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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:11596726G>T	uc001ash.3	+	21	4300	c.4162G>T	c.(4162-4164)GCA>TCA	p.A1388S		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1388	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:161577088C>T	uc010pkp.1	+	1	1240	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F		NR_024151				RecName: Full=Putative heat shock 70 kDa protein 7; AltName: Full=Heat shock 70 kDa protein B;												0						TTCATGACTTCGTCCTGGGGG	0.592												
RYR2	6262	broad.mit.edu	37	1	237948008	237948008	+	Silent	SNP	C	G	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:237948008C>G	uc001hyl.1	+	90	13116	c.12996C>G	c.(12994-12996)GCC>GCG	p.A4332A	RYR2_uc010pya.1_Silent_p.A747A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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	G	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:246027126T>G	uc001ibl.2	-	9	971	c.876A>C	c.(874-876)AAA>AAC	p.K292N	SMYD3_uc001ibk.2_Missense_Mutation_p.K233N|SMYD3_uc001ibi.2_Missense_Mutation_p.K103N|SMYD3_uc001ibj.2_Missense_Mutation_p.K103N	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	292						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	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	0.358												
EGR2	1959	broad.mit.edu	37	10	64574066	64574066	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:64574066C>G	uc010qim.1	-	3	486	c.332G>C	c.(331-333)GGC>GCC	p.G111A	EGR2_uc010qin.1_Missense_Mutation_p.G61A|EGR2_uc001jmi.2_Missense_Mutation_p.G111A|EGR2_uc010qio.1_Missense_Mutation_p.G124A|EGR2_uc009xph.2_Missense_Mutation_p.G111A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	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			ovary(2)	2	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	-	-			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:123683779delA	uc001lfp.2	-	2	252	c.170_splice	c.e2+1	p.R57_splice	ATE1_uc001lfq.2_Splice_Site_p.R57_splice|ATE1_uc010qtr.1_Splice_Site|ATE1_uc010qts.1_Intron|ATE1_uc010qtt.1_Splice_Site_p.R50_splice|ATE1_uc001lfr.2_Splice_Site|ATE1_uc009xzu.2_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2						protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:3681476A>T	uc001lye.1	+	3	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	ADP-ribosyltransferase 1 precursor	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				0		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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:28058009C>T	uc001msc.2	-	14	2333	c.2151G>A	c.(2149-2151)CCG>CCA	p.P717P		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	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			ovary(2)	2						TTACTGTAGACGGATTTTGAA	0.363												
AHNAK	79026	broad.mit.edu	37	11	62298733	62298733	+	Silent	SNP	G	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:62298733G>A	uc001ntl.2	-	5	3456	c.3156C>T	c.(3154-3156)GGC>GGT	p.G1052G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1052					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TAAACTTCGGGCCTTTCAACT	0.443												
Unknown	0	broad.mit.edu	37	11	63997583	63997583	+	Missense_Mutation	SNP	A	C	C	rs11364788		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:63997583A>C	uc001nyr.1	-	1	1178	c.746T>G	c.(745-747)GTT>GGT	p.V249G	DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_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	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:123811134G>A	uc001pzk.1	+	1	811	c.811G>A	c.(811-813)GTC>ATC	p.V271I		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	271	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr12:75601564G>A	uc001sxg.1	-	2	744	c.200C>T	c.(199-201)GCG>GTG	p.A67V	KCNC2_uc009zry.2_Missense_Mutation_p.A67V|KCNC2_uc001sxe.2_Missense_Mutation_p.A67V|KCNC2_uc001sxf.2_Missense_Mutation_p.A67V|KCNC2_uc010stw.1_Missense_Mutation_p.A67V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	67	Gly/Pro-rich (insert).|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						cagcgggggcgctctcggcgg	0.542												
MYCBP2	23077	broad.mit.edu	37	13	77835447	77835447	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr13:77835447A>G	uc001vkf.2	-	13	1688	c.1597T>C	c.(1597-1599)TGG>CGG	p.W533R	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		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	C	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:33290671G>C	uc001wrq.2	+	13	3822	c.3652G>C	c.(3652-3654)GAA>CAA	p.E1218Q		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1218					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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	C	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:91937214G>C	uc001xzn.2	-	10	2449	c.1627C>G	c.(1627-1629)CTT>GTT	p.L543V	SMEK1_uc001xzm.2_Missense_Mutation_p.L530V|SMEK1_uc001xzo.2_Missense_Mutation_p.L530V|SMEK1_uc010atz.2_Missense_Mutation_p.L304V|SMEK1_uc001xzp.1_RNA	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	543						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GAGGCCATAAGAACTAGCACT	0.333												
TRPM1	4308	broad.mit.edu	37	15	31294188	31294188	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:31294188G>T	uc001zfm.2	-	27	4777	c.4649C>A	c.(4648-4650)TCA>TAA	p.S1550*	TRPM1_uc010azy.2_Nonsense_Mutation_p.S1457*|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1550	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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	C	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:42178160G>C	uc001zos.2	-	7	1521	c.1188C>G	c.(1186-1188)TTC>TTG	p.F396L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	431	Spectrin 2.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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	A	A	rs141236935		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:3254556G>A	uc010uwu.1	+	1	310	c.310G>A	c.(310-312)GTT>ATT	p.V104I		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATGTATTTCGTTTTCATGTT	0.498												
ZNF500	26048	broad.mit.edu	37	16	4810588	4810588	+	Missense_Mutation	SNP	A	C	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:4810588A>C	uc002cxp.1	-	5	912	c.665T>G	c.(664-666)GTG>GGG	p.V222G	ZNF500_uc002cxo.1_Missense_Mutation_p.V14G|ZNF500_uc010uxt.1_Missense_Mutation_p.V222G	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						GTTCACGGGCACCTGCCAGAA	0.637												
CIITA	4261	broad.mit.edu	37	16	10992859	10992859	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:10992859C>T	uc002dai.3	+	5	569	c.436C>T	c.(436-438)CCC>TCC	p.P146S	CIITA_uc002daj.3_Missense_Mutation_p.P147S|CIITA_uc002dak.3_Missense_Mutation_p.P146S|CIITA_uc002dag.2_Missense_Mutation_p.P146S|CIITA_uc002dah.2_Missense_Mutation_p.P147S|CIITA_uc010bup.1_Missense_Mutation_p.P146S	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	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)	1						TCAGAAAAGACGTGAGTGAGC	0.512			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
GTF3C1	2975	broad.mit.edu	37	16	27483187	27483187	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:27483187C>G	uc002dov.1	-	30	4448	c.4408G>C	c.(4408-4410)GAG>CAG	p.E1470Q	GTF3C1_uc002dou.2_Missense_Mutation_p.E1470Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1470						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TTCTGGCACTCCATGAAGGCC	0.617												
CHD9	80205	broad.mit.edu	37	16	53190481	53190481	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:53190481T>A	uc002ehb.2	+	1	644	c.480T>A	c.(478-480)CAT>CAA	p.H160Q	CHD9_uc002egy.2_Missense_Mutation_p.H160Q|CHD9_uc002egz.1_Missense_Mutation_p.H160Q|CHD9_uc002eha.1_Missense_Mutation_p.H160Q|CHD9_uc002ehc.2_Missense_Mutation_p.H160Q	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	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			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TGGCACACCATGACTTTGCCT	0.388												
CTU2	348180	broad.mit.edu	37	16	88779258	88779258	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:88779258C>A	uc002flm.2	+	7	730	c.682C>A	c.(682-684)CTG>ATG	p.L228M	CTU2_uc002fln.2_Missense_Mutation_p.L228M|CTU2_uc010chz.2_Missense_Mutation_p.L299M|CTU2_uc010cia.2_Missense_Mutation_p.L141M	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	228					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						TCTTTCCCAACTGTTCTGCTC	0.562												
ITGB4	3691	broad.mit.edu	37	17	73733432	73733432	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr17:73733432C>T	uc002jpg.2	+	17	2207	c.2020C>T	c.(2020-2022)CGG>TGG	p.R674W	ITGB4_uc002jph.2_Missense_Mutation_p.R674W|ITGB4_uc010dgo.2_Missense_Mutation_p.R674W|ITGB4_uc002jpi.3_Missense_Mutation_p.R674W|ITGB4_uc010dgp.1_Missense_Mutation_p.R674W|ITGB4_uc002jpj.2_Missense_Mutation_p.R674W	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	674	Extracellular (Potential).			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			lung(4)	4	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	-	-			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr18:60985794_60985796delCCA	uc002lit.1	-	2	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	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	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			central_nervous_system(1)	1		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	0.532			T	IGH@	NHL|CLL							
C3	718	broad.mit.edu	37	19	6714208	6714208	+	Silent	SNP	G	C	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:6714208G>C	uc002mfm.2	-	6	713	c.651C>G	c.(649-651)GTC>GTG	p.V217V		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	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			skin(3)|ovary(1)|pancreas(1)	5				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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:9072189C>T	uc002mkp.2	-	3	15461	c.15257G>A	c.(15256-15258)CGC>CAC	p.R5086H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5088	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGGTTCCAAGCGTGTACGTAA	0.433												
ZNF844	284391	broad.mit.edu	37	19	12187210	12187210	+	Silent	SNP	A	G	G	rs6511764	by1000genomes	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:12187210A>G	uc002mtb.2	+	4	1418	c.1275A>G	c.(1273-1275)GTA>GTG	p.V425V	ZNF844_uc010dym.1_Silent_p.V268V	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	zinc finger protein 844	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TAAGCAGTGTAGTAAAGCCTT	0.428												
ZNF813	126017	broad.mit.edu	37	19	53995161	53995161	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:53995161G>A	uc002qbu.2	+	4	1803	c.1675G>A	c.(1675-1677)GTT>ATT	p.V559I	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	559	C2H2-type 13.				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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:1812887C>T	uc002qxe.2	-	22	3960	c.3133G>A	c.(3133-3135)GGA>AGA	p.G1045R	MYT1L_uc002qxd.2_Missense_Mutation_p.G1043R|MYT1L_uc010ewk.2_Missense_Mutation_p.G41R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1045					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	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	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:136570155G>A	uc002tuu.1	-	7	2090	c.2079C>T	c.(2077-2079)AAC>AAT	p.N693N		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	693	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTGTGGGGCGTTGCTGATGA	0.547												
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr20:61596986G>A	uc002yea.3	+	10	1154	c.970G>A	c.(970-972)GTC>ATC	p.V324I	SLC17A9_uc002ydz.3_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	324	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity	p.V324I(1)		ovary(1)|skin(1)	2						CCTCTCCAGCGTCTTTGCTCT	0.652												
RGL4	266747	broad.mit.edu	37	22	24040417	24040417	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:24040417G>T	uc002zxn.2	+	10	2449	c.1279G>T	c.(1279-1281)GAA>TAA	p.E427*	LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Nonsense_Mutation_p.E427*|RGL4_uc002zxp.1_Nonsense_Mutation_p.E291*|RGL4_uc002zxq.2_Nonsense_Mutation_p.E291*	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation	427	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			ovary(1)	1						AGTTCTGCAGGAAATGCAGCT	0.547												
CHEK2	11200	broad.mit.edu	37	22	29130518	29130518	+	Silent	SNP	C	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:29130518C>T	uc003adu.1	-	2	264	c.192G>A	c.(190-192)GAG>GAA	p.E64E	CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Silent_p.E64E|CHEK2_uc010gvi.1_Silent_p.E64E|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.E64E|CHEK2_uc003adv.1_Silent_p.E64E|CHEK2_uc003adw.1_Silent_p.E64E|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Silent_p.E64E|CHEK2_uc003adz.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	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)|stomach(1)|ovary(1)|lung(1)	20						TGGACACTGTCTCTAAGGAGC	0.567			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			
SBF1	6305	broad.mit.edu	37	22	50901747	50901747	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:50901747C>G	uc003blh.2	-	16	2059	c.1864G>C	c.(1864-1866)GAC>CAC	p.D622H	SBF1_uc011arx.1_Missense_Mutation_p.D286H|SBF1_uc003bli.2_Missense_Mutation_p.D623H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	622					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:98072858G>A	uc011bgv.1	+	1	161	c.161G>A	c.(160-162)CGT>CAT	p.R54H		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GTAGAGCGTCGTCTTCTCACA	0.473												
FSTL1	11167	broad.mit.edu	37	3	120122088	120122088	+	Splice_Site	SNP	C	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:120122088C>T	uc003eds.2	-	8	869	c.694_splice	c.e8+1	p.K232_splice	FSTL1_uc011bjh.1_Splice_Site_p.K197_splice	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor						BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		GTTAGGCATACTCTTCTCAGG	0.443												
CSN1S1	1446	broad.mit.edu	37	4	70810645	70810645	+	Silent	SNP	T	C	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:70810645T>C	uc003hep.1	+	15	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	casein alpha s1 isoform 1	160						extracellular region	protein binding|transporter activity				0						AGTATGTTCCTTTCCCACCGT	0.403												
SEC31A	22872	broad.mit.edu	37	4	83785658	83785658	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:83785658G>A	uc003hnf.2	-	11	1455	c.1291C>T	c.(1291-1293)CAG>TAG	p.Q431*	SEC31A_uc003hne.2_Nonsense_Mutation_p.Q203*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hng.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hni.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.Q426*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.Q431*|SEC31A_uc003hno.2_Nonsense_Mutation_p.Q431*	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GTTACAACCTGACTAATGAAC	0.438												
Unknown	0	broad.mit.edu	37	4	88813583	88813583	+	Missense_Mutation	SNP	G	A	A	rs3828551	by1000genomes	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:88813583G>A	uc010iko.1	+	2	527	c.527G>A	c.(526-528)CGG>CAG	p.R176Q						SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;																		GAAGAGAGGCGGGTCAAAGAA	0.418												
MAST4	375449	broad.mit.edu	37	5	66416900	66416900	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:66416900C>T	uc003jut.1	+	13	1216	c.1148C>T	c.(1147-1149)ACG>ATG	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.2_Missense_Mutation_p.T378M	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	575	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	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	G	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:89981650A>G	uc003kju.2	+	29	6424	c.6328A>G	c.(6328-6330)ATC>GTC	p.I2110V	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2110	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140481632G>A	uc003lio.2	+	1	1399	c.1399G>A	c.(1399-1401)GCC>ACC	p.A467T	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	467	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140595599C>T	uc003lja.1	+	1	2091	c.1904C>T	c.(1903-1905)GCG>GTG	p.A635V		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	635	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr6:158342573A>T	uc003qqv.1	+	10	1133	c.960A>T	c.(958-960)GAA>GAT	p.E320D		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	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				0		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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:2281798C>T	uc003slm.2	-	1	36	c.7G>A	c.(7-9)GGG>AGG	p.G3R	FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|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	FtsJ homolog 2	3					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		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	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:7412882G>A	uc003src.1	-	32	2772	c.2655C>T	c.(2653-2655)AAC>AAT	p.N885N	COL28A1_uc011jxe.1_Silent_p.N568N	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	885	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		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	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:87190619T>A	uc003uiz.1	-	9	1205	c.787A>T	c.(787-789)ACT>TCT	p.T263S	ABCB1_uc011khc.1_Missense_Mutation_p.T199S	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	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			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:107557761C>T	uc003vet.2	+	11	1200	c.1090C>T	c.(1090-1092)CAC>TAC	p.H364Y	DLD_uc011kmg.1_Missense_Mutation_p.H316Y|DLD_uc011kmh.1_Missense_Mutation_p.H341Y|DLD_uc011kmi.1_Missense_Mutation_p.H265Y	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	364	FAD.				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			central_nervous_system(1)	1					NADH(DB00157)	AATGCTGGCTCACAAAGCAGA	0.428												
TFEC	22797	broad.mit.edu	37	7	115582025	115582025	+	Silent	SNP	T	C	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:115582025T>C	uc003vhj.1	-	7	769	c.585A>G	c.(583-585)GAA>GAG	p.E195E	TFEC_uc003vhk.1_Silent_p.E166E|TFEC_uc003vhl.3_Silent_p.E166E|TFEC_uc011kmw.1_Silent_p.E285E	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			CTCTCTGTTGTTCTTTTTGTA	0.408												
MYOM2	9172	broad.mit.edu	37	8	2092880	2092880	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:2092880C>T	uc003wpx.3	+	37	4511	c.4373C>T	c.(4372-4374)GCG>GTG	p.A1458V	MYOM2_uc011kwi.1_Missense_Mutation_p.A883V	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1458					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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	C	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:53573548T>C	uc003xre.3	-	11	2123	c.1565A>G	c.(1564-1566)AAA>AGA	p.K522R	RB1CC1_uc003xrf.3_Missense_Mutation_p.K522R	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	522					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:69381052C>T	uc010lyz.2	+	4	524	c.475C>T	c.(475-477)CGA>TGA	p.R159*	C8orf34_uc010lyy.1_Nonsense_Mutation_p.R159*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.R134*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	159					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			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	C	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:139164211G>C	uc003yuy.2	-	13	2678	c.2507C>G	c.(2506-2508)GCT>GGT	p.A836G	FAM135B_uc003yux.2_Missense_Mutation_p.A737G|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A398G|FAM135B_uc003yvb.2_Missense_Mutation_p.A398G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	836										ovary(7)|skin(2)	9	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	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:96294445C>A	uc004atw.2	+	10	1768	c.1743C>A	c.(1741-1743)ATC>ATA	p.I581I	FAM120A_uc004atx.2_Silent_p.I363I|FAM120A_uc004aty.2_Silent_p.I362I|FAM120A_uc004atz.2_Silent_p.I230I|FAM120A_uc010mrg.2_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	581						cytoplasm|plasma membrane	RNA binding				0						AGGGTGAAATCAAAATTGCTG	0.393												
QRFP	347148	broad.mit.edu	37	9	133768879	133768879	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:133768879G>A	uc011mcb.1	-	1	347	c.347C>T	c.(346-348)GCT>GTT	p.A116V		NM_198180	NP_937823	P83859	OX26_HUMAN	RF(Arg-Phe)amide family 26 amino acid peptide	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				0	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	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:3239887C>T	uc004crg.3	-	5	3996	c.3839G>A	c.(3838-3840)AGA>AAA	p.R1280K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1280						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		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	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:57619132T>A	uc004dvd.2	+	1	864	c.651T>A	c.(649-651)CAT>CAA	p.H217Q		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						GGTTCCCGCATGCCGCGCACC	0.736												
CHM	1121	broad.mit.edu	37	X	85218739	85218739	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:85218739C>A	uc004eet.2	-	5	663	c.633G>T	c.(631-633)AAG>AAT	p.K211N	CHM_uc011mqz.1_Missense_Mutation_p.K63N	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	211					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				TTCTGTTTTTCTTTGGTTGCT	0.333												
PCDH11X	27328	broad.mit.edu	37	X	91090731	91090731	+	Silent	SNP	A	T	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08									Somatic	Phase_I	Capture				Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:91090731A>T	uc004efk.1	+	1	1073	c.228A>T	c.(226-228)CGA>CGT	p.R76R	PCDH11X_uc004efl.1_Silent_p.R76R|PCDH11X_uc004efo.1_Silent_p.R76R|PCDH11X_uc010nmv.1_Silent_p.R76R|PCDH11X_uc004efm.1_Silent_p.R76R|PCDH11X_uc004efn.1_Silent_p.R76R|PCDH11X_uc004efh.1_Silent_p.R76R|PCDH11X_uc004efj.1_Silent_p.R76R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	76	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CACTGATTCGAATTGAAGAGG	0.443