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_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CREBBP	1387	broad.mit.edu	37	16	3781375	3781375	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:3781375G>A	ENST00000262367.5	-	30	5799	c.4990C>T	c.(4990-4992)Cgc>Tgc	p.R1664C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1664	Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity).		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1664C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGGCGTCGCGCCCATCCATG	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	17					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43574758	43574758	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:43574758G>A	ENST00000452443.2	-	8	1069	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	355					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCTGCCACCCGTTGTATCCTG	0.562000													3	6					0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154636798	154636798	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:154636798C>T	ENST00000274068.4	-	6	639	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	RNF175_ENST00000347063.4_Missense_Mutation_p.R216Q			Q8N4F7	RN175_HUMAN	ring finger protein 175	216						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTAGGCAACCGGCTGACACT	0.502000													10	18					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156499981	156499981	+	Silent	SNP	G	G	C			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:156499981G>C	ENST00000361170.2	-	34	4330	c.4320C>G	c.(4318-4320)gtC>gtG	p.V1440V		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1440					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTTCCGCAGGACGCGCCGCT	0.647000													6	11					0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48522793	48522793	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:48522793G>A	ENST00000422556.1	-	3	1275	c.926C>T	c.(925-927)cCg>cTg	p.P309L	SPATA2_ENST00000543716.1_Missense_Mutation_p.P172L|SPATA2_ENST00000289431.5_Missense_Mutation_p.P309L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	309					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AAGCACATCCGGGCTGCCGTG	0.637000													30	65					0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065256	49065256	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:49065256A>T	ENST00000326739.4	-	5	457	c.418T>A	c.(418-420)Tgc>Agc	p.C140S		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	140	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GGGATACCGCAGAAACCATGC	0.542000													15	43					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45817649	45817649	+	Missense_Mutation	SNP	C	C	T	rs149619816	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr21:45817649C>T	ENST00000397928.1	+	13	2397	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A651V|TRPM2_ENST00000300481.9_Missense_Mutation_p.A631V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A651V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	651						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCATCGCAGCGGCCTTGGCC	0.622000													7	17					0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4284902	4284902	+	Splice_Site	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr19:4284902G>A	ENST00000543264.2	+	4	2179		c.e4+1		SHD_ENST00000600475.1_Splice_Site|SHD_ENST00000599689.1_Splice_Site	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D											breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACAGCCGTGAGTGGGGA	0.587000													23	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179443857	179443857	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:179443857C>G	ENST00000589042.1	-	320	68124	c.67900G>C	c.(67900-67902)Gga>Cga	p.G22634R	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13569R|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13694R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20066R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20993R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13761R|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20993	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGATAGTTCCTTCCTTGGTG	0.443000													11	34					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13600828	13600828	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:13600828T>C	ENST00000040738.5	-	10	7831	c.7696A>G	c.(7696-7698)Agt>Ggt	p.S2566G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2566							DNA binding										TTGGTGGTACTGGTTTTCAAG	0.468000											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	11					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228461596	228461596	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:228461596G>A	ENST00000366707.4	+	0	5307				OBSCN_ENST00000284548.11_Missense_Mutation_p.D1755N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D2130N|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.D602N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D1755N			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCTCAAGGATGGTGTGGA	0.647000													8	9					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601169	138601169	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:138601169G>A	ENST00000251691.4	+	14	2495	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	777	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACCAGCGGCGTGCTGATGGT	0.547000													17	26					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45620175	45620175	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:45620175C>T	ENST00000263736.4	-	20	2669	c.2607G>A	c.(2605-2607)gaG>gaA	p.E869E	SRBD1_ENST00000535761.1_Silent_p.E388E|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	869					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTGCAATTTTCTCCATTCCTT	0.403000													26	40					0	0	1	0	0
FAIM	55179	broad.mit.edu	37	3	138341217	138341217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:138341217G>A	ENST00000338446.4	+	4	1084	c.401G>A	c.(400-402)tGg>tAg	p.W134*	FAIM_ENST00000393034.2_Nonsense_Mutation_p.W100*|FAIM_ENST00000464668.1_Nonsense_Mutation_p.W100*|FAIM_ENST00000360570.3_Nonsense_Mutation_p.W122*|FAIM_ENST00000393035.2_Nonsense_Mutation_p.W100*	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	100					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ACCAATACTTGGGTATTACAC	0.333000													14	24					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60895628	60895628	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:60895628C>T	ENST00000252999.3	-	50	6812	c.6746G>A	c.(6745-6747)cGg>cAg	p.R2249Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2249	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGCCTAGCCGCCGTGCGTC	0.687000													4	6					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522989	23522989	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr5:23522989T>A	ENST00000296682.3	+	8	1059	c.877T>A	c.(877-879)Tgg>Agg	p.W293R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	293	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGATACTCCTGGCTGGTAAG	0.493000										HNSCC(3;0.000094)			19	48					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123812513	123812513	+	Silent	SNP	C	C	T	rs35352264	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:123812513C>T	ENST00000223642.1	-	1	41	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	4					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AAAGTATTCCCAAAAGGCCCA	0.373000													19	44					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145636526	145636526	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:145636526G>A	ENST00000296575.3	+	10	2277	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	541						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCACTAGTGGGTCCTGTAGA	0.428000													15	33					0	0	1	0	0
B4GALT1	2683	broad.mit.edu	37	9	33135343	33135343	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:33135343G>A	ENST00000379731.4	-	2	678	c.492C>T	c.(490-492)ggC>ggT	p.G164G	B4GALT1_ENST00000535206.1_Silent_p.G164G	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	164					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CATAGCGGCCGCCCATCTTCA	0.557000													12	32					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr14:88652226G>A	ENST00000340700.5	-	7	1721	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	KCNK10_ENST00000312350.5_Missense_Mutation_p.R429C|KCNK10_ENST00000319231.5_Missense_Mutation_p.R429C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	424					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607000													19	39					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113770051	113770051	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr13:113770051C>T	ENST00000375581.3	+	6	543	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	F7_ENST00000346342.3_Missense_Mutation_p.R148C|F7_ENST00000541084.1_Missense_Mutation_p.R101C	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	170	EGF-like 2.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGCACCAAGCGCTCCTGTCG	0.617000													8	27					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373167	24373167	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:24373167C>T	ENST00000005284.3	+	4	2133	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	311					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R311C(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGCCAACAGGCGCACCACGCC	0.562000													13	41					0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54579018	54579018	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:54579018C>T	ENST00000064571.2	-	1	1510	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	70	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGAAGGCGACCTTGGAGTTGG	0.637000													36	104					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77064287	77064287	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:77064287C>T	ENST00000538941.2	-	10	1245	c.306G>A	c.(304-306)gtG>gtA	p.V102V	SCAPER_ENST00000324767.7_Silent_p.V348V|SCAPER_ENST00000563290.1_Silent_p.V348V	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	347						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CCAATGTACTCACTGTGAACT	0.338000													7	28					0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127892092	127892092	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:127892092C>T	ENST00000308868.4	+	2	72	c.21C>T	c.(19-21)tgC>tgT	p.C7C		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	7					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GAACCCTGTGCGGATTCTTGT	0.488000													19	87					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165389159	165389159	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:165389159G>A	ENST00000359842.5	-	3	692	c.390C>T	c.(388-390)agC>agT	p.S130S	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	130	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGATCCGGGGCTGGTGGATG	0.522000													12	37					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50325794	50325794	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:50325794C>T	ENST00000394697.2	+	4	863	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ADCY7_ENST00000537579.1_Missense_Mutation_p.R175W|ADCY7_ENST00000254235.3_Missense_Mutation_p.R175W|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.R175W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R175W			P51828	ADCY7_HUMAN	adenylate cyclase 7	175					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACCCAGTGTCCGGGTGGGGCT	0.652000													12	32					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967963	88967963	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:88967963G>A	ENST00000268679.4	-	2	649	c.253C>T	c.(253-255)Cct>Tct	p.P85S	CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P24S|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P24S|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P85S|CBFA2T3_ENST00000448839.1_Intron	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	85	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GATGCGGCAGGCGGTGGGGGC	0.701000			T	RUNX1	AML								16	35					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	G	A	rs139754746		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:71571179G>A	ENST00000395275.2	-	4	733	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_ENST00000329008.5_Silent_p.S73S|CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000405452.2_Silent_p.S73S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592000													10	33					0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753227	41753227	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:41753227C>T	ENST00000359201.5	+	5	1120	c.531C>T	c.(529-531)tgC>tgT	p.C177C	PRICKLE4_ENST00000458694.1_Silent_p.C177C|PRICKLE4_ENST00000394259.1_Silent_p.C137C|PRICKLE4_ENST00000394260.1_Silent_p.C137C|PRICKLE4_ENST00000394263.1_Silent_p.C177C			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	137	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACTCTACTGCGGCCGTCATC	0.622000													18	46					0	0	1	0	0
H3F3A	3020	broad.mit.edu	37	1	226252059	226252059	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:226252059C>T	ENST00000366814.3	+	2	128	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	H3F3A_ENST00000366816.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366815.3_Missense_Mutation_p.R3C|H3F3A_ENST00000366813.1_Missense_Mutation_p.R3C					H3 histone, family 3A									p.R3C(1)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		TACCATGGCTCGTACAAAGCA	0.498000			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			692	44					0	0	1	0	0
IGLV11-55	0	broad.mit.edu	37	22	22556480	22556480	+	RNA	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:22556480G>A	ENST00000390286.2	+	0	306																											GTAACACAGCGTTTTTGCTCA	0.527000													16	41					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21956473	21956473	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:21956473C>T	ENST00000406877.3	-	2	343	c.64G>A	c.(64-66)Gat>Aat	p.D22N	CDCA7L_ENST00000373934.4_Missense_Mutation_p.D22N|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	22					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCTTCATCATCACTGGGGGCG	0.463000													30	130					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133712	91133712	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463000													21	13					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	19					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38073447	38073447	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:38073447C>T	ENST00000394175.2	-	1	346	c.123G>A	c.(121-123)ggG>ggA	p.G41G	GSDMB_ENST00000360317.3_Silent_p.G41G|GSDMB_ENST00000309481.7_Silent_p.G41G|GSDMB_ENST00000520542.1_Silent_p.G41G|GSDMB_ENST00000394179.1_Silent_p.G41G|GSDMB_ENST00000418519.1_Silent_p.G41G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	41						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TTCTCTTCTCCCCCACCAGAT	0.483000													31	83					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121176335	121176335	+	Splice_Site	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:121176335G>A	ENST00000242592.4	+	7	946		c.e7-1		ACADS_ENST00000411593.2_Splice_Site	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain							mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GGTCCCCACAGCAAACCCTGG	0.682000													10	34					0	0	1	0	0
IFITM1	8519	broad.mit.edu	37	11	314978	314978	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr11:314978C>T	ENST00000408968.3	+	2	561	c.243C>T	c.(241-243)acC>acT	p.T81T	IFITM1_ENST00000328221.5_Silent_p.T81T|IFITM1_ENST00000528780.1_Silent_p.T81T	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	81					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCTCCACCGCCAAGTGCC	0.572000													16	51					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624228	89624228	+	Translation_Start_Site	SNP	T	T	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:89624228T>A	ENST00000371953.3	+	1	1359	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	1					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.M1fs*7(1)|p.M1fs*24(1)|p.M1T(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTCCCAGACATGACAGCCATC	0.507000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			11	19					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236744701	236744701	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:236744701T>A	ENST00000366582.3	-	20	2690	c.2576A>T	c.(2575-2577)gAt>gTt	p.D859V	HEATR1_ENST00000366581.2_Missense_Mutation_p.D859V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	859					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGAAAAACATCTTCTAGATG	0.328000													9	39					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8794082	8794082	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:8794082G>A	ENST00000447110.1	-	7	754	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PIK3R5_ENST00000581552.1_Silent_p.D210D|PIK3R5_ENST00000584803.1_Silent_p.D210D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	210					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCCGGGACGTCACAGTGGG	0.632000													3	13					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42907140	42907140	+	Silent	SNP	A	A	G			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:42907140A>G	ENST00000422265.1	+	3	1321	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	ACKR2_ENST00000442925.1_Silent_p.K382K|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.K382K|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TGGGGAATAAATCAGCCTGAG	0.502000													14	24					0	0	1	0	0
CRYBB2P1	0	broad.mit.edu	37	22	25855471	25855471	+	RNA	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:25855471C>T	ENST00000354451.2	+	0	355																											CTTTGGGGCCCGTCACCCTCA	0.627000													12	38					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462410	5462410	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:5462410G>A	ENST00000345221.3	-	4	2160	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	NLRP1_ENST00000269280.4_Missense_Mutation_p.R536W|NLRP1_ENST00000572272.1_Missense_Mutation_p.R536W|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.R536W|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536W|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536W	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	536	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTTCCTTCCGCTTCATCTGC	0.547000													28	70					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96181099	96181099	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:96181099G>A	ENST00000343702.4	-	2	651	c.203C>T	c.(202-204)aCg>aTg	p.T68M	NTN4_ENST00000344911.4_Missense_Mutation_p.T31M|NTN4_ENST00000553059.1_Missense_Mutation_p.T68M|NTN4_ENST00000538383.1_Missense_Mutation_p.T31M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	68	Laminin N-terminal.			T -> K (in Ref. 1; AAG30822).	axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGTCAGATCCGTGTTCTCACT	0.537000													11	39					0	0	1	0	0
PDK1	5163	broad.mit.edu	37	2	173431601	173431601	+	Missense_Mutation	SNP	A	A	T	rs148646668		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:173431601A>T	ENST00000410055.1	+	6	809	c.709A>T	c.(709-711)Agg>Tgg	p.R237W	PDK1_ENST00000392571.2_Missense_Mutation_p.R257W|PDK1_ENST00000282077.2_Missense_Mutation_p.R237W|PDK1_ENST00000544863.1_Missense_Mutation_p.R82W|PDK1_ENST00000543905.1_Missense_Mutation_p.R161W	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	237	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGAAAATGCTAGGCGTCTGTG	0.323000									Autosomal Dominant Polycystic Kidney Disease				3	16					0	0	1	0	0
SPATA31C1	0	broad.mit.edu	37	9	90535986	90535986	+	RNA	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:90535986G>A	ENST00000602681.1	+	0	1890																											GCCCTGCGTCGCAGAATAAAG	0.517000													52	158					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25835187	25835188	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:25835187_25835188delTA	ENST00000399878.3	-	4	986_987	c.864_865delTA	c.(862-867)ttctfs	p.FT288fs	SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.FT135fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.FT253fs|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	288						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AATGAAACAGTAAACCTATAAG	0.376													2	4	---	---	---	---					
RABEPK	10244	broad.mit.edu	37	9	127996226	127996226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:127996226delC	ENST00000373538.3	+	8	1396	c.1086delC	c.(1084-1086)atfs	p.I362fs	RABEPK_ENST00000259460.8_Frame_Shift_Del_p.I311fs|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Frame_Shift_Del_p.I362fs	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	362					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAGGGGAAATCTATGACGATT	0.388													32	90	---	---	---	---					
PLCE1	51196	broad.mit.edu	37	10	96053387	96053387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:96053387delT	ENST00000260766.3	+	23	5792	c.5158delT	c.(5158-5160)ctfs	p.S1720fs	PLCE1_ENST00000371380.2_Frame_Shift_Del_p.S1720fs|PLCE1_ENST00000371385.3_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.S1412fs	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1720	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAACAAAACATCTGGAAAAAG	0.388													11	25	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													3	4	---	---	---	---					
AC126365.1	0	broad.mit.edu	37	17	20623668	20623669	+	RNA	DEL	TT	TT	-	rs151078009		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:20623668_20623669delTT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaatttttttttttt	0.574													3	6	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													3	4	---	---	---	---					
LRRC37A11P	0	broad.mit.edu	37	17	37200857	37200857	+	RNA	DEL	A	A	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:37200857delA	ENST00000425901.2	+	0	2902					NR_033753.2																						ACTGCCAAAGAAAAAAAGGCT	0.592													2	4	---	---	---	---					
P2RX6	9127	broad.mit.edu	37	22	21380124	21380124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:21380124delT	ENST00000413302.2	+	9	1069	c.921delT	c.(919-921)ggfs	p.G307fs	P2RX6_ENST00000401443.1_Frame_Shift_Del_p.G281fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.G297fs|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.G254fs			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	307					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGCAACCGGGTGTGGAGGCCC	0.657													2	4	---	---	---	---