC2	79763	broad.mit.edu	37	19	55967807	55967807	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:55967807G>C	ENST00000438389.2	-	2	881	c.47C>G	c.(46-48)tCt>tGt	p.S16C	ISOC2_ENST00000085068.3_Missense_Mutation_p.S16C|ISOC2_ENST00000425675.2_Missense_Mutation_p.S16C	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	0					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GAACAGGACAGAGGATCCTGG	0.627000													10	80					0	0	0.008291	0	0
ALG1L2	644974	broad.mit.edu	37	3	129817105	129817105	+	RNA	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:129817105A>G	ENST00000507643.1	+	0	687							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CTGATCCTGAAGGCAAGCTAA	0.527000													5	40					0	0	0.008291	0	0
EPS15	2060	broad.mit.edu	37	1	51912718	51912718	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:51912718T>C	ENST00000371733.3	-	10	807	c.711A>G	c.(709-711)aaA>aaG	p.K237K	EPS15_ENST00000371730.2_Silent_p.K237K	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	237	EF-hand 2.|EH 3.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CGTCCATATCTTTATCAGTTT	0.363000			T	MLL	ALL								7	67					0	0	0.003080	0	0
NUDT7	283927	broad.mit.edu	37	16	77759451	77759451	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:77759451C>G	ENST00000268533.5	+	2	228	c.159C>G	c.(157-159)ctC>ctG	p.L53L	NUDT7_ENST00000564085.1_Silent_p.L53L|NUDT7_ENST00000568787.1_Silent_p.L53L|NUDT7_ENST00000437314.3_Silent_p.L53L|NUDT7_ENST00000563839.1_Intron	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	53	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						AAGGAAAACTCCATTTGTTGT	0.428000													12	41					0	0	0.003163	0	0
HSD17B10	3028	broad.mit.edu	37	X	53459194	53459194	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:53459194C>T	ENST00000168216.6	-	3	385		c.e3+1		HSD17B10_ENST00000375298.4_Splice_Site|HSD17B10_ENST00000375304.5_Splice_Site|HSD17B10_ENST00000495986.1_Splice_Site	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10						branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	CAAGGCCTTACATCAAGAACT	0.502000													4	17					0	0	0.014758	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818461	192818461	+	Silent	SNP	A	A	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:192818461A>T	ENST00000392314.1	-	9	1363	c.972T>A	c.(970-972)gcT>gcA	p.A324A	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Silent_p.A324A			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	324						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTCCAATCACAGCTGCGATTA	0.433000													9	46					0	0	0.008291	0	0
SLAMF7	57823	broad.mit.edu	37	1	160721190	160721190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:160721190delC	ENST00000368043.3	+	5	862	c.825delC	c.(823-825)tgcfs	p.C275fs	SLAMF7_ENST00000458602.2_Frame_Shift_Del_p.C128fs|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Intron|SLAMF7_ENST00000441662.2_Frame_Shift_Del_p.C144fs|SLAMF7_ENST00000368042.3_Frame_Shift_Del_p.C168fs|SLAMF7_ENST00000458104.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	275					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTAACATATGCCCCCATTCTG	0.468													11	164	---	---	---	---					
OR2J1	442185	broad.mit.edu	37	6	29069250	29069252	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:29069250_29069252delCTT	ENST00000377171.3	+	1	865_867	c.531_533delCTT	c.(529-534)cacttc>cac	p.F179del						olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)											breast(1)|lung(6)	7						TAGTGGATCACTTCTTCTGTGAA	0.458													21	112	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55973780	55973781	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:55973780_55973781insA	ENST00000373965.2	-	10	1407_1408	c.1013_1014insT	c.(1012-1014)ttcfs	p.F338fs	PCDH15_ENST00000395446.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000395432.2_Frame_Shift_Ins_p.F301fs|PCDH15_ENST00000373955.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000395445.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000437009.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000395438.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000414778.1_Frame_Shift_Ins_p.F343fs|PCDH15_ENST00000395430.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000395440.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Frame_Shift_Ins_p.F316fs|PCDH15_ENST00000395442.1_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000361849.3_Frame_Shift_Ins_p.F338fs|PCDH15_ENST00000373957.3_Frame_Shift_Ins_p.F316fs|PCDH15_ENST00000320301.6_Frame_Shift_Ins_p.F338fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	338	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGCATATGGAAAAATCGTGG	0.366										HNSCC(58;0.16)			8	57	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)gaafs	p.E223fs	CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.E239fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.E223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					8	126	---	---	---	---					
RBFOX1	54715	broad.mit.edu	37	16	7645615	7645616	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:7645615_7645616insCA	ENST00000340209.4	+	5	845_846	c.548_549insCA	c.(547-552)ggcaccfs	p.GT183fs	RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Frame_Shift_Ins_p.GT178fs|RBFOX1_ENST00000355637.4_Frame_Shift_Ins_p.GT198fs|RBFOX1_ENST00000547372.1_Frame_Shift_Ins_p.GT221fs|RBFOX1_ENST00000547338.1_Frame_Shift_Ins_p.GT178fs|RBFOX1_ENST00000422070.4_Frame_Shift_Ins_p.GT221fs|RBFOX1_ENST00000552089.1_Frame_Shift_Ins_p.GT195fs|RBFOX1_ENST00000436368.2_Frame_Shift_Ins_p.GT198fs|RBFOX1_ENST00000550418.1_Frame_Shift_Ins_p.GT178fs|RBFOX1_ENST00000311745.5_Frame_Shift_Ins_p.GT198fs			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	178	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AAATTACACGGCACCGTGGTAG	0.450													8	133	---	---	---	---					
MC4R	4160	broad.mit.edu	37	18	58038747	58038748	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:58038747_58038748delCA	ENST00000299766.3	-	1	1253_1254	c.835_836delTG	c.(835-837)tgcfs	p.C279fs		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	279					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGACATGAAGCACACACAATAT	0.421													11	59	---	---	---	---					
NKAIN4	128414	broad.mit.edu	37	20	61873940	61873941	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:61873940_61873941delAG	ENST00000370316.3	-	6	656_657	c.567_568delCT	c.(565-570)ctctacfs	p.Y190fs	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Frame_Shift_Del_p.Y128fs|NKAIN4_ENST00000370313.1_Intron	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	190						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TTGACATGGTAGAGAGGAAATG	0.446													36	247	---	---	---	---