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
PTCHD2	57540	broad.mit.edu	37	1	11596726	11596726	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:11596726G>T	uc001ash.4	+	20	4300	c.4162G>T	c.(4162-4164)Gca>Tca	p.A1388S		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1388					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCCCTGCCCGCAGGGGCCTC	0.662												
HSPA7	3311	broad.mit.edu	37	1	161577088	161577088	+	Silent	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:161577088C>T	uc010pkp.1	+	0	1240	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		TTCATGACTTCGTCCTGGGGG	0.592												
RYR2	6262	broad.mit.edu	37	1	237948008	237948008	+	Silent	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:237948008C>G	uc001hyl.1	+	89	13116	c.12996C>G	c.(12994-12996)gcC>gcG	p.A4332A	RYR2_uc010pya.2_Silent_p.A747A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4332					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.M4332I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTGTTAGCCAACATGCCAG	0.557												
SMYD3	64754	broad.mit.edu	37	1	246027126	246027126	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:246027126T>G	uc001ibl.3	-	8	1001	c.876A>C	c.(874-876)aaA>aaC	p.K292N	SMYD3_uc001ibk.3_Missense_Mutation_p.K233N|SMYD3_uc001ibj.3_Missense_Mutation_p.K103N	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	292						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GTTCTTCAATTTTTTTCAGGG	0.423												
EGR2	1959	broad.mit.edu	37	10	64574066	64574066	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:64574066C>G	uc010qio.2	-	2	391	c.371G>C	c.(370-372)gGc>gCc	p.G124A	EGR2_uc010qim.2_Missense_Mutation_p.G111A|EGR2_uc010qin.2_Missense_Mutation_p.G61A|EGR2_uc001jmi.3_Missense_Mutation_p.G111A|EGR2_uc009xph.3_Missense_Mutation_p.G111A	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	111					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATTGATTATGCCTTCTGGGTA	0.547												
ATE1	11101	broad.mit.edu	37	10	123683779	123683779	+	Splice_Site	DEL	A	A	-			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:123683779delA	uc001lfp.3	-	2	252	c.170_splice	c.e2+1	p.R57_splice	ATE1_uc001lfq.3_Splice_Site_p.R57_splice|ATE1_uc010qtr.2_Splice_Site|ATE1_uc010qts.2_Intron|ATE1_uc010qtt.2_Splice_Site_p.R50_splice|ATE1_uc001lfr.3_Splice_Site|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	57					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGAAGCTTTACCTTCGCCAT	0.413												
ART1	417	broad.mit.edu	37	11	3681476	3681476	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:3681476A>T	uc001lye.1	+	2	828	c.727A>T	c.(727-729)Atc>Ttc	p.I243F	ART1_uc009yeb.1_Missense_Mutation_p.I243F	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGAGGTGCTGATCCCCCCCTT	0.607												
KIF18A	81930	broad.mit.edu	37	11	28058009	28058009	+	Silent	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:28058009C>T	uc001msc.2	-	13	2333	c.2151G>A	c.(2149-2151)ccG>ccA	p.P717P		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	717					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.N716Y(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTACTGTAGACGGATTTTGAA	0.363												
AHNAK	79026	broad.mit.edu	37	11	62298733	62298733	+	Silent	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:62298733G>A	uc001ntl.3	-	4	3456	c.3156C>T	c.(3154-3156)ggC>ggT	p.G1052G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1052					nervous system development	nucleus	protein binding	p.K1051K(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTCGGGCCTTTCAACT	0.443												
NUDT22	84304	broad.mit.edu	37	11	63997583	63997583	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:63997583A>C	uc001nyr.1	-	0	1178	c.746T>G	c.(745-747)gTt>gGt	p.V249G	DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_5'Flank					Homo sapiens cDNA FLJ34477 fis, clone HLUNG2003833.																		AAAAAAAAAAACCCGCCCAGC	0.532												
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:123811134G>A	uc001pzk.1	+	0	811	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493												
KCNC2	3747	broad.mit.edu	37	12	75601564	75601564	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr12:75601564G>A	uc001sxg.1	-	1	744	c.200C>T	c.(199-201)gCg>gTg	p.A67V	KCNC2_uc009zry.3_Missense_Mutation_p.A67V|KCNC2_uc001sxe.3_Missense_Mutation_p.A67V|KCNC2_uc001sxf.3_Missense_Mutation_p.A67V|KCNC2_uc010stw.1_Missense_Mutation_p.A67V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	67	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						cagcgggggcgctctcggcgg	0.771												
MYCBP2	23077	broad.mit.edu	37	13	77835447	77835447	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr13:77835447A>G	uc021rks.1	-	11	1978	c.1711T>C	c.(1711-1713)Tgg>Cgg	p.W571R	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTCAACCCATTTTCCTGCT	0.378												
AKAP6	9472	broad.mit.edu	37	14	33290671	33290671	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:33290671G>C	uc001wrq.3	+	12	3822	c.3652G>C	c.(3652-3654)Gaa>Caa	p.E1218Q		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1218					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGATGCCCTGGAATGGGATGA	0.393												
SMEK1	55671	broad.mit.edu	37	14	91937214	91937214	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:91937214G>C	uc001xzn.3	-	9	2449	c.1627C>G	c.(1627-1629)Ctt>Gtt	p.L543V	SMEK1_uc001xzm.3_Missense_Mutation_p.L530V|SMEK1_uc001xzo.3_Missense_Mutation_p.L530V|SMEK1_uc010atz.3_Missense_Mutation_p.L304V|SMEK1_uc001xzp.1_Non-coding_Transcript	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	543						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GAGGCCATAAGAACTAGCACT	0.353												
TRPM1	4308	broad.mit.edu	37	15	31294188	31294188	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:31294188G>T	uc021sia.1	-	26	5080	c.4766C>A	c.(4765-4767)tCa>tAa	p.S1589*	TRPM1_uc010azy.3_Nonsense_Mutation_p.S1457*|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Nonsense_Mutation_p.S1572*|TRPM1_uc001zfm.3_Nonsense_Mutation_p.S1550*	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1550					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TAAACTTTTTGACCTGAGAGA	0.428												
SPTBN5	51332	broad.mit.edu	37	15	42178160	42178160	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:42178160G>C	uc001zos.3	-	6	1521	c.1188C>G	c.(1186-1188)ttC>ttG	p.F396L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	431					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTTGTGCTGGAAGCGCCGGG	0.667												
OR1F1	4992	broad.mit.edu	37	16	3254556	3254556	+	Missense_Mutation	SNP	G	G	A	rs141236935		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:3254556G>A	uc010uwu.2	+	0	310	c.310G>A	c.(310-312)Gtt>Att	p.V104I		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATGTATTTCGTTTTCATGTT	0.498												
ZNF500	26048	broad.mit.edu	37	16	4810588	4810588	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:4810588A>C	uc002cxp.1	-	5	911	c.664_splice	c.e5-1	p.V222_splice	ZNF500_uc002cxo.1_Splice_Site_p.V14_splice|ZNF500_uc010uxt.1_Splice_Site_p.V222_splice	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V222G(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GTTCACGGGCACCTGCCAGAA	0.637												
CIITA	4261	broad.mit.edu	37	16	10992859	10992859	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:10992859C>T	uc002daj.4	+	5	572	c.439_splice	c.e5+1	p.P147_splice	CIITA_uc002dai.4_Splice_Site_p.P146_splice|CIITA_uc002dak.4_Splice_Site_p.P146_splice|CIITA_uc002dag.2_Splice_Site_p.P146_splice|CIITA_uc002dah.2_Splice_Site_p.P147_splice|CIITA_uc010bup.1_Splice_Site_p.P146_splice	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	146					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAGAAAAGACGTGAGTGAGC	0.512			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """							
GTF3C1	2975	broad.mit.edu	37	16	27483187	27483187	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:27483187C>G	uc002dov.2	-	29	4448	c.4408G>C	c.(4408-4410)Gag>Cag	p.E1470Q	GTF3C1_uc002dou.3_Missense_Mutation_p.E1470Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1470						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCTGGCACTCCATGAAGGCC	0.617												
CHD9	80205	broad.mit.edu	37	16	53190481	53190481	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:53190481T>A	uc002ehb.3	+	0	644	c.480T>A	c.(478-480)caT>caA	p.H160Q	CHD9_uc002egy.3_Missense_Mutation_p.H160Q|CHD9_uc002egz.1_Missense_Mutation_p.H160Q|CHD9_uc002ehc.3_Missense_Mutation_p.H160Q	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	160					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGCACACCATGACTTTGCCT	0.388												
CTU2	348180	broad.mit.edu	37	16	88779258	88779258	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:88779258C>A	uc010chz.3	+	6	943	c.895C>A	c.(895-897)Ctg>Atg	p.L299M	CTU2_uc002flm.3_Missense_Mutation_p.L228M|CTU2_uc002fln.3_Missense_Mutation_p.L228M|CTU2_uc010cia.3_Missense_Mutation_p.L141M	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.	228					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTTCCCAACTGTTCTGCTC	0.677												
ITGB4	3691	broad.mit.edu	37	17	73733432	73733432	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr17:73733432C>T	uc002jpg.3	+	16	2207	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	ITGB4_uc002jph.3_Missense_Mutation_p.R674W|ITGB4_uc010dgo.3_Missense_Mutation_p.R674W|ITGB4_uc002jpi.4_Missense_Mutation_p.R674W|ITGB4_uc010dgp.1_Missense_Mutation_p.R674W|ITGB4_uc002jpj.3_Missense_Mutation_p.R674W	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	674				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345).	cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCTCCTTCCGGGACGAGGA	0.652												
BCL2	596	broad.mit.edu	37	18	60985794	60985796	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr18:60985794_60985796delCCA	uc002lit.1	-	1	597_599	c.104_106delTGG	c.(103-108)gtgggc>ggc	p.V35del	BCL2_uc002liu.1_In_Frame_Del_p.V35del|BCL2_uc002liv.1_In_Frame_Del_p.V35del|BCL2_uc021ulf.1_In_Frame_Del_p.V35del	NM_000633	NP_000624	P10415	BCL2_HUMAN	Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	35		Cleavage; by caspase-3.			activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	p.V35M(1)|p.D34G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ggcgcggcgcccACATCTCCCGC	0.680			T	IGH@	"""NHL, CLL"""							
C3	718	broad.mit.edu	37	19	6714208	6714208	+	Silent	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:6714208G>C	uc002mfm.3	-	5	713	c.651C>G	c.(649-651)gtC>gtG	p.V217V		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	217					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGTGGAGAAGACCTGCTGTG	0.632												
MUC16	94025	broad.mit.edu	37	19	9072189	9072189	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:9072189C>T	uc002mkp.3	-	2	15461	c.15257G>A	c.(15256-15258)cGc>cAc	p.R5086H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5088	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R5086L(3)|p.R719L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTTCCAAGCGTGTACGTAA	0.433												
ZNF844	284391	broad.mit.edu	37	19	12187210	12187210	+	Silent	SNP	A	A	G	rs6511764	by1000genomes	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:12187210A>G	uc002mtb.2	+	3	1418	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_uc010dym.1_Silent_p.V268V	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428												
ZNF813	126017	broad.mit.edu	37	19	53995161	53995161	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:53995161G>A	uc021uzf.1	+	0					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.V559I	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGTGGCAAGGTTTTTAATCA	0.363												
MYT1L	23040	broad.mit.edu	37	2	1812887	1812887	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:1812887C>T	uc002qxe.3	-	21	3960	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R	MYT1L_uc002qxd.3_Missense_Mutation_p.G1043R|MYT1L_uc010ewk.3_Missense_Mutation_p.G41R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1045					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCTGCTCTCCAGAAAGCTTT	0.592												
LCT	3938	broad.mit.edu	37	2	136570155	136570155	+	Silent	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:136570155G>A	uc002tuu.1	-	6	2090	c.2079C>T	c.(2077-2079)aaC>aaT	p.N693N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	693	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTGTGGGGCGTTGCTGATGA	0.547												
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr20:61596986G>A	uc002yea.4	+	9	1154	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_uc002ydz.4_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	324					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.V324I(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652												
RGL4	266747	broad.mit.edu	37	22	24040417	24040417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:24040417G>T	uc002zxo.3	+	9	2536	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Nonsense_Mutation_p.E427*|RGL4_uc002zxp.1_Nonsense_Mutation_p.E291*|RGL4_uc002zxq.3_Nonsense_Mutation_p.E291*			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	427	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AGTTCTGCAGGAAATGCAGCT	0.547												
CHEK2	11200	broad.mit.edu	37	22	29130518	29130518	+	Silent	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:29130518C>T	uc003adu.1	-	1	264	c.192G>A	c.(190-192)gaG>gaA	p.E64E	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Silent_p.E64E|CHEK2_uc010gvi.1_Silent_p.E64E|CHEK2_uc003adt.1_Silent_p.E64E|CHEK2_uc003adv.1_Silent_p.E64E|CHEK2_uc003adx.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	64			E -> K (in prostate cancer; somatic mutation).		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGGACACTGTCTCTAAGGAGC	0.567			F			breast		Direct reversal of damage;Other conserved DNA damage response genes				
SBF1	6305	broad.mit.edu	37	22	50901747	50901747	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:50901747C>G	uc003blh.3	-	15	2059	c.1864G>C	c.(1864-1866)Gac>Cac	p.D622H	SBF1_uc011arx.2_Missense_Mutation_p.D286H|SBF1_uc003bli.2_Missense_Mutation_p.D623H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	622					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGACAAAGTCAAACTGCTGG	0.632												
OR5K4	403278	broad.mit.edu	37	3	98072858	98072858	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:98072858G>A	uc011bgv.2	+	0	161	c.161G>A	c.(160-162)cGt>cAt	p.R54H		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTAGAGCGTCGTCTTCTCACA	0.473												
FSTL1	11167	broad.mit.edu	37	3	120122088	120122088	+	Splice_Site	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:120122088C>T	uc003eds.3	-	8	869	c.694_splice	c.e8+1	p.K232_splice	FSTL1_uc011bjh.2_Splice_Site_p.K197_splice	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	232					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GTTAGGCATACTCTTCTCAGG	0.443												
CSN1S1	1446	broad.mit.edu	37	4	70810645	70810645	+	Silent	SNP	T	T	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:70810645T>C	uc003hep.1	+	14	529	c.480T>C	c.(478-480)ccT>ccC	p.P160P	CSN1S1_uc003heq.1_Silent_p.P151P|CSN1S1_uc003her.1_Silent_p.P152P	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	160						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						AGTATGTTCCTTTCCCACCGT	0.403												
SEC31A	22872	broad.mit.edu	37	4	83785658	83785658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:83785658G>A	uc003hnh.3	-	10	1471	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	SEC31A_uc003hne.3_Nonsense_Mutation_p.Q203*|SEC31A_uc011ccl.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnl.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hng.3_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccm.2_Nonsense_Mutation_p.Q426*|SEC31A_uc003hni.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnk.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnf.3_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccn.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnm.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnn.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hno.3_Nonsense_Mutation_p.Q431*	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	431	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTACAACCTGACTAATGAAC	0.438												
HSP90AB3P	3327	broad.mit.edu	37	4	88813583	88813583	+	Missense_Mutation	SNP	G	G	A	rs3828551	by1000genomes	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:88813583G>A	uc010iko.1	+	1	527	c.527G>A	c.(526-528)cGg>cAg	p.R176Q						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GAAGAGAGGCGGGTCAAAGAA	0.448												
MAST4	375449	broad.mit.edu	37	5	66416900	66416900	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:66416900C>T	uc021xzk.1	+	13	2023	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	MAST4_uc003jut.2_Missense_Mutation_p.T383M|MAST4_uc003juu.1_Missense_Mutation_p.T393M|MAST4_uc011cra.1_Missense_Mutation_p.T366M|MAST4_uc003juv.2_Missense_Mutation_p.T378M|MAST4_uc003juw.3_Missense_Mutation_p.T378M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	575						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATTTTGAAACGATTAAATTG	0.328												
GPR98	84059	broad.mit.edu	37	5	89981650	89981650	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:89981650A>G	uc003kju.3	+	28	6424	c.6328A>G	c.(6328-6330)Atc>Gtc	p.I2110V	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2110					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCAACTAATTATCATTGCCAA	0.413												
PCDHB3	56132	broad.mit.edu	37	5	140481632	140481632	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140481632G>A	uc003lio.3	+	0	1399	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	467	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P466H(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.622												
PCDHB13	56123	broad.mit.edu	37	5	140595599	140595599	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140595599C>T	uc003lja.1	+	0	2091	c.1904C>T	c.(1903-1905)gCg>gTg	p.A635V		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	635	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGCGACGCGGCCAAGCAC	0.692												
SNX9	51429	broad.mit.edu	37	6	158342573	158342573	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr6:158342573A>T	uc003qqv.1	+	9	1133	c.960A>T	c.(958-960)gaA>gaT	p.E320D		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	320	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GCCGCTTTGAAGAGGAATTTA	0.423												
FTSJ2	29960	broad.mit.edu	37	7	2281798	2281798	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:2281798C>T	uc003slm.3	-	1	37	c.8_splice	c.e1+1	p.G3_splice	FTSJ2_uc003sln.3_Splice_Site|FTSJ2_uc003slo.3_Splice_Site|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank|NUDT1_uc003slu.1_5'Flank|NUDT1_uc003slv.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	3					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCAGCTCACCCCGCCATTGGT	0.736												
COL28A1	340267	broad.mit.edu	37	7	7412882	7412882	+	Silent	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:7412882G>A	uc003src.1	-	31	2772	c.2655C>T	c.(2653-2655)aaC>aaT	p.N885N	COL28A1_uc011jxe.1_Silent_p.N568N	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	885	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CAAACATGTCGTTGGCTGCTT	0.488												
ABCB1	5243	broad.mit.edu	37	7	87190619	87190619	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:87190619T>A	uc003uiz.2	-	8	1280	c.787A>T	c.(787-789)Act>Tct	p.T263S	ABCB1_uc011khc.2_Missense_Mutation_p.T199S	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	263	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCAATCACAGTTCTAATTGCT	0.343												
DLD	1738	broad.mit.edu	37	7	107557761	107557761	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:107557761C>T	uc003vet.3	+	10	1200	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	DLD_uc011kmg.2_Missense_Mutation_p.H316Y|DLD_uc011kmh.2_Missense_Mutation_p.H341Y|DLD_uc011kmi.2_Missense_Mutation_p.H265Y	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	364					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AATGCTGGCTCACAAAGCAGA	0.428												
TFEC	22797	broad.mit.edu	37	7	115582025	115582025	+	Silent	SNP	T	T	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:115582025T>C	uc003vhj.2	-	6	838	c.585A>G	c.(583-585)gaA>gaG	p.E195E	TFEC_uc003vhm.2_Silent_p.E128E|TFEC_uc003vhk.2_Silent_p.E166E|TFEC_uc003vhl.4_Silent_p.E166E|TFEC_uc011kmw.2_Silent_p.E285E	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCTCTGTTGTTCTTTTTGTA	0.408												
MYOM2	9172	broad.mit.edu	37	8	2092880	2092880	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:2092880C>T	uc003wpx.4	+	36	4511	c.4373C>T	c.(4372-4374)gCg>gTg	p.A1458V	MYOM2_uc011kwi.2_Missense_Mutation_p.A883V	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1458					muscle contraction	myosin filament	structural constituent of muscle	p.P1457P(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCATCCCCGCGTCTGCCTCA	0.587												
RB1CC1	9821	broad.mit.edu	37	8	53573548	53573548	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:53573548T>C	uc003xre.4	-	10	2123	c.1565A>G	c.(1564-1566)aAa>aGa	p.K522R	RB1CC1_uc003xrf.4_Missense_Mutation_p.K522R	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	522					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.K522K(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTTTCCATCTTTGACTAAAGC	0.284												
C8orf34	116328	broad.mit.edu	37	8	69381052	69381052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:69381052C>T	uc010lyz.3	+	3	1024	c.733C>T	c.(733-735)Cga>Tga	p.R245*	C8orf34_uc010lyy.2_Nonsense_Mutation_p.R245*|C8orf34_uc003xyb.3_Nonsense_Mutation_p.R134*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	159					signal transduction		cAMP-dependent protein kinase regulator activity	p.E245Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GAATCTCTCTCGAAGTAAGTT	0.393												
FAM135B	51059	broad.mit.edu	37	8	139164211	139164211	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:139164211G>C	uc003yuy.3	-	12	2678	c.2507C>G	c.(2506-2508)gCt>gGt	p.A836G	FAM135B_uc003yux.3_Missense_Mutation_p.A737G|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.A398G|FAM135B_uc003yvb.3_Missense_Mutation_p.A398G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	836										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGGTTGTCAGCATCTAAAAC	0.522										HNSCC(54;0.14)		
FAM120A	23196	broad.mit.edu	37	9	96294445	96294445	+	Silent	SNP	C	C	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:96294445C>A	uc004atw.3	+	9	1768	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	FAM120A_uc004atx.3_Silent_p.I363I|FAM120A_uc004aty.3_Silent_p.I362I|FAM120A_uc004atz.3_Silent_p.I230I|FAM120A_uc010mrg.3_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	581						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGGTGAAATCAAAATTGCTG	0.393												
QRFP	347148	broad.mit.edu	37	9	133768879	133768879	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:133768879G>A	uc011mcb.2	-	0	347	c.347C>T	c.(346-348)gCt>gTt	p.A116V		NM_198180	NP_937823	P83859	OX26_HUMAN	Homo sapiens pyroglutamylated RFamide peptide (QRFP), mRNA.	116					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding			cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		GAGCTCCTCAGCCAGGTTCCC	0.632												
MXRA5	25878	broad.mit.edu	37	X	3239887	3239887	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:3239887C>T	uc004crg.4	-	4	3996	c.3839G>A	c.(3838-3840)aGa>aAa	p.R1280K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1280						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAACAGTTCTAGGCAAAAG	0.408												
ZXDB	158586	broad.mit.edu	37	X	57619132	57619132	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:57619132T>A	uc004dvd.3	+	0	864	c.651T>A	c.(649-651)caT>caA	p.H217Q		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.H217Q(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GGTTCCCGCATGCCGCGCACC	0.746												
CHM	1121	broad.mit.edu	37	X	85218739	85218739	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:85218739C>A	uc004eet.3	-	4	663	c.633G>T	c.(631-633)aaG>aaT	p.K211N	CHM_uc011mqz.2_Missense_Mutation_p.K63N	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	211					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTCTGTTTTTCTTTGGTTGCT	0.333												
PCDH11X	27328	broad.mit.edu	37	X	91090731	91090731	+	Silent	SNP	A	A	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:91090731A>T	uc004efk.2	+	0	1073	c.228A>T	c.(226-228)cgA>cgT	p.R76R	PCDH11X_uc004efl.2_Silent_p.R76R|PCDH11X_uc010nmv.2_Silent_p.R76R|PCDH11X_uc004efm.2_Silent_p.R76R|PCDH11X_uc004efn.2_Silent_p.R76R|PCDH11X_uc004efo.2_Silent_p.R76R|PCDH11X_uc004efh.2_Silent_p.R76R|PCDH11X_uc004efj.1_Silent_p.R76R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						CACTGATTCGAATTGAAGAGG	0.443