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
GRXCR2	643226	broad.mit.edu	37	5	145252483	145252483	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:145252483G>A	uc003lns.1	-	0	49	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	17										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGTACTTTCCGGGGTTTGCCA	0.502000													46	71					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508395	106508395	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr7:106508395G>A	uc003vdv.4	+	1	474	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	PIK3CG_uc003vdu.3_Missense_Mutation_p.R130Q|PIK3CG_uc003vdw.3_Missense_Mutation_p.R130Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	130					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCACGCACCGGAGCCCGGGC	0.632000													3	33					0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69986785	69986785	+	Silent	SNP	T	T	C	rs148371443	by1000genomes	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:69986785T>C	uc001svb.1	+	8	874	c.780T>C	c.(778-780)tcT>tcC	p.S260S	CCT2_uc010stl.1_Silent_p.S213S	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	260					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGTTGACTCTACAGCAAAGG	0.363000													19	31					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40318533	40318533	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:40318533T>A	uc021olz.1	-	3	444	c.430A>T	c.(430-432)Act>Tct	p.T144S	TRIT1_uc001ced.4_Intron|TRIT1_uc001cee.4_Intron|TRIT1_uc001cef.4_Intron|TRIT1_uc001ceg.4_5'UTR|TRIT1_uc001ceh.4_Intron|TRIT1_uc009vvv.3_Missense_Mutation_p.T3S|TRIT1_uc001cei.4_Intron|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Intron|TRIT1_uc001cek.3_Intron|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Missense_Mutation_p.T64S|TRIT1_uc001cen.3_Intron|TRIT1_uc001ceo.3_Intron|TRIT1_uc001cep.3_Intron	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	144					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTTCTCAGTGCCCATCTCC	0.453000													47	104					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526205	31526205	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:31526205G>A	uc003jhg.2	-	3	1194	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	DROSHA_uc003jhh.2_Missense_Mutation_p.R279C|DROSHA_uc003jhi.2_Missense_Mutation_p.R279C|DROSHA_uc010iui.1_Missense_Mutation_p.R270C	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	279	Arg-rich.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R279C(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCGTAGCTGCGGTGGCGAGAT	0.547000													10	90					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr20:29624093G>T	uc010ztl.1	+	1	58	c.26_splice	c.e1+1	p.R9_splice	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299000													3	9					0	0	1	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138078	138078	+	RNA	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chrGL000195.1:138078T>C	uc003won.1	+	0		c.112T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGTTGCCCTGTGATCTGTAGG	0.597000													2	9					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011821	176011821	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:176011821G>T	uc021yie.1	+	18	2813	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	CDHR2_uc003mem.2_Missense_Mutation_p.V847L|CDHR2_uc003men.1_Missense_Mutation_p.V847L	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	847	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GATACAGCTTGTGAACATTCT	0.612000													4	112					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170218996	170218996	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:170218996G>A	uc003fgz.2	-	2	759	c.443C>T	c.(442-444)gCg>gTg	p.A148V	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	148						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCTCCGGCCGCAGTGCCAAT	0.557000													3	45					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1117795	1117795	+	Missense_Mutation	SNP	C	C	G	rs139967804		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:1117795C>G	uc001acy.2	+	9	1036	c.885C>G	c.(883-885)caC>caG	p.H295Q	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.H295Q|TTLL10_uc001acz.2_Missense_Mutation_p.H222Q	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	295	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTCAAACACGAGAGAGAGG	0.622000													15	106					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32312619	32312619	+	Silent	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:32312619A>G	uc002roc.3	+	1	695	c.474A>G	c.(472-474)aaA>aaG	p.K158K	SPAST_uc002rod.3_Silent_p.K158K	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	158	MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTGGAAAAAGGAATAGCTG	0.318000													4	110					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301232	110301232	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:110301232A>G	uc001dyr.2	-	6	740	c.515T>C	c.(514-516)aTg>aCg	p.M172T	EPS8L3_uc001dys.2_Missense_Mutation_p.M172T|EPS8L3_uc001dyq.2_Missense_Mutation_p.M173T|EPS8L3_uc009wfm.2_Missense_Mutation_p.M139T|EPS8L3_uc009wfn.2_Missense_Mutation_p.M139T|EPS8L3_uc009wfo.2_Missense_Mutation_p.M119T	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	172	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGCCTTTCCATAGCAGGCCC	0.597000													24	42					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	103					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45444478	45444478	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:45444478G>A	uc001rok.1	-	0	405	c.233C>T	c.(232-234)gCt>gTt	p.A78V		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AACTGGGCTAGCAGGCAGGGG	0.746000													2	2					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85961671	85961671	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr10:85961671G>A	uc001kcv.3	+	6	739	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	CDHR1_uc001kcw.3_Missense_Mutation_p.A212T|CDHR1_uc009xst.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	212	Cadherin 2.		A -> T.		homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCGTGGTCGCCAAGGTAAC	0.617000													6	17					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4541945	4541945	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:4541945C>A	uc002fyh.3	-	4	602	c.577G>T	c.(577-579)Gtt>Ttt	p.V193F	ALOX15_uc010vsd.2_Missense_Mutation_p.V154F|ALOX15_uc010vse.2_Missense_Mutation_p.V215F	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	193	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CAAGTCAGAACATTTAGAGAG	0.532000													3	65					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102895274	102895274	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr7:102895274T>C	uc003vbh.4	-	8	2379	c.188A>G	c.(187-189)aAt>aGt	p.N63S	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		CATTAGTCCATTTAAAATAAA	0.338000													9	55					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281379	145281379	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:145281379C>G	uc001emn.4	+	3	679	c.309C>G	c.(307-309)tgC>tgG	p.C103W	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.C103W|NOTCH2NL_uc001emo.2_Missense_Mutation_p.C103W|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	103	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GTAAGGAGTGCCAATGGACCG	0.507000													63	641					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112326400	112326400	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:112326400C>G	uc001tta.3	+	10	1337	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	MAPKAPK5_uc001tsz.3_Missense_Mutation_p.L360V	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5), transcript variant 2, mRNA.	360					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CAACCCCATTCTGCGGAAGAG	0.463000													45	64					0	0	1	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340671	39340671	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:39340671A>G	uc002hwe.4	-	1	420	c.379T>C	c.(379-381)Tgt>Cgt	p.C127R		NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA.	146	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGGTTCAACAAGAGGATCCA	0.527000													5	226					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349635	65349635	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr11:65349635G>T	uc001oeo.4	+	8	1757	c.1492G>T	c.(1492-1494)Gcc>Tcc	p.A498S		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	498										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTCGAGGGGGCCAGGGCTGC	0.672000													5	17					0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802730	31802730	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:31802730C>T	uc011acw.2	+	0	137	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	46	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTGCGTTCCTCTCTCTACAGG	0.632000													40	47					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:18844766G>A	uc002zoe.3	+	3		c.2020G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CAGCCTCTGAGGGCAGCAGTG	0.557000													2	4					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69349086	69349086	+	Silent	SNP	T	T	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr6:69349086T>G	uc010kak.3	+	1	795	c.519T>G	c.(517-519)acT>acG	p.T173T	BAI3_uc003pev.4_Silent_p.T173T	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	173					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C172R(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATTATGTACTTGGTTGGAGA	0.413000													3	86					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25785893	25785893	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr4:25785893T>C	uc003gru.4	-	13	2389	c.2237A>G	c.(2236-2238)aAc>aGc	p.N746S	SEL1L3_uc003grv.3_Missense_Mutation_p.N153S	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	746						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCCGTCTGTTCTTTTTTAC	0.418000													8	156					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44865858	44865858	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr15:44865858C>T	uc001ztx.3	-	31	6123	c.6092G>A	c.(6091-6093)cGa>cAa	p.R2031Q	SPG11_uc010bdw.3_Intron|SPG11_uc010ueh.2_Intron|SPG11_uc010uei.2_Missense_Mutation_p.R2031Q|SPG11_uc001zty.1_Missense_Mutation_p.R760Q	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2031					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCGTTTGCATCGGTCAGGCTG	0.547000													9	42					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:207025366G>A	uc002vbg.1	+	2	247	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(10)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	104					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132876	91132876	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chrX:91132876G>T	uc004efk.2	+	1	2482	c.1637G>T	c.(1636-1638)gGg>gTg	p.G546V	PCDH11X_uc004efl.2_Missense_Mutation_p.G546V|PCDH11X_uc010nmv.2_Missense_Mutation_p.G546V|PCDH11X_uc004efm.2_Missense_Mutation_p.G546V|PCDH11X_uc004efn.2_Missense_Mutation_p.G546V|PCDH11X_uc004efo.2_Missense_Mutation_p.G546V|PCDH11X_uc004efh.2_Missense_Mutation_p.G546V|PCDH11X_uc004efj.1_Missense_Mutation_p.G546V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	546	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.N545Y(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAAGATAACGGGGTACCACCC	0.383000													62	12					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235338686	235338686	+	Silent	SNP	T	T	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:235338686T>G	uc021pks.1	-	21	3854	c.3477A>C	c.(3475-3477)tcA>tcC	p.S1159S	ARID4B_uc001hwq.3_Silent_p.S1159S|ARID4B_uc001hwr.3_Silent_p.S1073S|RBM34_uc001hwp.3_Non-coding_Transcript	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCACCAGCTGAAAGTTCTT	0.353000													4	103					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615323	158615323	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:158615323C>G	uc001fst.1	-	27	4157	c.3958G>C	c.(3958-3960)Gac>Cac	p.D1320H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1320					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGTTAAGTCTTCGGCCAGC	0.418000													9	157					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419663	105419663	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr14:105419663C>T	uc010axc.1	-	6	2245	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V609M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	709						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGGCTCACGTCGGCCTCC	0.612000													5	182					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160385959	160385959	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:160385959G>A	uc001fwb.2	+	3	478	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	VANGL2_uc001fwc.2_Missense_Mutation_p.R60Q	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	60					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTCCACACGAGGGGATGAG	0.657000													29	68					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193322	139193322	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:139193322A>C	uc003leu.1	+	2	1005	c.800A>C	c.(799-801)gAc>gCc	p.D267A		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	267	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGACACGGACAAGTTGCTG	0.607000													7	14					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127800512	127800512	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127800512C>A	uc003kuu.3	-	5	1170	c.731G>T	c.(730-732)gGa>gTa	p.G244V	FBN2_uc003kuv.2_Missense_Mutation_p.G211V|FBN2_uc003kuw.4_Missense_Mutation_p.G244V	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	244	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCACGCCCGTCCAATGGTGGC	0.602000													46	56					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14212034	14212034	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:14212034G>T	uc011ave.2	-	2	420	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	XPC_uc011avf.2_5'UTR|XPC_uc011avg.2_Missense_Mutation_p.L106I	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	106	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTTCTTGAGGTCACTTGGA	0.428000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	130					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091782	220091782	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:220091782G>A	uc001hlw.3	-	2	984	c.773C>T	c.(772-774)aCg>aTg	p.T258M	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Non-coding_Transcript|SLC30A10_uc001hlv.3_Missense_Mutation_p.T13M|SLC30A10_uc001hlx.3_Missense_Mutation_p.T33M	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	258					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	p.T258T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TATGATGGCCGTGATGACCAC	0.512000													52	88					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209204774	209204774	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:209204774A>C	uc002vcz.3	+	30	5008	c.4850A>C	c.(4849-4851)cAa>cCa	p.Q1617P		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1617					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGACAGCCAAGTGAAGGAA	0.328000													59	59					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19499502	19499502	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:19499502G>A	uc001bbi.3	-	24	3381	c.3377C>T	c.(3376-3378)gCc>gTc	p.A1126V	UBR4_uc001bbm.1_Missense_Mutation_p.A337V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1126					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGAGATCGCGGCATCAAGGGT	0.443000													3	45					0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144714783	144714783	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:144714783T>A	uc002tvp.3	-	8	1388	c.1109A>T	c.(1108-1110)cAt>cTt	p.H370L	GTDC1_uc002tvo.3_Intron|GTDC1_uc021vqf.1_Intron|GTDC1_uc010fnn.3_Missense_Mutation_p.H370L|GTDC1_uc002tvs.3_Missense_Mutation_p.H338L|GTDC1_uc021vqg.1_Missense_Mutation_p.H252L|GTDC1_uc002tvr.3_Intron|GTDC1_uc010fno.3_Missense_Mutation_p.H241L	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	370					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AAAGAATTCATGCTTAGCTGT	0.388000													21	40					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100388075	100388075	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr9:100388075T>C	uc004axn.3	-	2	858	c.370A>G	c.(370-372)Agt>Ggt	p.S124G	TSTD2_uc004axo.3_5'UTR|TSTD2_uc004axp.1_5'UTR	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	124										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GACGAAAGACTCTTTGAGGTG	0.438000													53	69					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52379005	52379005	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:52379005A>G	uc010snn.2	+	6	1209	c.1132A>G	c.(1132-1134)Aag>Gag	p.K378E	ACVR1B_uc001rzl.3_Missense_Mutation_p.K337E|ACVR1B_uc001rzm.3_Missense_Mutation_p.K337E|ACVR1B_uc001rzn.3_Missense_Mutation_p.K337E|ACVR1B_uc021qya.1_Missense_Mutation_p.K285E	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	337	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.T377fs*16(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCGAGACTTAAAGTCAAAGAA	0.438000													18	29					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575993	12575993	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr19:12575993C>T	uc002mtv.4	-	3	904	c.743G>A	c.(742-744)gGa>gAa	p.G248E	ZNF709_uc002mtw.4_Missense_Mutation_p.G216E|ZNF709_uc002mtx.4_Missense_Mutation_p.G248E	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GGGTTTCTCTCCAGAGTGAGT	0.388000													4	53					0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47095356	47095356	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:47095356G>A	uc003bia.3	-	7	904	c.797C>T	c.(796-798)tCg>tTg	p.S266L	CERK_uc010hae.3_Missense_Mutation_p.S68L	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	266	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATGGCCAGCGAGTCCCCTGT	0.617000													46	98					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40668227	40668227	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:40668227C>T	uc002yxk.2	-	5	707	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	BRWD1_uc021wjf.1_Missense_Mutation_p.E138K	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTGGCATTTCAGGAGGTCTT	0.378000													54	31					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457106	20457106	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:20457106C>T	uc002zsd.4	-	0	4681	c.4196G>A	c.(4195-4197)aGg>aAg	p.R1399K	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGGCTCCCTCCTCTCCTCTCG	0.607000													13	78					0	0	1	0	0
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr4:71554620_71554622delGAG	uc003hfo.3	+	0	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													7	52	---	---	---	---					
SLC12A2	6558	broad.mit.edu	37	5	127419938	127419955	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCGGCA	-	-			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127419938_127419955delGCGGCGGCGGCGGCGGCA	uc003kus.3	+	0	456_473	c.292_309delGCGGCGGCGGCGGCGGCA	c.(292-309)gcggcggcggcggcggcadel	p.AAAAAA98del	FLJ33630_uc003kun.3_5'Flank|FLJ33630_uc003kuo.3_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.3_5'Flank|SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_In_Frame_Del_p.AAAAAA98del	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	98	Ala-rich.				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCTgcggcggcggcggcggcggcggcagcggcggcgg	0.771													8	3	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58559108	58559109	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr16:58559108_58559109insT	uc002env.3	-	45	7051_7052	c.6758_6759insA	c.(6757-6759)aatfs	p.N2253fs	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Frame_Shift_Ins_p.N2248fs|CNOT1_uc002ent.3_Frame_Shift_Ins_p.N191fs|CNOT1_uc010vik.2_Frame_Shift_Ins_p.N1210fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2253					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCACAGCCAAATTCTGGAAGAT	0.470													9	243	---	---	---	---					
NCOR1	9611	broad.mit.edu	37	17	15968316	15968317	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:15968316_15968317insG	uc002gpo.3	-	33	5237_5238	c.4968_4969insC	c.(4966-4971)accaatfs	p.T1656fs	NCOR1_uc002gpn.3_Frame_Shift_Ins_p.T1672fs|NCOR1_uc002gpm.3_Frame_Shift_Ins_p.T176fs|NCOR1_uc010vwb.2_Frame_Shift_Ins_p.T240fs|NCOR1_uc010coy.3_Frame_Shift_Ins_p.T564fs|NCOR1_uc010vwc.2_Frame_Shift_Ins_p.T466fs	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1656	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGAGGCATATTGGTCAGGTCAA	0.396													80	169	---	---	---	---					
