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
CYR61	3491	broad.mit.edu	37	1	86047880	86047881	+	In_Frame_Ins	INS	-	-	TGG			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:86047880_86047881insTGG	uc001dle.3	+	2	771_772	c.547_548insTGG	c.(547-549)ctg>cTGGtg	p.183_184insV	CYR61_uc021opf.1_In_Frame_Ins_p.116_117insV	NM_001554	NP_001545	O00622	CYR61_HUMAN	Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.	183					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TGGCAAGGAGCTGGGATTCGAT	0.559											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NBPF10	400818	broad.mit.edu	37	1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A	rs558823		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:144825409G>A	uc009wig.1	+	17	2323	c.2129G>A	c.(2128-2130)gGt>gAt	p.G710D	NBPF10_uc010oxo.1_Missense_Mutation_p.G637D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.G527D|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.G513D|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.G372D	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	712										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GACTCACTGGGTAGATGGTAT	0.493												
PIGR	5284	broad.mit.edu	37	1	207110686	207110686	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:207110686C>T	uc001hez.3	-	3	983	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PIGR_uc009xbz.3_Missense_Mutation_p.A267T	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	267	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAAATTTGGCCACGTTTGCC	0.592												
LIN9	286826	broad.mit.edu	37	1	226426780	226426780	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:226426780G>A	uc001hqa.2	-	11	1495	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	LIN9_uc001hqb.2_Silent_p.P360P|LIN9_uc001hqc.3_Silent_p.P327P|LIN9_uc009xel.1_Silent_p.P360P	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	379					cell cycle|DNA replication	nucleoplasm		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CAATGCTGATGGGCATGGAAT	0.343												
ADARB2	105	broad.mit.edu	37	10	1405297	1405297	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:1405297C>T	uc009xhq.3	-	2	1329	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	335	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCTGCAGTGCGGCCTGCGCG	0.746												
FGFR2	2263	broad.mit.edu	37	10	123298220	123298220	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:123298220G>T	uc021pzz.1	-	5	1281	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	FGFR2_uc021pzv.1_Missense_Mutation_p.Q212K|FGFR2_uc021pzw.1_Missense_Mutation_p.Q97K|FGFR2_uc021pzx.1_Missense_Mutation_p.Q123K|FGFR2_uc021pzy.1_Missense_Mutation_p.Q212K|FGFR2_uc010qtl.2_Missense_Mutation_p.Q212K|FGFR2_uc010qtm.2_Missense_Mutation_p.Q97K|FGFR2_uc021qaa.1_Missense_Mutation_p.Q212K|FGFR2_uc021qab.1_Missense_Mutation_p.Q123K|FGFR2_uc021qac.1_Missense_Mutation_p.Q142K|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.Q231K|FGFR2_uc010qto.2_Missense_Mutation_p.Q116K|FGFR2_uc001lfo.1_Missense_Mutation_p.Q231K|FGFR2_uc010qtp.2_Missense_Mutation_p.Q231K|FGFR2_uc010qtq.2_Missense_Mutation_p.Q231K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	212	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.Q212K(2)|p.N211I(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTCCAGTGCTGGTTTCGTACC	0.418		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome			
SLC22A9	114571	broad.mit.edu	37	11	63141216	63141216	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:63141216C>T	uc001nww.3	+	2	875	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	203					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGCTCACTACGCTTCTTGTC	0.458												
TSKU	25987	broad.mit.edu	37	11	76506917	76506917	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:76506917T>G	uc021qno.1	+	0	257	c.257T>G	c.(256-258)tTg>tGg	p.L86W	TSKU_uc001oxt.3_Missense_Mutation_p.L86W	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	86						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TACACGACGTTGGCTGGCCTG	0.632												
GPR19	2842	broad.mit.edu	37	12	12814147	12814155	+	In_Frame_Del	DEL	ATTTGGTGG	ATTTGGTGG	-	rs61733942		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12814147_12814155delATTTGGTGG	uc001rar.3	-	1	1421_1429	c.1228_1236delCCACCAAAT	c.(1228-1236)ccaccaaatdel	p.PPN410del	GPR19_uc001raq.2_In_Frame_Del_p.PPN410del|GPR19_uc021qvj.1_In_Frame_Del_p.PPN410del	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	410						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AGACAAAAGTATTTGGTGGATTTGAGTTA	0.340												
CDKN1B	1027	broad.mit.edu	37	12	12871093	12871093	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12871093A>G	uc001rat.2	+	0	792	c.320A>G	c.(319-321)cAg>cGg	p.Q107R		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	107					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGGAGAGCCAGGATGTCAGC	0.642												
ITGA7	3679	broad.mit.edu	37	12	56078847	56078847	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56078847C>T	uc001shh.3	-	24	3641	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ITGA7_uc001shg.3_Missense_Mutation_p.A1137T|ITGA7_uc010sps.2_Missense_Mutation_p.A1044T|ITGA7_uc001shf.3_3'UTR|ITGA7_uc009znw.3_Missense_Mutation_p.A384T|ITGA7_uc009znx.3_Missense_Mutation_p.A1018T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1181					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.A1141T(1)|p.A1137T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGAACCTAGGCGGTGCCTGGC	0.697												
ANKRD52	283373	broad.mit.edu	37	12	56639298	56639298	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56639298G>A	uc001skm.4	-	20	2357	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	756							protein binding	p.T756M(2)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGAATGGGCGTGCGGCCCTT	0.627												
ACADS	35	broad.mit.edu	37	12	121176680	121176680	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:121176680G>A	uc001tza.4	+	7	1109	c.991G>A	c.(991-993)Gct>Act	p.A331T	ACADS_uc010szl.1_Missense_Mutation_p.A327T	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	331						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GACCTGGCGCGCTGCCATGCT	0.637												
WDR66	144406	broad.mit.edu	37	12	122437781	122437781	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:122437781G>A	uc009zxk.3	+	19	3325	c.3166G>A	c.(3166-3168)Ggt>Agt	p.G1056S		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1056							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGGTGCTCGGTTATACCAA	0.448												
TNFSF11	8600	broad.mit.edu	37	13	43180986	43180986	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:43180986C>T	uc001uyu.2	+	4	1035	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	TNFSF11_uc001uyt.2_Missense_Mutation_p.P223S	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	296					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		GGTCTCCAACCCCTCCTTACT	0.418												
RB1	5925	broad.mit.edu	37	13	49033967	49033967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:49033967C>T	uc001vcb.3	+	19	2270	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	702	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.Q702*(4)|p.Q702K(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCATTTGGACCAAGTAAGAAA	0.398		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr14:20010235A>G	uc001vwc.3	-	4	975	c.923T>C	c.(922-924)gTt>gCt	p.V308A	POTEM_uc001vwb.3_Non-coding_Transcript|P712P_uc001vwd.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368												
HCN4	10021	broad.mit.edu	37	15	73614906	73614906	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr15:73614906C>T	uc002avp.3	-	7	4522	c.3528G>A	c.(3526-3528)ggG>ggA	p.G1176G		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1176					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGGGGCCCCCCAGAAGAGG	0.627												
ACSM5	54988	broad.mit.edu	37	16	20439127	20439127	+	Silent	SNP	G	G	A	rs12922063		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:20439127G>A	uc002dhe.3	+	6	1086	c.939G>A	c.(937-939)ccG>ccA	p.P313P		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	313					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAAATTCCCGATAACCACCC	0.473												
ITGAD	3681	broad.mit.edu	37	16	31409190	31409190	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:31409190G>A	uc010cap.1	+	4	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S	ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	129					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642												
CES1P1	51716	broad.mit.edu	37	16	55803916	55803916	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:55803916G>A	uc002eik.3	+	3	491	c.40G>A	c.(40-42)Gca>Aca	p.A14T	CES1P1_uc010cce.3_Missense_Mutation_p.A14T					Homo sapiens carboxylesterase 1 pseudogene 1 (CES1P1), non-coding RNA.																		GGTGGGTGCGGCATCAACCTA	0.562												
CETP	1071	broad.mit.edu	37	16	57007243	57007243	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:57007243G>A	uc002eki.2	+	9	808	c.751_splice	c.e9-1	p.G251_splice	CETP_uc002ekj.2_Intron	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	251					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTTCCTCCAGGGTCATTTCAT	0.597												
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; 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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)		
NF1	4763	broad.mit.edu	37	17	29586049	29586049	+	Splice_Site	SNP	G	G	A	rs149784315	by1000genomes	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:29586049G>A	uc002hgg.3	+	33	4716	c.4333_splice	c.e33-1	p.I1445_splice	NF1_uc002hgh.3_Splice_Site_p.I1424_splice|NF1_uc002hgi.1_Splice_Site_p.I457_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1445	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTATTGTGTAGATACTTCAGA	0.303			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
BZRAP1	9256	broad.mit.edu	37	17	56382781	56382781	+	Silent	SNP	C	C	A	rs149705380	byFrequency	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:56382781C>A	uc002ivx.4	-	28	6271	c.5400G>T	c.(5398-5400)gtG>gtT	p.V1800V	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Silent_p.V32V|BZRAP1_uc010dcs.3_Silent_p.V1740V|BZRAP1_uc010wnt.2_Silent_p.V1791V	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1800	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCCCAAACACAGTAATGA	0.587												
ITGB4	3691	broad.mit.edu	37	17	73729694	73729694	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:73729694C>T	uc002jpg.3	+	12	1765	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y	ITGB4_uc002jph.3_Silent_p.Y526Y|ITGB4_uc010dgo.3_Silent_p.Y526Y|ITGB4_uc002jpi.4_Silent_p.Y526Y|ITGB4_uc010dgp.1_Silent_p.Y526Y|ITGB4_uc002jpj.3_Silent_p.Y526Y|ITGB4_uc010wsh.1_Silent_p.Y81Y	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	526	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGTGTGCTACGGCGAAGGCC	0.642												
TMEM241	85019	broad.mit.edu	37	18	20889649	20889649	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr18:20889649C>T	uc002kuf.3	-	13	934	c.825G>A	c.(823-825)acG>acA	p.T275T	TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript|TMEM241_uc002kue.3_Non-coding_Transcript	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	Homo sapiens transmembrane protein 241 (TMEM241), mRNA.	275						integral to membrane		p.T275T(1)									CTTACCATCCCGTGGTTGCAC	0.398												
PEX11G	92960	broad.mit.edu	37	19	7542216	7542217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:7542216_7542217insC	uc002mgk.1	-	4	606_607	c.597_598insG	c.(595-600)ctgcccfs	p.L199fs	PEX11G_uc002mgl.1_Frame_Shift_Ins_p.L129fs	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), mRNA.	199						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						ACGCCCCGGGGCAGCCAGTGCA	0.713												
ZNF99	7652	broad.mit.edu	37	19	22940645	22940645	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:22940645A>T	uc021urt.1	-	3	2221	c.2066T>A	c.(2065-2067)tTc>tAc	p.F689Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGCTGAGAAATGGTTAAA	0.368												
KIAA0355	9710	broad.mit.edu	37	19	34819037	34819037	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:34819037A>G	uc002nvd.4	+	5	1944	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	362										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCGGCCGCCGACAATCTGAAA	0.512												
DPF1	8193	broad.mit.edu	37	19	38713080	38713080	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:38713080G>A	uc021uty.1	-	2	323	c.296C>T	c.(295-297)aCg>aTg	p.T99M	DPF1_uc002ohm.3_Missense_Mutation_p.T99M|DPF1_uc002ohl.3_Missense_Mutation_p.T99M|DPF1_uc002ohn.3_Missense_Mutation_p.T17M|DPF1_uc010xtw.1_Missense_Mutation_p.T73M	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	99					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCGGGGTACGTGTAAATCTG	0.697												
FAM126B	285172	broad.mit.edu	37	2	201857004	201857004	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:201857004C>T	uc002uws.4	-	10	1019	c.831_splice	c.e10+1	p.L277_splice	FAM126B_uc002uwu.3_Splice_Site_p.L195_splice|FAM126B_uc002uwv.3_Splice_Site_p.L277_splice	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	277						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AATAACTTACCAATAGTGGTT	0.333												
IRS1	3667	broad.mit.edu	37	2	227662172	227662172	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:227662172G>A	uc021vxn.1	-	0	1283	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	IRS1_uc002voh.4_Missense_Mutation_p.S428L	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	428	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.S428L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATACTCATCCGAGGAGATGAA	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TAF4	6874	broad.mit.edu	37	20	60581775	60581775	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr20:60581775C>T	uc002ybs.3	-	6	2014	c.2014G>A	c.(2014-2016)Gcg>Acg	p.A672T		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	672	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGAAGGCCGCGGAGTCGGGG	0.662												
KRTAP6-3	337968	broad.mit.edu	37	21	31964779	31964779	+	Silent	SNP	C	C	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr21:31964779C>A	uc002yom.3	+	0	21	c.15C>A	c.(13-15)acC>acA	p.T5T	KRTAP22-2_uc021wih.1_5'Flank	NM_181605	NP_853636			Homo sapiens keratin associated protein 6-3 (KRTAP6-3), mRNA.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						CCTCAACAACCAACACCATGT	0.522												
FLNB	2317	broad.mit.edu	37	3	58140654	58140654	+	Silent	SNP	T	T	C			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:58140654T>C	uc003djj.2	+	40	6937	c.6772_splice	c.e40+1	p.G2258_splice	FLNB_uc010hne.2_Splice_Site_p.G2289_splice|FLNB_uc003djk.2_Splice_Site_p.G2247_splice|FLNB_uc010hnf.2_Splice_Site_p.G2234_splice|FLNB_uc003djl.2_Splice_Site_p.G2078_splice|FLNB_uc003djm.2_Splice_Site_p.G2065_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2258	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.G2258fs*36(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAAGAGCCTGGTATGTATT	0.453												
SLC9C1	285335	broad.mit.edu	37	3	111887770	111887770	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:111887770C>T	uc003dyu.3	-	24	3413	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	SLC9C1_uc011bhu.2_Missense_Mutation_p.R327Q|SLC9C1_uc010hqc.3_Missense_Mutation_p.R1016Q	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1064					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.R1064Q(1)									ATAAGTTTTTCGTAACAGACA	0.323												
HLTF	6596	broad.mit.edu	37	3	148804115	148804115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:148804115C>T	uc003ewq.1	-	0	227	c.9G>A	c.(7-9)tgG>tgA	p.W3*	HLTF_uc003ewr.1_Nonsense_Mutation_p.W3*|HLTF_uc003ews.1_Nonsense_Mutation_p.W3*|HLTF_uc010hve.1_Nonsense_Mutation_p.W3*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	3					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTGAACATCCAGGACATGG	0.652												
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:178936082G>A	uc003fjk.3	+	9	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		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).|E -> Q (in cancer).|E -> V (in cancer).		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.E542K(1231)|p.E542Q(18)|p.E542V(8)|p.(542_545)E>K(4)|p.E542G(2)|p.E542A(2)|p.S541T(1)		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)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
LARP1B	55132	broad.mit.edu	37	4	129003366	129003366	+	Silent	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr4:129003366A>G	uc003iga.3	+	4	395	c.264A>G	c.(262-264)tcA>tcG	p.S88S	LARP1B_uc003ifw.1_Intron|LARP1B_uc003ifx.3_Silent_p.S88S|LARP1B_uc003ify.3_Silent_p.S88S|LARP1B_uc003ifz.1_Silent_p.S88S	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	88							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTGTAAGATCAGAGAGTCAAG	0.373												
PCDHAC2	56147	broad.mit.edu	37	5	140167909	140167909	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:140167909G>A	uc003lhb.2	+	0	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A678A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	687	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A678A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAAAGGCGTCTTCGCGGG	0.662												
HRH2	3274	broad.mit.edu	37	5	175110363	175110363	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:175110363G>A	uc003mdc.4	+	1	771	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	HRH2_uc003mdd.2_Missense_Mutation_p.V43M	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	43					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTGTCTGGCCGTGGGCTTGAA	0.587												
SEMA3C	10512	broad.mit.edu	37	7	80546078	80546078	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:80546078C>A	uc011kgw.2	-	1	153	c.74G>T	c.(73-75)tGc>tTc	p.C25F	SEMA3C_uc003uhj.3_Missense_Mutation_p.C7F|SEMA3C_uc011kgx.1_5'UTR	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	7					immune response|response to drug	membrane	receptor activity	p.P25H(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACCAACACGCAAATTGTCCG	0.353												
PDIA4	9601	broad.mit.edu	37	7	148703125	148703125	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:148703125G>A	uc003wff.2	-	7	1434	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	384					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGTCCTTGATGGCCGAGTCCT	0.592											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZDHHC2	51201	broad.mit.edu	37	8	17072848	17072848	+	Silent	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:17072848A>G	uc003wxe.3	+	10	1450	c.1053A>G	c.(1051-1053)aaA>aaG	p.K351K		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	351						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ACCCAGGAAAATGCAAAGCTG	0.403												
FBXO16	157574	broad.mit.edu	37	8	28321322	28321322	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:28321322G>T	uc003xgu.3	-	3	247	c.149C>A	c.(148-150)aCa>aAa	p.T50K	ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.T37K	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	Homo sapiens F-box protein 16 (FBXO16), mRNA.	50										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTGAGAGTCTGTCCATTTGTC	0.428												
KIAA0020	9933	broad.mit.edu	37	9	2829854	2829854	+	Missense_Mutation	SNP	C	C	T	rs62534389		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:2829854C>T	uc003zhp.1	-	7	868	c.772G>A	c.(772-774)Gca>Aca	p.A258T	KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	258	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCATTGTATGCGTACTCCACG	0.458												
FAM219A	203259	broad.mit.edu	37	9	34401054	34401054	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:34401054C>T	uc011lok.2	-	5	773	c.466G>A	c.(466-468)Gac>Aac	p.D156N	FAM219A_uc003zuj.3_Missense_Mutation_p.D139N|FAM219A_uc011lol.2_Missense_Mutation_p.D144N|FAM219A_uc003zul.3_Missense_Mutation_p.D127N|FAM219A_uc022bgc.1_Missense_Mutation_p.D155N|FAM219A_uc022bgd.1_Missense_Mutation_p.D138N|FAM219A_uc003zuk.3_Missense_Mutation_p.D128N	NM_001184940	NP_001171869	Q8IW50	CI025_HUMAN	Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA.	156																	AGGTCCTCGTCGTCGGGGATC	0.617												
FAM75C1	441452	broad.mit.edu	37	9	90537820	90537820	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:90537820G>A	uc010mqi.3	+	3	3027	c.2998G>A	c.(2998-3000)Gtc>Atc	p.V1000I	FAM75C1_uc004apq.4_Missense_Mutation_p.V983I|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GAATGAAGGCGTCCAGCTACT	0.408												
EGFL7	51162	broad.mit.edu	37	9	139564727	139564727	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:139564727C>T	uc004cid.3	+	6	1427	c.516C>T	c.(514-516)gaC>gaT	p.D172D	EGFL7_uc010nbp.3_Silent_p.D172D|EGFL7_uc004cie.3_Silent_p.D172D|EGFL7_uc004cif.3_Silent_p.D172D|EGFL7_uc004cih.3_Silent_p.D172D|MIR126_uc022bps.1_5'Flank	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	Homo sapiens EGF-like-domain, multiple 7 (EGFL7), transcript variant 2, mRNA.	172	EGF-like 2; calcium-binding (Potential).				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGTCTGCAGACGGTACACTCT	0.677												
ZNF280C	55609	broad.mit.edu	37	X	129370452	129370452	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chrX:129370452G>A	uc004evm.3	-	6	858	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	ZNF280C_uc010nrf.2_Silent_p.L219L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	219	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCTTTTGACAGCATAACTTGG	0.328