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	isArtifactMode	oxoGCut
CYP4A22	284541	broad.mit.edu	37	1	47606535	47606535	+	Silent	SNP	C	G	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:47606535C>G	uc001cqv.1	+	2	330	c.279C>G	c.(277-279)GGC>GGG	p.G93G	CYP4A22_uc009vyo.2_Silent_p.G93G|CYP4A22_uc009vyp.2_Silent_p.G93G	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	93						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						TATGGGGAGGCAAAGTTCGTG	0.507000													17	32					0	0	0	0
BRDT	676	broad.mit.edu	37	1	92459709	92459709	+	Missense_Mutation	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:92459709G>A	uc001dok.3	+	15	2534	c.2185G>A	c.(2185-2187)GTA>ATA	p.V729I	BRDT_uc001dol.3_Missense_Mutation_p.V729I|BRDT_uc010osz.1_Missense_Mutation_p.V733I|BRDT_uc009wdf.2_Missense_Mutation_p.V656I|BRDT_uc010ota.1_Missense_Mutation_p.V683I|BRDT_uc010otb.1_Missense_Mutation_p.V683I|BRDT_uc001dom.3_Missense_Mutation_p.V729I	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACCTTCACATGTAATGCCACC	0.363000													13	30					0	0	0	0
RPAP2	79871	broad.mit.edu	37	1	92789439	92789439	+	Missense_Mutation	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:92789439G>A	uc001dot.2	+	8	1071	c.962G>A	c.(961-963)AGG>AAG	p.R321K	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	321						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GAATACAGTAGGTCAGAAATA	0.348000													3	4					0	0	0	0
SPAG17	200162	broad.mit.edu	37	1	118583438	118583438	+	Silent	SNP	T	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:118583438T>A	uc001ehk.2	-	22	3149	c.3081A>T	c.(3079-3081)ATA>ATT	p.I1027I		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1027						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGAGTGGGTATATTTCCCA	0.368000													10	17					0	0	0	0
NUP210L	91181	broad.mit.edu	37	1	153973462	153973462	+	Silent	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:153973462G>A	uc001fdw.2	-	37	5328	c.5256C>T	c.(5254-5256)TAC>TAT	p.Y1752Y	NUP210L_uc009woq.2_Silent_p.Y661Y|NUP210L_uc010peh.1_Intron	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1752						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTCTTACAGAGTAAATGGCCA	0.478000													29	46					0	0	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446778	169446778	+	Missense_Mutation	SNP	T	C	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:169446778T>C	uc001gge.3	-	2	626	c.422A>G	c.(421-423)TAT>TGT	p.Y141C	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	141	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					ATAAGAGTAATAGGCAATTTC	0.453000													8	13					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	216420335	216420335	+	Missense_Mutation	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:216420335C>T	uc001hku.1	-	13	2788	c.2401G>A	c.(2401-2403)GGA>AGA	p.G801R	USH2A_uc001hkv.2_Missense_Mutation_p.G801R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	801	Extracellular (Potential).|Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGAGGGATCCAGCTGTGTCA	0.468000										HNSCC(13;0.011)			6	11					0	0	0	0
RHOU	58480	broad.mit.edu	37	1	228871725	228871725	+	Missense_Mutation	SNP	T	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:228871725T>A	uc001htf.2	+	1	857	c.236T>A	c.(235-237)ATC>AAC	p.I79N		NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	ras homolog gene family, member U	79					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding				0	Breast(184;0.162)	Prostate(94;0.183)				ACCGAGTACATCCCTACTGCC	0.488000													9	17					0	0	0	0
Unknown	0	broad.mit.edu	37	10	30987150	30987150	+	Translation_Start_Site	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:30987150G>A	uc010qdx.1	+	4	422	c.-120G>A	c.(-122--118)GGGTG>GGATG							SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		AAGCTTCTGGGTGGCCAAACC	0.403000													9	22					0	0	0	0
ANK3	288	broad.mit.edu	37	10	61831145	61831145	+	Missense_Mutation	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:61831145C>T	uc001jky.2	-	37	9686	c.9494G>A	c.(9493-9495)AGC>AAC	p.S3165N	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3165					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GGTTAAAGGGCTTTTCCCAGA	0.438000													3	2					0	0	0	0
PDCD11	22984	broad.mit.edu	37	10	105172881	105172881	+	Silent	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:105172881C>T	uc001kwy.1	+	9	1074	c.987C>T	c.(985-987)GCC>GCT	p.A329A		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	329	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGGTGAGGGCCTGCATCCTTT	0.587000													7	6					0	0	0	0
OR51V1	283111	broad.mit.edu	37	11	5221625	5221625	+	Missense_Mutation	SNP	G	C	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:5221625G>C	uc010qyz.1	-	1	306	c.306C>G	c.(304-306)AGC>AGG	p.S102R		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	102	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAATCCAAGCTGATCTCTC	0.522000													6	6					0	0	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838753	16838753	+	Missense_Mutation	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:16838753G>A	uc001mmo.2	-	11	1475	c.1460C>T	c.(1459-1461)CCT>CTT	p.P487L	PLEKHA7_uc010rcu.1_Missense_Mutation_p.P487L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.P61L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.P195L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	487					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						GTTTCGGGGAGGTGGCGAGGA	0.637000													16	27					0	0	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136523	40136523	+	Silent	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:40136523G>T	uc001mxa.1	-	2	3284	c.1320C>A	c.(1318-1320)ACC>ACA	p.T440T	LRRC4C_uc001mxc.1_Silent_p.T436T|LRRC4C_uc001mxd.1_Silent_p.T436T|LRRC4C_uc001mxb.1_Silent_p.T436T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	440	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TAACATTCAGGGTGGCTGAAG	0.443000													9	16					2.80697e-09	4.16368e-09	1	0
GUCY2C	2984	broad.mit.edu	37	12	14766103	14766103	+	Missense_Mutation	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:14766103G>T	uc001rcd.2	-	27	3307	c.3170C>A	c.(3169-3171)ACT>AAT	p.T1057N		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	1057	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						GTATTCCAGAGTGCCTTTTTT	0.413000													14	25					4.7546e-09	6.93705e-09	1	0
MLL2	8085	broad.mit.edu	37	12	49422696	49422696	+	Missense_Mutation	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:49422696G>A	uc001rta.3	-	45	14297	c.14297C>T	c.(14296-14298)CCT>CTT	p.P4766L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4766					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGCTTTCCAGGGACCTCCAG	0.547000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			11	25					0	0	0	0
KRT6C	286887	broad.mit.edu	37	12	52864970	52864970	+	Nonsense_Mutation	SNP	G	C	C	rs11540289	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:52864970G>C	uc001sal.3	-	5	1071	c.1023C>G	c.(1021-1023)TAC>TAG	p.Y341*		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	341	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CAATCTCCTCGTATTGGGCCT	0.572000													25	67					0	0	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420705	55420705	+	Missense_Mutation	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:55420705G>A	uc001sgp.3	+	2	860	c.482G>A	c.(481-483)GGG>GAG	p.G161E		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	161					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						CTGTGTAAAGGGCTCTCTCAG	0.517000													5	10					0	0	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57866398	57866398	+	Silent	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:57866398G>T	uc001sod.2	-	21	2561	c.2368C>A	c.(2368-2370)CGG>AGG	p.R790R	ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Silent_p.R516R|ARHGAP9_uc001soa.2_Silent_p.R389R|ARHGAP9_uc001sob.2_3'UTR|ARHGAP9_uc001soc.2_Silent_p.R700R	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	719	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			TGCTCTGGCCGAAACAGGGTT	0.552000													8	12					0.000157383	0.000194543	1	0
PTPRR	5801	broad.mit.edu	37	12	71158516	71158516	+	Missense_Mutation	SNP	G	C	C	rs139968754	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:71158516G>C	uc001swi.1	-	3	816	c.400C>G	c.(400-402)CGG>GGG	p.R134G	PTPRR_uc010stq.1_Missense_Mutation_p.R22G	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	134	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CGGAAGATCCGAAGCAAGGTT	0.383000													9	20					0	0	0	0
SYT1	6857	broad.mit.edu	37	12	79611319	79611319	+	Missense_Mutation	SNP	A	G	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:79611319A>G	uc001sys.2	+	5	691	c.20A>G	c.(19-21)CAT>CGT	p.H7R	SYT1_uc001syt.2_Missense_Mutation_p.H7R|SYT1_uc001syu.2_Missense_Mutation_p.H7R|SYT1_uc001syv.2_Missense_Mutation_p.H7R	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	7	Vesicular (Potential).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						GAGAGTCACCATGAGGCCCTG	0.537000													7	10					0	0	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485339	97485339	+	Silent	SNP	C	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:97485339C>A	uc001vmw.2	+	2	1327	c.1303C>A	c.(1303-1305)CGG>AGG	p.R435R		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	435	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CCAGAAGCGGCGGGAGGAGCG	0.597000													8	6					0.000442599	0.000539607	1	0
GABRB3	2562	broad.mit.edu	37	15	26792997	26792997	+	Silent	SNP	C	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:26792997C>A	uc001zaz.2	-	9	1507	c.1365G>T	c.(1363-1365)GTG>GTT	p.V455V	GABRB3_uc010uae.1_Silent_p.V370V|GABRB3_uc001zba.2_Silent_p.V455V|GABRB3_uc001zbb.2_Silent_p.V511V	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	455	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGAATGGAAACACGATCCTGG	0.393000													5	5					0.000602214	0.000714628	1	0
GANC	2595	broad.mit.edu	37	15	42631928	42631928	+	Silent	SNP	T	C	C	rs36023127	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:42631928T>C	uc001zpi.2	+	17	2219	c.1905T>C	c.(1903-1905)GCT>GCC	p.A635A		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	635					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	p.A635A(1)		central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GGTACCAGGCTGGAGCCTACC	0.567000													8	11					0	0	0	0
PPP4C	5531	broad.mit.edu	37	16	30093844	30093844	+	Missense_Mutation	SNP	G	C	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:30093844G>C	uc002dwe.2	+	4	334	c.190G>C	c.(190-192)GAG>CAG	p.E64Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.E64Q|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_5'UTR	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	64				E->K: Abolishes interaction with PPP4R4.	microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						TGACCTCAAAGAGCTGTTCAG	0.537000													6	11					0	0	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404342	34404342	+	RNA	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:34404342G>A	uc002edv.1	-	1		c.421C>T				NR_002837				full-length cDNA clone CS0DH003YB23 of T cells (Jurkat cell line) of Homo sapiens (human).												0						CTTCACCTTGGGGGGATCATG	0.502000													4	6					0	0	0	0
MYOCD	93649	broad.mit.edu	37	17	12656076	12656076	+	Missense_Mutation	SNP	G	T	T	rs149104165	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:12656076G>T	uc002gnn.2	+	10	1770	c.1471G>T	c.(1471-1473)GTG>TTG	p.V491L	MYOCD_uc002gno.2_Missense_Mutation_p.V491L|MYOCD_uc002gnp.1_Missense_Mutation_p.V395L|MYOCD_uc002gnq.2_Missense_Mutation_p.V210L	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	491	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCAGTCCACGTGTGCACGGA	0.612000													5	4					0.00198382	0.00229298	1	0
ZNF750	79755	broad.mit.edu	37	17	80790186	80790186	+	Missense_Mutation	SNP	A	G	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:80790186A>G	uc002kga.2	-	2	456	c.145T>C	c.(145-147)TGT>CGT	p.C49R	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	49						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGTTTTTACAAAGACCATAC	0.438000													8	18					0	0	0	0
EPB41L3	23136	broad.mit.edu	37	18	5394711	5394711	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:5394711C>A	uc002kmt.1	-	22	3321	c.3235G>T	c.(3235-3237)GAG>TAG	p.E1079*	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Nonsense_Mutation_p.E857*|EPB41L3_uc010dkq.1_Nonsense_Mutation_p.E748*|EPB41L3_uc002kms.1_Nonsense_Mutation_p.E314*|EPB41L3_uc010wze.1_Nonsense_Mutation_p.E384*|EPB41L3_uc010wzf.1_Nonsense_Mutation_p.E376*|EPB41L3_uc010wzg.1_Nonsense_Mutation_p.E351*|EPB41L3_uc010dkr.2_Nonsense_Mutation_p.E471*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1079	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GGTGTGATCTCTGTCTCTTTA	0.527000													19	26					1.64293e-13	2.56528e-13	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14763758	14763758	+	Missense_Mutation	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:14763758G>T	uc010dlo.2	+	7	1074	c.894G>T	c.(892-894)TTG>TTT	p.L298F	ANKRD30B_uc010xak.1_RNA	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	298										ovary(1)|skin(1)	2						CTGAAAGCTTGCTGGAAAAAA	0.483000													9	1					1.12685e-05	1.47485e-05	1	0
DCC	1630	broad.mit.edu	37	18	50451655	50451655	+	Silent	SNP	G	C	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:50451655G>C	uc002lfe.1	+	5	1487	c.900G>C	c.(898-900)GTG>GTC	p.V300V	DCC_uc010xdr.1_Silent_p.V148V	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	300	Extracellular (Potential).|Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCAATGTGACAGATGATG	0.378000													12	17					0	0	0	0
KEAP1	9817	broad.mit.edu	37	19	10610642	10610642	+	Missense_Mutation	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:10610642C>T	uc002moq.1	-	2	224	c.68G>A	c.(67-69)TGC>TAC	p.C23Y	KEAP1_uc002mor.1_Missense_Mutation_p.C23Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	23			C -> Y (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.C23Y(1)		lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCCTCAGGGCACTGTGACTG	0.652000													9	18					0	0	0	0
CACNA1A	773	broad.mit.edu	37	19	13411423	13411423	+	Silent	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:13411423C>T	uc010dze.2	-	18	2459	c.2223G>A	c.(2221-2223)CAG>CAA	p.Q741Q	CACNA1A_uc010dzc.2_Silent_p.Q266Q|CACNA1A_uc002mwy.3_Silent_p.Q740Q|CACNA1A_uc010xne.1_Silent_p.Q269Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	741	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTTGGCTTTCTGTAGGGCAA	0.522000													16	22					0	0	0	0
ZNF569	148266	broad.mit.edu	37	19	37904957	37904957	+	Silent	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:37904957G>A	uc002ogi.2	-	6	1161	c.603C>T	c.(601-603)CTC>CTT	p.L201L	ZNF569_uc002ogh.2_Silent_p.L42L|ZNF569_uc002ogj.2_Silent_p.L225L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	201	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTCTGATGAGGTCCAAAG	0.358000													7	6					0	0	0	0
PSG8	440533	broad.mit.edu	37	19	43268170	43268171	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:43268170_43268171GG>TT	uc002ouo.2	-	2	425_426	c.327_328CC>AA	c.(325-330)ATCCAG>ATAAAG	p.Q110K	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.Q110K|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.Q110K|PSG8_uc002oum.3_Missense_Mutation_p.Q110K|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.Q110K	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	110	Ig-like V-type.					extracellular region					0		Prostate(69;0.00899)				GTGACATTCTGGATCAGCAGGG	0.411000													28	75					0	0	0	0
CPT1C	126129	broad.mit.edu	37	19	50216783	50216783	+	Missense_Mutation	SNP	A	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50216783A>T	uc002ppj.2	+	19	2538	c.2333A>T	c.(2332-2334)GAG>GTG	p.E778V	CPT1C_uc002ppk.2_Missense_Mutation_p.E767V|CPT1C_uc010eng.2_Missense_Mutation_p.E778V|CPT1C_uc010enh.2_Missense_Mutation_p.E778V|CPT1C_uc010eni.1_Missense_Mutation_p.E346V	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	778	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCAGGGAAGGAGAACTCCAGG	0.607000													18	17					0	0	0	0
ZNF808	388558	broad.mit.edu	37	19	53058525	53058525	+	Missense_Mutation	SNP	A	G	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:53058525A>G	uc010epq.1	+	5	2533	c.2356A>G	c.(2356-2358)ACT>GCT	p.T786A	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAGACTTCATACTGGAGAGAA	0.423000													47	33					0	0	0	0
AURKC	6795	broad.mit.edu	37	19	57744012	57744012	+	Missense_Mutation	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57744012G>T	uc002qoe.2	+	4	588	c.399G>T	c.(397-399)CAG>CAT	p.Q133H	AURKC_uc002qoc.2_Missense_Mutation_p.Q114H|AURKC_uc002qod.2_Missense_Mutation_p.Q99H|AURKC_uc010etv.2_Missense_Mutation_p.Q130H	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	133	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGGAGCTGCAGAAAAGCGAGA	0.537000													11	9					2.80697e-09	4.16368e-09	1	0
GREB1	9687	broad.mit.edu	37	2	11737977	11737977	+	Silent	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:11737977G>T	uc002rbk.1	+	14	2325	c.2025G>T	c.(2023-2025)GTG>GTT	p.V675V	GREB1_uc002rbo.1_Silent_p.V309V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	675						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCTCCCATGTGTGTTCCATTG	0.557000													31	65					1.22384e-17	1.94502e-17	1	0
AFF3	3899	broad.mit.edu	37	2	100203726	100203726	+	Silent	SNP	G	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:100203726G>A	uc002tag.2	-	15	2717	c.2481C>T	c.(2479-2481)GAC>GAT	p.D827D	AFF3_uc002taf.2_Silent_p.D852D|AFF3_uc010fiq.1_Silent_p.D827D|AFF3_uc010yvr.1_Silent_p.D980D|AFF3_uc002tah.1_Silent_p.D852D	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	827					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CCCTGTAGTCGTCTTCGTTGT	0.473000													15	17					0	0	0	0
AFF3	3899	broad.mit.edu	37	2	100217970	100217970	+	Missense_Mutation	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:100217970C>T	uc002tag.2	-	13	1534	c.1298G>A	c.(1297-1299)GGA>GAA	p.G433E	AFF3_uc002taf.2_Missense_Mutation_p.G458E|AFF3_uc010fiq.1_Missense_Mutation_p.G433E|AFF3_uc010yvr.1_Missense_Mutation_p.G586E|AFF3_uc002tah.1_Missense_Mutation_p.G458E	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	433					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CGAGTCAGATCCGGAGCTGCT	0.537000													3	4					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141473634	141473634	+	Silent	SNP	A	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:141473634A>T	uc002tvj.1	-	37	6903	c.5931T>A	c.(5929-5931)ATT>ATA	p.I1977I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1977	Extracellular (Potential).|LDL-receptor class B 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCAACTTCAATTAAGTTGA	0.343000										TSP Lung(27;0.18)			5	9					0	0	0	0
WDR69	164781	broad.mit.edu	37	2	228786234	228786234	+	Silent	SNP	C	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:228786234C>A	uc002vpn.1	+	12	1249	c.1170C>A	c.(1168-1170)ATC>ATA	p.I390I	WDR69_uc010zlw.1_Silent_p.I375I|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	390	WD 8.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTGATGAAATCTTTTCATGTG	0.443000													7	6					0.00448238	0.00504977	1	0
SAMHD1	25939	broad.mit.edu	37	20	35526865	35526866	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:35526865_35526866GC>TT	uc002xgh.1	-	14	1715_1716	c.1585_1586GC>AA	c.(1585-1587)GCA>AAA	p.A529K	SAMHD1_uc010gft.1_Intron	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	529					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				AATCCTGATTGCTCTGTTGGGG	0.322000													7	13					0	0	0	0
PTGIS	5740	broad.mit.edu	37	20	48127716	48127716	+	Missense_Mutation	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:48127716C>T	uc002xut.2	-	9	1261	c.1207G>A	c.(1207-1209)GTA>ATA	p.V403I	PTGIS_uc010zyi.1_Missense_Mutation_p.V264I	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	403					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TATTTAAATACCTGAAATAGG	0.343000													3	4					0	0	0	0
SIDT1	54847	broad.mit.edu	37	3	113320475	113320475	+	Missense_Mutation	SNP	C	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:113320475C>A	uc003eak.2	+	11	1737	c.1086C>A	c.(1084-1086)AGC>AGA	p.S362R	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.S362R|SIDT1_uc011big.1_Missense_Mutation_p.S115R|SIDT1_uc011bih.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	362	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TTGCTGCCAGCACACCCGAAG	0.418000													5	10					5.18039e-06	6.98568e-06	1	0
AGTR1	185	broad.mit.edu	37	3	148459143	148459143	+	Missense_Mutation	SNP	C	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:148459143C>A	uc003ewg.2	+	4	767	c.321C>A	c.(319-321)AGC>AGA	p.S107R	AGTR1_uc003ewh.2_Missense_Mutation_p.S107R|AGTR1_uc003ewi.2_Missense_Mutation_p.S107R|AGTR1_uc003ewj.2_Missense_Mutation_p.S107R|AGTR1_uc003ewk.2_Missense_Mutation_p.S107R	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	107	Helical; Name=3; (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTTCAGCCAGCGTCAGTTTCA	0.473000													14	23					9.31168e-06	1.23692e-05	1	0
CP	1356	broad.mit.edu	37	3	148925398	148925398	+	Missense_Mutation	SNP	T	C	C	rs150303869	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:148925398T>C	uc003ewy.3	-	5	1041	c.788A>G	c.(787-789)AAT>AGT	p.N263S	CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.N44S|CP_uc003ewz.2_Missense_Mutation_p.N263S|CP_uc010hvf.1_5'UTR	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	263	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGTGTATCCATTCACAGCTGT	0.373000													5	10					0	0	0	0
MAP3K13	9175	broad.mit.edu	37	3	185167779	185167779	+	Missense_Mutation	SNP	A	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:185167779A>T	uc010hyf.2	+	7	1368	c.1102A>T	c.(1102-1104)AAC>TAC	p.N368Y	MAP3K13_uc011brt.1_Missense_Mutation_p.N161Y|MAP3K13_uc003fph.3_Missense_Mutation_p.N136Y|MAP3K13_uc011bru.1_Missense_Mutation_p.N224Y|MAP3K13_uc003fpi.2_Missense_Mutation_p.N368Y|MAP3K13_uc010hyg.2_Missense_Mutation_p.N58Y	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	368	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTGGAAGCAACAGCCTCCA	0.453000													15	7					0	0	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447135	10447135	+	Missense_Mutation	SNP	T	C	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:10447135T>C	uc003gmn.2	-	3	1305	c.818A>G	c.(817-819)CAC>CGC	p.H273R		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						CATGATATTGTGCATTTTGTC	0.373000													20	32					0	0	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816147	23816147	+	Missense_Mutation	SNP	C	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:23816147C>A	uc003gqs.2	-	8	1079	c.959G>T	c.(958-960)TGC>TTC	p.C320F	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	320	Interaction with PPARG.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				CACAGTCTTGCAAGAGGACTT	0.488000													13	26					2.32078e-09	3.5612e-09	1	0
KIT	3815	broad.mit.edu	37	4	55599309	55599309	+	Missense_Mutation	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:55599309G>T	uc010igr.2	+	17	2522	c.2435G>T	c.(2434-2436)GGT>GTT	p.G812V	KIT_uc010igs.2_Missense_Mutation_p.G808V	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	812	Protein kinase.|Cytoplasmic (Potential).		G -> V (in PBT).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGATTTTGGTCTAGCCAGA	0.393000		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				9	22					7.48243e-07	1.02452e-06	1	0
SLC4A4	8671	broad.mit.edu	37	4	72363397	72363397	+	Silent	SNP	T	C	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:72363397T>C	uc003hfy.2	+	16	2271	c.2154T>C	c.(2152-2154)TAT>TAC	p.Y718Y	SLC4A4_uc010iic.2_Silent_p.Y718Y|SLC4A4_uc010iib.2_Silent_p.Y718Y|SLC4A4_uc003hfz.2_Silent_p.Y718Y|SLC4A4_uc003hgc.3_Silent_p.Y674Y|SLC4A4_uc010iid.2_Intron	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	718	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTAGTCCTTATTTTCCAACCA	0.343000													8	10					0	0	0	0
FAT4	79633	broad.mit.edu	37	4	126337709	126337709	+	Missense_Mutation	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:126337709G>T	uc003ifj.3	+	6	6950	c.6950G>T	c.(6949-6951)GGA>GTA	p.G2317V	FAT4_uc011cgp.1_Missense_Mutation_p.G615V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2317	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGAGAACTTGGAGTAACACAG	0.413000													14	18					3.27435e-08	4.5534e-08	1	0
ZNF330	27309	broad.mit.edu	37	4	142150788	142150788	+	Missense_Mutation	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:142150788G>T	uc003iiq.3	+	6	575	c.355G>T	c.(355-357)GCT>TCT	p.A119S	ZNF330_uc011chl.1_Missense_Mutation_p.A59S	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	119						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)					CAGTACACATGCTTGTGCCTG	0.443000													28	25					9.78306e-22	1.58308e-21	1	0
SDHAP3	728609	broad.mit.edu	37	5	1593326	1593326	+	Missense_Mutation	SNP	G	A	A	rs6872202	by1000genomes	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:1593326G>A	uc010itg.1	-	2	211	c.134C>T	c.(133-135)TCG>TTG	p.S45L	SDHAP3_uc011cme.1_RNA					Homo sapiens cDNA clone IMAGE:40127561.												0						ACCATGTACCGAGGCACAGGC	0.582000													10	22					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11199589	11199589	+	Missense_Mutation	SNP	G	C	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:11199589G>C	uc003jfa.1	-	11	2091	c.1946C>G	c.(1945-1947)ACT>AGT	p.T649S	CTNND2_uc010itt.2_Missense_Mutation_p.T558S|CTNND2_uc011cmy.1_Missense_Mutation_p.T312S|CTNND2_uc011cmz.1_Missense_Mutation_p.T216S|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.T216S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	649	ARM 4.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CTCCAGGTCAGTCGTCTTGCG	0.428000													22	56					0	0	0	0
PDZD2	23037	broad.mit.edu	37	5	31983413	31983413	+	Missense_Mutation	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:31983413C>T	uc003jhl.2	+	3	1017	c.629C>T	c.(628-630)GCG>GTG	p.A210V	PDZD2_uc003jhm.2_Missense_Mutation_p.A210V|PDZD2_uc011cnx.1_Missense_Mutation_p.A36V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.A210V(1)		central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GACCGAACTGCGAAAAAGGGG	0.542000													6	10					0	0	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762628	140762628	+	Silent	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140762628G>T	uc003lka.1	+	1	162	c.162G>T	c.(160-162)CTG>CTT	p.L54L	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_uc003ljz.1_Silent_p.L54L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	54	Cadherin 1.|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)			ACCTGGGGCTGGAGCCCCGGG	0.652000													5	5					0.000157383	0.000194543	1	0
LARP1	23367	broad.mit.edu	37	5	154193517	154193517	+	Missense_Mutation	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:154193517G>T	uc003lvp.2	+	19	3581	c.3152G>T	c.(3151-3153)AGG>ATG	p.R1051M	LARP1_uc003lvo.2_Missense_Mutation_p.R974M	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	1051							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTGAGGGCAGGAAGCGGTGC	0.642000													10	18					0.00010058	0.00012788	1	0
NSD1	64324	broad.mit.edu	37	5	176638368	176638368	+	Nonsense_Mutation	SNP	G	T	T	rs138673583		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:176638368G>T	uc003mfr.3	+	5	3106	c.2968G>T	c.(2968-2970)GAG>TAG	p.E990*	NSD1_uc003mft.3_Nonsense_Mutation_p.E721*|NSD1_uc003mfs.1_Nonsense_Mutation_p.E887*|NSD1_uc011dfx.1_Nonsense_Mutation_p.E638*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	990					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTATCTGGCGAGTTGTCTGC	0.527000			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			13	10					3.27435e-08	4.5534e-08	1	0
DSP	1832	broad.mit.edu	37	6	7584607	7584607	+	Missense_Mutation	SNP	A	G	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:7584607A>G	uc003mxp.1	+	24	7391	c.7112A>G	c.(7111-7113)CAG>CGG	p.Q2371R	DSP_uc003mxq.1_Missense_Mutation_p.Q1772R	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2371	Plectin 10.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAGAAGCACAGATCGCAACC	0.443000													8	10					0	0	0	0
POPDC3	64208	broad.mit.edu	37	6	105606552	105606552	+	Silent	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:105606552C>T	uc003prb.2	-	4	1071	c.669G>A	c.(667-669)CAG>CAA	p.Q223Q	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	223						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGTAGCGATGCTGAGCAAAGA	0.393000													21	51					0	0	0	0
RGS17	26575	broad.mit.edu	37	6	153347667	153347667	+	Missense_Mutation	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:153347667C>T	uc003qpm.2	-	3	287	c.131G>A	c.(130-132)AGG>AAG	p.R44K		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	44					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TTCTTCATTCCTCACAGTGAG	0.403000									Lung_Cancer_Familial_Clustering_of				17	39					0	0	0	0
ZNF479	90827	broad.mit.edu	37	7	57188501	57188501	+	Silent	SNP	A	G	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:57188501A>G	uc010kzo.2	-	5	892	c.621T>C	c.(619-621)CAT>CAC	p.H207H		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	207	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCCTAGTATGAATTACCT	0.328000													2	0					0	0	0	0
SGK223	157285	broad.mit.edu	37	8	8234718	8234718	+	Missense_Mutation	SNP	G	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:8234718G>T	uc003wsh.3	-	2	1201	c.1201C>A	c.(1201-1203)CCC>ACC	p.P401T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	401							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GCCTCCCGGGGGTGGGCCGGG	0.642000													7	9					0.00448238	0.00504977	1	0
KCNU1	157855	broad.mit.edu	37	8	36693861	36693861	+	Missense_Mutation	SNP	A	G	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:36693861A>G	uc010lvw.2	+	13	1430	c.1343A>G	c.(1342-1344)CAG>CGG	p.Q448R	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	448	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATCATACAGATACTGCAA	0.358000													12	22					0	0	0	0
ARX	170302	broad.mit.edu	37	X	25028384	25028384	+	Missense_Mutation	SNP	C	G	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:25028384C>G	uc004dbp.3	-	3	1323	c.1112G>C	c.(1111-1113)CGA>CCA	p.R371P		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	aristaless related homeobox	371	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CACCTGGACTCGGGCCTCGGT	0.632000													4	1					0	0	0	0
Unknown	0	broad.mit.edu	37	X	26178742	26178742	+	IGR	SNP	C	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:26178742C>A								MAGEB18 (19890 upstream) : MAGEB6 (31815 downstream)																							GAAGAGTAAGCTCCGTGCCCG	0.597000													5	3					0.00116845	0.00136831	1	0
FAM47C	442444	broad.mit.edu	37	X	37027442	37027442	+	Missense_Mutation	SNP	C	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:37027442C>T	uc004ddl.1	+	1	973	c.959C>T	c.(958-960)CCA>CTA	p.P320L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	320										ovary(3)	3						CATCTCCGCCCAGAGCCTTCT	0.602000													6	6					0	0	0	0
PRRG1	5638	broad.mit.edu	37	X	37265460	37265460	+	Splice_Site	SNP	A	C	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:37265460A>C	uc004ddn.2	+	3	213	c.-40_splice	c.e3-2		PRRG1_uc004ddo.2_Splice_Site|PRRG1_uc010ngx.1_Splice_Site	NM_000950	NP_000941	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1							extracellular region|integral to plasma membrane	calcium ion binding			ovary(1)|breast(1)	2						TGTTTTGTACAGGGAATCATC	0.438000													4	7					0	0	0	0
ODZ1	10178	broad.mit.edu	37	X	123518698	123518698	+	Missense_Mutation	SNP	A	T	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:123518698A>T	uc004euj.2	-	29	6126	c.6062T>A	c.(6061-6063)CTT>CAT	p.L2021H	ODZ1_uc011muj.1_Missense_Mutation_p.L2027H|ODZ1_uc010nqy.2_Missense_Mutation_p.L2028H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2021	YD 14.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GCGTCCAATAAGAGGTCCTGC	0.423000													4	1					0	0	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985531	140985531	+	Silent	SNP	C	A	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:140985531C>A	uc011mwp.1	+	8	1845	c.1845C>A	c.(1843-1845)GCC>GCA	p.A615A	MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	615	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACAGAGCCCAGGCCATAA	0.473000													5	9					3.59834e-05	4.64133e-05	1	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249125	71249126	+	In_Frame_Ins	INS	-	GGCTGTGGCTCCGGCTGTGGG	GGCTGTGGCTCCGGCTGTGGG	rs113379698		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:71249125_71249126insGGCTGTGGCTCCGGCTGTGGG	uc001oqr.1	+	1	55_56	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(22-27)insGGCTGTGGCTCCGGCTGTGGG	p.22_23insGCGSGCG		NM_021046	NP_066384	O75690	KRA58_HUMAN	keratin associated protein 5-8	22_23						extracellular region|keratin filament	structural constituent of epidermis				0						GCTGCTCTGGAGGCTGTGGCTC	0.649													---	---	---							
GRIK4	2900	broad.mit.edu	37	11	120776131	120776131	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:120776131delG	uc001pxn.2	+	13	1692	c.1405delG	c.(1405-1407)GGGfs	p.G469fs	GRIK4_uc009zav.1_Frame_Shift_Del_p.G469fs|GRIK4_uc009zaw.1_Frame_Shift_Del_p.G469fs|GRIK4_uc009zax.1_Frame_Shift_Del_p.G469fs	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	469	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCGCCTGGTTGGGGATGGCGT	0.597													---	---	---							
Unknown	0	broad.mit.edu	37	12	10658429	10658430	+	IGR	INS	-	C	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:10658429_10658430insC								KLRC1 (51445 upstream) : KLRA1 (82648 downstream)																							GGCCTCCGCATCCCCGCCCCGC	0.634													---	---	---							
SCFD1	23256	broad.mit.edu	37	14	31112596	31112596	+	Frame_Shift_Del	DEL	T	-	-	rs35121540		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:31112596delT	uc001wqm.1	+	7	622	c.598delT	c.(598-600)TTTfs	p.F200fs	SCFD1_uc001wqn.1_Frame_Shift_Del_p.F133fs|SCFD1_uc010tpg.1_Frame_Shift_Del_p.F141fs|SCFD1_uc010tph.1_Frame_Shift_Del_p.F15fs|SCFD1_uc010amf.1_Frame_Shift_Del_p.F15fs|SCFD1_uc010tpi.1_Frame_Shift_Del_p.F108fs|SCFD1_uc010amd.1_5'UTR|SCFD1_uc010ame.1_Frame_Shift_Del_p.F133fs	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	200					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CCTCTTCTGCTTTTTTGTTAC	0.338													---	---	---							
TP53	7157	broad.mit.edu	37	17	7578255	7578255	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:7578255delT	uc002gim.2	-	6	788	c.594delA	c.(592-594)GAAfs	p.E198fs	TP53_uc002gig.1_Frame_Shift_Del_p.E198fs|TP53_uc002gih.2_Frame_Shift_Del_p.E198fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.E66fs|TP53_uc010cng.1_Frame_Shift_Del_p.E66fs|TP53_uc002gii.1_Frame_Shift_Del_p.E66fs|TP53_uc010cnh.1_Frame_Shift_Del_p.E198fs|TP53_uc010cni.1_Frame_Shift_Del_p.E198fs|TP53_uc002gij.2_Frame_Shift_Del_p.E198fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.E105fs|TP53_uc002gio.2_Frame_Shift_Del_p.E66fs|TP53_uc010vug.1_Frame_Shift_Del_p.E159fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	198	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> G (in sporadic cancers; somatic mutation).|E -> D (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> Q (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.E198*(17)|p.0?(7)|p.E198K(4)|p.G199fs*48(3)|p.E198Q(2)|p.E198fs*11(2)|p.E198_L201>V(1)|p.K164_P219del(1)|p.G67fs*>24(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.E198G(1)|p.G106fs*48(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.E198fs*49(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)		GCAAATTTCCTTCCACTCGGA	0.542		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)			---	---	---							
Unknown	0	broad.mit.edu	37	2	207101346	207101347	+	IGR	DEL	CA	-	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:207101346_207101347delCA								GPR1 (18575 upstream) : ZDBF2 (38176 downstream)																							TGGAACACTTCACACAGGGATT	0.406													---	---	---							
XRCC5	7520	broad.mit.edu	37	2	216972361	216972362	+	5'Flank	DEL	TC	-	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:216972361_216972362delTC	uc002vfy.2	+							NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II						double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TCTTTCCTTTTCTCTCTCTCTC	0.243								Direct_reversal_of_damage|NHEJ					---	---	---							
EP300	2033	broad.mit.edu	37	22	41566476	41566478	+	In_Frame_Del	DEL	TCC	-	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:41566476_41566478delTCC	uc003azl.3	+	27	4748_4750	c.4353_4355delTCC	c.(4351-4356)CATCCT>CAT	p.P1453del		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1453					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.P1452L(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TCCATTGCCATCCTCCTGACCAG	0.429			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				---	---	---							
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	-	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:67589623_67589634delATATGATAGATT	uc003jva.2	+	11	1946_1957	c.1386_1397delATATGATAGATT	c.(1384-1398)GAATATGATAGATTA>GAA	p.YDRL463del	PIK3R1_uc003jvb.2_In_Frame_Del_p.YDRL463del|PIK3R1_uc003jvc.2_In_Frame_Del_p.YDRL163del|PIK3R1_uc003jvd.2_In_Frame_Del_p.YDRL193del|PIK3R1_uc003jve.2_In_Frame_Del_p.YDRL142del|PIK3R1_uc011crb.1_In_Frame_Del_p.YDRL133del	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	463_466					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D434_Q475del(2)|p.D464fs*2(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.Y463_L466del(1)|p.T454_D464del(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			---	---	---							
PCDHA7	56141	broad.mit.edu	37	5	140216084	140216085	+	Frame_Shift_Ins	INS	-	A	A	rs138671187		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140216084_140216085insA	uc003lhq.2	+	1	2116_2117	c.2116_2117insA	c.(2116-2118)GCGfs	p.A706fs	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Frame_Shift_Ins_p.A706fs	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCATCTGCGCGGTGTCCAGT	0.619													---	---	---							
Unknown	0	broad.mit.edu	37	7	1236010	1236010	+	IGR	DEL	G	-	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:1236010delG								ZFAND2A (36155 upstream) : UNCX (36644 downstream)																							CTGTGATGAAGGGGCGGGTGG	0.677													---	---	---							
C7orf57	136288	broad.mit.edu	37	7	48086205	48086205	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08									Somatic	Phase_I	Capture				Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:48086205delA	uc003toh.3	+	5	711	c.499delA	c.(499-501)AAAfs	p.K167fs	C7orf57_uc003toi.3_Frame_Shift_Del_p.K41fs	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	hypothetical protein LOC136288	167										ovary(1)	1						TGAAAAGGAGAAAAAAAAGGT	0.498													---	---	---							
