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
ULK2	9706	broad.mit.edu	37	17	19720091	19720091	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:19720091A>C	uc002gwm.4	-	12	1576	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	ULK2_uc002gwn.3_Missense_Mutation_p.V356G	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	356					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTGTGTGGCACCAAAACAAA	0.398000													37	44					0	0	0.104719	0	0
OR13A1	79290	broad.mit.edu	37	10	45799644	45799644	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:45799644G>C	uc001jcc.1	-	3	536	c.227C>G	c.(226-228)cCt>cGt	p.P76R	OR13A1_uc001jcd.1_Missense_Mutation_p.P72R|OR13A1_uc021ppq.1_Missense_Mutation_p.P76R	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAAGTACATAGGAGCGTGGAG	0.517000													6	19					0	0	0.029380	0	0
AURKA	6790	broad.mit.edu	37	20	54956513	54956513	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr20:54956513C>A	uc002xxe.1	-	6	938	c.681G>T	c.(679-681)aaG>aaT	p.K227N	AURKA_uc002xxf.1_Missense_Mutation_p.K227N|AURKA_uc002xxg.1_Missense_Mutation_p.K227N|AURKA_uc002xxh.1_Missense_Mutation_p.K227N|AURKA_uc002xxi.1_Missense_Mutation_p.K227N|AURKA_uc002xxj.1_Missense_Mutation_p.K227N|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.K227N	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	227	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTCATCAAACTTTGAAAGTT	0.373000													15	81					9.16793e-09	1.05784e-08	0.160694	1	0
LRRC37A2	474170	broad.mit.edu	37	17	45127107	45127107	+	Missense_Mutation	SNP	C	C	G	rs147409399	by1000genomes	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:45127107C>G	uc010wkj.1	+	1	659	c.305C>G	c.(304-306)aCc>aGc	p.T102S	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1238						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCTTCGTTCACCCAAGAGCAT	0.592000													3	64					0	0	0.115264	0	0
CLDN6	9074	broad.mit.edu	37	16	3065807	3065807	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:3065807C>T	uc021tbb.1	-	0	216	c.216G>A	c.(214-216)gcG>gcA	p.A72A	CLDN6_uc002csu.4_Silent_p.A72A	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	72					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCTGTGGCAGCGCCAGCAGTG	0.642000													22	28					0	0	0.055883	0	0
C6orf222	389384	broad.mit.edu	37	6	36290199	36290199	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:36290199G>A	uc003oly.3	-	8	1670	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	498										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGGGGCTCCCGGCACTCGAGA	0.567000													11	75					0	0	0.080935	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111647887	111647887	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:111647887T>C	uc001kyp.2	-	6	692	c.572A>G	c.(571-573)gAg>gGg	p.E191G	XPNPEP1_uc009xxt.2_Missense_Mutation_p.E191G|XPNPEP1_uc001kyq.2_Missense_Mutation_p.E77G|XPNPEP1_uc010qrb.2_Missense_Mutation_p.E191G	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	148					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACGAGGTTCTCCTTGACAGG	0.522000													5	17					0	0	0.184627	0	0
GPR125	166647	broad.mit.edu	37	4	22436987	22436987	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr4:22436987C>T	uc003gqm.1	-	9	1655	c.1390G>A	c.(1390-1392)Gca>Aca	p.A464T	GPR125_uc010ieo.1_Missense_Mutation_p.A338T|GPR125_uc003gqn.1_Missense_Mutation_p.A238T|GPR125_uc003gqo.3_Missense_Mutation_p.A464T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	464					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCATTTCTGCCACAAATATA	0.393000													11	49					0	0	0.069234	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796444	11796444	+	Silent	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:11796444A>G	uc021upi.1	+	2	1060	c.384A>G	c.(382-384)ccA>ccG	p.P128P	ZNF833P_uc002msl.4_Non-coding_Transcript					Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CACTTATCCCAGTGCCTTTCA	0.353000													18	26					0	0	0.175082	0	0
C18orf1	753	broad.mit.edu	37	18	13645353	13645353	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr18:13645353G>A	uc002ksa.2	+	6	1286	c.618G>A	c.(616-618)agG>agA	p.R206R	C18orf1_uc002ksb.2_Silent_p.R188R|C18orf1_uc002kse.2_Silent_p.R169R|C18orf1_uc002ksf.2_Silent_p.R151R|C18orf1_uc002ksg.1_Silent_p.R129R|C18orf1_uc002ksh.1_Silent_p.R148R|C18orf1_uc002ksi.1_Silent_p.R130R	NM_181481	NP_852146	O15165	CR001_HUMAN	Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA.	206						integral to membrane|plasma membrane		p.R206W(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				READ - Rectum adenocarcinoma(73;0.0642)		AGTCCGTGAGGGCCCCACCCA	0.582000													8	71					0	0	0.047766	0	0
POSTN	10631	broad.mit.edu	37	13	38153417	38153417	+	Silent	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr13:38153417A>G	uc001uwo.4	-	12	1858	c.1740T>C	c.(1738-1740)ggT>ggC	p.G580G	POSTN_uc010tet.2_Silent_p.G108G|POSTN_uc001uwp.4_Silent_p.G580G|POSTN_uc001uwr.3_Silent_p.G580G|POSTN_uc001uwq.3_Silent_p.G580G|POSTN_uc010teu.1_Silent_p.G580G|POSTN_uc010tev.1_Silent_p.G580G|POSTN_uc010tew.1_Silent_p.G580G|POSTN_uc010tex.1_Silent_p.G495G	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	580	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTTAGTAACACCAGGTTCAA	0.333000													11	29					0	0	0.069234	0	0
MAST2	23139	broad.mit.edu	37	1	46474027	46474027	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:46474027A>G	uc001cov.3	+	8	1245	c.962A>G	c.(961-963)aAa>aGa	p.K321R	MAST2_uc001cow.3_Missense_Mutation_p.K321R|MAST2_uc001coy.1_Missense_Mutation_p.K29R|MAST2_uc001coz.1_Missense_Mutation_p.K206R|MAST2_uc009vya.3_Missense_Mutation_p.K243R|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	321					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CATGTTTACAAAGAAAGATTC	0.433000													8	31					0	0	0.038147	0	0
FRK	2444	broad.mit.edu	37	6	116381413	116381413	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:116381413G>A	uc003pwi.1	-	0	509	c.62C>T	c.(61-63)aCg>aTg	p.T21M		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	21					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.T21T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GTCTGCCTCCGTGGACAAACA	0.537000													9	110					0	0	0.093190	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507115	74507115	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:74507115T>C	uc001dfy.4	-	6	1692	c.1500A>G	c.(1498-1500)agA>agG	p.R500R	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	500										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACAGAGCTTTTCTCTCTCTAG	0.338000													6	136					0	0	0.021553	0	0
RXRG	6258	broad.mit.edu	37	1	165386373	165386373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165386373C>T	uc001gda.3	-	3	989	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	RXRG_uc021pea.1_Missense_Mutation_p.R53Q	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	176					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R176W(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TTTATTATCCCGACACGTGTA	0.498000													4	103					0	0	0.150653	0	0
TC2N	123036	broad.mit.edu	37	14	92268712	92268712	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:92268712G>T	uc001xzu.4	-	3	546	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	TC2N_uc001xzt.4_Missense_Mutation_p.Q119K|TC2N_uc010auc.3_Missense_Mutation_p.Q119K|TC2N_uc001xzv.4_Missense_Mutation_p.Q119K	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	119						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418000													14	62					0.000151284	0.000160184	0.105934	1	0
HMCN1	83872	broad.mit.edu	37	1	185951454	185951454	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:185951454C>T	uc001grq.1	+	17	2952	c.2723C>T	c.(2722-2724)aCt>aTt	p.T908I	HMCN1_uc001grr.1_Missense_Mutation_p.T249I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	908	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCAGCTTACTTTGCCCTGT	0.418000													36	108					0	0	0.183431	0	0
TFRC	7037	broad.mit.edu	37	3	195800987	195800987	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:195800987A>G	uc003fvz.4	-	3	531	c.248T>C	c.(247-249)aTt>aCt	p.I83T	TFRC_uc003fwa.4_Missense_Mutation_p.I83T|TFRC_uc010hzy.3_Missense_Mutation_p.I2T|TFRC_uc011btr.2_Intron	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	83					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CAAGTAGCCAATCATAAATCC	0.423000			T	BCL6	NHL								11	45					0	0	0.069234	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086744	46086744	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:46086744G>A	uc002zfu.3	-	0	101	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	20	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						AGGCTGGCTGGCAGGGGCTGG	0.667000													11	11					0	0	0.105934	0	0
PTPRS	5802	broad.mit.edu	37	19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:5218496G>A	uc002mbv.3	-	24	4217	c.3983C>T	c.(3982-3984)gCc>gTc	p.A1328V	PTPRS_uc002mbu.1_Missense_Mutation_p.A897V|PTPRS_uc010xin.2_Missense_Mutation_p.A897V|PTPRS_uc002mbw.3_Missense_Mutation_p.A1306V|PTPRS_uc002mbx.3_Missense_Mutation_p.A901V|PTPRS_uc002mby.3_Missense_Mutation_p.A897V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1328					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGAGGTCGGCATTGTTCAG	0.527000													5	251					0	0	0.021553	0	0
MALAT1	378938	broad.mit.edu	37	11	65265801	65265801	+	RNA	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:65265801C>T	uc010roh.2	+	0		c.569C>T								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		TCCGTGCGGGCCGTGGGGGGC	0.617000													13	12					0	0	0.132662	0	0
SCN7A	6332	broad.mit.edu	37	2	167298214	167298214	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:167298214T>C	uc002udu.2	-	13	1979	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	617					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGAGACCACATCAAAATCTGG	0.383000													16	36					0	0	0.146539	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24381605	24381605	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:24381605C>T	uc011mjx.2	+	0	728	c.728C>T	c.(727-729)tCg>tTg	p.S243L		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						CAGAGGTATTCGTGGCCCTCT	0.507000													5	45					0	0	0.184627	0	0
SPCS2	9789	broad.mit.edu	37	11	74680630	74680630	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:74680630T>C	uc001ovu.2	+	3	419	c.380T>C	c.(379-381)aTt>aCt	p.I127T		NM_014752	NP_055567	Q15005	SPCS2_HUMAN	Homo sapiens signal peptidase complex subunit 2 homolog (S. cerevisiae) (SPCS2), mRNA.	127					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						ATGATGGGGATTCTGACCATT	0.378000													14	41					0	0	0.105934	0	0
TPTE	7179	broad.mit.edu	37	21	10908895	10908895	+	Splice_Site	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:10908895T>C	uc002yip.1	-	23	1818	c.1450_splice	c.e23-1	p.N484_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.N466_splice|TPTE_uc002yir.1_Splice_Site_p.N446_splice|TPTE_uc010gkv.1_Splice_Site_p.N346_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	484	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAGGAAGATTCTAAAAAGAA	0.254000													3	36					0	0	0.184627	0	0
THSD7B	80731	broad.mit.edu	37	2	138320879	138320879	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:138320879T>A	uc002tva.1	+	14	3137	c.3137T>A	c.(3136-3138)cTg>cAg	p.L1046Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACAATGAGCTGAGGTCCCTG	0.443000													4	33					0	0	0.150653	0	0
POLR3A	11128	broad.mit.edu	37	10	79785906	79785906	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:79785906G>A	uc001jzn.3	-	1	259	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	42					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGTCCTGGCTGTACAGGTTCT	0.532000													3	53					0	0	0.115264	0	0
WIPI2	26100	broad.mit.edu	37	7	5270498	5270498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:5270498G>A	uc003snv.3	+	12	1501	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	WIPI2_uc003snw.3_Missense_Mutation_p.A418T|WIPI2_uc003snx.3_Missense_Mutation_p.A411T|WIPI2_uc003sny.3_Missense_Mutation_p.A400T|WIPI2_uc010ksv.3_Missense_Mutation_p.A285T|WIPI2_uc003soa.3_Missense_Mutation_p.A359T	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	429					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TGTGGGTGGCGCCTGCCTGGA	0.612000													11	33					0	0	0.069234	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137197	64137197	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:64137197C>T	uc001oae.3	+	13	1712	c.1629C>T	c.(1627-1629)ccC>ccT	p.P543P	RPS6KA4_uc001oad.3_Silent_p.P537P|RPS6KA4_uc010rnl.2_Silent_p.P480P|RPS6KA4_uc001oaf.3_Silent_p.P536P|RPS6KA4_uc009ypp.3_Intron	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	543	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACGACACGCCCGGGGCCCCGG	0.721000													3	19					0	0	0.115264	0	0
FILIP1	27145	broad.mit.edu	37	6	76124523	76124523	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:76124523T>C	uc010kbe.3	-	2	705	c.175A>G	c.(175-177)Aaa>Gaa	p.K59E	FILIP1_uc003phy.1_Missense_Mutation_p.K56E|FILIP1_uc003pia.3_Missense_Mutation_p.K56E	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	56										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGTGTCGTTTGACAGTTCCT	0.403000													104	138					0	0	0.139131	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679569	160679569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:160679569G>A	uc003qtf.3	-	0	395	c.221C>T	c.(220-222)aCg>aTg	p.T74M	SLC22A2_uc003qth.2_Missense_Mutation_p.T74M	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	74					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GCCCGGCACCGTGTAGTTCAG	0.672000													8	44					0	0	0.038147	0	0
COL3A1	1281	broad.mit.edu	37	2	189867065	189867065	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:189867065C>T	uc002uqj.1	+	34	2550	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	811	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGCTGGTTTCCCTGGTGCTC	0.438000													4	39					0	0	0.184627	0	0
SERPINB7	8710	broad.mit.edu	37	18	61465877	61465877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr18:61465877C>A	uc002ljl.3	+	5	590	c.494C>A	c.(493-495)tCa>tAa	p.S165*	SERPINB7_uc002ljm.3_Nonsense_Mutation_p.S165*|SERPINB7_uc010xet.2_Nonsense_Mutation_p.S148*|SERPINB7_uc010dqg.3_Nonsense_Mutation_p.S165*	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	165					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGCATAAGCTCATCTGCTGTA	0.353000													6	86					8.12818e-05	8.70877e-05	0.029380	1	0
ZNF292	23036	broad.mit.edu	37	6	87966561	87966561	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:87966561G>C	uc003plm.4	+	7	3255	c.3214G>C	c.(3214-3216)Gca>Cca	p.A1072P		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1072					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAAAGTATTGCATTTGTTCC	0.373000													6	76					0	0	0.029380	0	0
PHGDH	26227	broad.mit.edu	37	1	120277955	120277955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:120277955G>T	uc001ehz.3	+	6	908	c.681G>T	c.(679-681)aaG>aaT	p.K227N	PHGDH_uc009whm.3_Missense_Mutation_p.K125N|PHGDH_uc001eib.3_Missense_Mutation_p.K193N	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	227					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	AGTGCAAGAAGGGGGTGCGTG	0.642000													5	165					0.014758	0.0154444	0.184627	1	0
UBN1	29855	broad.mit.edu	37	16	4927426	4927426	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:4927426G>A	uc002cyb.3	+	16	3645	c.3306G>A	c.(3304-3306)gcG>gcA	p.A1102A	UBN1_uc010uxw.2_Intron|UBN1_uc002cyc.3_Silent_p.A1102A	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1102					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCATGCAGCGCCTCTCCCAC	0.592000													10	214					0	0	0.105934	0	0
NTNG1	22854	broad.mit.edu	37	1	107973470	107973470	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:107973470T>C	uc001dvh.4	+	5	1904	c.1186T>C	c.(1186-1188)Tgt>Cgt	p.C396R	NTNG1_uc001dvc.4_Intron|NTNG1_uc010out.2_Intron|NTNG1_uc001dvf.4_Intron|NTNG1_uc001dvi.3_Intron|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Intron|NTNG1_uc001dvg.3_Intron|NTNG1_uc009wem.3_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	396	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGGGCAGCACTGTGAGTTATG	0.443000													3	33					0	0	0.115264	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802267	24802267	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:24802267T>C	uc002dmm.3	+	5	2418	c.2304T>C	c.(2302-2304)gaT>gaC	p.D768D	TNRC6A_uc010bxs.3_Silent_p.D515D|TNRC6A_uc010vcc.1_Silent_p.D515D|TNRC6A_uc002dmn.3_Silent_p.D515D|TNRC6A_uc002dmo.3_Silent_p.D515D	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	768	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CATGTATAGATAAGACTAGCC	0.498000													10	34					0	0	0.093190	0	0
A1BG	1	broad.mit.edu	37	19	58863737	58863737	+	Silent	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:58863737A>G	uc002qsd.4	-	3	587	c.525T>C	c.(523-525)caT>caC	p.H175H	A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_Non-coding_Transcript	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	175	Ig-like V-type 2.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TGCCAGGCTGATGGACTGGAA	0.622000													3	95					0	0	0.150653	0	0
TMEM150B	284417	broad.mit.edu	37	19	55828207	55828207	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:55828207A>G	uc010esw.1	-	6	625	c.452T>C	c.(451-453)aTt>aCt	p.I151T	TMEM150B_uc010yfu.1_Missense_Mutation_p.I151T|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	151						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GAGGGGCCCAATCCAGGCAGC	0.627000													2	2					0	0	0.115264	0	0
NLRP14	338323	broad.mit.edu	37	11	7061017	7061017	+	Splice_Site	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:7061017G>A	uc001mfb.1	+	3	684	c.361_splice	c.e3+1	p.G121_splice		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	121					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGTGCTGGGTGAGTAGTTA	0.468000													5	114					0	0	0.184627	0	0
TMEM63B	55362	broad.mit.edu	37	6	44116117	44116117	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:44116117C>T	uc003owr.3	+	12	1180	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	TMEM63B_uc003owq.1_Silent_p.T372T|TMEM63B_uc003ows.3_Silent_p.T275T|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	372						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGACTATCACCGCCATGTGAG	0.592000													6	83					0	0	0.029380	0	0
RAB38	23682	broad.mit.edu	37	11	87883114	87883114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:87883114C>A	uc001pcj.2	-	1	295	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	71					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTTCCAAATCTTTCTTGACC	0.383000													19	275					5.35267e-07	6.02175e-07	0.189662	1	0
ANKRD11	29123	broad.mit.edu	37	16	89348536	89348536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:89348536C>T	uc002fmx.1	-	8	4875	c.4414G>A	c.(4414-4416)Gag>Aag	p.E1472K	ANKRD11_uc002fmy.1_Missense_Mutation_p.E1472K|ANKRD11_uc002fnc.1_Missense_Mutation_p.E1472K|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.E1429K	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1472	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctccttctcgtctctccat	0.532000													10	31					0	0	0.058154	0	0
OR5L1	219437	broad.mit.edu	37	11	55579456	55579456	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:55579456A>G	uc001nhw.1	+	0	514	c.514A>G	c.(514-516)Aat>Gat	p.N172D		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTATAGATCTAATGTGATTAA	0.458000													5	219					0	0	0.021553	0	0
ALX1	8092	broad.mit.edu	37	12	85677644	85677644	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:85677644C>T	uc001tae.4	+	1	525	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	174					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTCACTGAGGCCAGGGTCCAG	0.443000													18	82					0	0	0.160694	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869695	22869695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr22:22869695G>A	uc002zwe.3	-	1	513	c.260C>T	c.(259-261)tCg>tTg	p.S87L	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.S87L	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGCAGGCTGCGACACGTGAGC	0.468000													21	90					0	0	0.076483	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508692	37508692	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:37508692C>A	uc021ppc.1	+	33	3983	c.3884C>A	c.(3883-3885)aCa>aAa	p.T1295K	ANKRD30A_uc001iza.1_Missense_Mutation_p.T1295K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1351						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAAGATAACAATTGATATT	0.294000													9	24					2.17888e-05	2.42097e-05	0.058154	1	0
DNAH9	1770	broad.mit.edu	37	17	11827172	11827172	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:11827172A>G	uc002gne.3	+	61	11859	c.11791A>G	c.(11791-11793)Aac>Gac	p.N3931D	DNAH9_uc010coo.3_Missense_Mutation_p.N3225D|DNAH9_uc002gnf.3_Missense_Mutation_p.N243D|DNAH9_uc010vvh.1_Missense_Mutation_p.N284D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3931	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACTTTCACAACGTGTCTTT	0.458000													11	53					0	0	0.069234	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:39183145A>G	uc002hvu.3	-	0	310	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	Homo sapiens keratin associated protein 1-5 (KRTAP1-5), mRNA.	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(22)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	24					0	0	0.150653	0	0
PPARG	5468	broad.mit.edu	37	3	12458613	12458613	+	Silent	SNP	C	C	T	rs148844673		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:12458613C>T	uc003bwx.3	+	5	1321	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	PPARG_uc003bwr.3_Silent_p.S382S|PPARG_uc003bws.3_Silent_p.S382S|PPARG_uc003bwu.3_Silent_p.S382S|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	410	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TAGATGACAGCGACTTGGCAA	0.428000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						7	44					0	0	0.029380	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624735	6624735	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:6624735C>T	uc003sqi.3	+	7	943	c.585C>T	c.(583-585)ctC>ctT	p.L195L	ZDHHC4_uc003sql.3_Silent_p.L195L|ZDHHC4_uc003sqj.3_Silent_p.L195L|ZDHHC4_uc003sqh.3_Silent_p.L195L	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	195						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GGTACTTCCTCATCTACGTCT	0.527000													3	42					0	0	0.115264	0	0
NEU2	4759	broad.mit.edu	37	2	233899633	233899633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:233899633C>A	uc010zmn.2	+	1	1009	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	337							exo-alpha-sialidase activity	p.D336N(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CTACTCAGACCTCCAGAGCAT	0.607000													18	128					5.01169e-05	5.43437e-05	0.160694	1	0
RP1	6101	broad.mit.edu	37	8	55541622	55541622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:55541622A>G	uc003xsd.1	+	3	5328	c.5180A>G	c.(5179-5181)gAt>gGt	p.D1727G	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1727					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACAAAATGATGATAGCAGA	0.393000													6	72					0	0	0.021553	0	0
COBL	23242	broad.mit.edu	37	7	51287614	51287614	+	Silent	SNP	T	T	G	rs145775268	by1000genomes	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:51287614T>G	uc003tps.3	-	1	254	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_uc003tpr.4_Silent_p.P23P|COBL_uc011kcl.2_Silent_p.P23P|COBL_uc010kzc.3_Silent_p.P23P|COBL_uc003tpt.3_Silent_p.P23P	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552000													4	36					0	0	0.184627	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815253	179815253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:179815253G>A	uc001gnl.3	-	6	2180	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.P456S	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	456						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGCTGGACTGGCAGTACCAGG	0.463000													3	71					0	0	0.115264	0	0
XKR9	389668	broad.mit.edu	37	8	71646325	71646325	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:71646325A>G	uc003xyq.3	+	4	1322	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	XKR9_uc010lzd.3_Missense_Mutation_p.Y131C|XKR9_uc010lze.3_Missense_Mutation_p.Y263C	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	263						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAATTCTTATATAGGATTGTT	0.289000													20	56					0	0	0.189662	0	0
MUC16	94025	broad.mit.edu	37	19	9070400	9070400	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:9070400G>A	uc002mkp.3	-	2	17250	c.17046C>T	c.(17044-17046)ccC>ccT	p.P5682P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5684	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5682P(3)|p.P1315P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTCGTTACGGGCTCTGGGC	0.512000													18	27					0	0	0.175082	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17950915	17950915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:17950915G>A	uc001ban.3	+	12	1393	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.D373N|ARHGEF10L_uc001bao.3_Missense_Mutation_p.D373N|ARHGEF10L_uc001bap.3_Missense_Mutation_p.D373N|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.D170N|ARHGEF10L_uc001baq.3_Missense_Mutation_p.D178N|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.D190N|ARHGEF10L_uc001bar.3_Intron|ARHGEF10L_uc009vpf.3_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	412	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGTGTACAGTGACTACGTGAA	0.557000													4	105					0	0	0.150653	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413214	139413214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr9:139413214C>T	uc004chz.3	-	5	928	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	310	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G310R(3)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCAGGTCCCGCCGTTCTGG	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	16					0	0	0.038147	0	0
REEP6	92840	broad.mit.edu	37	19	1495534	1495534	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:1495534C>T	uc002ltc.3	+	2	380	c.276C>T	c.(274-276)taC>taT	p.Y92Y	REEP6_uc010xgp.2_Silent_p.Y92Y	NM_138393	NP_612402	Q96HR9	REEP6_HUMAN	Homo sapiens receptor accessory protein 6 (REEP6), mRNA.	92						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGGTGTACGCCCTGTTTG	0.622000													5	68					0	0	0.021553	0	0
IFNAR2	3455	broad.mit.edu	37	21	34625023	34625023	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:34625023G>A	uc002yrd.3	+	6	925	c.597G>A	c.(595-597)aaG>aaA	p.K199K	IFNAR2_uc002yrb.3_Silent_p.K199K|IFNAR2_uc002yrc.3_Silent_p.K199K|IFNAR2_uc002yre.3_Silent_p.K199K|IFNAR2_uc002yrf.3_Silent_p.K199K|IFNAR2_uc002yri.1_5'UTR|IFNAR2_uc002yrh.1_Silent_p.K49K	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	199					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TCATTGACAAGTTAATTCCAA	0.353000													29	31					0	0	0.144211	0	0
DNAH2	146754	broad.mit.edu	37	17	7662866	7662866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7662866C>T	uc002giu.1	+	14	2589	c.2575C>T	c.(2575-2577)Cca>Tca	p.P859S		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	859	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAAGACCAGCCCAAACCCACT	0.502000													26	35					0	0	0.108266	0	0
ESR2	2100	broad.mit.edu	37	14	64735545	64735545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:64735545C>T	uc001xha.1	-	3	1088	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	ESR2_uc001xgy.2_Missense_Mutation_p.R207Q|ESR2_uc001xgu.3_Missense_Mutation_p.R207Q|ESR2_uc001xgv.3_Missense_Mutation_p.R207Q|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.R207Q|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.R207Q|ESR2_uc001xgz.2_Missense_Mutation_p.R207Q	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	207					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTAACACTTCCGAAGTCGGCA	0.478000													12	90					0	0	0.105934	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400799	195400799	+	Missense_Mutation	SNP	G	G	A	rs7635172	by1000genomes	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:195400799G>A	uc003fuw.3	+	8	1289	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	SDHAP2_uc011btb.1_Silent_p.L179L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CAAACTCGCTGTTGGACCTGG	0.597000													3	22					0	0	0.150653	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758165	40758165	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:40758165G>A	uc001cfg.3	+	9	1463	c.1252G>A	c.(1252-1254)Gct>Act	p.A418T		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	418						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TGAGTTTCAAGCTGATGCATT	0.388000													23	108					0	0	0.069288	0	0
C3	718	broad.mit.edu	37	19	6678249	6678249	+	Silent	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:6678249G>T	uc002mfm.3	-	39	4826	c.4764C>A	c.(4762-4764)atC>atA	p.I1588I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1588	NTR.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCTGCACTTGATGGGGCTGA	0.587000													7	29					2.7689e-08	3.15444e-08	0.029380	1	0
GRIN2A	2903	broad.mit.edu	37	16	9928049	9928049	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:9928049T>A	uc010uym.2	-	8	2000	c.1690A>T	c.(1690-1692)Atg>Ttg	p.M564L	GRIN2A_uc002czo.4_Missense_Mutation_p.M564L|GRIN2A_uc010uyn.2_Missense_Mutation_p.M407L|GRIN2A_uc002czr.4_Missense_Mutation_p.M564L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	564					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGAGCAGCATCACAAACATC	0.428000													4	128					0	0	0.150653	0	0
DMD	1756	broad.mit.edu	37	X	32380909	32380909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:32380909C>T	uc004dda.1	-	36	5565	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	DMD_uc004dcw.2_Missense_Mutation_p.G430E|DMD_uc004dcx.2_Missense_Mutation_p.G433E|DMD_uc004dcz.2_Missense_Mutation_p.G1651E|DMD_uc004dcy.1_Missense_Mutation_p.G1770E|DMD_uc004ddb.1_Missense_Mutation_p.G1766E|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1774	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTTTCCAGTCTTAAT	0.483000													16	26					0	0	0.146539	0	0
LMX1A	4009	broad.mit.edu	37	1	165183011	165183011	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165183011T>C	uc001gcz.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	LMX1A_uc021pdz.1_Missense_Mutation_p.H179R|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCTGCCCCATGGGCTGACTT	0.498000													91	97					0	0	0.139131	0	0
OR9G9	390174	broad.mit.edu	37	11	56468711	56468711	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56468711T>G	uc010rjn.2	+	0	848	c.848T>G	c.(847-849)aTg>aGg	p.M283R	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GTATTCCCCATGTTGAATCTC	0.388000													19	91					0	0	0.175082	0	0
MCF2	4168	broad.mit.edu	37	X	138678852	138678852	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:138678852T>C	uc011mwn.1	-	21	2574	c.2568A>G	c.(2566-2568)acA>acG	p.T856T	MCF2_uc004fav.3_Silent_p.T727T|MCF2_uc004fau.3_Silent_p.T711T|MCF2_uc010nsh.2_Silent_p.T711T|MCF2_uc011mwm.2_Silent_p.T672T|MCF2_uc011mwl.2_Silent_p.T688T|MCF2_uc011mwo.1_Silent_p.T787T|MCF2_uc004faw.2_Silent_p.T771T|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	711					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTTCATTTTTGTAGCACCTT	0.398000													30	46					0	0	0.144211	0	0
TP53	7157	broad.mit.edu	37	17	7578554	7578554	+	Splice_Site	SNP	A	A	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7578554A>C	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(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)		GCAGGGGAGTACTGTAGGAAG	0.557000		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)			8	15					0	0	0.038147	0	0
OR9G4	283189	broad.mit.edu	37	11	56511045	56511045	+	Silent	SNP	C	C	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56511045C>G	uc010rjo.2	-	0	243	c.243G>C	c.(241-243)ctG>ctC	p.L81L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCAAAAAAGACAGATTGCCAA	0.428000													12	76					0	0	0.105934	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933968	49933968	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:49933968C>G	uc002pnp.3	-	11	1663	c.1491G>C	c.(1489-1491)tgG>tgC	p.W497C	SLC17A7_uc002pno.3_Missense_Mutation_p.W159C	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	497					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGGCTCTGCCCACGGCTGCT	0.587000													4	52					0	0	0.150653	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147128	55147128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:55147128delG	uc003pcl.3	+	6	1526	c.1211delG	c.(1210-1212)cggfs	p.R404fs	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	404					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGAGAGCCGGAAGTCCTTG	0.483													12	25	---	---	---	---					
ASCL4	121549	broad.mit.edu	37	12	108169502	108169502	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:108169502delG	uc001tmr.3	+	0	1341	c.510delG	c.(508-510)gagfs	p.E170fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	Homo sapiens achaete-scute complex homolog 4 (Drosophila) (ASCL4), mRNA.	169					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						AGCCCGAGGAGGGGGGCAGCT	0.736													4	7	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577081	7577099	+	Frame_Shift_Del	DEL	TCCTCTGTGCGCCGGTCTC	TCCTCTGTGCGCCGGTCTC	-	rs28934574	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7577081_7577099delTCCTCTGTGCGCCGGTCTC	uc002gim.2	-	7	1033_1051	c.839_857delGAGACCGGCGCACAGAGGA	c.(838-858)agagaccggcgcacagaggaafs	p.R280fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.R280fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.R148fs|TP53_uc010cnf.1_Frame_Shift_Del_p.R148fs|TP53_uc002gii.1_Frame_Shift_Del_p.R148fs|TP53_uc010cni.1_Frame_Shift_Del_p.R280fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R280fs|TP53_uc002gij.2_Frame_Shift_Del_p.R280fs|DL476366_uc021tpf.1_5'Flank|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.	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.E285K(218)|p.R280T(126)|p.E286K(114)|p.R280K(96)|p.R282G(57)|p.D281E(56)|p.R283P(51)|p.R282Q(51)|p.D281N(51)|p.E285*(44)|p.E286*(40)|p.D281H(38)|p.R283C(35)|p.E286G(34)|p.R282P(33)|p.G279E(31)|p.R280I(30)|p.R280S(30)|p.E285V(29)|p.D281Y(27)|p.R283H(26)|p.D281G(20)|p.R282R(19)|p.R280G(19)|p.E286V(17)|p.T284P(17)|p.E285G(10)|p.E286Q(10)|p.D281D(10)|p.D281V(9)|p.E285Q(8)|p.R283R(8)|p.R283L(8)|p.R280*(8)|p.R280fs*65(8)|p.R283fs*62(8)|p.G279R(8)|p.0?(8)|p.R282fs*24(7)|p.E285E(6)|p.T284T(6)|p.R282L(6)|p.R280R(6)|p.T284A(6)|p.R282H(5)|p.R283G(4)|p.E285A(4)|p.D281fs*63(4)|p.E286fs*59(4)|p.D281_R282>EW(4)|p.D281A(4)|p.T284fs*21(4)|p.R280_D281delRD(4)|p.R283fs*16(4)|p.E286fs*17(4)|p.T284fs*61(4)|p.T284fs*62(4)|p.R283fs*63(4)|p.G279V(4)|p.R283fs*23(3)|p.D281>AGPY(3)|p.G279G(3)|p.R283S(2)|p.G279fs*59(2)|p.D281_R282insXX(2)|p.G279_R280delGR(2)|p.F270_D281del12(2)|p.R283fs*56(2)|p.E286D(2)|p.E286E(2)|p.E286A(2)|p.R283fs*59(2)|p.G279fs*27(2)|p.E285_N288delEEEN(2)|p.R283del(2)|p.R283fs*22(2)|p.V272_K292del21(2)|p.D281R(2)|p.E285fs*60(2)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.T284_G293del10(2)|p.D281fs*24(2)|p.E285fs*13(2)|p.T284I(2)|p.L265_K305del41(2)|p.R283_T284>T(2)|p.R282fs*63(2)|p.G279fs*65(2)|p.E285_L289delEEENL(2)|p.G279W(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.T284fs*57(2)|p.D281_R282delDR(2)|p.E285fs*20(2)|p.P278_G279insXXXXX(1)|p.C275fs*20(1)|p.G279fs*26(1)|p.A276fs*64(1)|p.S269fs*21(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)		GAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACA	0.553		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)			15	48	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939864	76939864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:76939864delT	uc004ecp.4	-	8	1116	c.884delA	c.(883-885)aagfs	p.K295fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K257fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K80fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K256fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K295fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K240fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	295	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	TATCTTCTTCTTATTTTGCTG	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						85	11	---	---	---	---					
