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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FKBP5	2289	broad.mit.edu	37	6	35604901	35604901	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:35604901G>A	uc011dte.1	-	2	343	c.140C>T	c.(139-141)cCg>cTg	p.P47L	FKBP5_uc003okx.2_Missense_Mutation_p.P47L|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.P47L|FKBP5_uc003okz.2_Missense_Mutation_p.P47L	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	47	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCCAATCATCGGCGTTTCCTC	0.338000														61			4		0	0	0.014758	0	0
MUC5B	727897	broad.mit.edu	37	11	1250411	1250411	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:1250411C>G	uc001lta.3	+	8	1047	c.988C>G	c.(988-990)Ccc>Gcc	p.P330A	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.P330A	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	330	TIL 1.			PL -> T (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGACCTGCCCCCTCAACAT	0.687000														31			9		0	0	0.006214	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376844	138376844	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr9:138376844C>T	uc022bpi.1	+	0	488	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PPP1R26_uc004cfr.1_Missense_Mutation_p.S163F	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	163						nucleolus	protein binding										GCCCAGCCTTCCAGGGCCGCA	0.662000														124			39		0	0	0.019004	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	71145	71145	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrGL000209.1:71145G>C	uc002qui.2	+	1	50	c.39G>C	c.(37-39)ttG>ttC	p.L13F	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.L10F|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Missense_Mutation_p.L13F|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	13					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTCTAGGGTTGTTCTTGGTCC	0.557000														82			6		0	0	0.038147	0	0
STRN3	29966	broad.mit.edu	37	14	31404475	31404475	+	Silent	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:31404475G>A	uc001wqu.2	-	6	1098	c.882C>T	c.(880-882)gaC>gaT	p.D294D	STRN3_uc001wqv.2_Silent_p.D294D|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	294					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TATCAGGATCGTCAGTTAGGT	0.398000														90			35		0	0	0.012213	0	0
LRP2	4036	broad.mit.edu	37	2	170070366	170070366	+	Silent	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:170070366G>A	uc002ues.3	-	35	6054	c.5841C>T	c.(5839-5841)aaC>aaT	p.N1947N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1947					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCATCCACGTTTCCTCTTT	0.353000														65			18		0	0	0.033300	0	0
BTF3	689	broad.mit.edu	37	5	72798334	72798334	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798334A>G	uc003kcr.1	+	2	466	c.223A>G	c.(223-225)Aag>Gag	p.K75E	BTF3_uc003kcq.1_Missense_Mutation_p.K31E	NM_001037637	NP_001198	P20290	BTF3_HUMAN	Homo sapiens basic transcription factor 3 (BTF3), transcript variant 1, mRNA.	75				Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CAGAAAGAAGAAGGTGGTTCA	0.383000														45			10		0	0	0.008291	0	0
RPSA	3921	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567000														92			5		0	0	0.021553	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														107			8		0	0	0.038147	0	0
ATR	545	broad.mit.edu	37	3	142281392	142281392	+	Silent	SNP	A	G	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:142281392A>G	uc003eux.4	-	3	974	c.852T>C	c.(850-852)gaT>gaC	p.D284D		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	284					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTGGTCAGTATCCATTTCTA	0.348000								Other conserved DNA damage response genes						135			9		0	0	0.004482	0	0
SLC36A3	285641	broad.mit.edu	37	5	150660632	150660632	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:150660632C>G	uc003ltx.2	-	9	1629	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	SLC36A3_uc003ltv.2_Missense_Mutation_p.E348Q|SLC36A3_uc003ltw.2_Missense_Mutation_p.E363Q	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	363						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCAGCTCTCTGACACTTGG	0.507000														139			14		0	0	0.020292	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	G	G	rs115565146	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:32725596C>G	uc003obz.2	-	3	794	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000														47			5		0	0	0.021553	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153631476	153631476	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:153631476C>T	uc004fks.1	-	6	772	c.581G>A	c.(580-582)cGc>cAc	p.R194H	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Missense_Mutation_p.R194H|DNASE1L1_uc004fku.1_Missense_Mutation_p.R194H|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R194H|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R194H	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	194					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGTCCAGGCGCTTTTTGGT	0.612000														211			68		0	0	0.014410	0	0
SCN5A	6331	broad.mit.edu	37	3	38593036	38593036	+	Silent	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:38593036C>T	uc021wvo.1	-	26	4879	c.4827G>A	c.(4825-4827)tcG>tcA	p.S1609S	SCN5A_uc021wvk.1_Silent_p.S1576S|SCN5A_uc021wvl.1_Silent_p.S1555S|SCN5A_uc021wvm.1_Silent_p.S1591S|SCN5A_uc021wvn.1_Silent_p.S1608S|SCN5A_uc021wvp.1_Silent_p.S1609S|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.S1421S|SCN5A_uc021wvi.1_Silent_p.S1475S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1609			S -> W (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGATGATGTCCGAGAGCACAG	0.612000														153			30		0	0	0.041601	0	0
FTCD	10841	broad.mit.edu	37	21	47556871	47556871	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr21:47556871C>T	uc002zig.3	-	13	1680	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T	FTCD_uc002zie.3_Non-coding_Transcript|FTCD_uc002zif.3_Intron|FTCD_uc002zih.3_3'UTR|FTCD_uc010gqf.3_3'UTR			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	53					folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAGGGAGGGGCCACAGAGCCC	0.697000														38			20		0	0	0.012319	0	0
ARMC12	221481	broad.mit.edu	37	6	35716363	35716363	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:35716363C>T	uc003ola.3	+	5	847	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	ARMC12_uc003olb.1_Missense_Mutation_p.L237F	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	247							binding										GTCAGGGAGTCTCCTGTATGA	0.507000														132			8		0	0	0.038147	0	0
ZNF628	89887	broad.mit.edu	37	19	55993096	55993096	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:55993096G>C	uc021vbv.1	+	0	524	c.524G>C	c.(523-525)gGa>gCa	p.G175A	ZNF628_uc002qld.2_Missense_Mutation_p.G175A	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	175						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TACACCTGTGGAGTCTGCGGG	0.711000														58			13		0	0	0.016723	0	0
IGDCC4	57722	broad.mit.edu	37	15	65703590	65703590	+	Silent	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:65703590G>A	uc002aou.1	-	1	399	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	63	Ig-like C2-type 1.|Poly-Ala.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGGTCCAGCGGCAGCAGCCC	0.642000														84			7		0	0	0.029380	0	0
RPA2	6118	broad.mit.edu	37	1	28240605	28240605	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:28240605G>A	uc001bpe.1	-	1	368	c.86C>T	c.(85-87)tCg>tTg	p.S29L	RPA2_uc010ofp.1_5'UTR	NM_002946	NP_002937	P15927	RFA2_HUMAN	Homo sapiens replication protein A2, 32kDa (RPA2), mRNA.	29	Gly/Ser-rich.				DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCGGGCGATCCAAAGCC	0.502000								Direct reversal of damage;Nucleotide excision repair (NER)						91			8		0	0	0.006214	0	0
ATP4A	495	broad.mit.edu	37	19	36050774	36050774	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:36050774C>T	uc002oal.1	-	6	1018	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	330					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GACCATGGCCCGCAGGAAGGT	0.582000														104			24		0	0	0.016522	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr9:66499680C>A	uc004aee.1	+	0	490	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000														113			9		0.000274275	0.000280654	0.004482	1	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														28			5		0	0	0.038147	0	0
DLL4	54567	broad.mit.edu	37	15	41224371	41224371	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:41224371A>T	uc001zng.2	+	4	997	c.661A>T	c.(661-663)Atc>Ttc	p.I221F		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	221	EGF-like 1.				Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCCCTTAGCTATCTGTCTTTC	0.577000														111			6		0	0	0.021553	0	0
SYT15	83849	broad.mit.edu	37	10	46965752	46965752	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:46965752C>T	uc001jea.3	-	4	938	c.785G>A	c.(784-786)cGt>cAt	p.R262H	SYT15_uc001jdz.2_Missense_Mutation_p.R262H|SYT15_uc001jeb.3_Missense_Mutation_p.R140H|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	262						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCAGATGACACGCCGGCAGTC	0.607000														135			13		0	0	0.020292	0	0
RYR3	6263	broad.mit.edu	37	15	34102719	34102719	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:34102719C>T	uc001zhi.3	+	70	10136	c.10066C>T	c.(10066-10068)Cgg>Tgg	p.R3356W	RYR3_uc010bar.3_Missense_Mutation_p.R3351W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3356					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACAAAGCGGCGGGGAGACTT	0.512000														64			22		0	0	0.010504	0	0
KIF3C	3797	broad.mit.edu	37	2	26204102	26204102	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:26204102G>A	uc002rgu.2	-	0	1342	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.R229C	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	229	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGAGCCACGTTCGCTGCAC	0.627000														176			14		0	0	0.016723	0	0
GNAO1	2775	broad.mit.edu	37	16	56362667	56362667	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:56362667G>A	uc002eit.4	+	3	1325	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	GNAO1_uc002eiu.4_Missense_Mutation_p.R143Q	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	143					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGCTTCAACCGGTCCCGGGAG	0.607000														97			26		0	0	0.021523	0	0
HCN4	10021	broad.mit.edu	37	15	73614835	73614835	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:73614835G>A	uc002avp.3	-	7	4593	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1200					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TAGATTGGATGGCAGTTTGGA	0.542000														19			3		0	0	0.014758	0	0
ZNF71	58491	broad.mit.edu	37	19	57133444	57133444	+	Silent	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:57133444G>A	uc002qnm.4	+	2	1027	c.789G>A	c.(787-789)acG>acA	p.T263T	ZNF71_uc021vcg.1_Silent_p.T263T	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGCGCACGCACACCGGGG	0.677000														204			18		0	0	0.033300	0	0
BTF3	689	broad.mit.edu	37	5	72798335	72798335	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798335A>T	uc003kcr.1	+	2	467	c.224A>T	c.(223-225)aAg>aTg	p.K75M	BTF3_uc003kcq.1_Missense_Mutation_p.K31M	NM_001037637	NP_001198	P20290	BTF3_HUMAN	Homo sapiens basic transcription factor 3 (BTF3), transcript variant 1, mRNA.	75				Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		AGAAAGAAGAAGGTGGTTCAT	0.388000														44			10		0	0	0.008291	0	0
LOC401010	401010	broad.mit.edu	37	2	132200436	132200436	+	Silent	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:132200436G>A	uc002tst.2	-	0	2032	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CCTCGGTGTCGTCCTCTTCAC	0.537000														61			8		0	0	0.038147	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802911	185802911	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:185802911G>C	uc002uph.3	+	3	3382	c.2788G>C	c.(2788-2790)Gac>Cac	p.D930H		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	930						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAGCAATTGACAATACCCT	0.378000														117			10		0	0	0.008291	0	0
TPO	7173	broad.mit.edu	37	2	1426892	1426892	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:1426892C>T	uc002qwr.3	+	2	256	c.170C>T	c.(169-171)aCg>aTg	p.T57M	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.T57M|TPO_uc002qww.3_Missense_Mutation_p.T57M|TPO_uc002qwx.3_Missense_Mutation_p.T57M|TPO_uc002qwu.3_Missense_Mutation_p.T57M|TPO_uc010yio.2_Missense_Mutation_p.T57M|TPO_uc010yip.2_Missense_Mutation_p.T57M	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	57					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATGTACGCCACGATGCAGAGG	0.592000														88			14		0	0	0.024245	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269599	30269599	+	Missense_Mutation	SNP	C	T	T	rs145293151		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:30269599C>T	uc022buh.1	+	0	989	c.989C>T	c.(988-990)aCg>aTg	p.T330M	MAGEB1_uc004dcc.3_Missense_Mutation_p.T330M|MAGEB1_uc004dcd.3_Missense_Mutation_p.T330M|MAGEB1_uc004dce.3_Missense_Mutation_p.T330M	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	330								p.A329V(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTACTGCCACGACTTTTAGA	0.527000														145			31		0	0	0.013726	0	0
PCLO	27445	broad.mit.edu	37	7	82544266	82544266	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:82544266G>T	uc003uhx.2	-	6	13325	c.13036C>A	c.(13036-13038)Caa>Aaa	p.Q4346K	PCLO_uc003uhv.2_Missense_Mutation_p.Q4346K|PCLO_uc010lec.3_Missense_Mutation_p.Q1311K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4277					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTCTACTTTGACTAATTGGC	0.488000														140			15		2.23348e-06	2.31231e-06	0.028581	1	0
abParts	0	broad.mit.edu	37	14	106359441	106359441	+	Splice_Site	SNP	A	G	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:106359441A>G	uc021ser.1	-	3751		c.56962_splice	c.e3751-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		ACCCCCTGACAATAACCACAC	0.622000														31			4		0	0	0.024245	0	0
ECI2	10455	broad.mit.edu	37	6	4119468	4119468	+	Silent	SNP	C	T	T	rs114924821		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:4119468C>T	uc003mwf.3	-	7	874	c.837G>A	c.(835-837)ccG>ccA	p.P279P	C6orf201_uc003mwa.4_Intron|C6orf201_uc003mvz.4_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.4_Intron|ECI2_uc021yku.1_Silent_p.P249P|ECI2_uc003mwc.3_Silent_p.P107P|ECI2_uc003mwd.3_Silent_p.P249P|ECI2_uc003mwe.3_Silent_p.P126P|ECI2_uc010jnr.1_Non-coding_Transcript	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	279	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AGCATCCTTCCGGACTTTGGC	0.363000														100			12		0	0	0.020292	0	0
BANP	54971	broad.mit.edu	37	16	88066732	88066732	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:88066732C>T	uc002fkr.3	+	8	1278	c.1057C>T	c.(1057-1059)Cca>Tca	p.P353S	BANP_uc010vov.2_Missense_Mutation_p.P328S|BANP_uc002fkq.3_Missense_Mutation_p.P322S|BANP_uc002fks.4_Missense_Mutation_p.P322S|BANP_uc002fkp.3_Missense_Mutation_p.P322S|BANP_uc010vow.2_Missense_Mutation_p.P361S|BANP_uc021tml.1_Missense_Mutation_p.P361S|BANP_uc002fko.1_Missense_Mutation_p.P258S	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	353	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GATGAGCACCCCACCTCCTGC	0.647000														85			5		0	0	0.021553	0	0
ATP12A	479	broad.mit.edu	37	13	25263488	25263488	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr13:25263488C>T	uc010aaa.3	+	4	854	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ATP12A_uc001upp.3_Missense_Mutation_p.S174F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	174					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AACATCATGTCCAGCTTCAAT	0.537000														101			7		0	0	0.029380	0	0
POU5F2	134187	broad.mit.edu	37	5	93077092	93077092	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:93077092C>T	uc003kkl.1	-	0	218	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		ATCCTCCACACGTCAGGGCCT	0.672000														78			5		0	0	0.021553	0	0
SASH3	54440	broad.mit.edu	37	X	128927070	128927070	+	Silent	SNP	C	A	A	rs142835579		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:128927070C>A	uc004euu.3	+	6	1089	c.907C>A	c.(907-909)Cgg>Agg	p.R303R	SASH3_uc011muo.1_Silent_p.R270R	NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	303	SAM.							p.R303R(2)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCCACAGCACCGGGCCAAGCT	0.587000														166			43		5.48756e-27	5.81814e-27	0.042209	1	0
LOC646214	646214	broad.mit.edu	37	15	21936414	21936414	+	RNA	SNP	G	C	C	rs144232485	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:21936414G>C	uc010tzj.1	-	0		c.4326C>G								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATTTTCTCTTGGTTGTCTTCA	0.348000														25			5		0	0	0.014758	0	0
OTOP3	347741	broad.mit.edu	37	17	72943167	72943167	+	Missense_Mutation	SNP	C	T	T	rs145029319		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:72943167C>T	uc010wrr.2	+	5	1217	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M	OTOP3_uc010wrq.2_Missense_Mutation_p.T388M	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	406						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GAGCTGGACACGGTCAAGAAC	0.607000														120			16		0	0	0.028581	0	0
DPYSL5	56896	broad.mit.edu	37	2	27156166	27156166	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:27156166C>T	uc002rhu.4	+	6	913	c.755C>T	c.(754-756)tCg>tTg	p.S252L	DPYSL5_uc002rhv.4_Missense_Mutation_p.S252L|DPYSL5_uc021vev.1_Missense_Mutation_p.S252L	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	252					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.S252L(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGTATCTCGGCTGGTGAC	0.517000														122			19		0	0	0.014323	0	0
ATP5F1	515	broad.mit.edu	37	1	111992095	111992095	+	Missense_Mutation	SNP	C	T	T	rs11553278	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:111992095C>T	uc009wgf.1	+	1	389	c.373C>T	c.(373-375)Cct>Tct	p.P125S	WDR77_uc001ebb.3_5'Flank|WDR77_uc010owe.2_5'Flank|WDR77_uc021orq.1_5'Flank|ATP5F1_uc001ebc.3_5'UTR	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	0					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCATCTTGGTCCTGCCCTGAC	0.498000														132			7		0	0	0.029380	0	0
OBSL1	23363	broad.mit.edu	37	2	220428119	220428119	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:220428119C>T	uc010fwk.3	-	6	2952	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.2_Missense_Mutation_p.V880I|OBSL1_uc002vmi.3_Missense_Mutation_p.V880I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	880	Ig-like 6.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCTCCAGCGACGCACTGAAAC	0.662000														86			10		0	0	0.006214	0	0
LOC646214	646214	broad.mit.edu	37	15	21936415	21936415	+	RNA	SNP	G	A	A	rs141023927	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:21936415G>A	uc010tzj.1	-	0		c.4325C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TTTTCTCTTGGTTGTCTTCAG	0.343000														25			5		0	0	0.014758	0	0
CTSK	1513	broad.mit.edu	37	1	150776542	150776542	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:150776542C>G	uc001evp.2	-	4	802	c.573G>C	c.(571-573)aaG>aaC	p.K191N		NM_000396	NP_000387	P43235	CATK_HUMAN	Homo sapiens cathepsin K (CTSK), mRNA.	191					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACCCCGGTTCTTCTGCACAT	0.493000														245			18		0	0	0.008871	0	0
OTX2	5015	broad.mit.edu	37	14	57268475	57268475	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:57268475G>A	uc001xcq.3	-	4	1146	c.872C>T	c.(871-873)tCg>tTg	p.S291L	OTX2_uc001xcp.3_Missense_Mutation_p.S283L|OTX2_uc021rtm.1_Missense_Mutation_p.S113L|OTX2_uc010aou.3_Missense_Mutation_p.S283L	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	283					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAATTTCCACGAGGATGTCTG	0.408000														129			30		0	0	0.041601	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									152			11		0	0	0.008291	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952326	16952326	+	RNA	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:16952326G>A	uc010ocf.2	-	1		c.322C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript|CROCCP2_uc001azg.1_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GGGAGCTGTTGCTCCAGCGCC	0.652000														12			3		0	0	0.004672	0	0
BZRAP1	9256	broad.mit.edu	37	17	56390036	56390036	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:56390036C>G	uc002ivx.4	-	16	3017	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	BZRAP1_uc010dcs.3_Missense_Mutation_p.E656Q|BZRAP1_uc010wnt.2_Missense_Mutation_p.E716Q	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	716	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACACACGCTCTACAAAATTG	0.592000														89			11		0	0	0.010729	0	0
SPANXC	64663	broad.mit.edu	37	X	140335774	140335774	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:140335774C>T	uc004fbk.3	-	1	226	c.170G>A	c.(169-171)aGg>aAg	p.R57K	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	57						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TTTCACGTTCCTCCTGTAGCG	0.502000														468			81		0	0	0.014410	0	0
HK1	3098	broad.mit.edu	37	10	71060524	71060524	+	Splice_Site	SNP	G	A	A	rs57118523	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:71060524G>A	uc001jpg.4	+	5	434	c.-65_splice	c.e5-1		HK1_uc009xqc.1_Intron|HK1_uc001jph.4_Intron|HK1_uc001jpi.4_Intron|HK1_uc001jpj.4_Intron	NM_033500	NP_277035	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.						glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCTCTTTTCAGCATTGTTGAT	0.448000														57			4		0	0	0.014758	0	0
SLC30A7	148867	broad.mit.edu	37	1	101379319	101379319	+	Silent	SNP	T	C	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:101379319T>C	uc001dtn.2	+	5	799	c.612T>C	c.(610-612)caT>caC	p.H204H	SLC30A7_uc001dto.2_Silent_p.H204H	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.	204	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GTGCTGCACATAGCCATGATC	0.463000														71			25		0	0	0.016522	0	0
CABIN1	23523	broad.mit.edu	37	22	24451432	24451432	+	Silent	SNP	G	A	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:24451432G>A	uc002zzi.1	+	8	1030	c.903G>A	c.(901-903)tcG>tcA	p.S301S	CABIN1_uc021wnc.1_Silent_p.S251S|CABIN1_uc002zzj.1_Silent_p.S251S|CABIN1_uc002zzl.2_Silent_p.S301S|CABIN1_uc010guk.1_Silent_p.S256S|CABIN1_uc002zzk.2_Silent_p.S256S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	301					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGATTTGTCGGACTACCAGG	0.572000														137			33		0	0	0.012213	0	0
PALLD	23022	broad.mit.edu	37	4	169837051	169837051	+	Missense_Mutation	SNP	G	A	A	rs114171764	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr4:169837051G>A	uc011cjx.2	+	16	2934	c.2723G>A	c.(2722-2724)cGt>cAt	p.R908H	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.R891H|PALLD_uc003irv.3_Missense_Mutation_p.R509H|PALLD_uc003irw.3_Missense_Mutation_p.R404H|PALLD_uc003irx.3_Missense_Mutation_p.R117H	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1115					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCAAGGCCTCGTTCTAGATCA	0.393000									Pancreatic Cancer, Familial Clustering of					68			36		0	0	0.019004	0	0
TRPV6	55503	broad.mit.edu	37	7	142574925	142574925	+	Missense_Mutation	SNP	G	A	A	rs148239732		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:142574925G>A	uc003wbx.2	-	3	686	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.R24C	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	153					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGACTACGGCGGAAGGCAGTG	0.622000														133			31		0	0	0.037714	0	0
WNT7A	7476	broad.mit.edu	37	3	13860779	13860779	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:13860779C>T	uc003bye.1	-	3	1017	c.712G>A	c.(712-714)Gtg>Atg	p.V238M		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	238					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ACAGGCTCCACGTGAACGGCC	0.602000														217			16		0	0	0.028581	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	54	---	---	16	---					
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:214557049_214557051delCCT	uc001hkk.2	-	12	2800_2802	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													---	185	---	---	8	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													---	10	---	---	6	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:227660808_227660810delGCT	uc021vxn.1	-	0	2645_2647	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_uc002voh.4_In_Frame_Del_p.Q882del	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													---	217	---	---	7	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	-	-	rs2622736	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:137880741_137880743delTCG	uc003erv.3	-	7	1777_1779	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_uc003eru.3_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.3_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	541						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													---	185	---	---	7	---					
FGFBP1	9982	broad.mit.edu	37	4	15938178	15938178	+	Frame_Shift_Del	DEL	T	-	-	rs144178676		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr4:15938178delT	uc003gom.3	-	2	373	c.78delA	c.(76-78)aaafs	p.K26fs	FGFBP1_uc021xml.1_Frame_Shift_Del_p.K26fs	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	26					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CATTCTTCACTTTTTTTTTCC	0.527													---	174	---	---	9	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	212	---	---	8	---					
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr9:102590616_102590618delCAC	uc022bky.1	+	3	1093_1095	c.325_327delCAC	c.(325-327)cacdel	p.H119del	NR4A3_uc004bae.3_In_Frame_Del_p.H108del|NR4A3_uc004baf.1_In_Frame_Del_p.H108del	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								---	149	---	---	7	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:125528165_125528167delCAG	uc001lhk.1	-	8	1499_1501	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													---	502	---	---	7	---					
C1QTNF5	114902	broad.mit.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:119210189_119210190insC	uc001pwj.2	-	14	3379_3380	c.583_584insG	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													---	226	---	---	8	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	606	---	---	14	---					
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:30531249_30531251delGCT	uc002dyi.4	+	29	3476_3478	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_uc002dyj.4_In_Frame_Del_p.L1022del|ITGAL_uc010vev.2_In_Frame_Del_p.L340del	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1106					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													---	402	---	---	7	---					
TP53	7157	broad.mit.edu	37	17	7578411	7578412	+	In_Frame_Ins	INS	-	ACG	ACG			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7578411_7578412insACG	uc002gim.2	-	4	712_713	c.518_519insCGT	c.(517-519)gtg>gtCGTg	p.173_173V>VV	TP53_uc002gig.1_In_Frame_Ins_p.173_173V>VV|TP53_uc002gih.3_In_Frame_Ins_p.173_173V>VV|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Ins_p.41_41V>VV|TP53_uc010cnf.1_In_Frame_Ins_p.41_41V>VV|TP53_uc002gii.1_In_Frame_Ins_p.41_41V>VV|TP53_uc010cni.1_In_Frame_Ins_p.173_173V>VV|TP53_uc010cnh.1_In_Frame_Ins_p.173_173V>VV|TP53_uc002gij.2_In_Frame_Ins_p.173_173V>VV|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Ins_p.80_80V>VV|TP53_uc002gio.2_In_Frame_Ins_p.41_41V>VV|TP53_uc010vug.2_In_Frame_Ins_p.134_134V>VV	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(57)|p.V173M(42)|p.V173A(24)|p.V173V(16)|p.V172F(13)|p.V173G(12)|p.V172D(8)|p.0?(8)|p.V172I(7)|p.V172A(4)|p.V173fs*1(4)|p.V173fs*7(4)|p.V173fs*59(4)|p.V172fs*2(4)|p.V172V(4)|p.V172G(4)|p.V157_C176del20(2)|p.V172_R174delVVR(2)|p.V173fs*69(2)|p.P151_V173del23(2)|p.V173fs*23(2)|p.V172_E180delVVRRCPHHE(2)|p.V173E(2)|p.V173W(2)|p.E171_H179delEVVRRCPHH(2)|p.K164_P219del(1)|p.E171fs*61(1)|p.V41fs*7(1)|p.E171fs*1(1)|p.V173fs*8(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.E171_V172delEV(1)|p.R174fs*7(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)		GGCAGCGCCTCACAACCTCCGT	0.658		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)			---	110	---	---	56	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:38978766_38978768delTCC	uc002hvi.3	-	0	96_98	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													---	82	---	---	10	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:102004419_102004421delGAG	uc022cbi.1	+	0	496_498	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_uc010nog.3_In_Frame_Del_p.E171del|BHLHB9_uc011mrq.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrr.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrs.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrt.2_In_Frame_Del_p.E171del|BHLHB9_uc004ejo.3_In_Frame_Del_p.E171del|BHLHB9_uc011mru.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrv.2_In_Frame_Del_p.E171del	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													---	410	---	---	9	---					
