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
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													10	431					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958147	47958147	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:47958147C>T	ENST00000426837.2	-	8	1308	c.1221G>A	c.(1219-1221)ttG>ttA	p.L407L	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000360240.6_Silent_p.L390L			P27816	MAP4_HUMAN	microtubule-associated protein 4	390	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.L390L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGAAGGAGCCAAGTCCATTT	0.448000													6	620					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													8	311					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353000													7	1230					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552086	178552086	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:178552086T>G	ENST00000251582.7	-	19	2947	c.2846A>C	c.(2845-2847)aAc>aCc	p.N949T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	949	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGGGTGGTGTTGTCGTGTAG	0.697000													7	815					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9506122	9506122	+	Silent	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:9506122A>G	ENST00000402466.1	+	19	2964	c.2196A>G	c.(2194-2196)ccA>ccG	p.P732P	SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Silent_p.P830P|SETD5_ENST00000302463.6_Silent_p.P732P|SETD5_ENST00000407969.1_Silent_p.P849P|SETD5_ENST00000406341.1_Silent_p.P830P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	830										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGTTGAGCCCATTAAAGAAAT	0.428000													197	635					0	0	1	0	0
RAB39A	54734	broad.mit.edu	37	11	107832736	107832736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:107832736C>T	ENST00000320578.2	+	2	358	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	98					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										CATTACTAACCGACGATCTTT	0.348000													15	301					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110256173	110256173	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:110256173G>A	ENST00000369813.1	+	2	1027	c.122G>A	c.(121-123)cGc>cAc	p.R41H	GSTM5_ENST00000369812.5_Missense_Mutation_p.R101H|GSTM5_ENST00000256593.3_Missense_Mutation_p.R82H|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	82	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TACATTGCCCGCAAGCACAAC	0.557000													7	838					0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75775747	75775747	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:75775747T>G	ENST00000376911.1	+	5	1295	c.413T>G	c.(412-414)aTt>aGt	p.I138S	ANXA1_ENST00000257497.6_Missense_Mutation_p.I138S			P04083	ANXA1_HUMAN	annexin A1	138					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GATACTCTAATTGAGATTTTG	0.358000													186	629					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													4	180					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88534264	88534264	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:88534264G>A	ENST00000399271.1	+	4	1046	c.926G>A	c.(925-927)gGc>gAc	p.G309D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G309D	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	309					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GACCCTGAAGGCAAAGAAGAT	0.438000													4	132					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104187759	104187759	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:104187759G>A	ENST00000374855.4	-	7	899	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	259					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGAACAGTACGGTGGAGAGCT	0.507000													72	246					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94803623	94803623	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:94803623G>A	ENST00000358746.2	-	42	4865	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1523							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGGTACCAACGTGCAGTTGAT	0.358000													14	201					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													6	272					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922079	43922079	+	Silent	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:43922079G>T	ENST00000602198.1	+	7	937	c.495G>T	c.(493-495)ggG>ggT	p.G165G	TEX101_ENST00000598265.1_Silent_p.G147G|TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	147						anchored to membrane|plasma membrane		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493000													7	660					0.27861	0.27861	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	301					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224912	248224912	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:248224912G>T	ENST00000359959.3	+	1	929	c.929G>T	c.(928-930)gGg>gTg	p.G310V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATCTGCTCTGGGAAAATGTAG	0.438000													5	238					0.000602214	0.000610352	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160098496	160098496	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160098496A>G	ENST00000361216.3	+	9	1161	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	358					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGGTGAAGAACCTGGAGGC	0.587000													10	393					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622000													4	193					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253123	124253123	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:124253123C>T	ENST00000375013.2	-	1	135	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTTGCCTACCATGGTGACAA	0.418000													36	730					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87069091	87069091	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:87069091G>A	ENST00000265723.4	-	14	1734	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	ABCB4_ENST00000453593.1_Silent_p.I541I|ABCB4_ENST00000545634.1_Silent_p.I541I|ABCB4_ENST00000358400.3_Silent_p.I541I|ABCB4_ENST00000359206.3_Silent_p.I541I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	541	ABC transporter 1.		I -> F (in PFIC3).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTGCAATGGCGATCCTCTGCT	0.532000													6	396					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68233050	68233050	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:68233050C>T	ENST00000347230.4	-	32	6043	c.5905G>A	c.(5905-5907)Gag>Aag	p.E1969K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1969K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1969					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCATCCACCTCTGGGTTGGTG	0.577000													113	378					0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562000													7	1081					0	0	1	0	0
RPS12	6206	broad.mit.edu	37	6	133138134	133138134	+	Silent	SNP	C	C	G	rs146638149		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:133138134C>G	ENST00000230050.3	+	5	480	c.270C>G	c.(268-270)ggC>ggG	p.G90G		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	90					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AATGGGTAGGCCTTTGTAAAA	0.358000													4	195					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													5	135					0	0	1	0	0
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682000													12	45					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141292025	141292025	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:141292025A>G	ENST00000286364.3	+	13	1356	c.1321A>G	c.(1321-1323)Att>Gtt	p.I441V	RASA2_ENST00000452898.1_Missense_Mutation_p.I441V			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	441	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AATCGATCCTATTAAATTGAA	0.264000													54	211					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	303					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													8	258					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	139					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935540	30935540	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:30935540G>A	ENST00000355537.3	+	2	1218	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCCAGGCGTGGTTCCTCA	0.652000													165	607					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:22940373T>C	ENST00000397104.3	-	5	2064	c.2065A>G	c.(2065-2067)Aag>Gag	p.K689E	ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E					zinc finger protein 99									p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343000													4	323					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													5	25					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845741	176845741	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:176845741C>T	ENST00000367654.2	-	21	3432	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132Q			O14525	ASTN1_HUMAN	astrotactin 1	1140	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.R1132L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTGGAGCGCCGTCCTGTGTT	0.572000													43	141					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287859	46287859	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:46287859C>T	ENST00000378966.3	+	2	1007	c.591C>T	c.(589-591)caC>caT	p.H197H	SPERT_ENST00000310521.1_Silent_p.H233H			Q8NA61	SPERT_HUMAN	spermatid associated	233						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGAAGGACCACGTCGCCCTGC	0.682000													29	141					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42362977	42362977	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:42362977G>A	ENST00000290472.3	-	18	2075	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	661	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGCCTGGCCGGAACATGGAG	0.657000													15	30					0	0	1	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389124	39389124	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:39389124A>G	ENST00000411528.2	+	1	410	c.371A>G	c.(370-372)aAc>aGc	p.N124S		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	124	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGTGGCTCCAACTGCTGCCAG	0.597000													5	540					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120006	38120006	+	Silent	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:38120006T>C	ENST00000406386.3	+	7	1698	c.1443T>C	c.(1441-1443)tgT>tgC	p.C481C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	481					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C481C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGTGCCCAGCGGG	0.592000													7	388					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362807	55362807	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:55362807G>A	ENST00000290552.7	+	5	2249	c.917G>A	c.(916-918)cGc>cAc	p.R306H	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGATTGGAGCGCAGGGAGTGC	0.662000													75	269					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939687	6939687	+	RNA	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:6939687G>A	ENST00000251761.8	+	0	855				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						ATGGGGCTGCGAGCCAGGGGG	0.642000													6	54					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	rs113949888		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:27324303C>T	ENST00000402394.1	-	6	1064	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000452318.2_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	258					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687000													6	732					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													6	443					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:47958144A>G	ENST00000426837.2	-	8	1311	c.1224T>C	c.(1222-1224)gcT>gcC	p.A408A	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000360240.6_Silent_p.A391A			P27816	MAP4_HUMAN	microtubule-associated protein 4	391	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.A391A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTGGAAGGAGCCAAGTCCA	0.443000													7	607					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49079301	49079301	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:49079301C>T	ENST00000323090.4	+	1	505	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	SULT2B1_ENST00000201586.2_Missense_Mutation_p.R59W	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	59					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCAAGATGTGCGGGACGACGA	0.632000													116	377					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13621266	13621266	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr18:13621266C>T	ENST00000361205.4	+	5	1000	c.332C>T	c.(331-333)cCg>cTg	p.P111L	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P74L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P34L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P111L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P74L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P111L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		GACGGGCTGCCGCAGGTGAGT	0.632000													50	188					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30749115	30749115	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:30749115G>A	ENST00000217315.5	+	17	2015	c.1675G>A	c.(1675-1677)Ggg>Agg	p.G559R	TM9SF4_ENST00000398022.2_Missense_Mutation_p.G576R			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	576						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTAGTCTCCGGGGGCTCTGC	0.502000													6	331					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33572565	33572565	+	Missense_Mutation	SNP	C	C	T	rs144093447		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:33572565C>T	ENST00000404816.2	+	26	4341	c.3988C>T	c.(3988-3990)Cgg>Tgg	p.R1330W	LTBP1_ENST00000272273.5_Missense_Mutation_p.R228W|LTBP1_ENST00000418533.2_Missense_Mutation_p.R962W|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1005W|LTBP1_ENST00000402934.1_Missense_Mutation_p.R951W|LTBP1_ENST00000404525.1_Missense_Mutation_p.R951W|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1331W|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1004W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1330					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.R1331R(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGCCGCTCCCGGACCTCCAC	0.557000													7	332					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													5	216					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388000													9	1283					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502000													8	1284					0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100369	27100369	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:27100369C>T	ENST00000607124.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	p.G54D(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GGACGAAATGCCGGTGTCAGG	0.547000													7	904					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17740096	17740096	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:17740096G>C	ENST00000375436.4	-	9	1331	c.1144C>G	c.(1144-1146)Cct>Gct	p.P382A	RCC2_ENST00000375433.3_Missense_Mutation_p.P382A	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	382					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CCACGCCCAGGGAAGTCAAAC	0.582000													6	499					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39016037	39016037	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:39016037G>A	ENST00000355481.4	+	70	10637	c.10506G>A	c.(10504-10506)acG>acA	p.T3502T	RYR1_ENST00000359596.3_Silent_p.T3507T|RYR1_ENST00000360985.3_Silent_p.T3507T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3507					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGTGCAGACGTCACTGATCG	0.627000													87	264					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155430	106155430	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:106155430A>T	ENST00000513237.1	+	3	1191	c.394A>T	c.(394-396)Aaa>Taa	p.K132*	TET2_ENST00000380013.4_Nonsense_Mutation_p.K111*|TET2_ENST00000545826.1_Nonsense_Mutation_p.K111*|TET2_ENST00000394764.1_Nonsense_Mutation_p.K111*|TET2_ENST00000305737.2_Nonsense_Mutation_p.K111*|TET2_ENST00000413648.2_Nonsense_Mutation_p.K111*|TET2_ENST00000540549.1_Nonsense_Mutation_p.K111*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	111					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L107fs*8(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCAGATCAAGAAATTGAAACA	0.413000			"""Mis N, F"""		MDS								6	243					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647110	81647110	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:81647110G>A	ENST00000548058.1	+	14	2654	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	ACSS3_ENST00000261206.3_Missense_Mutation_p.A581T|ACSS3_ENST00000548324.1_Missense_Mutation_p.A264T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	582						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGTACCGTGGCAGACTGTGC	0.373000													138	527					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148427298	148427298	+	Silent	SNP	C	C	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:148427298C>A	ENST00000325222.4	+	2	363	c.84C>A	c.(82-84)atC>atA	p.I28I	CUL1_ENST00000602748.1_Silent_p.I28I|CUL1_ENST00000409469.1_Silent_p.I28I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGCCGGCATCCAGCAGGTGT	0.547000													21	373					6.44725e-10	6.66957e-10	1	1	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130649855	130649855	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:130649855C>T	ENST00000373146.1	-	6	899	c.720G>A	c.(718-720)tcG>tcA	p.S240S	ST6GALNAC6_ENST00000542456.1_Silent_p.S40S|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Silent_p.S206S|ST6GALNAC6_ENST00000373144.3_Silent_p.S206S|ST6GALNAC6_ENST00000291839.5_Silent_p.S240S|ST6GALNAC6_ENST00000373142.1_Silent_p.S240S			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	240					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCTCAACCACGAATGAGACT	0.597000													31	100					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000													5	92					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													18	205					0	0	1	0	0
NBPF15	284565	broad.mit.edu	37	1	148594544	148594544	+	Silent	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:148594544T>C	ENST00000442702.2	+	21	2984	c.1917T>C	c.(1915-1917)caT>caC	p.H639H	NBPF15_ENST00000369187.3_Silent_p.H639H	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	639	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGGAAGAGCATATCAGCTTCG	0.433000													9	1178					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507071	74507071	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:74507071C>T	ENST00000354431.4	-	7	1735	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R515H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	515								p.R515H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AACTAATAAACGCTCTGAAGC	0.363000													108	489					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007605	110007605	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:110007605C>T	ENST00000453089.2	+	1	1027	c.146C>T	c.(145-147)gCg>gTg	p.A49V	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A81V|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A80V			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	80							endonuclease activity|nucleic acid binding|zinc ion binding	p.A80V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAAAAGAGGCGTCTGAAGAG	0.448000													27	110					0	0	1	0	0
FAM169B	283777	broad.mit.edu	37	15	98995216	98995216	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:98995216C>T	ENST00000558256.1	-	5	457	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	FAM169B_ENST00000332908.4_Missense_Mutation_p.G70S	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	70										large_intestine(3)|lung(3)|urinary_tract(1)	7						TAGCATGCACCGGTGCCATCA	0.592000													38	119					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133150166	133150166	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:133150166C>T	ENST00000388996.4	-	12	2086	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	KCNQ3_ENST00000521134.1_Missense_Mutation_p.D436N|KCNQ3_ENST00000519445.1_Missense_Mutation_p.D556N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	556					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAAAGCATGTCGAGATGCCCG	0.453000													186	588					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769239	57769239	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:57769239G>A	ENST00000371030.2	+	1	3165	c.3165G>A	c.(3163-3165)ccG>ccA	p.P1055P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1055						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCCTCCCCGCCCACTCCAA	0.647000													8	91					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408000													13	524					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47193872	47193872	+	Silent	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:47193872T>C	ENST00000433867.1	-	14	2271	c.1794A>G	c.(1792-1794)gaA>gaG	p.E598E	PRKD2_ENST00000601806.1_Silent_p.E441E|PRKD2_ENST00000600194.1_Silent_p.E441E|PRKD2_ENST00000595515.1_Silent_p.E598E|PRKD2_ENST00000291281.4_Silent_p.E598E	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	598	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAATGGCCACTTCATTCCGGA	0.577000													63	308					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483165	59483165	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr18:59483165C>T	ENST00000312828.3	-	2	1631	c.532G>A	c.(532-534)Gtc>Atc	p.V178I		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	178					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AAGACCAAGACGCAAGCCACC	0.592000													86	243					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900472	13900472	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:13900472G>A	ENST00000265104.4	-	15	2206	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	701	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCTGTGCCTGGAGCCTTCAC	0.413000									Kartagener syndrome				67	239					0	0	1	0	0
PSTK	118672	broad.mit.edu	37	10	124746879	124746879	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:124746879T>C	ENST00000368887.3	+	6	1347	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L	PSTK_ENST00000405485.1_3'UTR|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	303							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		agagatgacatttaagcaaag	0.423000													4	134					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275677	71275677	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:71275677G>A	ENST00000399575.2	+	3	806	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	211	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCGCCAACCGTCCTCACACA	0.448000													6	407					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													12	108					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110922260	110922260	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:110922260C>T	ENST00000316534.4	-	8	849	c.776G>A	c.(775-777)gGc>gAc	p.G259D	NPHP1_ENST00000393272.3_Missense_Mutation_p.G259D|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	259					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ACAGAAGATGCCCGCCTCTGA	0.458000													6	638					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347047	71347047	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:71347047T>C	ENST00000413702.1	+	4	874	c.586T>C	c.(586-588)Tct>Cct	p.S196P	MUC7_ENST00000304887.5_Missense_Mutation_p.S196P|MUC7_ENST00000456088.1_Missense_Mutation_p.S196P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	196	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.587000													8	579					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1426896	1426896	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:1426896G>T	ENST00000345913.4	+	3	265	c.174G>T	c.(172-174)atG>atT	p.M58I	TPO_ENST00000337415.3_Missense_Mutation_p.M58I|TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000329066.4_Missense_Mutation_p.M58I|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000382201.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	58					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGCCACGATGCAGAGGTGAG	0.597000													30	117					3.99451e-17	4.21955e-17	1	1	0
DRD5	0	broad.mit.edu	37	4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGCTGGTCATGCCCTGGAAGG	0.637000													7	206					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960785	116960785	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:116960785C>A	ENST00000265441.3	-	2	445	c.146G>T	c.(145-147)aGc>aTc	p.S49I	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	49					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCGCTGGCTGCTCACCAGGCC	0.592000													18	73					1.85244e-09	1.90319e-09	1	1	0
SLC25A33	84275	broad.mit.edu	37	1	9642431	9642431	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:9642431C>T	ENST00000302692.6	+	7	1048	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	280					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGTGTTCCGGGAAGAAGG	0.488000													4	230					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:53855452A>G	ENST00000458035.1	+	4	1641	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000595091.1_Silent_p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388000													8	284					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs147500263	by1000genomes	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:22545865G>C	ENST00000424340.1	+	7	1840	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCAGCTCACTGCCCTTCCACC	0.567000													8	1086					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276130	186276130	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:186276130T>C	ENST00000445192.2	+	7	1324	c.1279T>C	c.(1279-1281)Tct>Cct	p.S427P	PRG4_ENST00000367485.4_Missense_Mutation_p.S334P|PRG4_ENST00000367486.3_Missense_Mutation_p.S384P|PRG4_ENST00000367483.4_Missense_Mutation_p.S386P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	427	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.S427P(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACCAAGTCTGCACCCAC	0.657000													8	418					0	0	1	0	0
IGHV4-34	0	broad.mit.edu	37	14	106829621	106829621	+	RNA	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:106829621C>T	ENST00000390616.2	-	0	372																											CAGCCGTGTCCGCGGCGGTCA	0.587000													12	1134					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552090	178552090	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:178552090C>T	ENST00000251582.7	-	19	2943	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	948	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGTGTTGTCGTGTAGCGGC	0.692000													9	833					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350772	79350772	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:79350772G>T	ENST00000419573.3	-	3	709	c.435C>A	c.(433-435)caC>caA	p.H145Q	RASGRF1_ENST00000558480.2_Missense_Mutation_p.H145Q|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	145					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTGCAGCAGGTGCAGGTATT	0.562000													37	257					8.73648e-17	9.16414e-17	1	1	0
OMD	4958	broad.mit.edu	37	9	95179346	95179346	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:95179346T>A	ENST00000375550.4	-	2	770	c.495A>T	c.(493-495)gaA>gaT	p.E165D	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	165					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GAAGGAGTCTTTCCAGAGATT	0.353000			T	USP6	aneurysmal bone cysts								86	296					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239387	5239387	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:5239387C>T	ENST00000274181.7	+	15	2416	c.2278_splice	c.e15+1	p.Q760_splice		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	760	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCACACCAACCGTGAGTACTT	0.512000													101	338					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	162					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			62	145					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488000													6	719					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													14	267					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													8	1443					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412073	50412073	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:50412073G>A	ENST00000596217.1	-	2	2879	c.992C>T	c.(991-993)gCg>gTg	p.A331V	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.A331V|NUP62_ENST00000422090.2_Missense_Mutation_p.A331V|NUP62_ENST00000413454.1_Missense_Mutation_p.A331V|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.A331V			P37198	NUP62_HUMAN	nucleoporin 62kDa	331	Ala-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTCCAGCTGCGCGTAGGTCAT	0.682000													93	398					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	154					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180308122	180308122	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:180308122G>A	ENST00000410066.1	-	10	1874	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	ZNF385B_ENST00000336917.5_Missense_Mutation_p.A322V|ZNF385B_ENST00000409343.1_Missense_Mutation_p.A348V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A322V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	424						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACGGCTGCCGCCGCTGCGAG	0.607000													18	68					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74743165	74743165	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:74743165C>A	ENST00000567435.1	-	6	971	c.508G>T	c.(508-510)Gct>Tct	p.A170S	UBL7_ENST00000565335.1_Missense_Mutation_p.A170S|UBL7_ENST00000361351.4_Missense_Mutation_p.A170S|UBL7_ENST00000564488.1_Missense_Mutation_p.A170S|UBL7_ENST00000395081.2_Missense_Mutation_p.A170S			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	170							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTGGGATCAGCGAAGACAGAG	0.502000													14	347					9.16793e-09	9.35503e-09	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158686997	158686997	+	Silent	SNP	C	C	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:158686997C>G	ENST00000368146.1	-	1	956	c.957G>C	c.(955-957)ctG>ctC	p.L319L	OR6K3_ENST00000368145.1_Silent_p.L303L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAAGACAGAACAGTTTTTTAA	0.388000													6	628					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TCTCTCCCAGGACAGGCACAA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			41	74					0	0	1	0	0
SPATA31D5P	0	broad.mit.edu	37	9	84534436	84534436	+	RNA	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:84534436G>A	ENST00000527857.1	+	0	4458					NR_026851.1																						GGCTATCCCCGCAACTACACA	0.502000													4	129					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119801	38119801	+	Missense_Mutation	SNP	A	A	G	rs71317064		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:38119801A>G	ENST00000406386.3	+	7	1493	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	413					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.K413R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCCCAAAGCCTCCAGA	0.582000													6	380					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148055040	148055040	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:148055040G>A	ENST00000370460.2	+	16	3786	c.3307G>A	c.(3307-3309)Gcc>Acc	p.A1103T	AFF2_ENST00000370457.5_Missense_Mutation_p.A1068T|AFF2_ENST00000286437.5_Missense_Mutation_p.A744T|AFF2_ENST00000342251.3_Missense_Mutation_p.A1070T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1103					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.A1103T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGATGCCGCCCTCTCCTT	0.468000													106	301					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100325	8100325	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:8100325G>A	ENST00000379328.3	+	3	867	c.299G>A	c.(298-300)gGc>gAc	p.G100D	GATA3_ENST00000346208.3_Missense_Mutation_p.G100D	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	100					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTGGACGGCGGCAAAGCCCTG	0.677000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						5	440					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15554529	15554529	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:15554529G>A	ENST00000357607.2	+	13	1389	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	BMX_ENST00000348343.6_Missense_Mutation_p.D401N|BMX_ENST00000342014.6_Missense_Mutation_p.D401N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	401					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CAAGGTCCCCGACTCTGTGTC	0.408000													125	309					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249506	7249506	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:7249506C>T	ENST00000266542.4	-	6	1037	c.945G>A	c.(943-945)ggG>ggA	p.G315G	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	315	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGGTGGTTCCCCAGTTTCA	0.552000													9	458					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1857468	1857468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:1857468C>T	ENST00000518288.1	+	19	2210	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H659Y|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H684Y|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H621Y|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.H684Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	684					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAGCCCCTCTCATGACAGCCG	0.502000													187	482					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	701015	701015	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:701015G>A	ENST00000549091.1	+	6	672	c.580G>A	c.(580-582)Gca>Aca	p.A194T	WDR90_ENST00000293879.4_Missense_Mutation_p.A194T	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	194										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCAGTGGGCAAAGCTGCC	0.607000													6	489					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249545	71249545	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607000													7	1182					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160151577	160151577	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160151577G>A	ENST00000368081.4	+	19	3311	c.2840G>A	c.(2839-2841)cGc>cAc	p.R947H	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.R83H	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	947					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGACTCGCCGCAACTCACTT	0.527000													7	445					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78039368	78039368	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:78039368C>T	ENST00000397545.4	+	10	1552	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	CCDC40_ENST00000374877.3_Missense_Mutation_p.R509C|CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.R509C	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	509					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.R509G(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATGAAGCACCGCGACGAGGC	0.692000													24	345					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292829	102292829	+	RNA	SNP	C	C	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:102292829C>G	ENST00000561463.1	+	0	875																		p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597000													3	63					0	0	1	0	0
TUBA4B	0	broad.mit.edu	37	2	220136561	220136561	+	RNA	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:220136561C>T	ENST00000490341.1	+	0	1031					NR_003063.1																						GCCCCACAGGCTTTAAGGTTG	0.527000													45	137					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128572	161128572	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:161128572C>T	ENST00000523217.1	+	9	1367	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	GABRA6_ENST00000274545.5_Silent_p.S385S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	385					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.S385S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTCATCTTCCGAGGCCAATA	0.453000										TCGA Ovarian(5;0.080)			92	317					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123813705	123813705	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:123813705C>G	ENST00000360013.3	+	1	148	c.21C>G	c.(19-21)gaC>gaG	p.D7E	KALRN_ENST00000240874.3_Missense_Mutation_p.D7E|KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000460856.1_Missense_Mutation_p.D7E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	7					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTTCTGGGACCAGTGGTATC	0.557000													46	163					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:98658520C>T	ENST00000261574.5	+	17	1868	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000493492.2_3'UTR	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	545					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378000													5	535					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-	rs141981296	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gcc>g	p.AT218del	AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	218	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635													9	108	---	---	---	---					
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	466	---	---	---	---					
TCEB3	6924	broad.mit.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:24078404delA	ENST00000418390.2	+	4	1658	c.1387delA	c.(1387-1389)aafs	p.K464fs		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	464					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	837	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636587	36636587	+	Frame_Shift_Del	DEL	C	C	-	rs145462639		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:36636587delC	ENST00000316156.4	+	2	515	c.62delC	c.(61-63)acfs	p.T21fs	MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.T21fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.T21fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	21	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GTCGCCAGGACCCCCCCAGAG	0.612													7	393	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													10	710	---	---	---	---					
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)agt>a	p.IS84del	NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTGAAAATACTTATTATTATTAT	0.305													7	319	---	---	---	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	37					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													8	174	---	---	---	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:92447228_92447230delAGC	ENST00000370389.2	+	12	2623_2625	c.1699_1701delAGC	c.(1699-1701)del	p.S575del	BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419													9	455	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				7	383	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044104	161044106	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:161044104_161044106delCCA	ENST00000368012.3	-	6	1360_1362	c.1058_1060delTGG	c.(1057-1062)ggt>g	p.VG353del	PVRL4_ENST00000453926.2_In_Frame_Del_p.VG87del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	353					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGATCACACCCACCACCACCAC	0.606													7	556	---	---	---	---					
PRG4	10216	broad.mit.edu	37	1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)acc>a	p.TP431del	PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del|PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	431	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.655													10	546	---	---	---	---					
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576													7	385	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638648	102638649	+	Splice_Site	INS	-	-	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:102638648_102638649insA	ENST00000332549.3	+	6	917_918		c.e6-1		IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATCTTTCTCAGAAAAAAAAGAA	0.441													11	858	---	---	---	---					
FKBP7	51661	broad.mit.edu	37	2	179343217	179343217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:179343217delT	ENST00000424785.2	-	1	68	c.10delA	c.(10-12)ccfs	p.T4fs	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	4					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AAATGCATGGTTTTTGGCATC	0.522													8	1262	---	---	---	---					
IKZF2	22807	broad.mit.edu	37	2	214012392	214012393	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:214012392_214012393delAC	ENST00000442445.1	-	3	253_254	c.196_197delGT	c.(196-198)cfs	p.V66fs	IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000457361.1_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTGGAGAGACACACACACAC	0.401													8	352	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													8	280	---	---	---	---					
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:234394236_234394237insT	ENST00000251722.6	-	30	3558_3559	c.3441_3442insA	c.(3439-3444)aaaagafs	p.R1148fs	USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337													7	245	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atc>a	p.IL15del		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	15					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													8	395	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723322	49723327	+	In_Frame_Del	DEL	GCGCTG	GCGCTG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:49723322_49723327delGCGCTG	ENST00000449682.2	-	10	1577_1582	c.1216_1221delCAGCGC	c.(1216-1221)del	p.QR406del	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	392	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704													15	908	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													11	1042	---	---	---	---					
ATP13A3	79572	broad.mit.edu	37	3	194147850	194147850	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:194147850delA	ENST00000439040.1	-	29	3870	c.3079delT	c.(3079-3081)ggfs	p.W1027fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.W1027fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1027					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGTTTGACCCAAAAAAAACCC	0.383													8	349	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389392	1389393	+	Frame_Shift_Del	DEL	CA	CA	-	rs34525526		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:1389392_1389393delCA	ENST00000324803.4	+	1	4053_4054	c.1093_1094delCA	c.(1093-1095)cfs	p.H365fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	365					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACACGTGCC	0.658													18	1635	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aagatgfs	p.M75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													9	286	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaa>a	p.KE85del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	85					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													10	585	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190876218	190876219	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:190876218_190876219insAT	ENST00000226798.4	+	5	566_567	c.344_345insAT	c.(343-345)atafs	p.I115fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	115					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGCTATGGAAAATATCTTGGTA	0.361													8	431	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													10	1039	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													8	22	---	---	---	---					
LRRC73	221424	broad.mit.edu	37	6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:43475289_43475291delTCC	ENST00000372441.1	-	5	1683_1685	c.783_785delGGA	c.(781-786)gaa>ga	p.EE261del		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631													7	280	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													7	1055	---	---	---	---					
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:89975427_89975429delAAG	ENST00000402938.3	-	7	925_927	c.792_794delCTT	c.(790-795)ttg>tt	p.FL264del	GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	289					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			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGTTTGGAGCAAGAAGAAGAAGA	0.517													7	325	---	---	---	---					
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agt>ag	p.SS745del	EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525193.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562													7	287	---	---	---	---					
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)tfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431													7	360	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:39379288_39379290delCAG	ENST00000518318.2	+	5	601_603	c.559_561delCAG	c.(559-561)del	p.Q196del	POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													7	104	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72685489	72685489	+	RNA	DEL	A	A	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:72685489delA	ENST00000425256.1	-	0	120					NR_002164.1																						actccatctcaaaaaaaaaaa	0.443													8	143	---	---	---	---					
PTCD1	26024	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)del	p.E87del	ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1									p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606													8	606	---	---	---	---					
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	-	T	rs34047276		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:6378797_6378798insT	ENST00000325203.5	-	4	1174_1175	c.700_701insA	c.(700-702)agtfs	p.S234fs	ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs			O15123	ANGP2_HUMAN	angiopoietin 2	234					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366													9	375	---	---	---	---					
RGS22	26166	broad.mit.edu	37	8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T	rs7841915	by1000genomes	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aatggcfs	p.NG1162fs	RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1162					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312													7	412	---	---	---	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:128750605_128750607delCAG	ENST00000377970.2	+	2	652_654	c.142_144delCAG	c.(142-144)del	p.Q52del	MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	779	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	145006627	145006629	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:145006627_145006629delCCT	ENST00000322810.4	-	16	2496_2498	c.2327_2329delAGG	c.(2326-2331)gtg>g	p.EV776del	PLEC_ENST00000527096.1_In_Frame_Del_p.EV662del|PLEC_ENST00000398774.2_In_Frame_Del_p.EV607del|PLEC_ENST00000357649.2_In_Frame_Del_p.EV643del|PLEC_ENST00000356346.3_In_Frame_Del_p.EV625del|PLEC_ENST00000436759.2_In_Frame_Del_p.EV666del|PLEC_ENST00000345136.3_In_Frame_Del_p.EV639del|PLEC_ENST00000354589.3_In_Frame_Del_p.EV639del|PLEC_ENST00000354958.2_In_Frame_Del_p.EV617del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	776	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGAAGCCCACCTCCTCCTCCTC	0.621													10	844	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	118004	118005	+	In_Frame_Ins	INS	-	-	CCTCGTCTTCCA			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:118004_118005insCCTCGTCTTCCA	ENST00000382500.2	-	1	412_413	c.115_116insTGGAAGACGAGG	c.(115-117)gga>TGGAAGACGAGGgga	p.38_39insWKTR		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	38					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCCGCCTCCTCCTCGTCTTCA	0.668													13	366	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974695	21974695	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:21974695delG	ENST00000304494.5	-	1	402	c.132delC	c.(130-132)tafs	p.Y44fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Y44fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Y44fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Y44fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.G45del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCGACCGTAACTATTCG	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			156	379	---	---	---	---					
TSC1	0	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:135771988_135771990delGCT	ENST00000298552.3	-	23	3348_3350	c.3127_3129delAGC	c.(3127-3129)del	p.S1043del	TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del|TSC1_ENST00000545250.1_In_Frame_Del_p.S992del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1043	Poly-Ser.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.S1043N(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.640			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				7	240	---	---	---	---					
GTF3C5	9328	broad.mit.edu	37	9	135933278	135933280	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:135933278_135933280delGAG	ENST00000372097.5	+	11	1794_1796	c.1471_1473delGAG	c.(1471-1473)del	p.E499del	GTF3C5_ENST00000342018.8_In_Frame_Del_p.E437del|GTF3C5_ENST00000372108.5_In_Frame_Del_p.E506del|GTF3C5_ENST00000372099.6_In_Frame_Del_p.E490del	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	499	Glu-rich.|Poly-Glu.					transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		cgaggaggatgaggaggaggagg	0.581													8	287	---	---	---	---					
GPRIN2	9721	broad.mit.edu	37	10	46999606	46999607	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:46999606_46999607insGA	ENST00000374314.4	+	1	1681_1682	c.726_727insGA	c.(724-729)agctggfs	p.SW242fs	GPRIN2_ENST00000374317.1_Frame_Shift_Ins_p.SW242fs			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	242			R -> G (in dbSNP:rs3127683).	VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672).						breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGGAGGTGAGGGCTGGTGGCTG	0.634													8	487	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	CCT	-	rs4253047	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:50732139_50732141delCCT	ENST00000355832.5	-	5	1413_1415	c.1335_1337delAGG	c.(1333-1338)ggt>gg	p.GG445del	ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	445	Gly-rich.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					7	484	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12315169	12315170	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:12315169_12315170insC	ENST00000256186.2	+	3	482_483	c.191_192insC	c.(190-192)attfs	p.I64fs		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	64	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCCACCCCAAACTTTCGGAGGC	0.535													10	977	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61539013	61539013	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:61539013delC	ENST00000278836.5	+	6	878	c.782delC	c.(781-783)tcfs	p.S261fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Del_p.S252fs	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.S255fs*74(1)									CACTCTGAATCCCCCCCCAGC	0.637													7	683	---	---	---	---					
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302													11	214	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85437269	85437269	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:85437269delT	ENST00000359152.5	-	1	1802	c.1803delA	c.(1801-1803)aafs	p.K601fs	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	113	Ser-rich.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGCCATAACTTTTTTTGGGC	0.373													7	631	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs34562444		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.230													4	7	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													16	1598	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57569722	57569723	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:57569722_57569723insC	ENST00000243077.3	+	24	4290_4291	c.3824_3825insC	c.(3823-3825)acgfs	p.T1275fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1275					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATTTTCTCCAACCGCCATGAAA	0.609											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	820	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													7	554	---	---	---	---					
RP11-394A14.2	0	broad.mit.edu	37	13	64407210	64407211	+	RNA	INS	-	-	TACTGTCAG			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366													16	599	---	---	---	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:45642288_45642289delCT	ENST00000267430.5	+	13	2276_2277	c.2191_2192delCT	c.(2191-2193)cfs	p.L731fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	731					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	419	---	---	---	---					
DLGAP5	9787	broad.mit.edu	37	14	55646352	55646353	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:55646352_55646353insG	ENST00000247191.2	-	7	984_985	c.768_769insC	c.(766-771)ccacaafs	p.Q257fs	DLGAP5_ENST00000395425.2_Frame_Shift_Ins_p.Q257fs	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	257					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	p.D257Y(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTACCTTGTCGGGTTTTGTTT	0.302													7	197	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)del	p.L591del	SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													18	350	---	---	---	---					
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	TCC	-	rs147271815		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:91550236_91550238delTCC	ENST00000333371.3	-	9	995_997	c.642_644delGGA	c.(640-645)gat>ga	p.ED214del	VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del|VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	214					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGTTTCGCCATCCTCCTCCTCCT	0.522													7	641	---	---	---	---					
ABCC6P1	0	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1																						ccctgtctcgaaaaaaaaaaa	0.507													10	50	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398													8	859	---	---	---	---					
IL4R	3566	broad.mit.edu	37	16	27367137	27367166	+	In_Frame_Del	DEL	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:27367137_27367166delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	ENST00000395762.2	+	8	938_967	c.679_708delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	c.(679-708)del	p.EPFEQHLLLG227del	IL4R_ENST00000380922.3_In_Frame_Del_p.EPFEQHLLLG212del|IL4R_ENST00000543915.2_In_Frame_Del_p.EPFEQHLLLG227del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_In_Frame_Del_p.EPFEQHLLLG227del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	227					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGCCTACAGGGAGCCCTTCGAGCAGCACCTCCTGCTGGGCGTCAGCGTTT	0.622													19	270	---	---	---	---					
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)del	p.E294del	EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													7	3099	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													8	377	---	---	---	---					
AC005863.1	0	broad.mit.edu	37	17	14673542	14673543	+	RNA	INS	-	-	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:14673542_14673543insT	ENST00000379640.1	-	0	354_355																											GCTGGTCCCAGTTTTTTTTTCT	0.450													7	153	---	---	---	---					
KRTAP9-9	81870	broad.mit.edu	37	17	39411670	39411671	+	In_Frame_Ins	INS	-	-	ACCTGCTGCAGGACC	rs58108918		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:39411670_39411671insACCTGCTGCAGGACC	ENST00000394008.1	+	1	35_36	c.33_34insACCTGCTGCAGGACC	c.(31-36)cccctg>ccACCTGCTGCAGGACCcctg	p.10_11insPPAAG		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	10						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTCAGCCTACCTGCTGCAG	0.604													14	289	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)del	p.K349del	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606													15	328	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													10	998	---	---	---	---					
FLT3LG	0	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)del	p.L20del	FLT3LG_ENST00000595815.1_3'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													12	376	---	---	---	---					
LILRB2	0	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:54780707_54780709delGAG	ENST00000391748.1	-	10	1559_1561	c.1432_1434delCTC	c.(1432-1434)del	p.L478del	LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													15	472	---	---	---	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)del	p.E306del	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													9	270	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33345721	33345723	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:33345721_33345723delTGC	ENST00000374796.2	-	8	3398_3400	c.828_830delGCA	c.(826-831)caa>ca	p.QQ284del	NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ284del			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	284	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ttgctgttgttgctgctgctgct	0.537													7	177	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61537401	61537402	+	Frame_Shift_Ins	INS	-	-	T	rs140153728		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:61537401_61537402insT	ENST00000266070.4	-	6	1750_1751	c.1425_1426insA	c.(1423-1428)aaagacfs	p.D476fs	DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	476					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGTGGTCTCTTTTTTTTCTG	0.490													8	623	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													13	427	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18843613	18843613	+	RNA	DEL	G	G	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:18843613delG	ENST00000412938.1	+	0	2337																											AGGAGAGGCAGGGGCGGGGGT	0.622													3	4	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcc>g	p.AS489del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	489					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													11	450	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcg>gc	p.AL139del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	139	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													8	345	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47039289	47039289	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:47039289delG	ENST00000377604.3	+	10	1654	c.912delG	c.(910-912)ttfs	p.L304fs	RBM10_ENST00000345781.6_Frame_Shift_Del_p.L227fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Frame_Shift_Del_p.L227fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	304	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCATCATTTTGCGCAACCTGA	0.612													22	42	---	---	---	---					
NKAP	79576	broad.mit.edu	37	X	119072752	119072753	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:119072752_119072753delTC	ENST00000371410.3	-	2	573_574	c.407_408delGA	c.(406-408)afs	p.R136fs		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	136					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATTCTCCAATTCTCTCTCTCTC	0.322													7	628	---	---	---	---