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
HIVEP3	59269	broad.mit.edu	37	1	41978828	41978828	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:41978828C>T	uc001cgz.3	-	8	7277	c.6064G>A	c.(6064-6066)GGC>AGC	p.G2022S	HIVEP3_uc001cha.3_Missense_Mutation_p.G2022S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	2022					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAGAGCGCCCATGCCCCTT	0.632000													31	38					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325319	158325319	+	Silent	SNP	G	A	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:158325319G>A	uc001fse.2	+	3	824	c.585G>A	c.(583-585)GCG>GCA	p.A195A	CD1E_uc010pid.1_Silent_p.A193A|CD1E_uc010pie.1_Silent_p.A96A|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.A195A|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.A195A|CD1E_uc001fry.2_Silent_p.A195A|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.A195A|CD1E_uc009wsv.2_Silent_p.A96A|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	195	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					GATTTCTAGCGGGGCTCATGG	0.478000													3	31					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570030	248570030	+	Silent	SNP	C	T	T	rs148427102		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:248570030C>T	uc010pzm.1	+	1	735	c.735C>T	c.(733-735)TAC>TAT	p.Y245Y		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	245	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCCTCTACGAGACAGTGA	0.493000													33	45					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345529	28345529	+	Silent	SNP	T	C	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:28345529T>C	uc001iua.1	-	18	1835	c.1431A>G	c.(1429-1431)CTA>CTG	p.L477L	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.L477L|MPP7_uc009xla.2_Silent_p.L477L|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	477	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						GCTTAAATTCTAGTGTCCTTA	0.333000													49	49					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124348622	124348622	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:124348622C>T	uc001lgk.1	+	17	2052	c.1946C>T	c.(1945-1947)ACG>ATG	p.T649M	DMBT1_uc001lgl.1_Missense_Mutation_p.T639M|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.T649M|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	649	SRCR 5.		T -> M.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCTGGGCCACGTCAGCCCCA	0.612000													12	194					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608789	4608789	+	Missense_Mutation	SNP	C	G	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:4608789C>G	uc010qyh.1	+	1	747	c.747C>G	c.(745-747)ATC>ATG	p.I249M		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	249	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCCTATATCTTAATTCTCA	0.488000													64	44					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021019	5021019	+	Silent	SNP	T	C	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:5021019T>C	uc010qyu.1	+	1	807	c.807T>C	c.(805-807)CAT>CAC	p.H269H		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGAAGCATCTGTCTCCCA	0.463000													5	34					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159642	18159642	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:18159642C>T	uc001mnu.2	+	3	1254	c.893C>T	c.(892-894)ACG>ATG	p.T298M		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	298	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CTGCAGGACACGCCTGAGGTG	0.562000													28	11					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510829	56510829	+	Silent	SNP	G	A	A	rs149257582		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:56510829G>A	uc010rjo.1	-	1	459	c.459C>T	c.(457-459)ACC>ACT	p.T153T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TACAGAGGGCGGTGGACATGG	0.478000													13	175					0	0	1	0	0
SH2B3	10019	broad.mit.edu	37	12	111885310	111885310	+	Missense_Mutation	SNP	G	A	A	rs72650673	byFrequency	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr12:111885310G>A	uc001tse.2	+	6	1555	c.1198G>A	c.(1198-1200)GAA>AAA	p.E400K	SH2B3_uc010syf.1_Missense_Mutation_p.E400K|SH2B3_uc001tsf.2_Missense_Mutation_p.E401K|SH2B3_uc010syg.1_Missense_Mutation_p.E198K	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	400	SH2.				blood coagulation	cytosol	signal transducer activity			ovary(1)	1						GCGGCGTGGGGAATACGTGCT	0.532000													5	93					0	0	1	0	0
SDR39U1	56948	broad.mit.edu	37	14	24912008	24912008	+	Splice_Site	SNP	T	C	C	rs17184766	by1000genomes	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:24912008T>C	uc001wpm.2	-	1	1	c.-31_splice	c.e1-1		SDR39U1_uc001wpi.2_5'Flank|SDR39U1_uc001wpj.2_5'Flank|SDR39U1_uc001wpk.2_5'Flank|SDR39U1_uc001wpl.2_5'Flank|SDR39U1_uc001wpn.2_Intron|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,								binding			pancreas(1)	1						TGCGTAAAGTTTAGAGTTTAC	0.582000													7	133					0	0	1	0	0
PTGR2	145482	broad.mit.edu	37	14	74347933	74347933	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:74347933A>G	uc001xow.2	+	8	1037	c.877A>G	c.(877-879)AAA>GAA	p.K293E	PTGR2_uc010tue.1_Missense_Mutation_p.K293E|PTGR2_uc001xox.2_Missense_Mutation_p.K293E|ZNF410_uc001xoy.1_RNA	NM_001146154	NP_001139626	Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	293					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding				0						ATTAAATTATAAAGACAAATT	0.358000													48	55					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467824	74467824	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr15:74467824G>A	uc002axg.1	+	2	907	c.625G>A	c.(625-627)GCC>ACC	p.A209T	ISLR_uc002axh.1_Missense_Mutation_p.A209T	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	209	LRRCT.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						GGACAACATCGCCTGCACCTC	0.652000													12	48					0	0	1	0	0
Unknown	0	broad.mit.edu	37	15	102292797	102292797	+	Missense_Mutation	SNP	C	G	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr15:102292797C>G	uc010usj.1	+	4	444	c.385C>G	c.(385-387)CCA>GCA	p.P129A	uc002bxo.2_RNA|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank					RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																		GAGCTGCTGTCCAACCTGCAC	0.597000													3	29					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1706072	1706072	+	Silent	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr16:1706072C>T	uc010uvh.1	+	9	1314	c.1314C>T	c.(1312-1314)GAC>GAT	p.D438D	CRAMP1L_uc002cmf.2_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	438						nucleus	DNA binding				0						GTGCCAAGGACGCCCACGTGC	0.706000													10	16					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	T	T	rs11540652		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	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(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|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.R249fs*96(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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)			24	36					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7578263G>A	uc002gim.2	-	6	780	c.586C>T	c.(586-588)CGA>TGA	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	196	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (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.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)			24	22					0	0	1	0	0
Unknown	0	broad.mit.edu	37	17	37186555	37186555	+	RNA	SNP	C	T	T	rs9893920	by1000genomes	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:37186555C>T	uc002hrd.1	+	1		c.397C>T								Homo sapiens cDNA FLJ43826 fis, clone TESTI4002703.																		GAACCTTCTCCAGTCCAGCAA	0.587000													3	27					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76991172	76991172	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:76991172C>T	uc002jwn.2	-	5	1202	c.763G>A	c.(763-765)GGC>AGC	p.G255S	CANT1_uc002jwk.2_Missense_Mutation_p.G255S|CANT1_uc002jwj.2_Missense_Mutation_p.G255S|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	255	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCACGCTGCCCTTGTAGCCC	0.652000			T	ETV4	prostate								3	3					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570840	47570840	+	Silent	SNP	G	A	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr19:47570840G>A	uc002pga.3	-	15	2723	c.2685C>T	c.(2683-2685)GCC>GCT	p.A895A	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	895							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGTGGGCAGGGCGCGAGCCA	0.701000													13	19					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21226157	21226157	+	Missense_Mutation	SNP	C	T	T	rs149273387		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:21226157C>T	uc002red.2	-	29	12265	c.12137G>A	c.(12136-12138)CGG>CAG	p.R4046Q		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4046					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAGATTCCCGGACCCTCAA	0.408000													110	214					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166211024	166211024	+	Missense_Mutation	SNP	G	C	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:166211024G>C	uc002udc.2	+	17	3532	c.3242G>C	c.(3241-3243)AGT>ACT	p.S1081T	SCN2A_uc002udd.2_Missense_Mutation_p.S1081T|SCN2A_uc002ude.2_Missense_Mutation_p.S1081T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1081					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATAGGCAGCAGTGTAGAAAAA	0.388000													29	49					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								26	44					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33581234	33581234	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr20:33581234G>A	uc002xbi.1	+	24	2623	c.2531G>A	c.(2530-2532)CGC>CAC	p.R844H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	802	IQ.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGTGGCCGCCTCATGCGC	0.672000													14	18					0	0	1	0	0
C21orf99	149992	broad.mit.edu	37	21	14417427	14417427	+	RNA	SNP	A	G	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr21:14417427A>G	uc002yiy.3	+	3		c.2702A>G			C21orf99_uc002yja.3_Intron					Homo sapiens C21orf99 protein (C21orf99) mRNA, complete cds.												0						AAGGTATTCAATTCAGCTGAG	0.343000													2	5					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19026633	19026633	+	Silent	SNP	G	A	A	rs146027196		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr22:19026633G>A	uc002zoq.1	-	10	1646	c.1398C>T	c.(1396-1398)GAC>GAT	p.D466D	DGCR2_uc002zor.1_Silent_p.D242D|DGCR2_uc011agr.1_Silent_p.D422D	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	466	Cytoplasmic (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	p.D466D(1)		large_intestine(1)	1	Colorectal(54;0.0993)					AAGCATCATCGTCTGCAGGAA	0.622000													12	31					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15719776	15719776	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:15719776C>T	uc003caj.1	-	24	2700	c.2557G>A	c.(2557-2559)GAC>AAC	p.D853N	ANKRD28_uc003cai.1_Missense_Mutation_p.D699N|ANKRD28_uc011avz.1_Missense_Mutation_p.D699N|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc011avy.1_5'Flank	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	853						nucleoplasm	protein binding			breast(1)	1						CCTGTAGAGTCCACAGAATTG	0.398000													16	16					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18435971	18435971	+	Missense_Mutation	SNP	C	A	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:18435971C>A	uc003cbh.2	-	7	2924	c.1189G>T	c.(1189-1191)GCT>TCT	p.A397S	SATB1_uc003cbi.2_Missense_Mutation_p.A397S|SATB1_uc003cbj.2_Missense_Mutation_p.A397S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	397	CUT 1.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CTGTTAAAAGCCACACGTGCA	0.433000													46	92					1.61004e-24	1.6919e-24	1	1	0
SLC4A7	9497	broad.mit.edu	37	3	27439832	27439832	+	Missense_Mutation	SNP	G	C	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:27439832G>C	uc003cdv.2	-	17	2484	c.2413C>G	c.(2413-2415)CTT>GTT	p.L805V	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.L686V|SLC4A7_uc011aww.1_Missense_Mutation_p.L814V|SLC4A7_uc011awx.1_Missense_Mutation_p.L801V|SLC4A7_uc011awy.1_Missense_Mutation_p.L797V|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.L686V|SLC4A7_uc011axb.1_Missense_Mutation_p.L801V|SLC4A7_uc010hfl.2_Missense_Mutation_p.L355V|SLC4A7_uc003cdw.2_Missense_Mutation_p.L681V	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	805	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						ACACCACGAAGTTTTTTACAT	0.323000													43	43					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108195254	108195254	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:108195254G>A	uc003dxa.1	-	13	1340	c.1283C>T	c.(1282-1284)ACT>ATT	p.T428I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	428	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CTGTTCTATAGTTTGACCTCT	0.338000													26	23					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:45262407C>T	uc003jok.2	-	8	2314	c.2289G>A	c.(2287-2289)CCG>CCA	p.P763P		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	763	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTTCATTTTTCGGCGTGGAGC	0.443000													29	31					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96215430	96215430	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:96215430C>T	uc003kmq.2	+	2	751	c.41C>T	c.(40-42)CCA>CTA	p.P14L	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.P14L|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.P8L|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	14	Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CACAGAAAACCAATGTTTAAC	0.373000													6	82					0	0	1	0	0
PCDHGB5	56101	broad.mit.edu	37	5	140779561	140779561	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:140779561C>T	uc003lkf.1	+	1	1867	c.1867C>T	c.(1867-1869)CGC>TGC	p.R623C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R623C|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAGGTGCGCACAGCGCG	0.701000													23	43					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73511062	73511062	+	Missense_Mutation	SNP	C	G	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr7:73511062C>G	uc003uaa.1	+	3	428	c.263C>G	c.(262-264)TCT>TGT	p.S88C	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.S54C|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	88	LIM zinc-binding 2.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				CATGGGTGCTCTGAGCAAATC	0.597000													18	34					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86021973	86021973	+	Missense_Mutation	SNP	T	G	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr8:86021973T>G	uc003ycw.2	+	2	402	c.248T>G	c.(247-249)CTA>CGA	p.L83R	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Intron|LRRCC1_uc003ycx.2_Intron|LRRCC1_uc003ycy.2_Missense_Mutation_p.L63R	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	83	LRR 2.				cell division|mitosis	centriole|nucleus					0						ATTGAAGGACTAAACACACTG	0.323000													9	11					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85607825	85607825	+	Missense_Mutation	SNP	G	C	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:85607825G>C	uc004amo.1	-	15	2297	c.2036C>G	c.(2035-2037)GCC>GGC	p.A679G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	679					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						TCTTACCATGGCCAGTTTCTC	0.473000													76	156					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170609	104170609	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:104170609C>T	uc004bbh.1	+	3	835	c.559C>T	c.(559-561)CGC>TGC	p.R187C	ZNF189_uc004bbg.1_Missense_Mutation_p.R145C|ZNF189_uc004bbi.1_Missense_Mutation_p.R173C|ZNF189_uc011lvk.1_Missense_Mutation_p.R172C	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	187	C2H2-type 2.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)				AAGTTTTAGTCGCAGTTCATT	0.413000													37	107					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713009	138713009	+	Silent	SNP	G	A	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:138713009G>A	uc004cgr.3	-	11	3498	c.3498C>T	c.(3496-3498)TTC>TTT	p.F1166F	CAMSAP1_uc004cgq.3_Silent_p.F1056F|CAMSAP1_uc010nbg.2_Silent_p.F888F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1166						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTAACTGTCGAAGAGACACT	0.567000													105	108					0	0	1	0	0
CXorf26	51260	broad.mit.edu	37	X	75396760	75396760	+	Missense_Mutation	SNP	C	G	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:75396760C>G	uc004ecl.1	+	5	545	c.342C>G	c.(340-342)GAC>GAG	p.D114E		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	hypothetical protein LOC51260	114											0						TTGTTGAAGACTTCAACTATG	0.423000													27	80					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940431	76940431	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:76940431C>T	uc004ecp.3	-	8	894	c.662G>A	c.(661-663)AGG>AAG	p.R221K	ATRX_uc004ecq.3_Missense_Mutation_p.R183K|ATRX_uc004eco.3_Missense_Mutation_p.R6K|ATRX_uc004ecr.2_Missense_Mutation_p.R182K|ATRX_uc010nlx.1_Missense_Mutation_p.R221K|ATRX_uc010nly.1_Missense_Mutation_p.R166K	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	221	ADD.|PHD-type; atypical.				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)	TATTACCTACCTACATTGTTC	0.328000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						36	62					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114882253	114882253	+	Missense_Mutation	SNP	T	G	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:114882253T>G	uc004eqd.2	+	15	2066	c.1676T>G	c.(1675-1677)ATT>AGT	p.I559S	PLS3_uc011mtf.1_Missense_Mutation_p.I546S|PLS3_uc004eqe.2_Missense_Mutation_p.I559S|PLS3_uc011mtg.1_Missense_Mutation_p.I532S|PLS3_uc011mth.1_Missense_Mutation_p.I514S|PLS3_uc011mti.1_Missense_Mutation_p.I235S|PLS3_uc011mtj.1_Missense_Mutation_p.I153S|PLS3_uc011mtk.1_Missense_Mutation_p.I220S|PLS3_uc011mtl.1_RNA	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	559	CH 4.|Actin-binding 2.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						GTGGATTTAATTGATGCCATC	0.403000													61	94					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612569	152612569	+	Silent	SNP	G	A	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:152612569G>A	uc004fhg.1	+	4	603	c.426G>A	c.(424-426)GCG>GCA	p.A142A	ZNF275_uc011mym.1_Silent_p.A142A|ZNF275_uc011myn.1_Silent_p.A79A			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	142						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGGTGGCGGAGTTTAATG	0.607000													16	18					0	0	1	0	0
AKAP5	9495	broad.mit.edu	37	14	64936370	64936374	+	Frame_Shift_Del	DEL	AATAA	-	-			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:64936370_64936374delAATAA	uc001xhd.3	+	2	1636_1640	c.1258_1262delAATAA	c.(1258-1263)AATAAAfs	p.N420fs	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	420_421					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTCTGATGATAATAAAATAAACAAT	0.341													21	86	---	---	---	---					
