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
XIRP2	129446	broad.mit.edu	37	2	168105039	168105039	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:168105039C>T	ENST00000409195.1	+	9	7226	c.7137C>T	c.(7135-7137)ctC>ctT	p.L2379L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2157L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.L2379L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2204					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCACATCTCCTTTCCTCCT	0.458000													20	45					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713857	23713857	+	Splice_Site	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:23713857G>C	ENST00000256797.4	-	10	1247	c.1079C>G	c.(1078-1080)cCt>cGt	p.P360R	ERN2_ENST00000457008.2_Splice_Site_p.P312R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	312					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CAGTCCACGAGGCTATGGCAG	0.587000													8	94					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142688880	142688880	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr6:142688880A>G	ENST00000230173.6	+	3	754	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GPR126_ENST00000296932.8_Missense_Mutation_p.N93S|GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.N93S|GPR126_ENST00000367609.3_Missense_Mutation_p.N93S	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	93	CUB.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GAAGCTCCCAATTGCATTTAT	0.443000													14	24					0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64100086	64100086	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr5:64100086G>A	ENST00000508024.1	+	10	1012	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	CWC27_ENST00000381070.3_Missense_Mutation_p.E271K			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	271					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGAGCATGATGAATATATTGA	0.368000													6	28					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013010	247013010	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:247013010G>A	ENST00000366508.1	-	33	6539	c.6403C>T	c.(6403-6405)Cgg>Tgg	p.R2135W	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2109W|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R2100W|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2100	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGCTAGACCGAGTCCTGCTG	0.453000													42	39					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	708562	708562	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:708562C>T	ENST00000549091.1	+	23	2896	c.2804C>T	c.(2803-2805)aCg>aTg	p.T935M	WDR90_ENST00000293879.4_Missense_Mutation_p.T935M	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	935										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCCTCCTTGACGCTCAGTGAG	0.672000													10	55					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69097054	69097054	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:69097054T>C	ENST00000543976.1	-	2	1048	c.802A>G	c.(802-804)Ata>Gta	p.I268V	CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.I268V|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	268					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTCTCACTTATTACACTTTCA	0.418000													13	87					0	0	1	0	0
RP11-43F13.1	0	broad.mit.edu	37	5	1632990	1632990	+	RNA	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr5:1632990C>G	ENST00000507841.1	-	0	229																											AGCTCGGTGTCTGATATCACT	0.507000													3	22					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349683	36349683	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:36349683C>T	ENST00000360202.5	+	4	637	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	KIRREL2_ENST00000347900.6_Missense_Mutation_p.R97W|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R147W|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R147W|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	147	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTGACATGTCGGAGCCGTGG	0.617000													26	45					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48114452	48114452	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr4:48114452C>T	ENST00000264316.4	-	4	337	c.252G>A	c.(250-252)aaG>aaA	p.K84K	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	84	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGACTTGGATCTTCTCTTCAG	0.478000													4	98					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	17					0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55452087	55452087	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:55452087C>T	ENST00000371268.3	+	2	607	c.333C>T	c.(331-333)ctC>ctT	p.L111L	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	111						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TGTACTACCTCACTGTGGAGT	0.647000													9	100					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170055359	170055359	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:170055359C>T	ENST00000263816.3	-	45	8800	c.8515G>A	c.(8515-8517)Gtt>Att	p.V2839I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2839	LDL-receptor class A 19.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAAATAAACGCGAGGAATA	0.358000													8	44					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125298844	125298844	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr12:125298844C>T	ENST00000339570.5	-	4	730	c.534G>A	c.(532-534)gaG>gaA	p.E178E	SCARB1_ENST00000546215.1_Silent_p.E178E|SCARB1_ENST00000541205.1_Silent_p.E137E|SCARB1_ENST00000261693.6_Silent_p.E178E|SCARB1_ENST00000544327.1_Silent_p.E124E|SCARB1_ENST00000540495.1_Silent_p.E141E|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000376788.1_Silent_p.E78E|SCARB1_ENST00000415380.2_Silent_p.E178E	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	178					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CCCACATGATCTCACCCACAG	0.512000													9	30					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911664	101911664	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chrX:101911664C>T	ENST00000537097.1	+	6	3636	c.2823C>T	c.(2821-2823)ttC>ttT	p.F941F	GPRASP1_ENST00000444152.1_Silent_p.F941F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.F941F|GPRASP1_ENST00000415986.1_Silent_p.F941F	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	941	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTCCTGGTTCTGGTCTAGAG	0.493000													4	33					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52871148	52871148	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr6:52871148C>T	ENST00000356971.3	-	14	2198	c.1709G>A	c.(1708-1710)aGg>aAg	p.R570K	ICK_ENST00000350082.5_Missense_Mutation_p.R570K	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	570					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TAGGTGTACCCTCTGCATAGC	0.403000													6	72					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823452	97823452	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr7:97823452C>T	ENST00000297293.5	+	11	3968	c.3675C>T	c.(3673-3675)ctC>ctT	p.L1225L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1225					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCTGCACCCTCGCTTCCACGG	0.602000													4	19					0	0	1	0	0
ATP6V1D	51382	broad.mit.edu	37	14	67805367	67805367	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr14:67805367C>G	ENST00000216442.7	-	9	1265	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	ATP6V1D_ENST00000555431.1_Missense_Mutation_p.E184Q|ATP6V1D_ENST00000554236.1_3'UTR|ATP6V1D_ENST00000555474.1_Missense_Mutation_p.E140Q	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	239					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		TCGTCCTTCTCTTCAGCCAGA	0.408000													27	122					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	538871	538871	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:538871C>T	ENST00000262305.4	+	5	1524	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.S379F|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.S83F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	379					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CATGGCCAGTCTGTCATCACG	0.597000													4	25					0	0	1	0	0
PDCD2	5134	broad.mit.edu	37	6	170892625	170892625	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr6:170892625C>T	ENST00000541970.1	-	2	572	c.494G>A	c.(493-495)aGa>aAa	p.R165K	PDCD2_ENST00000443345.2_Missense_Mutation_p.R132K|PDCD2_ENST00000392090.2_Missense_Mutation_p.R132K|PDCD2_ENST00000453163.2_Missense_Mutation_p.R165K|PDCD2_ENST00000542896.1_Missense_Mutation_p.R165K|PDCD2_ENST00000537445.1_Missense_Mutation_p.R132K	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	165					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		ATGTCCCAATCTCCAGTCTAG	0.478000													10	61					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176994	193176994	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:193176994G>A	ENST00000342695.4	-	14	1872	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.S498L|ATP13A4_ENST00000295548.3_Missense_Mutation_p.S517L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	517					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGCCTGGCCTGAGGCAAAGCT	0.537000													8	52					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934970	28934970	+	Silent	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr18:28934970G>C	ENST00000257192.4	+	15	3023	c.2811G>C	c.(2809-2811)ctG>ctC	p.L937L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.L296L|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	937					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAGGTAGTCTGAGTATGCACC	0.483000													15	155					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58039271	58039271	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr18:58039271G>A	ENST00000299766.3	-	1	730	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	104					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)				TTAATAGGGTGATGACAATGG	0.418000													6	62					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086351	56086351	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:56086351C>G	ENST00000312711.1	+	1	569	c.569C>G	c.(568-570)tCa>tGa	p.S190*		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGCTTTGTTCAAATACACAT	0.338000													4	69					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	53					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420526	216420526	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:216420526C>T	ENST00000366943.2	-	13	2596	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R737Q|USH2A_ENST00000366942.3_Missense_Mutation_p.R737Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	737	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTAAAGCTTCGGAGAAATTT	0.383000										HNSCC(13;0.011)			5	81					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53276849	53276849	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:53276849G>A	ENST00000566029.1	+	13	3184	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	CHD9_ENST00000447540.1_Missense_Mutation_p.R992Q|CHD9_ENST00000564845.1_Missense_Mutation_p.R992Q|CHD9_ENST00000398510.3_Missense_Mutation_p.R992Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	992	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATTGAATGGCGATGTGTGATT	0.373000													9	102					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14580222	14580222	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:14580222C>T	ENST00000242783.6	+	16	2211	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PKN1_ENST00000342216.4_Silent_p.F688F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	682	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGAACCTCTTCGGCTGTTTCC	0.607000													8	68					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71887293	71887293	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chrX:71887293G>C	ENST00000373545.3	-	7	1087	c.649C>G	c.(649-651)Ctg>Gtg	p.L217V	PHKA1_ENST00000373542.4_Missense_Mutation_p.L217V|PHKA1_ENST00000541944.1_Missense_Mutation_p.L217V|PHKA1_ENST00000339490.3_Missense_Mutation_p.L217V|PHKA1_ENST00000373539.3_Missense_Mutation_p.L217V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	217					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACACCAAACAGATCCAGTTCA	0.403000													4	19					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46642218	46642218	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:46642218C>T	ENST00000303383.3	-	5	946	c.680G>A	c.(679-681)cGa>cAa	p.R227Q		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	227										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CAATCTTAATCGAGGTTCAAC	0.358000													4	37					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43436143	43436143	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:43436143C>T	ENST00000039989.4	+	16	2082	c.2068C>T	c.(2068-2070)Ctg>Ttg	p.L690L	TTC17_ENST00000299240.6_Silent_p.L690L|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	690							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTTCAGCCTCTGACCTTTTT	0.388000													15	99					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45479086	45479086	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr21:45479086G>A	ENST00000291574.4	+	6	956	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.G261R	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	261					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GGTCAACTTCGGGGCCGGGGG	0.522000													8	15					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89018696	89018696	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr4:89018696G>A	ENST00000237612.3	-	13	2101	c.1556C>T	c.(1555-1557)tCa>tTa	p.S519L	ABCG2_ENST00000515655.1_Missense_Mutation_p.S519L	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	519	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GGAACTGGCTGAATAAGCCAC	0.448000													9	48					0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063285	59063285	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:59063285C>G	ENST00000600118.1	-	4	954	c.529G>C	c.(529-531)Gat>Cat	p.D177H	CHMP2A_ENST00000601220.1_Missense_Mutation_p.D177H|CHMP2A_ENST00000312547.2_Missense_Mutation_p.D177H			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	177	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GACAGCTCATCTGTTAGGCTA	0.582000													4	27					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554907	40554907	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr8:40554907T>C	ENST00000297737.6	-	4	352	c.206A>G	c.(205-207)gAc>gGc	p.D69G	ZMAT4_ENST00000315769.7_Missense_Mutation_p.D69G	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	69						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATCCACCATGTCGGCATCACT	0.483000													6	33					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164711	151164711	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:151164711C>T	ENST00000282466.3	-	4	3057	c.3058G>A	c.(3058-3060)Ggg>Agg	p.G1020R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1020					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAATCCGCCCCCTTCCGCCA	0.478000													12	88					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	T	rs121913343		TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr17:7577121G>T	ENST00000420246.2	-	8	949	c.817C>A	c.(817-819)Cgt>Agt	p.R273S	TP53_ENST00000445888.2_Missense_Mutation_p.R273S|TP53_ENST00000269305.4_Missense_Mutation_p.R273S|TP53_ENST00000359597.4_Missense_Mutation_p.R273S|TP53_ENST00000455263.2_Missense_Mutation_p.R273S|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	18					0.0293803	0.0295418	1	1	0
SPATC1	375686	broad.mit.edu	37	8	145095890	145095890	+	Silent	SNP	G	G	A	rs138355309		TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr8:145095890G>A	ENST00000377470.3	+	3	1290	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	SPATC1_ENST00000447830.2_Silent_p.P396P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	396										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATCCTCCCCGGCTTCAGTCA	0.597000													5	37					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622577	31622577	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr20:31622577G>A	ENST00000349552.1	+	4	311	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	104						extracellular region	lipid binding										AGCTTCATGGGAGGGAACATG	0.587000													5	76					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12880739	12880739	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:12880739T>C	ENST00000155926.4	+	3	2270	c.851T>C	c.(850-852)cTc>cCc	p.L284P	TRIB2_ENST00000381465.2_Missense_Mutation_p.L148P	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	284	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCAAGTGCCTCATCCGAAGC	0.542000													3	16					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372974	24372974	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:24372974C>T	ENST00000005284.3	+	4	1940	c.738C>T	c.(736-738)gaC>gaT	p.D246D		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	246					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GATCCCGAGACCTGTCCCCCA	0.587000													4	51					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62636738	62636738	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:62636738C>T	ENST00000383710.4	-	5	1336	c.987G>A	c.(985-987)aaG>aaA	p.K329K	CADPS_ENST00000283269.9_Silent_p.K329K|CADPS_ENST00000357948.3_Silent_p.K329K|CADPS_ENST00000490353.2_Silent_p.K329K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	329					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)		TGGATACAAACTTGGGAAATT	0.433000													10	114					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132276809	132276809	+	RNA	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:132276809G>A	ENST00000438378.2	+	0	2129					NR_026922.1																						CCGGAAGACAGATGAATACCT	0.597000													18	58					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124103710	124103710	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:124103710G>A	ENST00000360013.3	+	11	1910	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	KALRN_ENST00000240874.3_Missense_Mutation_p.D595N|KALRN_ENST00000460856.1_Missense_Mutation_p.D595N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	595					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAATGCGGACAAGCTCCT	0.592000													4	48					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379721	45379721	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr21:45379721C>T	ENST00000398063.2	+	2	651	c.159C>T	c.(157-159)ctC>ctT	p.L53L	AGPAT3_ENST00000327505.2_Silent_p.L53L|AGPAT3_ENST00000398058.1_Silent_p.L53L|AGPAT3_ENST00000291572.8_Silent_p.L53L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Silent_p.L53L|AGPAT3_ENST00000398061.1_Silent_p.L53L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	53					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		ACTGCCGCCTCGCCTACTCAC	0.687000													8	6					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076499	57076499	+	Missense_Mutation	SNP	G	G	C	rs139978039		TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:57076499G>C	ENST00000532437.1	-	5	3997	c.3686C>G	c.(3685-3687)tCt>tGt	p.S1229C	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229C			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1229	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTAACATCAGAAGTCCAGTC	0.582000													14	144					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23885488	23885488	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr14:23885488G>A	ENST00000355349.3	-	34	4840	c.4678C>T	c.(4678-4680)Cgg>Tgg	p.R1560W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1560					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGCTGGGCCCGGAGGATCTTG	0.652000													7	73					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278026	152278026	+	Silent	SNP	T	T	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:152278026T>C	ENST00000368799.1	-	3	9371	c.9336A>G	c.(9334-9336)ggA>ggG	p.G3112G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3112	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)			ACCCCGGGTGTCCACGAATGG	0.602000									Ichthyosis				97	137					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71568773	71568773	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr14:71568773G>A	ENST00000304743.2	+	31	6102	c.5656G>A	c.(5656-5658)Gag>Aag	p.E1886K	PCNX_ENST00000238570.5_Missense_Mutation_p.E1814K|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.E1775K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1886						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTATCTCATGAGAAGAACCT	0.423000													6	59					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157177909	157177909	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:157177909G>C	ENST00000494677.1	-	5	1112	c.590C>G	c.(589-591)tCa>tGa	p.S197*	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000468233.1_Nonsense_Mutation_p.S197*|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000392833.2_Intron	NM_001167915.1	NP_001161387.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	0						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATAAATGCTTGATGAAAATAC	0.388000													3	42					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28501250	28501250	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr15:28501250G>C	ENST00000261609.7	-	18	2839	c.2731C>G	c.(2731-2733)Ctc>Gtc	p.L911V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	911					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGGCAGGAGAGCAGAGAGT	0.667000													3	29					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115607	168115607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:168115607G>T	ENST00000409728.1	+	11	2739	c.2650G>T	c.(2650-2652)Gag>Tag	p.E884*	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Nonsense_Mutation_p.E851*|XIRP2_ENST00000420519.1_Nonsense_Mutation_p.E884*|XIRP2_ENST00000409605.1_Nonsense_Mutation_p.E629*|XIRP2_ENST00000409756.2_Nonsense_Mutation_p.E851*|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAGAAAAATGAGAACATTTT	0.299000													11	14					1.11149e-13	1.20357e-13	1	1	0
PPOX	5498	broad.mit.edu	37	1	161140445	161140445	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:161140445G>A	ENST00000367999.4	+	11	1400	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	PPOX_ENST00000432542.2_Silent_p.E123E|PPOX_ENST00000544598.1_Silent_p.E86E|PPOX_ENST00000535223.1_Silent_p.E41E|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Silent_p.E378E	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	378					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGACACTGGAGGCTAGTGGCT	0.542000													10	72					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5075606	5075606	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:5075606G>T	ENST00000312251.3	-	10	1440	c.1421C>A	c.(1420-1422)tCc>tAc	p.S474Y	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.S440Y	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	474					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CTCTGCTCTGGACAGGAGCAA	0.642000													8	19					1.12685e-05	1.18514e-05	1	1	0
DMTF1	9988	broad.mit.edu	37	7	86811620	86811620	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr7:86811620C>T	ENST00000394703.5	+	12	1350	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	DMTF1_ENST00000413276.2_Missense_Mutation_p.R263W|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_3'UTR|DMTF1_ENST00000331242.7_Missense_Mutation_p.R263W|DMTF1_ENST00000432937.2_Missense_Mutation_p.R175W	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	263	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TGTCAAAGATCGGTGCCGACT	0.498000													6	26					0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43772475	43772475	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:43772475A>G	ENST00000278353.4	+	2	294	c.175A>G	c.(175-177)Act>Gct	p.T59A	HSD17B12_ENST00000395700.4_Missense_Mutation_p.T59A|HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	59					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						CACAGGTAGTACTGATGGAAT	0.313000													5	38					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777387	44777387	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:44777387C>A	ENST00000391958.2	+	5	701	c.574C>A	c.(574-576)Cag>Aag	p.Q192K	ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GAGAGAACCACAGAATTATCA	0.368000													8	50					5.18039e-06	5.47984e-06	1	1	0
ZNF665	79788	broad.mit.edu	37	19	53668146	53668146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:53668146G>A	ENST00000600412.1	-	2	1517	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.Q533*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGTATTGTCTGATGTATAGTT	0.393000													19	154					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224586674	224586674	+	Silent	SNP	C	C	T	rs143580897		TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:224586674C>T	ENST00000414423.2	-	10	1675	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	WDR26_ENST00000295024.6_Silent_p.L347L|WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000479727.1_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	494						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TTCCATCACTCAAGCACCAAA	0.408000													8	96					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48737084	48737084	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr12:48737084C>A	ENST00000544117.2	-	6	1697	c.989G>T	c.(988-990)cGa>cTa	p.R330L	ZNF641_ENST00000547026.1_Missense_Mutation_p.R316L|ZNF641_ENST00000448928.3_Missense_Mutation_p.R307L|ZNF641_ENST00000301042.3_Missense_Mutation_p.R330L			Q96N77	ZN641_HUMAN	zinc finger protein 641	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GGAGTTGCATCGGAAATTCTT	0.537000													20	71					1.2644e-06	1.36109e-06	1	1	0
TMEM71	137835	broad.mit.edu	37	8	133769485	133769485	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr8:133769485G>A	ENST00000356838.3	-	3	238	c.96C>T	c.(94-96)ttC>ttT	p.F32F	TMEM71_ENST00000377901.4_Silent_p.F32F|TMEM71_ENST00000523829.1_Silent_p.F32F|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	32						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TATACCTTGGGAAAATGCACG	0.473000													12	92					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561339	52561339	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:52561339G>A	ENST00000307076.4	-	10	1379	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	NT5DC2_ENST00000459839.1_Missense_Mutation_p.R339C|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R364C|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R268C	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	327							hydrolase activity|metal ion binding	p.R327S(1)		endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TTTTCCAAGCGGGTGATCCGG	0.602000													4	62					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640790	156640790	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:156640790C>G	ENST00000368223.3	-	4	3322	c.3190G>C	c.(3190-3192)Gag>Cag	p.E1064Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1064	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCAGGGGCTCTATCGCCTCT	0.667000													4	39					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1248689	1248689	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:1248689G>A	ENST00000348261.5	+	6	966	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V240I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V240I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	240					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTGCTTCTTCGTCTTCTTCAT	0.622000													6	51					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276118	152276118	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:152276118G>A	ENST00000368799.1	-	3	11279	c.11244C>T	c.(11242-11244)caC>caT	p.H3748H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3748	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)			GGGACGCTGAGTGCCTGGAGC	0.602000									Ichthyosis				25	309					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17752249	17752249	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:17752249G>A	ENST00000428389.2	-	22	2852	c.2853C>T	c.(2851-2853)gaC>gaT	p.D951D	UNC13A_ENST00000519716.2_Silent_p.D863D|UNC13A_ENST00000550896.1_Silent_p.D861D|UNC13A_ENST00000552293.1_Silent_p.D863D|UNC13A_ENST00000551649.1_Silent_p.D863D|UNC13A_ENST00000252773.7_Silent_p.D863D			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	863					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGCAAACTCGTCCACAATCT	0.567000													8	47					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676798	37676798	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:37676798C>G	ENST00000532828.2	-	5	1892	c.1641G>C	c.(1639-1641)gaG>gaC	p.E547D	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.E135D|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E492D	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATACTGTCTCTCTCCAGTGT	0.383000													3	89					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59557513	59557513	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr17:59557513C>G	ENST00000393853.4	+	8	1017	c.854C>G	c.(853-855)tCa>tGa	p.S285*	TBX4_ENST00000240335.1_Nonsense_Mutation_p.S285*|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	285					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCAGCTCTCAGCCACACCG	0.627000													11	74					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158650486	158650486	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:158650486C>A	ENST00000368147.4	-	5	745	c.565G>T	c.(565-567)Gac>Tac	p.D189Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CGCTCCCAGTCTTCACCTAGC	0.443000													4	88					1.23904e-05	1.29568e-05	1	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35972684	35972684	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:35972684C>T	ENST00000325722.3	-	3	429	c.195G>A	c.(193-195)ctG>ctA	p.L65L		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	65	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCAGATCTCAGGCCAACTC	0.483000													6	132					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953429	56953429	+	Missense_Mutation	SNP	G	G	A	rs142398083	byFrequency	TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:56953429G>A	ENST00000504904.3	-	7	1654	c.935C>T	c.(934-936)gCg>gTg	p.A312V	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.A312V|ZNF667_ENST00000342634.3_Missense_Mutation_p.A440V			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TAAGGCCTTCGCATTTTCAGG	0.343000													38	76					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11363598	11363598	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:11363598C>T	ENST00000294618.7	-	3	180	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	57					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGTACATCCTCAAAGTCCAGG	0.607000													4	9					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17047694	17047694	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chrX:17047694C>T	ENST00000357277.3	+	5	890	c.719C>T	c.(718-720)tCa>tTa	p.S240L	REPS2_ENST00000303843.7_Missense_Mutation_p.S239L|REPS2_ENST00000380064.4_Missense_Mutation_p.S100L	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	240					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAGGGATCCTCATCAGGGGGC	0.507000													8	28					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153658301	153658301	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:153658301C>T	ENST00000368680.3	+	9	2097	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	542	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AATTACGGCTCCCTGCTAACC	0.552000													8	58					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774277	89774277	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:89774277G>C	ENST00000448984.1	+	8	1247	c.918G>C	c.(916-918)ttG>ttC	p.L306F	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	306	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						ATGAAATTTTGAGAAGCATGT	0.378000													12	60					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20649547	20649547	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:20649547C>G	ENST00000525748.1	+	9	1690	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	473					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.Q473E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCTGCCACTCAGATTTTCTT	0.493000													11	24					0	0	1	0	0
BAG5	9529	broad.mit.edu	37	14	104026912	104026912	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr14:104026912C>T	ENST00000445922.2	-	2	836	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.R238Q|BAG5_ENST00000299204.4_Missense_Mutation_p.R197Q	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	197	BAG 3.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CAGGACCCCTCGGGCCTTGTT	0.532000													6	66					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587373	247587373	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:247587373G>C	ENST00000366497.2	+	4	1408	c.628G>C	c.(628-630)Gac>Cac	p.D210H	NLRP3_ENST00000391827.2_Missense_Mutation_p.D210H|NLRP3_ENST00000366496.2_Missense_Mutation_p.D210H|NLRP3_ENST00000336119.3_Missense_Mutation_p.D210H|NLRP3_ENST00000348069.2_Missense_Mutation_p.D210H|NLRP3_ENST00000391828.3_Missense_Mutation_p.D210H|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	210					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTTGCTGTTTGACCCCGATGA	0.582000													3	32					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43739678	43739678	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr15:43739678G>A	ENST00000263801.3	-	13	2959	c.2707C>T	c.(2707-2709)Cca>Tca	p.P903S	TP53BP1_ENST00000382044.4_Missense_Mutation_p.P908S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P908S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P908S|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	903					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AAATGAAATGGGGTTTCTGaa	0.323000								Other conserved DNA damage response genes					26	28					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090205	52090205	+	Silent	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:52090205G>C	ENST00000262259.2	+	5	979	c.621G>C	c.(619-621)ctG>ctC	p.L207L	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	207					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTTGAAGCTGAACCTAGAAG	0.443000													4	73					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81952724	81952724	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr14:81952724G>A	ENST00000336735.4	-	17	1823	c.1707C>T	c.(1705-1707)ggC>ggT	p.G569G		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	569	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CATTGTAATCGCCATCTTTAT	0.438000													31	130					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202391822	202391822	+	Missense_Mutation	SNP	A	A	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:202391822A>C	ENST00000608999.1	+	3	650	c.497A>C	c.(496-498)gAg>gCg	p.E166A	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.E166A|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.E166A|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E166A	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTGCAGAAGAGCCAGCCATG	0.458000													25	29					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70098953	70098953	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:70098953G>C	ENST00000282570.3	+	13	1692	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	481					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						ACTTACACTTGAAAAGGATCA	0.274000													4	50					0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86292877	86292877	+	Splice_Site	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr9:86292877C>T	ENST00000376395.4	-	6	1394		c.e6-1		UBQLN1_ENST00000257468.7_Splice_Site	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1						apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TACCACCAAACTGTAATAAAA	0.353000													5	22					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67401286	67401286	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:67401286A>G	ENST00000329956.6	+	8	1140	c.1121A>G	c.(1120-1122)cAt>cGt	p.H374R	LRRC36_ENST00000290940.7_Missense_Mutation_p.H106R|LRRC36_ENST00000435835.3_Missense_Mutation_p.H253R|LRRC36_ENST00000563189.1_Missense_Mutation_p.H253R|LRRC36_ENST00000541146.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	374										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ACCGCTTCACATTCCTGTGGA	0.438000													27	234					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107021	14107021	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:14107021A>G	ENST00000235372.7	+	8	3587	c.2731A>G	c.(2731-2733)Agg>Ggg	p.R911G	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R710G|PRDM2_ENST00000343137.4_Missense_Mutation_p.R710G|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R911G	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	911						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGATGGGACCAGGAGCCCAAG	0.498000													15	80					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39306538	39306538	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:39306538A>G	ENST00000221418.4	-	9	1073	c.841T>C	c.(841-843)Tat>Cat	p.Y281H		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCGCGGGAATACAGCAGGTTG	0.617000													15	17					0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75312433	75312433	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr4:75312433G>A	ENST00000395748.3	+	2	456	c.244G>A	c.(244-246)Gac>Aac	p.D82N	AREG_ENST00000502307.1_Missense_Mutation_p.D82N|AREG_ENST00000264487.2_Missense_Mutation_p.D82N	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	82					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			AGCCGACTATGACTACTCAGA	0.448000													8	42					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37703110	37703110	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr5:37703110G>A	ENST00000265107.4	+	13	1493	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	446										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTATTCAAAGAGGATGTGGC	0.408000													4	87					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33552690	33552690	+	Missense_Mutation	SNP	T	T	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr10:33552690T>G	ENST00000265371.4	-	5	1067	c.542A>C	c.(541-543)aAg>aCg	p.K181T	NRP1_ENST00000374821.5_Missense_Mutation_p.K181T|NRP1_ENST00000374822.4_Missense_Mutation_p.K181T|NRP1_ENST00000432372.2_Missense_Mutation_p.K181T|NRP1_ENST00000395995.1_Missense_Mutation_p.K181T|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374823.5_Missense_Mutation_p.K181T|NRP1_ENST00000374867.2_Missense_Mutation_p.K181T|NRP1_ENST00000374816.3_Missense_Mutation_p.K181T			O14786	NRP1_HUMAN	neuropilin 1	181	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTCTGACATCTTTGGCACAAA	0.468000													20	119					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806746	97806746	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:97806746G>A	ENST00000358642.2	+	1	730	c.730G>A	c.(730-732)Ggc>Agc	p.G244S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTCCACATGCGGCGCCCATCT	0.428000													9	37					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280468	68280468	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr10:68280468C>T	ENST00000433211.2	-	11	1612	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E480K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTGTACATTTCCATGGTGTTT	0.383000													9	95					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	10					0.000602214	0.000622628	1	1	0
MTMR3	8897	broad.mit.edu	37	22	30416238	30416238	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr22:30416238C>T	ENST00000333027.3	+	17	2918	c.2590C>T	c.(2590-2592)Cat>Tat	p.H864Y	MTMR3_ENST00000323630.5_Missense_Mutation_p.H728Y|MTMR3_ENST00000401950.2_Missense_Mutation_p.H864Y|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.H864Y|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.H864Y	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	864					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCAAGGTCATCATAGATCTTG	0.517000													4	29					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666431	12666431	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr17:12666431A>G	ENST00000425538.1	+	14	2631	c.2431A>G	c.(2431-2433)Aaa>Gaa	p.K811E	MYOCD_ENST00000343344.4_Missense_Mutation_p.K763E|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	763					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATGTCTTCAAAAAGTCCCAAA	0.483000													10	59					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134424953	134424953	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chrX:134424953C>G	ENST00000370766.3	-	6	3514	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.E174Q	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	269	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATGACAGTCTCATAGATATCC	0.378000													12	52					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159277650	159277650	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:159277650G>C	ENST00000368115.1	+	6	801	c.702G>C	c.(700-702)ttG>ttC	p.L234F	FCER1A_ENST00000368114.1_Missense_Mutation_p.L201F	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	234						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CATTTCTCTTGAAGATTAAGA	0.388000													39	44					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21492143	21492143	+	Splice_Site	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:21492143C>T	ENST00000356929.3	-	3	328	c.131G>A	c.(130-132)gGt>gAt	p.G44D		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CACAGCAATACCTGTTTTATT	0.423000													6	41					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857656	144857656	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:144857656G>T	ENST00000369359.4	-	42	6844	c.6806C>A	c.(6805-6807)tCc>tAc	p.S2269Y	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S2133Y|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S2027Y|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2218Y|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S2133Y			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2133					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGAGTAGAGGAAGCAGAGCT	0.493000			T	PDGFRB	MPD								7	165					0.00198382	0.00203954	1	1	0
ACSS1	84532	broad.mit.edu	37	20	24994187	24994187	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr20:24994187A>G	ENST00000537502.1	-	8	2846	c.1315T>C	c.(1315-1317)Ttc>Ctc	p.F439L	ACSS1_ENST00000323482.4_Missense_Mutation_p.F522L|ACSS1_ENST00000432802.2_Missense_Mutation_p.F522L|ACSS1_ENST00000542618.1_Missense_Mutation_p.F401L			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	522					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TAGGCCTTGAAGTAGGCGTCC	0.562000													3	22					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36483228	36483228	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr6:36483228C>T	ENST00000229812.7	-	7	841	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	186	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTCCTCTTCTGTCAGAGTG	0.423000													5	93					0	0	1	0	0
RTCA	8634	broad.mit.edu	37	1	100733739	100733739	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:100733739C>T	ENST00000370128.4	+	3	347	c.178C>T	c.(178-180)Cga>Tga	p.R60*	RTCA_ENST00000260563.4_Nonsense_Mutation_p.R73*|RTCA_ENST00000498617.1_3'UTR	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	60					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity										GGAAATGATTCGAGATTTGTG	0.433000													24	46					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	rs142651314	byFrequency	TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:21606468C>T	ENST00000392288.2	+	4	1116	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348000													4	82					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218758272	218758272	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:218758272C>T	ENST00000171887.4	-	8	684	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	TNS1_ENST00000419504.1_Missense_Mutation_p.G78S|TNS1_ENST00000310858.6_Missense_Mutation_p.G109S|TNS1_ENST00000430930.1_Missense_Mutation_p.G78S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	78	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCGGGCCAGCCAAATTCCAGT	0.582000													16	78					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68447082	68447082	+	Silent	SNP	C	C	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr4:68447082C>A	ENST00000265404.2	+	5	505	c.423C>A	c.(421-423)gtC>gtA	p.V141V	STAP1_ENST00000396225.1_Silent_p.V141V	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	141					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TGCATGAAGTCCTAGAGAGAG	0.433000													7	96					5.18039e-06	5.47984e-06	1	1	0
SP100	6672	broad.mit.edu	37	2	231307706	231307706	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:231307706C>T	ENST00000264052.5	+	3	517	c.162C>T	c.(160-162)ttC>ttT	p.F54F	SP100_ENST00000409824.1_Silent_p.F29F|SP100_ENST00000409112.1_Silent_p.F54F|SP100_ENST00000409897.1_Silent_p.F19F|SP100_ENST00000427101.2_Silent_p.F29F|SP100_ENST00000409341.1_Silent_p.F54F|SP100_ENST00000340126.4_Silent_p.F54F|SP100_ENST00000341950.4_Silent_p.F54F	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	54	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACATTGTATTCAAGCACTTCA	0.408000													20	67					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921214	24921214	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr15:24921214C>T	ENST00000329468.2	+	1	674	c.200C>T	c.(199-201)gCc>gTc	p.A67V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATCTTCGTCGCCCCTAAGAGG	0.716000													11	10					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659342	176659342	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:176659342G>A	ENST00000367662.3	+	5	3371	c.2207G>A	c.(2206-2208)gGa>gAa	p.G736E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G736E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	736	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATGAAGTGGGACATGTTCTG	0.493000													17	110					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855725	140855725	+	Silent	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr5:140855725G>C	ENST00000308177.3	+	1	146	c.42G>C	c.(40-42)ggG>ggC	p.G14G	PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCACCGGGAGGGTAGTGG	0.557000													12	49					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842656	7842656	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr12:7842656G>C	ENST00000329913.3	-	2	960	c.913C>G	c.(913-915)Ctc>Gtc	p.L305V		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	305			L -> P (in MCOP7; also detected in a patient with bilateral iris coloboma).		eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GAGCTGTTGAGAGAGATGGTC	0.532000													4	51					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61154185	61154185	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr18:61154185C>G	ENST00000382771.4	+	3	467	c.175C>G	c.(175-177)Cat>Gat	p.H59D	SERPINB5_ENST00000489441.1_Missense_Mutation_p.H59D	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	59					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ACAGGTTCTTCATTTTGAAAA	0.393000													11	56					0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21854824	21854824	+	Silent	SNP	C	C	T	rs144828400		TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr9:21854824C>T	ENST00000380172.4	+	6	851	c.645C>T	c.(643-645)atC>atT	p.I215I	RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Silent_p.I215I|MTAP_ENST00000460874.2_Silent_p.I232I	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	215					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	ACGCAAGTATCGCCATGGCGA	0.493000													10	34					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382503	22382503	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr15:22382503G>C	ENST00000328795.4	+	1	122	c.31G>C	c.(31-33)Gaa>Caa	p.E11Q	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGTAGTGACAGAATTTATCCT	0.348000													23	37					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125035722	125035722	+	Silent	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr8:125035722C>G	ENST00000522917.1	+	18	2378	c.2172C>G	c.(2170-2172)ctC>ctG	p.L724L	FER1L6_ENST00000399018.1_Silent_p.L724L|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	724						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTGGATGCTCAGCAACAACA	0.522000													21	85					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498000													8	456					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53326485	53326485	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:53326485G>T	ENST00000607628.1	-	7	1106	c.997C>A	c.(997-999)Ccc>Acc	p.P333T	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.P333T|DCP1A_ENST00000606822.1_Missense_Mutation_p.P295T	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	333					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGTAAGCTGGGGGGAACCTGT	0.557000													4	49					0.00909568	0.00929894	1	1	0
PSMD6	9861	broad.mit.edu	37	3	64005039	64005039	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:64005039G>A	ENST00000492933.1	-	4	641	c.589C>T	c.(589-591)Ctc>Ttc	p.L197F	PSMD6_ENST00000295901.4_Missense_Mutation_p.L144F|PSMD6_ENST00000394431.2_Missense_Mutation_p.L106F|PSMD6_ENST00000482510.1_Missense_Mutation_p.L105F	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	144	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		ATCCTAAGGAGATAGAATACA	0.413000													5	56					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76592404	76592404	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:76592404A>T	ENST00000307431.8	+	25	4133	c.3748A>T	c.(3748-3750)Att>Ttt	p.I1250F	RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.I1254F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.I1202F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.I1178F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1251					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGCTGTTGTGATTTTTATCTT	0.353000													14	23					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40651057	40651057	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr17:40651057A>G	ENST00000343619.4	+	15	1799	c.1676A>G	c.(1675-1677)cAt>cGt	p.H559R	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.H559R|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.H516R|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.H516R|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.H559R|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.H566R|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.H205R	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	559					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTGTTCAACCATATGTGAGTT	0.373000													69	109					0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100424	27100424	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr6:27100424C>T	ENST00000607124.1	-	1	105	c.106G>A	c.(106-108)Gag>Aag	p.E36K	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.E36K|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.E36K			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	36					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GAATAGCTCTCCTTGCGGCTG	0.552000													11	139					0	0	1	0	0
FANCF	2188	broad.mit.edu	37	11	22647314	22647314	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:22647314G>C	ENST00000327470.3	-	1	73	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	15					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GAGACCGCCAGAAGCTCGGAA	0.637000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	24					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6682777	6682777	+	RNA	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr8:6682777G>A	ENST00000518724.1	-	0	487							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TCCAAGAGTCGAAGGGCCGAC	0.597000													7	10					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39018301	39018301	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr19:39018301G>A	ENST00000355481.4	+	72	10817	c.10686G>A	c.(10684-10686)ccG>ccA	p.P3562P	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000359596.3_Silent_p.P3567P|RYR1_ENST00000360985.3_Silent_p.P3567P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3567					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGGCTCCCCGTCTCTGCGCT	0.642000													5	17					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407237	140407237	+	Silent	SNP	C	C	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:140407237C>G	ENST00000286349.3	+	3	1904	c.1713C>G	c.(1711-1713)ctC>ctG	p.L571L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	571						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGACGGCCTCTACACCTACT	0.577000													5	90					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651902	96651902	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr6:96651902G>A	ENST00000302103.5	+	3	1197	c.871G>A	c.(871-873)Gat>Aat	p.D291N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	291					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TCATGTGGAAGATTATAACTC	0.383000													4	55					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167728179	167728179	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:167728179C>T	ENST00000470487.1	-	16	2658	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E629K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	657	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACTTCTTGCTCTTCTCCATCA	0.383000													7	102					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571698	19571698	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr5:19571698T>A	ENST00000507958.1	-	10	2233	c.1243A>T	c.(1243-1245)Agc>Tgc	p.S415C	CDH18_ENST00000506372.1_Missense_Mutation_p.S415C|CDH18_ENST00000274170.4_Missense_Mutation_p.S415C|CDH18_ENST00000511273.1_Missense_Mutation_p.S415C|CDH18_ENST00000502796.1_Missense_Mutation_p.S415C|CDH18_ENST00000382275.1_Missense_Mutation_p.S415C			Q13634	CAD18_HUMAN	cadherin 18, type 2	415	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTACTAAGCTGTTAGTACTG	0.363000													5	78					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513618	99513618	+	Silent	SNP	T	T	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:99513618T>C	ENST00000261037.3	+	5	1253	c.873T>C	c.(871-873)gcT>gcC	p.A291A	COL8A1_ENST00000273342.4_Silent_p.A291A	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	291	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGCCAGGGGCTCCAGGAGAAC	0.662000													3	18					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96244766	96244766	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr5:96244766C>T	ENST00000437043.3	+	14	2825	c.2114C>T	c.(2113-2115)tCg>tTg	p.S705L	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.S660L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	705					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TACTTGGAATCGTTTTACCAC	0.413000													12	66					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	31144159	31144159	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr4:31144159C>T	ENST00000543491.1	+	3	3456	c.3456C>T	c.(3454-3456)ggC>ggT	p.G1152G				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGAGTATGGCCACTCAGACT	0.512000													16	111					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839059	62839059	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr20:62839059C>T	ENST00000536311.1	+	7	874	c.510C>T	c.(508-510)aaC>aaT	p.N170N	MYT1_ENST00000328439.1_Silent_p.N170N|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	170					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTCTCCTGAACTTGGGTCAAA	0.582000													5	64					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282596	152282596	+	Missense_Mutation	SNP	C	C	T	rs143520776		TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:152282596C>T	ENST00000368799.1	-	3	4801	c.4766G>A	c.(4765-4767)cGc>cAc	p.R1589H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1589	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)			GGATCCCTGGCGCCTGCTTGT	0.582000									Ichthyosis				15	167					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197002453	197002453	+	Splice_Site	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:197002453C>T	ENST00000263955.4	-	8	1123	c.837G>A	c.(835-837)gaG>gaA	p.E279E	STK17B_ENST00000409228.1_Splice_Site_p.E279E	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	279	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TTGGTCTTTTCCTTTGAAAGA	0.353000													8	34					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21721173	21721173	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr7:21721173C>T	ENST00000328843.6	+	31	5384	c.5353C>T	c.(5353-5355)Ctg>Ttg	p.L1785L	DNAH11_ENST00000409508.3_Silent_p.L1780L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1785	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTTCTCAGCTGAATACACT	0.383000									Kartagener syndrome				3	19					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140261997	140261997	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr5:140261997C>T	ENST00000289272.2	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.I48I|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCTCAGGACC	0.637000													6	69					0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109057	101109057	+	Missense_Mutation	SNP	T	T	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr4:101109057T>G	ENST00000273990.2	-	3	573	c.359A>C	c.(358-360)aAg>aCg	p.K120T	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	120					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CCTATCCAGCTTTTTACATAC	0.453000													5	40					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647498	20647498	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:20647498C>T	ENST00000272233.4	+	1	664	c.272C>T	c.(271-273)tCg>tTg	p.S91L		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	91					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		AGCCCGGACTCGCTGGAGAAC	0.627000													5	121					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726422	69726422	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:69726422G>A	ENST00000349945.1	+	14	3964	c.2412G>A	c.(2410-2412)caG>caA	p.Q804Q	NFAT5_ENST00000567239.1_Silent_p.Q897Q|NFAT5_ENST00000393742.2_Silent_p.Q804Q|NFAT5_ENST00000354436.2_Silent_p.Q880Q|NFAT5_ENST00000432919.1_Silent_p.Q898Q|NFAT5_ENST00000566899.1_Silent_p.Q804Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	880					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTAATcaacagcagcagcagc	0.478000													3	42					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74547240	74547240	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:74547240C>T	ENST00000299563.4	+	6	1605	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	531							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACCTGCTGTTCCTCAGAACTC	0.468000													6	98					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589001	140589001	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr5:140589001G>A	ENST00000239450.2	+	1	711	c.522G>A	c.(520-522)ccG>ccA	p.P174P	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		174	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATAAATCCGAACTCTCATT	0.423000													8	55					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43447023	43447023	+	Silent	SNP	C	C	T	rs147758442	byFrequency	TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr15:43447023C>T	ENST00000260403.2	+	9	1455	c.1176C>T	c.(1174-1176)atC>atT	p.I392I		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	392						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TAGAAGTAATCGTCCAGGTAA	0.363000													5	39					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130918809	130918809	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:130918809C>T	ENST00000409031.1	-	11	2166	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T	SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000339679.7_Intron|SMPD4_ENST00000452225.2_Silent_p.A53A|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000351288.6_Intron|SMPD4_ENST00000453750.1_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	301					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGTAGAGGGCGCTGGAGACA	0.597000													4	83					0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941769	111941769	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:111941769C>T	ENST00000530641.1	-	4	865	c.540G>A	c.(538-540)atG>atA	p.M180I	PIH1D2_ENST00000528775.1_Missense_Mutation_p.M180I|PIH1D2_ENST00000532211.1_Missense_Mutation_p.M180I|PIH1D2_ENST00000280350.4_Missense_Mutation_p.M180I|PIH1D2_ENST00000431456.1_Missense_Mutation_p.M180I			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	180										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TACCCCTTCTCATTTTTTCTC	0.284000													4	46					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45797213	45797213	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:45797213A>G	ENST00000450313.1	-	13	1417	c.1202T>C	c.(1201-1203)cTg>cCg	p.L401P	MUTYH_ENST00000355498.2_Missense_Mutation_p.L373P|MUTYH_ENST00000448481.1_Missense_Mutation_p.L384P|MUTYH_ENST00000372098.3_Missense_Mutation_p.L398P|MUTYH_ENST00000372115.3_Missense_Mutation_p.L387P|MUTYH_ENST00000372110.3_Missense_Mutation_p.L388P|MUTYH_ENST00000354383.6_Missense_Mutation_p.L374P|MUTYH_ENST00000528013.2_Missense_Mutation_p.L387P|MUTYH_ENST00000529984.1_Missense_Mutation_p.L68P|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.L384P|MUTYH_ENST00000372104.1_Missense_Mutation_p.L373P|MUTYH_ENST00000528332.2_Missense_Mutation_p.L82P|MUTYH_ENST00000456914.2_Missense_Mutation_p.L373P|MUTYH_ENST00000488731.2_Missense_Mutation_p.L68P	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	398	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAACTCCCACAGTCCTGCCAG	0.652000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				4	25					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13607687	13607687	+	Silent	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chrX:13607687C>T	ENST00000361306.1	+	2	344	c.87C>T	c.(85-87)caC>caT	p.H29H	EGFL6_ENST00000380602.3_Silent_p.H29H	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	29					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CAAGGCATCACGGGTTGTTAG	0.458000													3	18					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510219	77510219	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:77510219C>T	ENST00000477717.1	+	3	827	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	198					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GGTGCTGCCCCGGCTGAAGGC	0.577000													13	169					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726640	32726640	+	Silent	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr6:32726640G>A	ENST00000435145.2	-	3	694	c.633C>T	c.(631-633)atC>atT	p.I211I	HLA-DQB2_ENST00000437316.2_Silent_p.I211I|HLA-DQB2_ENST00000411527.1_Silent_p.I211I			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	211					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACTCCACGGTGATGGGGCTCT	0.567000													7	27					0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33047313	33047313	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:33047313G>A	ENST00000311388.3	+	2	531	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	DEPDC7_ENST00000241051.3_Missense_Mutation_p.R61Q	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	61	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CGTTTAAAACGACATAATGAC	0.398000													16	96					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38178747	38178747	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:38178747G>A	ENST00000407257.1	+	2	536	c.389G>A	c.(388-390)cGt>cAt	p.R130H	RMDN2_ENST00000402091.3_Missense_Mutation_p.R130H|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.R130H					regulator of microtubule dynamics 2																		TTCTCATCCCGTAAACTAAGT	0.368000													3	57					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852440	97852440	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:97852440C>T	ENST00000354565.2	+	1	899	c.899C>T	c.(898-900)tCa>tTa	p.S300L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTCACAGTTTCATTCACAAAA	0.318000													10	73					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77933200	77933200	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:77933200C>T	ENST00000361507.4	-	7	1694	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	GAB2_ENST00000340149.2_Missense_Mutation_p.D499N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	537					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGAGTTCATCGATGACGGTG	0.493000													5	38					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4829757	4829757	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr16:4829757C>T	ENST00000268231.8	-	8	1020	c.757G>A	c.(757-759)Gac>Aac	p.D253N	SEPT12_ENST00000396693.5_Missense_Mutation_p.D207N	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	253					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TGCTCTTGGTCAGCCCCTACC	0.582000													7	78					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186157078	186157078	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:186157078G>C	ENST00000271588.4	+	106	16707	c.16478G>C	c.(16477-16479)aGa>aCa	p.R5493T	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5376T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5493					response to stimulus|visual perception	basement membrane	calcium ion binding	p.R5493T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCAACATGAGAGGAAGCTAC	0.502000													14	82					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086471	56086471	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:56086471C>A	ENST00000312711.1	+	1	689	c.689C>A	c.(688-690)tCt>tAt	p.S230Y		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AGGATGAATTCTGCTGGCAGA	0.423000													6	69					0.0215528	0.0217909	1	1	0
SMC4	10051	broad.mit.edu	37	3	160143880	160143880	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr3:160143880G>A	ENST00000357388.3	+	17	2948	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	SMC4_ENST00000344722.5_Missense_Mutation_p.E833K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.E833K|SMC4_ENST00000462787.1_Missense_Mutation_p.E833K|SMC4_ENST00000469762.1_Missense_Mutation_p.E808K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	833					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAGCAAGAAGAATATTTGAA	0.299000													18	249					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937014	76937014	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chrX:76937014G>A	ENST00000373344.5	-	9	3948	c.3734C>T	c.(3733-3735)tCa>tTa	p.S1245L	ATRX_ENST00000395603.3_Missense_Mutation_p.S1207L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1245					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)	TTGCATACCTGAAGATTGGCA	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						23	76					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17531010	17531010	+	Missense_Mutation	SNP	G	G	A	rs149510892	byFrequency	TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr11:17531010G>A	ENST00000005226.7	-	18	1905	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R636C(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCCCCAGTGCGGAAGGGATGG	0.627000													6	33					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295241	120295242	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:120295241_120295242insG	ENST00000369406.3	-	8	1399_1400	c.1350_1351insC	c.(1348-1353)gcctccfs	p.S451fs	HMGCS2_ENST00000544913.2_Frame_Shift_Ins_p.S409fs	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	451					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CACTTTCGGGAGGCTAGGCGTT	0.450													13	93	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													8	98	---	---	---	---					
RPL7P12	100131085	broad.mit.edu	37	2	38458719	38458719	+	RNA	DEL	G	G	-			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr2:38458719delG	ENST00000450854.1	-	0	533																											CATGGAGGATGTAGAAGAGAA	0.403													5	1	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42231008	42231009	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr6:42231008_42231009insG	ENST00000541110.1	-	8	2501_2502	c.1933_1934insC	c.(1933-1935)cgcfs	p.R645fs	TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAGGCGTGCGGGGGGCAGCC	0.644													7	30	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149474082	149474083	+	RNA	INS	-	-	G			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr7:149474082_149474083insG	ENST00000378016.2	+	0	292_293							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGCCCAGGCTGGGGGGGCGCC	0.624													11	49	---	---	---	---					
CLEC7A	64581	broad.mit.edu	37	12	10280373	10280373	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr12:10280373delC	ENST00000353231.5	-	2	333	c.175delG	c.(175-177)gtgfs	p.V59fs	CLEC7A_ENST00000525605.1_Frame_Shift_Del_p.V59fs|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000310002.4_Frame_Shift_Del_p.V59fs|CLEC7A_ENST00000304084.8_Frame_Shift_Del_p.V59fs|CLEC7A_ENST00000298523.5_Frame_Shift_Del_p.V59fs|CLEC7A_ENST00000533022.1_Frame_Shift_Del_p.V59fs	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	59					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						ACAGCTATCACCAGTATTACC	0.463													2	4	---	---	---	---					
RP11-159L20.2	0	broad.mit.edu	37	14	31291081	31291082	+	RNA	INS	-	-	A	rs111525555		TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr14:31291081_31291082insA	ENST00000554665.1	-	0	208																											AAATTAAAAAGAAAAAAAAAAC	0.312													3	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578397	7578398	+	Frame_Shift_Ins	INS	-	-	G	rs68130327		TCGA-ZF-AA52-01A-12D-A391-08	TCGA-ZF-AA52-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a552521e-dc5b-4d7b-9e8f-998539929b7f	3678e331-be03-453a-b54c-2276f64d5f96	g.chr17:7578397_7578398insG	ENST00000420246.2	-	5	664_665	c.532_533insC	c.(532-534)cacfs	p.H178fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H178fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.H178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H178fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCTCATGGTGGGGGCAGCGC	0.644		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	59	---	---	---	---