Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCDC30	728621	broad.mit.edu	37	1	43032078	43032078	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:43032078C>T	uc009vwk.1	+	6	897	c.787C>T	c.(787-789)CGA>TGA	p.R263*	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Nonsense_Mutation_p.R52*|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Nonsense_Mutation_p.R77*	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	263	Potential.										0						AAATGAGCTTCGATATGAACG	0.408000													33	56					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115401230	115401230	+	Silent	SNP	A	G	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:115401230A>G	uc001efr.2	+	6	563	c.354A>G	c.(352-354)AAA>AAG	p.K118K	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.K118K|SYCP1_uc009wgw.2_Silent_p.K118K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	118	Nuclear localization signal (Potential).|Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATAAAAAAATGGAAAGTAA	0.328000													15	59					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144921942	144921942	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:144921942G>A	uc001elw.3	-	9	1378	c.1087C>T	c.(1087-1089)CGA>TGA	p.R363*	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.R429*|PDE4DIP_uc001emc.1_Nonsense_Mutation_p.R363*|PDE4DIP_uc001emd.1_Nonsense_Mutation_p.R363*|PDE4DIP_uc001emb.1_Nonsense_Mutation_p.R526*|PDE4DIP_uc001eme.1_Translation_Start_Site|PDE4DIP_uc001emf.1_Nonsense_Mutation_p.R150*	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	363	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTTTCTGTCGTACCACCCTC	0.488000			T	PDGFRB	MPD								96	376					0	0	1	0	0
H3F3A	3020	broad.mit.edu	37	1	226252155	226252155	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:226252155G>A	uc001hpw.2	+	2	218	c.103G>A	c.(103-105)GGG>AGG	p.G35R	H3F3A_uc010pvl.1_Missense_Mutation_p.G35R	NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	35					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding				0	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTCTACTGGAGGGGTGAAGAA	0.458000											OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	21					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527130	6527130	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:6527130C>T	uc001ijj.1	-	10	1077	c.1002G>A	c.(1000-1002)CCG>CCA	p.P334P	PRKCQ_uc009xim.1_Silent_p.P334P|PRKCQ_uc001iji.1_Silent_p.P367P|PRKCQ_uc009xin.1_Silent_p.P298P|PRKCQ_uc010qax.1_Silent_p.P209P	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	334					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						TTCCCGGTGTCGGTAAACATG	0.443000													6	193					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13825006	13825006	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:13825006C>T	uc001ims.2	-	6	652	c.300G>A	c.(298-300)AGG>AGA	p.R100R	FRMD4A_uc009xjf.1_Silent_p.R100R|FRMD4A_uc001imt.1_Silent_p.R133R|FRMD4A_uc001imu.1_Silent_p.R116R	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	100	FERM.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						CTATATAGAACCTGAAAGAGA	0.428000													37	55					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116060060	116060060	+	Missense_Mutation	SNP	G	A	A	rs144011687	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:116060060G>A	uc001lbn.2	-	15	2151	c.1850C>T	c.(1849-1851)ACG>ATG	p.T617M	AFAP1L2_uc001lbo.2_Missense_Mutation_p.T617M|AFAP1L2_uc010qse.1_Missense_Mutation_p.T670M|AFAP1L2_uc001lbp.2_Missense_Mutation_p.T645M|AFAP1L2_uc001lbr.1_Missense_Mutation_p.T616M|AFAP1L2_uc001lbm.2_Missense_Mutation_p.T56M|AFAP1L2_uc010qsd.1_Missense_Mutation_p.T183M|AFAP1L2_uc001lbq.1_Missense_Mutation_p.T139M	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	617					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGCTGTTCCGTCTGGATTTT	0.607000													15	148					0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118374340	118374340	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:118374340C>T	uc001pta.2	+	27	7747	c.7724C>T	c.(7723-7725)CCC>CTC	p.P2575L	MLL_uc001ptb.2_Missense_Mutation_p.P2578L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2575					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAACCAAGCCCCAATAATACC	0.473000			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								11	56					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294595	124294595	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124294595G>A	uc010sak.1	-	1	173	c.173C>T	c.(172-174)CCC>CTC	p.P58L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAAGTACATGGGGGTGTGAAG	0.413000													27	50					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	C	C	rs113451248		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124857495A>C	uc001qbm.3	+	8	1632	c.1373A>C	c.(1372-1374)CAC>CCC	p.H458P		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000													5	101					0	0	1	0	0
LOC642846	642846	broad.mit.edu	37	12	9453702	9453702	+	RNA	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:9453702C>T	uc010sgp.1	+	10		c.1341C>T			LOC642846_uc001qvp.2_RNA	NR_024374				Homo sapiens cDNA FLJ60280 complete cds, highly similar to Probable ATP-dependent RNA helicase DDX11 (EC 3.6.1.-).												0						GGTGGTGCTGCCCTATCAGAT	0.662000													3	4					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110845	81110845	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:81110845G>A	uc001szg.2	+	1	138	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	1					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						TCAGCAGGATGGACGTGATGG	0.642000													28	49					0	0	1	0	0
LOC284232	284232	broad.mit.edu	37	13	19415677	19415677	+	RNA	SNP	A	T	T	rs142136612	by1000genomes	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:19415677A>T	uc010tcj.1	-	1		c.30433T>A				NR_027995				Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.												0						AACACACTGCAATAGGCTTAC	0.239000													4	50					0	0	1	0	0
LOC374491	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	G	G	rs3874227	by1000genomes	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:25161397C>G	uc001upm.2	+	8		c.921C>G			LOC374491_uc001upn.2_RNA|LOC374491_uc001upo.2_RNA					Homo sapiens mRNA; cDNA DKFZp434J0717 (from clone DKFZp434J0717).												0						TGAAACATCTCTACAACTGGA	0.343000													4	41					0	0	1	0	0
LOC374491	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	A	A	rs1851732	by1000genomes	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:25161457G>A	uc001upm.2	+	8		c.981G>A			LOC374491_uc001upn.2_RNA|LOC374491_uc001upo.2_RNA					Homo sapiens mRNA; cDNA DKFZp434J0717 (from clone DKFZp434J0717).												0						TTATTTATTCGATTCGTGGTA	0.378000													4	22					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986933	61986933	+	Silent	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:61986933G>A	uc001vid.3	-	2	1663	c.1299C>T	c.(1297-1299)AAC>AAT	p.N433N	PCDH20_uc010thj.1_Silent_p.N433N	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	406	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATCTATCTCGTTTGCTATGT	0.418000													22	86					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862627	23862627	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:23862627T>C	uc001wjv.2	-	23	3096	c.3029A>G	c.(3028-3030)GAT>GGT	p.D1010G		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1010	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGAAGGTCATCCAGGGCCTG	0.512000													56	53					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421333	105421333	+	Silent	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:105421333G>A	uc010axc.1	-	6	732	c.612C>T	c.(610-612)TCC>TCT	p.S204S	AHNAK2_uc001ypx.2_Silent_p.S104S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	204						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATCGCTGGAAGCCCACT	0.582000													3	24					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71300791	71300791	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr15:71300791G>A	uc002asw.2	+	12	1490	c.1243G>A	c.(1243-1245)GGG>AGG	p.G415R	LRRC49_uc002asu.2_Missense_Mutation_p.G405R|LRRC49_uc002asx.2_Missense_Mutation_p.G371R|LRRC49_uc010ukf.1_Missense_Mutation_p.G420R|LRRC49_uc002asy.2_Missense_Mutation_p.G121R|LRRC49_uc002asz.2_Missense_Mutation_p.G387R	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	415						cytoplasm|microtubule				ovary(1)	1						TGAAGTGGACGGGGATACACT	0.418000													3	61					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785796	11785796	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:11785796G>A	uc010buu.1	-	9	1393	c.1331C>T	c.(1330-1332)ACG>ATG	p.T444M	TXNDC11_uc002dbg.1_Missense_Mutation_p.T417M	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	444					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						CGCTGTGATCGTTGGCGGGTC	0.642000													16	25					0	0	1	0	0
Unknown	0	broad.mit.edu	37	16	15023271	15023271	+	Silent	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:15023271G>A	uc010uzk.1	+	6	1116	c.840G>A	c.(838-840)ACG>ACA	p.T280T	NPIP_uc002dcx.3_RNA					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		AGCCCCTGACGCTGGCGGGTG	0.697000													4	13					0	0	1	0	0
Unknown	0	broad.mit.edu	37	16	15023280	15023280	+	Splice_Site	SNP	T	C	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:15023280T>C	uc010uzk.1	+	6	1123	c.847_splice	c.e6+2	p.G283_splice	NPIP_uc002dcx.3_Splice_Site					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGCTGGCGGGTGAGGAGATCG	0.701000													3	13					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	A	A	rs121912651		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7577539G>A	uc002gim.2	-	7	936	c.742C>T	c.(742-744)CGG>TGG	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	51					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579314	7579314	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7579314T>G	uc002gim.2	-	4	567	c.373A>C	c.(373-375)ACG>CCG	p.T125P	TP53_uc002gig.1_Missense_Mutation_p.T125P|TP53_uc002gih.2_Missense_Mutation_p.T125P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.T125P|TP53_uc010cni.1_Missense_Mutation_p.T125P|TP53_uc002gij.2_Missense_Mutation_p.T125P|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.T86P|TP53_uc010cnk.1_Missense_Mutation_p.T140P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	125	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.G59fs*23(3)|p.T125R(3)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAACTGACCGTGCAAGTCACA	0.547000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			39	43					0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2039675	2039675	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:2039675C>T	uc002lus.2	-	14	1580	c.1335G>A	c.(1333-1335)GCG>GCA	p.A445A	MKNK2_uc002luq.1_Intron|MKNK2_uc010xgu.1_Silent_p.A284A|MKNK2_uc010xgv.1_Silent_p.A314A|MKNK2_uc002lur.2_Intron|MKNK2_uc002lut.1_3'UTR	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	445					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCCGCTGCGCCAGCTTGG	0.692000													3	45					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550923	4550923	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:4550923A>G	uc010duc.1	-	10	1047	c.1009T>C	c.(1009-1011)TGC>CGC	p.C337R	SEMA6B_uc010dud.2_Missense_Mutation_p.C337R|SEMA6B_uc010xih.1_Missense_Mutation_p.C337R	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	337	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAGGCGCAGACAGCCGAG	0.627000													3	94					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10250948	10250948	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:10250948G>A	uc002mng.2	-	32	3712	c.3532C>T	c.(3532-3534)CGG>TGG	p.R1178W	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.R102W|DNMT1_uc010xlc.1_Missense_Mutation_p.R1194W|DNMT1_uc002mnh.2_Missense_Mutation_p.R1073W|DNMT1_uc010xld.1_Missense_Mutation_p.R1178W	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1178	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGTTCAGCCGGAACGCCTGG	0.612000													3	76					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743590	17743590	+	Splice_Site	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:17743590C>T	uc002nhd.2	-	28	3692	c.3692_splice	c.e28+1	p.A1231_splice		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						AGGGGACTTACGCAGGGTACT	0.438000													21	90					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728254	20728254	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:20728254C>G	uc002npa.2	-	4	935	c.755G>C	c.(754-756)AGT>ACT	p.S252T		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	252					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TTTCTCTCCACTATGAATTAT	0.403000													3	29					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39039015	39039015	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:39039015C>T	uc002oit.2	+	89	12367	c.12237C>T	c.(12235-12237)TAC>TAT	p.Y4079Y	RYR1_uc002oiu.2_Silent_p.Y4074Y|RYR1_uc002oiv.1_Silent_p.Y988Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4079					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAGGACTACGTAACGGATC	0.493000													34	60					0	0	1	0	0
UCN	7349	broad.mit.edu	37	2	27530455	27530455	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:27530455C>T	uc002rjp.1	-	2	425	c.309G>A	c.(307-309)GCG>GCA	p.A103A		NM_003353	NP_003344	P55089	UCN1_HUMAN	urocortin preproprotein	103						extracellular region	neuropeptide hormone activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCGTCCGCGCCAGCTCCA	0.657000													11	39					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102818122	102818122	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:102818122T>G	uc002tbs.2	+	5	722	c.596T>G	c.(595-597)CTG>CGG	p.L199R	IL1RL2_uc002tbt.2_Missense_Mutation_p.L82R	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	199	Extracellular (Potential).|Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2						CAAGCCATACTGACACACTCA	0.478000													25	26					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109547447	109547447	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:109547447C>T	uc002teq.3	-	2	455	c.24G>A	c.(22-24)ACG>ACA	p.T8T	EDAR_uc010fjn.2_Silent_p.T8T|EDAR_uc010yws.1_Silent_p.T8T	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	8					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						AGGGCGTCTGCGTGCAGTCCC	0.582000													30	87					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192922465	192922465	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:192922465G>T	uc002utc.2	-	5	870	c.476C>A	c.(475-477)ACA>AAA	p.T159K		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	159	Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACAGGTGGATGTCTCCTTTTG	0.388000													32	91					7.53189e-24	7.77486e-24	1	1	0
NSFL1C	55968	broad.mit.edu	37	20	1445045	1445045	+	Silent	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:1445045G>A	uc002wfc.2	-	2	1080	c.132C>T	c.(130-132)GAC>GAT	p.D44D	NSFL1C_uc002wfd.2_Intron|NSFL1C_uc002wfe.2_Silent_p.D44D|NSFL1C_uc002wff.2_RNA	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	44						chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						CATCCCCTCCGTCCTCATAAA	0.522000													12	165					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5905694	5905694	+	Silent	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:5905694G>A	uc002wmg.2	+	5	2339	c.2033G>A	c.(2032-2034)TGA>TAA	p.*678*	CHGB_uc010zqz.1_Silent_p.*361*	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	678						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						CAAAGGGGCTGACTGTCATTG	0.438000													23	23					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36952337	36952337	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:36952337C>T	uc002xib.2	+	8	896	c.834C>T	c.(832-834)CCC>CCT	p.P278P		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	278					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				TGGAGTTTCCCGCTGCCCATG	0.537000													34	54					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198916	52198916	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:52198916G>C	uc002xwq.3	-	1	721	c.450C>G	c.(448-450)CAC>CAG	p.H150Q	ZNF217_uc010gij.1_Missense_Mutation_p.H142Q	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	150	C2H2-type 2.				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AAGAATCTTTGTGTGTTCTCA	0.423000													8	158					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42774042	42774042	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:42774042C>T	uc002yzf.1	+	11	1664	c.1560C>T	c.(1558-1560)CTC>CTT	p.L520L	MX2_uc002yzg.1_Silent_p.L243L|MX2_uc010gop.1_Silent_p.L2L	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	520					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTAGCATGCTCCAGAAAGCCA	0.517000													21	67					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46624592	46624592	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:46624592G>A	uc002zgy.2	+	10	2243	c.1808G>A	c.(1807-1809)CGG>CAG	p.R603Q	ADARB1_uc002zgr.2_Missense_Mutation_p.R603Q|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.R563Q|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.R563Q|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	603	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		ATGTACCAGCGGATCTCCAAC	0.522000													37	55					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886219	30886219	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:30886219C>T	uc003aid.2	-	12	1196	c.1096G>A	c.(1096-1098)GAC>AAC	p.D366N	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.D351N|SEC14L4_uc003aif.2_Silent_p.S326S	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592000													27	85					0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38935415	38935415	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:38935415C>T	uc003avz.1	-	9	672	c.497G>A	c.(496-498)CGT>CAT	p.R166H	DMC1_uc011anv.1_Intron	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	166					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					GCGATCTGGACGGCTGGAGTA	0.403000								Homologous_recombination					35	46					0	0	1	0	0
HYAL1	3373	broad.mit.edu	37	3	50337931	50337931	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:50337931G>A	uc003czp.2	-	4	1423	c.1291C>T	c.(1291-1293)CGG>TGG	p.R431W	HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.R249W|HYAL1_uc003czo.2_Missense_Mutation_p.R172W|HYAL1_uc003czq.2_Missense_Mutation_p.R401W|HYAL1_uc003czr.2_Missense_Mutation_p.R431W|HYAL1_uc003czn.2_Missense_Mutation_p.R92W|HYAL1_uc003czs.2_Missense_Mutation_p.R431W|HYAL1_uc003czt.2_3'UTR	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	431						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	ATGCTCTTCCGCTCACACCAC	0.552000													3	106					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887873	97887873	+	Silent	SNP	A	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:97887873A>T	uc011bgu.1	+	1	330	c.330A>T	c.(328-330)ACA>ACT	p.T110T		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCGTAACCACAGAATGTTTTC	0.398000													4	87					0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151055882	151055882	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:151055882G>A	uc003eyw.1	-	2	968	c.752C>T	c.(751-753)CCT>CTT	p.P251L	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.P251L	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	251	Helical; Name=6; (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAAATGGAAAGGAACAAAACA	0.428000													3	34					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799739	38799739	+	Silent	SNP	C	T	T	rs146940675		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:38799739C>T	uc003gtl.2	-	4	988	c.714G>A	c.(712-714)GCG>GCA	p.A238A		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	238	Extracellular (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						TTTGAAGTTTCGCCAGAATAC	0.343000													8	32					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131206	55131206	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55131206C>T	uc003han.3	+	5	1080	c.749C>T	c.(748-750)CCT>CTT	p.P250L	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.P144L|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	250	Ig-like C2-type 3.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGGACTTACCCTGGAGAAGTG	0.299000			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			33	80					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162697149	162697149	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:162697149G>A	uc003iqh.2	-	5	923	c.487C>T	c.(487-489)CAA>TAA	p.Q163*	FSTL5_uc003iqi.2_Nonsense_Mutation_p.Q162*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.Q162*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	163						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATTTTCTTGCATAATATAT	0.308000													12	19					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248540	94248540	+	Silent	SNP	G	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr5:94248540G>T	uc003kkx.2	-	9	1492	c.1492C>A	c.(1492-1494)CGG>AGG	p.R498R	MCTP1_uc003kkv.2_Silent_p.R277R|MCTP1_uc003kkw.2_Silent_p.R231R|MCTP1_uc003kkz.2_Silent_p.R159R|MCTP1_uc003kku.2_Silent_p.R14R	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	498	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCCAAGCCGGAACTTCACG	0.473000													22	72					1.64293e-13	1.66901e-13	1	1	0
T	6862	broad.mit.edu	37	6	166579237	166579237	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr6:166579237G>A	uc003quu.1	-	4	1056	c.563C>T	c.(562-564)CCT>CTT	p.P188L	T_uc003qut.1_Missense_Mutation_p.P188L|T_uc003quv.1_Missense_Mutation_p.P188L	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	188	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTGGGTCTCAGGGAAGCAGTG	0.557000									Chordoma_Familial_Clustering_of				66	296					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75601767	75601767	+	Silent	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:75601767G>A	uc003udy.2	+	3	307	c.225G>A	c.(223-225)AAG>AAA	p.K75K	POR_uc011kgb.1_RNA	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	72					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TTGTGGAAAAGATGAAGAAAA	0.537000											OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21982885	21982885	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:21982885C>T	uc003xas.2	-	5	2354	c.1689G>A	c.(1687-1689)GGG>GGA	p.G563G	HR_uc003xat.2_Silent_p.G563G	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	563							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAGTCGGTCCCCCAAACCAC	0.677000													4	6					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42287600	42287600	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:42287600G>A	uc010lxl.2	-	9	2385	c.1691C>T	c.(1690-1692)ACT>ATT	p.T564I	SLC20A2_uc010lxm.2_Missense_Mutation_p.T564I|SLC20A2_uc003xpe.2_Missense_Mutation_p.T564I|SLC20A2_uc011lcu.1_Missense_Mutation_p.T366I	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	564	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTGATGGGAGTGAGGTCCTT	0.612000													3	64					0	0	1	0	0
RLN1	6013	broad.mit.edu	37	9	5339680	5339680	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:5339680C>G	uc003zjb.1	-	1	194	c.67G>C	c.(67-69)GTC>CTC	p.V23L		NM_006911	NP_008842	P04808	REL1_HUMAN	relaxin 1 preproprotein	23					female pregnancy|signal transduction	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TTGGCCGCGACTGCTCTGGAA	0.517000													6	106					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:20414343A>G	uc003zoe.2	-	5	760	c.501T>C	c.(499-501)AGT>AGC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.139000			T	MLL	ALL								4	15					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35381621	35381621	+	Silent	SNP	C	T	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:35381621C>T	uc003zwq.2	+	19	2605	c.2313C>T	c.(2311-2313)GAC>GAT	p.D771D	UNC13B_uc003zwr.2_Silent_p.D771D	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	771					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCGAGGAGACGATGCCTGGA	0.498000													4	112					0	0	1	0	0
Unknown	0	broad.mit.edu	37	X	51150911	51150911	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:51150911G>A	uc004dpj.2	+	1	1145	c.1043G>A	c.(1042-1044)CGT>CAT	p.R348H		NM_203407	NP_981952			hypothetical protein LOC340602																		CTCCGGAGCCGTTCCACCCAG	0.637000													17	14					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135956319	135956319	+	Silent	SNP	T	C	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:135956319T>C	uc004fae.1	-	9	1368	c.1158A>G	c.(1156-1158)GGA>GGG	p.G386G	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.1_Silent_p.G347G|RBMX_uc004faf.1_Silent_p.G247G|RBMX_uc010nsf.1_Silent_p.G347G|RBMX_uc004fag.1_Silent_p.G258G	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	386						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGCCTCCCCCTCTAT	0.483000													4	76					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156046687	156046689	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:156046687_156046689delGAG	uc001fnd.3	-	2	1239_1241	c.1239_1241delCTC	c.(1237-1242)TCCTCT>TCT	p.413_414SS>S		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	413_414	Poly-Ser.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.640													2	4	---	---	---	---					
MGAT2	4247	broad.mit.edu	37	14	50089217	50089220	+	Frame_Shift_Del	DEL	CTAA	-	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:50089217_50089220delCTAA	uc001wwr.2	+	1	1729_1732	c.1231_1234delCTAA	c.(1231-1236)CTAACTfs	p.L411fs	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	411_412	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGAAACTCTAACTATCAGTGA	0.392													29	47	---	---	---	---					
Unknown	0	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	-	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:18441114_18441116delCAC	uc010bvw.2	-	7	1784	c.1128_splice	c.e7+1	p.V376_splice						SubName: Full=cDNA FLJ59085, highly similar to Polycystin-1;																		CGGCCATACTCACCACTGGGACT	0.709													5	7	---	---	---	---					
SHISA3	152573	broad.mit.edu	37	4	42403175	42403178	+	Frame_Shift_Del	DEL	CAGA	-	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:42403175_42403178delCAGA	uc003gwp.2	+	2	642_645	c.424_427delCAGA	c.(424-429)CAGACAfs	p.Q142fs		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	142_143	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						CCGCAGCTATCAGACAGAGACCCT	0.608													10	519	---	---	---	---					
PDGFRA	5156	broad.mit.edu	37	4	55133717	55133720	+	Splice_Site	DEL	AGAG	-	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55133717_55133720delAGAG	uc003han.3	+	7	1263	c.932_splice	c.e7-1	p.E311_splice	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Splice_Site_p.E205_splice|PDGFRA_uc003ham.2_Splice_Site	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha						cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCCCTGTACAGAGAAAGGTTTCA	0.441			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			22	92	---	---	---	---					
SLC26A4	5172	broad.mit.edu	37	7	107312689	107312692	+	Frame_Shift_Del	DEL	AGTT	-	-	rs111033199		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:107312689_107312692delAGTT	uc003vep.2	+	4	635_638	c.411_414delAGTT	c.(409-414)TCAGTTfs	p.S137fs		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	137_138	Helical; (Potential).		V -> F (in PDS; fails to localize to cell membrane; abolishes iodide transport).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						GACATATCTCAGTTGGTAATTATA	0.304									Pendred_syndrome				14	57	---	---	---	---					
PPP1R16A	84988	broad.mit.edu	37	8	145727173	145727174	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:145727173_145727174insC	uc003zdd.2	+	11	2387_2388	c.1474_1475insC	c.(1474-1476)ACCfs	p.T492fs	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Frame_Shift_Ins_p.T492fs|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	492						plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACACGGTGACCCCCCAGCCT	0.713													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939510	76939511	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:76939510_76939511delAA	uc004ecp.3	-	9	1469_1470	c.1237_1238delTT	c.(1237-1239)TTAfs	p.L413fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.L375fs|ATRX_uc004eco.3_Frame_Shift_Del_p.L198fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.L374fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.L413fs|ATRX_uc010nly.1_Frame_Shift_Del_p.L358fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	413					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CTCGGAATTTAAGTCTTCTTCC	0.361			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						187	6	---	---	---	---					
