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
KHDRBS2	202559	broad.mit.edu	37	6	62611214	62611214	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:62611214C>T	ENST00000281156.4	-	5	824	c.546G>A	c.(544-546)gaG>gaA	p.E182E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GACCAGAGTCCTCTGAGCCAT	0.393000													15	39					0	0	0.000308642	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717555	13717555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:13717555G>A	ENST00000279593.3	-	13	2826	c.2617C>T	c.(2617-2619)Cat>Tat	p.H873Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	873					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCACCCCATGGATGCAGCTG	0.532000													26	46					0	0	0.000586117	0	0
BCHE	590	broad.mit.edu	37	3	165491209	165491209	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:165491209G>C	ENST00000264381.3	-	4	1936	c.1770C>G	c.(1768-1770)aaC>aaG	p.N590K	BCHE_ENST00000540653.1_Missense_Mutation_p.N52K	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	590					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TAGTGTAATCGTTAAATTGAT	0.343000													12	23					0	0	6.40141e-05	0	0
NELL1	4745	broad.mit.edu	37	11	21555941	21555941	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:21555941G>A	ENST00000298925.5	+	17	1904	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	NELL1_ENST00000357134.5_Missense_Mutation_p.G556E|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000325319.5_Missense_Mutation_p.G499E|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	556	EGF-like 5; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGTTCAGAGGGAATCATTGAG	0.458000													21	46					0	0	0.000586117	0	0
MAN2A1	4124	broad.mit.edu	37	5	109153015	109153015	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:109153015C>T	ENST00000261483.4	+	13	3037	c.1985C>T	c.(1984-1986)tCg>tTg	p.S662L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	662					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACCGAATCTCGTTGGTCTCA	0.413000													28	18					0	0	0.000279167	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560478	44560478	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:44560478G>A	ENST00000332567.4	-	1	1510	c.1158C>T	c.(1156-1158)taC>taT	p.Y386Y	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	386					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGTAGGTGAGGTATTTTTCAC	0.483000													21	51					0	0	0.000175454	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310207	7310207	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:7310207C>T	ENST00000537408.1	+	16	3224	c.2686C>T	c.(2686-2688)Cca>Tca	p.P896S	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000266546.6_Missense_Mutation_p.P884S			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	884					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CGGCGGGCCTCCAGGGGCCTC	0.642000													7	7					0	0	0.000274275	0	0
CDH18	1016	broad.mit.edu	37	5	19544014	19544014	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:19544014G>A	ENST00000507958.1	-	11	2344	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S	CDH18_ENST00000382275.1_Missense_Mutation_p.P452S|CDH18_ENST00000511273.1_Missense_Mutation_p.P452S|CDH18_ENST00000506372.1_Missense_Mutation_p.P452S|CDH18_ENST00000502796.1_Missense_Mutation_p.P452S|CDH18_ENST00000274170.4_Missense_Mutation_p.P452S			Q13634	CAD18_HUMAN	cadherin 18, type 2	452	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTGTACCATGGAGTTTCTTCT	0.368000													16	71					0	0	0.000566183	0	0
THYN1	29087	broad.mit.edu	37	11	134120208	134120208	+	Silent	SNP	G	G	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:134120208G>T	ENST00000341541.3	-	3	713	c.252C>A	c.(250-252)ccC>ccA	p.P84P	THYN1_ENST00000392594.3_Silent_p.P84P|THYN1_ENST00000392595.2_Silent_p.P84P|THYN1_ENST00000352327.5_Silent_p.P84P	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	84						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TTGTCTGTTTGGGCTGTGCTT	0.483000													15	35					2.62699e-14	2.88209e-13	0.000308642	1	0
PLRG1	5356	broad.mit.edu	37	4	155461135	155461135	+	Missense_Mutation	SNP	C	C	T	rs140568729		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:155461135C>T	ENST00000499023.2	-	11	1136	c.1010G>A	c.(1009-1011)aGa>aAa	p.R337K	PLRG1_ENST00000302078.5_Missense_Mutation_p.R328K|PLRG1_ENST00000393905.2_Missense_Mutation_p.R337K	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	337						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGCCTGACATCTCACTGTAGC	0.333000													23	67					0	0	0.000184323	0	0
ALAS2	212	broad.mit.edu	37	X	55051268	55051268	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:55051268G>A	ENST00000330807.5	-	3	324	c.187C>T	c.(187-189)Cca>Tca	p.P63S	ALAS2_ENST00000396198.3_Missense_Mutation_p.P87S|ALAS2_ENST00000335854.4_Missense_Mutation_p.P63S	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	63					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GCCCAAGATGGAGAATCTATG	0.473000													31	11					0	0	0.000339439	0	0
AHDC1	27245	broad.mit.edu	37	1	27873963	27873963	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:27873963G>A	ENST00000374011.2	-	6	5632	c.4664C>T	c.(4663-4665)tCg>tTg	p.S1555L	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.S1555L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1555							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCAGCAGCGAGTCCCTCGG	0.716000													12	30					0	0	0.00010058	0	0
STRIP1	85369	broad.mit.edu	37	1	110590400	110590400	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:110590400C>T	ENST00000369795.3	+	15	1592	c.1570C>T	c.(1570-1572)Ctc>Ttc	p.L524F	STRIP1_ENST00000461054.1_3'UTR|STRIP1_ENST00000369796.1_Missense_Mutation_p.L429F	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CCAGATTGCCCTCCTGAAGAT	0.532000													4	6					0	0	0.00024832	0	0
TMC5	79838	broad.mit.edu	37	16	19451378	19451378	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:19451378G>A	ENST00000396229.2	+	3	767	c.18G>A	c.(16-18)agG>agA	p.R6R	TMC5_ENST00000542583.2_Silent_p.R6R|TMC5_ENST00000541464.1_Silent_p.R6R|TMC5_ENST00000381414.4_Silent_p.R6R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	6						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTACTACAGGAATAACTGGT	0.448000													18	45					0	0	0.000958276	0	0
LRRC73	221424	broad.mit.edu	37	6	43474984	43474984	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:43474984C>T	ENST00000372441.1	-	6	1843	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	315																	AGTCACATCTCGGTCTCAGCC	0.557000											OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	3.59834e-05	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390652	61390652	+	RNA	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:61390652G>A	ENST00000544088.1	+	0	1260				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GGTTGAGCAAGGCTCAGAGTT	0.507000													23	51					0	0	0.00047179	0	0
CLUH	23277	broad.mit.edu	37	17	2604766	2604766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:2604766G>A	ENST00000570628.1	-	6	784	c.679C>T	c.(679-681)Ccg>Tcg	p.P227S	CLUH_ENST00000538975.1_Missense_Mutation_p.P227S|CLUH_ENST00000435359.1_Missense_Mutation_p.P227S|CLUH_ENST00000575014.1_Missense_Mutation_p.P159S					clustered mitochondria (cluA/CLU1) homolog																		CGGTTCCCCGGGGGCGGGTTC	0.637000													5	10					0	0	0.000602214	0	0
PHLPP1	23239	broad.mit.edu	37	18	60506075	60506075	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:60506075G>A	ENST00000400316.4	+	3	2077	c.296G>A	c.(295-297)aGc>aAc	p.S99N	PHLPP1_ENST00000262719.5_Missense_Mutation_p.S611N|PHLPP1_ENST00000588953.1_3'UTR	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	611					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GGACCCCAAAGCCAGACTTAC	0.428000													40	55					0	0	0.000319135	0	0
FYTTD1	84248	broad.mit.edu	37	3	197505288	197505288	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:197505288C>T	ENST00000428395.2	+	9	971	c.538C>T	c.(538-540)Cct>Tct	p.P180S	FYTTD1_ENST00000424384.2_Missense_Mutation_p.P204S|FYTTD1_ENST00000415708.2_Missense_Mutation_p.P245S|FYTTD1_ENST00000492360.1_3'UTR|FYTTD1_ENST00000241502.3_Missense_Mutation_p.P271S	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	271					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CAAGAAAGTTCCTAAAGGTGT	0.348000													14	28					0	0	0.000219431	0	0
TECTA	7007	broad.mit.edu	37	11	121016362	121016362	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:121016362C>T	ENST00000392793.1	+	12	3913	c.3642C>T	c.(3640-3642)ggC>ggT	p.G1214G	TECTA_ENST00000264037.2_Silent_p.G1214G|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1214	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGATTTTGGCCTGAAGGTTG	0.517000													24	52					0	0	0.000375601	0	0
OR8I2	120586	broad.mit.edu	37	11	55861032	55861032	+	Silent	SNP	G	G	A	rs145057566	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:55861032G>A	ENST00000302124.2	+	1	280	c.249G>A	c.(247-249)gtG>gtA	p.V83V	OR8I2_ENST00000560768.1_Silent_p.V83V			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGGCATTGGTGAATTTCCAAT	0.393000													41	84					0	0	0.000509022	0	0
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000													4	41					0	0	3.59834e-05	0	0
PTPN23	25930	broad.mit.edu	37	3	47453620	47453620	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:47453620C>T	ENST00000265562.4	+	22	4187	c.4110C>T	c.(4108-4110)ttC>ttT	p.F1370F	PTPN23_ENST00000431726.1_Silent_p.F1244F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1370	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTGCGCTTCATCCAGGAGG	0.622000													19	34					0	0	0.000295444	0	0
DNAAF3	352909	broad.mit.edu	37	19	55676788	55676788	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:55676788A>C	ENST00000527223.2	-	4	477	c.476T>G	c.(475-477)aTg>aGg	p.M159R	DNAAF3_ENST00000455045.1_Missense_Mutation_p.M37R|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Missense_Mutation_p.M91R|DNAAF3_ENST00000391720.4_Missense_Mutation_p.M138R	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	91																	GAAGATCAGCATGTGTCGGGC	0.557000													13	31					0	0	0.000219431	0	0
NANOS2	339345	broad.mit.edu	37	19	46417587	46417587	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:46417587G>A	ENST00000341294.2	-	1	449	c.365C>T	c.(364-366)tCc>tTc	p.S122F		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	122					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GCGGTAGAGGGACTGCTGGCC	0.667000													7	13					0	0	0.000274275	0	0
ABCB4	5244	broad.mit.edu	37	7	87041281	87041281	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:87041281G>A	ENST00000265723.4	-	23	2963	c.2852C>T	c.(2851-2853)tCc>tTc	p.S951F	ABCB4_ENST00000359206.3_Missense_Mutation_p.S951F|ABCB4_ENST00000358400.3_Intron|ABCB4_ENST00000545634.1_Missense_Mutation_p.S951F|ABCB4_ENST00000453593.1_Intron	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	951	ABC transmembrane type-1 2.				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)					ACCGGCATAGGAAAAATACAT	0.343000													13	21					0	0	0.000151284	0	0
DNAH3	55567	broad.mit.edu	37	16	21071678	21071678	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:21071678C>T	ENST00000261383.3	-	26	3720		c.e26-1		DNAH3_ENST00000415178.1_Splice_Site	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.?(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACCATGCCCTATGGAGCAA	0.537000													43	91					0	0	0.000509022	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:92251698G>A	ENST00000435962.2	-	11	1493	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_ENST00000340892.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F|TC2N_ENST00000360594.5_Silent_p.F390F	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000													62	158					0	0	0.000781405	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577479	14577479	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:14577479C>T	ENST00000544627.1	+	2	974	c.654C>T	c.(652-654)atC>atT	p.I218I	ATF7IP_ENST00000536444.1_Silent_p.I210I|ATF7IP_ENST00000543189.1_Silent_p.I210I|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Silent_p.I210I|ATF7IP_ENST00000540793.1_Silent_p.I210I			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	210					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTGATCCCATCCCAGGTGAAC	0.527000													27	79					0	0	0.000184323	0	0
JARID2	3720	broad.mit.edu	37	6	15501487	15501487	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:15501487C>T	ENST00000341776.2	+	8	2539	c.2295C>T	c.(2293-2295)gcC>gcT	p.A765A	JARID2_ENST00000397311.3_Silent_p.A593A|JARID2_ENST00000541660.1_Silent_p.A727A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	765					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACGGCGTGGCCCCCAGGAACG	0.637000													19	54					0	0	0.000132079	0	0
FBLN1	2192	broad.mit.edu	37	22	45960832	45960832	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:45960832C>T	ENST00000348697.2	+	15	1913	c.1766C>T	c.(1765-1767)cCa>cTa	p.P589L	FBLN1_ENST00000442170.2_Missense_Mutation_p.P589L|FBLN1_ENST00000327858.6_Intron			P23142	FBLN1_HUMAN	fibulin 1	585					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGGGTTCTTCCATGGAAGCAG	0.542000													11	28					0	0	0.000151284	0	0
MYO7B	4648	broad.mit.edu	37	2	128339539	128339539	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:128339539C>T	ENST00000389524.4	+	11	1207	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	MYO7B_ENST00000409816.2_Missense_Mutation_p.S385F|MYO7B_ENST00000428314.1_Missense_Mutation_p.S385F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	385	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTCACCAGGTCCCTGAACATT	0.612000													13	48					0	0	0.000308642	0	0
FLG	2312	broad.mit.edu	37	1	152282329	152282329	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:152282329C>T	ENST00000368799.1	-	3	5068	c.5033G>A	c.(5032-5034)gGa>gAa	p.G1678E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1678	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTTTCTCCTGGACTTGA	0.557000									Ichthyosis				96	213					0	0	0.000781405	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219205	44219205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:44219205C>T	ENST00000371554.1	+	8	1388	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.R392*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.R392*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	392					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAACATCTCCCGAGAAATGCT	0.463000													10	17					0	0	6.40141e-05	0	0
PSG7	5676	broad.mit.edu	37	19	43428937	43428937	+	RNA	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:43428937G>A	ENST00000406070.2	-	0	1379					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				gggagaagatggaattggagg	0.408000													4	69					0	0	0.000274275	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106510452	106510452	+	Missense_Mutation	SNP	C	C	T	rs145953652	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:106510452C>T	ENST00000420470.2	+	2	388	c.244C>T	c.(244-246)Cca>Tca	p.P82S	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.P82S	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	82					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GACCTTAACCCCAGAGGAAGA	0.418000													21	36					0	0	0.000132079	0	0
HRH1	3269	broad.mit.edu	37	3	11300948	11300948	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:11300948C>T	ENST00000397056.1	+	3	416	c.225C>T	c.(223-225)atC>atT	p.I75I	HRH1_ENST00000431010.2_Silent_p.I75I|HRH1_ENST00000438284.2_Silent_p.I75I	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	75					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CGGACTTGATCGTGGGTGCCG	0.572000													10	25					0	0	0.000673444	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840469	128840469	+	Missense_Mutation	SNP	G	G	A	rs142674734		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:128840469G>A	ENST00000310343.9	-	22	4596	c.4597C>T	c.(4597-4599)Cgt>Tgt	p.R1533C	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1184C|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1184C	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1533	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.R1184C(1)|p.R1533C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTGTTATAACGAAGACCCATG	0.542000													11	24					0	0	6.40141e-05	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195397	78195397	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:78195397C>T	ENST00000361193.3	+	3	318	c.38C>T	c.(37-39)tCc>tTc	p.S13F	SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000546047.2_Missense_Mutation_p.S13F|SLC26A11_ENST00000411502.3_Missense_Mutation_p.S13F|SLC26A11_ENST00000572725.1_Missense_Mutation_p.S13F	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	13						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGGCCAGGTCCTCTGGCCCC	0.692000													5	9					0	0	8.12818e-05	0	0
EYA1	2138	broad.mit.edu	37	8	72184013	72184013	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:72184013G>A	ENST00000340726.3	-	10	1585	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	EYA1_ENST00000388740.3_Missense_Mutation_p.P283S|EYA1_ENST00000388741.2_Missense_Mutation_p.P282S|EYA1_ENST00000388742.4_Missense_Mutation_p.P316S|EYA1_ENST00000303824.7_Missense_Mutation_p.P310S|EYA1_ENST00000419131.1_Missense_Mutation_p.P311S|EYA1_ENST00000388743.2_Missense_Mutation_p.P315S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	316					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATCTGGGGGAGGTGAAGGA	0.453000													25	64					0	0	0.000184323	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238035	26238035	+	RNA	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:26238035C>T	ENST00000519902.1	-	0	1913																											CACTTCCAACCTCTCCTTACA	0.398000													9	20					0	0	0.000442599	0	0
LAMB4	22798	broad.mit.edu	37	7	107708553	107708553	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:107708553C>T	ENST00000388781.3	-	19	2437	c.2354G>A	c.(2353-2355)gGa>gAa	p.G785E	LAMB4_ENST00000205386.4_Missense_Mutation_p.G785E|LAMB4_ENST00000388780.3_Missense_Mutation_p.G785E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	785	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCACTGGCCTCCAAGTCGGCT	0.562000													39	80					0	0	0.000191422	0	0
CGN	57530	broad.mit.edu	37	1	151509821	151509821	+	Nonstop_Mutation	SNP	A	A	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:151509821A>T	ENST00000271636.7	+	21	3744	c.3611A>T	c.(3610-3612)tAg>tTg	p.*1204L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	0						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCCTGTTAGCTCGTGGTC	0.557000													10	27					0	0	0.000219431	0	0
RP1	6101	broad.mit.edu	37	8	55542087	55542087	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:55542087C>T	ENST00000220676.1	+	4	5793	c.5645C>T	c.(5644-5646)tCt>tTt	p.S1882F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1882					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCCTGTCTCTGATGATGCT	0.403000													13	29					0	0	0.000151284	0	0
SCRN3	79634	broad.mit.edu	37	2	175263026	175263026	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:175263026C>T	ENST00000272732.6	+	2	97	c.15C>T	c.(13-15)tcC>tcT	p.S5S	SCRN3_ENST00000409673.3_Intron	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	5					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AACCTTTTTCCTGTGACACTT	0.294000													17	61					0	0	0.00074312	0	0
PRDM13	59336	broad.mit.edu	37	6	100057097	100057097	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:100057097G>A	ENST00000369214.1	+	3	602	c.341G>A	c.(340-342)gGg>gAg	p.G114E	PRDM13_ENST00000369215.4_Missense_Mutation_p.G104E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	104	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GTCCAGCCAGGGGAGGAGCTG	0.512000													6	13					0	0	8.12818e-05	0	0
PBRM1	55193	broad.mit.edu	37	3	52598133	52598133	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:52598133T>G	ENST00000356770.4	-	22	3714	c.3712A>C	c.(3712-3714)Aaa>Caa	p.K1238Q	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.K1245Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.K1270Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.K1245Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.K1270Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.K1285Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.K1270Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.K1285Q			Q86U86	PB1_HUMAN	polybromo 1	1270	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTTTGAATTTCTTCATCTGC	0.398000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								30	35					0	0	0.000227799	0	0
MUC16	94025	broad.mit.edu	37	19	9067484	9067484	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:9067484G>A	ENST00000397910.4	-	3	20165	c.19962C>T	c.(19960-19962)tcC>tcT	p.S6654S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6656	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGAGCCAGGGAGAATGTTG	0.502000													22	56					0	0	0.000229342	0	0
CD101	9398	broad.mit.edu	37	1	117552540	117552540	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:117552540C>T	ENST00000256652.4	+	2	170	c.112C>T	c.(112-114)Cca>Tca	p.P38S	CD101_ENST00000369470.1_Missense_Mutation_p.P38S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	38	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAAGGTTACCCAGTCAGCAT	0.488000													22	41					0	0	0.000295444	0	0
APBB3	10307	broad.mit.edu	37	5	139941690	139941690	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:139941690C>T	ENST00000357560.4	-	6	1064	c.621G>A	c.(619-621)aaG>aaA	p.K207K	APBB3_ENST00000412920.3_Silent_p.K207K|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Silent_p.K207K|APBB3_ENST00000356738.2_Silent_p.K207K|APBB3_ENST00000358580.5_Silent_p.K207K|APBB3_ENST00000354402.5_Silent_p.K207K	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	207	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCGGCCCTTGGAGCTCC	0.602000													10	15					0	0	0.000673444	0	0
BDP1	55814	broad.mit.edu	37	5	70809023	70809023	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:70809023C>T	ENST00000358731.4	+	19	4522	c.4259C>T	c.(4258-4260)cCt>cTt	p.P1420L	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1420					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAATCTCTTCCTCAAGAACAG	0.428000													14	30					0	0	0.00074312	0	0
GPD1	2819	broad.mit.edu	37	12	50500671	50500671	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:50500671G>A	ENST00000301149.3	+	5	815	c.583G>A	c.(583-585)Gac>Aac	p.D195N	GPD1_ENST00000548814.1_Missense_Mutation_p.D172N|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	195					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GCAAGAGGTGGACACAGTAGA	0.572000													15	24					0	0	0.000308642	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717367	2717367	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:2717367G>A	ENST00000323469.4	-	2	621	c.438C>T	c.(436-438)ttC>ttT	p.F146F	DIRAS1_ENST00000585334.1_Silent_p.F146F	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	146					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCTCCATGAAAGCGCACT	0.622000													14	29					0	0	0.000308642	0	0
DNAH3	55567	broad.mit.edu	37	16	21147682	21147682	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:21147682C>T	ENST00000261383.3	-	6	848	c.849G>A	c.(847-849)aaG>aaA	p.K283K	DNAH3_ENST00000415178.1_Silent_p.K283K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	283	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTCATTCTCCTTCTCCTGCA	0.507000													26	58					0	0	0.000184323	0	0
BSN	8927	broad.mit.edu	37	3	49692713	49692713	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:49692713C>T	ENST00000296452.4	+	5	5838	c.5724C>T	c.(5722-5724)ccC>ccT	p.P1908P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1908					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACAAGCTCCCCTTTGGCAGCA	0.637000													17	20					0	0	0.00074312	0	0
CPEB1	64506	broad.mit.edu	37	15	83221289	83221289	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:83221289G>A	ENST00000563800.1	-	8	2947	c.1222C>T	c.(1222-1224)Cca>Tca	p.P408S	CPEB1_ENST00000450751.2_Missense_Mutation_p.P306S|CPEB1_ENST00000568128.1_Missense_Mutation_p.P381S|CPEB1_ENST00000562019.1_Missense_Mutation_p.P386S|CPEB1_ENST00000398592.2_Missense_Mutation_p.P155S|RP11-152F13.10_ENST00000562833.1_Silent_p.A115A|CPEB1_ENST00000568757.1_Missense_Mutation_p.P306S|CPEB1_ENST00000564522.1_Missense_Mutation_p.P306S|CPEB1_ENST00000398591.2_Missense_Mutation_p.P311S|CPEB1_ENST00000261723.6_Missense_Mutation_p.P384S|CPEB1_ENST00000423133.2_Missense_Mutation_p.P306S|RP11-379H8.1_ENST00000568285.1_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	386	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGGCCATCTGGGCTCAGCGGG	0.493000													18	51					0	0	0.000958276	0	0
FRMPD2	143162	broad.mit.edu	37	10	49450341	49450341	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:49450341G>T	ENST00000374201.3	-	5	732	c.430C>A	c.(430-432)Cag>Aag	p.Q144K	FRMPD2_ENST00000305531.3_Missense_Mutation_p.Q120K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.Q113K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	144	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGTGAGGCTGGTCTTCACAC	0.612000													16	20					1.00905e-13	1.10437e-12	0.000132079	1	0
WNT2B	7482	broad.mit.edu	37	1	113010171	113010171	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:113010171C>T	ENST00000369686.4	+	1	116	c.12C>T	c.(10-12)ggC>ggT	p.G4G	WNT2B_ENST00000256640.5_5'UTR	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	0					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		tgttggatggccttggagtgg	0.333000													15	24					0	0	0.000566183	0	0
NFRKB	4798	broad.mit.edu	37	11	129753057	129753057	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:129753057G>A	ENST00000446488.3	-	8	964	c.861C>T	c.(859-861)atC>atT	p.I287I	NFRKB_ENST00000304521.5_Silent_p.I287I|NFRKB_ENST00000524794.1_Silent_p.I312I|NFRKB_ENST00000524746.1_Silent_p.I287I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	287					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ctcgagtcatgatgtcattga	0.502000													25	43					0	0	0.000279167	0	0
YJEFN3	374887	broad.mit.edu	37	19	19640257	19640257	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:19640257G>A	ENST00000514277.3	+	2	179	c.144G>A	c.(142-144)agG>agA	p.R48R	CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000436027.4_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	48										NS(1)|breast(1)|lung(3)	5						TCCAGAGGAGGAAACAGGCCT	0.587000													10	17					0	0	0.000673444	0	0
PTH1R	5745	broad.mit.edu	37	3	46939630	46939630	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:46939630G>A	ENST00000449590.1	+	7	694	c.491G>A	c.(490-492)tGg>tAg	p.W164*	PTH1R_ENST00000430002.2_Nonsense_Mutation_p.W164*|PTH1R_ENST00000418619.1_Nonsense_Mutation_p.W164*|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000313049.5_Nonsense_Mutation_p.W164*	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	164						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						AACAGGACGTGGGCCAACTAC	0.597000													25	64					0	0	0.000184323	0	0
C1orf86	199990	broad.mit.edu	37	1	2125234	2125234	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:2125234T>A	ENST00000378545.3	-	4	622	c.623A>T	c.(622-624)cAc>cTc	p.H208L	C1orf86_ENST00000378546.4_Missense_Mutation_p.H105L|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR			Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	105										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TCCTGCCCCGTGAAGCAGCCG	0.697000													7	13					0	0	0.000274275	0	0
PTGDR	5729	broad.mit.edu	37	14	52734848	52734848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:52734848C>T	ENST00000306051.2	+	1	418	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	PTGDR_ENST00000553372.1_Nonsense_Mutation_p.Q106*	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	106						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTCGTTGTGCCAAGCCTTCGC	0.607000													35	76					0	0	0.000228196	0	0
CD177	57126	broad.mit.edu	37	19	43857897	43857897	+	RNA	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:43857897G>A	ENST00000378009.4	+	0	73				CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GGCCCTCCTGGGGTTCATCCT	0.557000													34	56					0	0	0.000191422	0	0
ZNF773	374928	broad.mit.edu	37	19	58016027	58016027	+	Missense_Mutation	SNP	G	G	A	rs139350568	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:58016027G>A	ENST00000601674.1	+	3	396	c.163G>A	c.(163-165)Ggg>Agg	p.G55R	ZNF773_ENST00000593916.1_Splice_Site|ZNF773_ENST00000282292.4_Silent_p.Q12Q|ZNF773_ENST00000598770.1_Splice_Site|ZNF773_ENST00000599847.1_Silent_p.Q12Q																							CATCTTAGCAGGGCTATGTGA	0.522000													37	86					0	0	0.000509022	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733464	56733464	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:56733464G>A	ENST00000587340.1	-	7	1666	c.971C>T	c.(970-972)tCc>tTc	p.S324F	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S324F|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S178F|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S207F|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S323F			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	324					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGTCCCGGGGATTCTCTGTT	0.562000													19	48					0	0	0.000958276	0	0
DHX58	79132	broad.mit.edu	37	17	40261367	40261367	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:40261367G>A	ENST00000251642.3	-	6	821	c.599C>T	c.(598-600)cCc>cTc	p.P200L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	200					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCAGTTCTGGGGTGACATGAT	0.592000													13	28					0	0	0.00010058	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209953943	209953943	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:209953943G>A	ENST00000367024.1	+	15	1957	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E481K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E461K|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E461K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	481						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCAGGCCAAGGAAAAGGAGGT	0.502000													11	22					0	0	0.00010058	0	0
PIGQ	9091	broad.mit.edu	37	16	630930	630930	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:630930T>G	ENST00000321878.5	+	9	1648	c.1489T>G	c.(1489-1491)Tac>Gac	p.Y497D	PIGQ_ENST00000409527.2_Missense_Mutation_p.Y497D|PIGQ_ENST00000026218.5_Missense_Mutation_p.Y497D	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	497	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCTGCCGCTGTACTCACTGGG	0.647000													28	72					0	0	0.000491102	0	0
FZD8	8325	broad.mit.edu	37	10	35928632	35928632	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:35928632C>T	ENST00000374694.1	-	1	1730	c.1726G>A	c.(1726-1728)Gac>Aac	p.D576N		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	576					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CGTGCCTGGTCGGGCTGCAGG	0.682000													11	13					0	0	0.00010058	0	0
KRT71	112802	broad.mit.edu	37	12	52940108	52940108	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:52940108G>A	ENST00000267119.5	-	7	1356	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	429	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GATAGGTGGCGATCTCCATGT	0.657000													16	30					0	0	0.00074312	0	0
ZNF486	90649	broad.mit.edu	37	19	20296821	20296821	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:20296821G>A	ENST00000335117.8	+	3	240	c.183G>A	c.(181-183)ctG>ctA	p.L61L	CTC-260E6.6_ENST00000585498.1_RNA|ZNF486_ENST00000597083.1_Silent_p.L61L|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGCCAGACCTGATCACCTGTC	0.378000													24	48					0	0	0.000878237	0	0
FGF3	2248	broad.mit.edu	37	11	69631106	69631106	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:69631106C>T	ENST00000334134.2	-	2	396	c.306G>A	c.(304-306)agG>agA	p.R102R		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	102					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGAGTCGTCCCCTCTTGTTCA	0.592000													20	42					0	0	0.000295444	0	0
GZF1	64412	broad.mit.edu	37	20	23349486	23349486	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:23349486C>T	ENST00000338121.5	+	4	1624	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	GZF1_ENST00000377051.2_Missense_Mutation_p.S516F|GZF1_ENST00000542987.1_Missense_Mutation_p.S25F|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Missense_Mutation_p.S40F			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	516					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)					CATACTGGATCCAAACCCTTT	0.398000													16	31					0	0	0.000308642	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													3	19					0	0	0.00024832	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100482	27100482	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:27100482C>T	ENST00000607124.1	-	1	47	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HIST1H2BJ_ENST00000541790.1_Silent_p.K16K|HIST1H2BJ_ENST00000339812.2_Silent_p.K16K			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	16					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						TCACCGCCTTCTTGGAGCCCT	0.547000													30	70					0	0	0.000227799	0	0
XIRP1	165904	broad.mit.edu	37	3	39229628	39229628	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:39229628C>T	ENST00000340369.3	-	2	1537	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.D437N	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	437							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCTTCACATCCCCCTTTAGC	0.557000													42	102					0	0	0.000437636	0	0
DCHS2	54798	broad.mit.edu	37	4	155219053	155219053	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:155219053G>A	ENST00000357232.3	-	18	5047	c.5048C>T	c.(5047-5049)tCc>tTc	p.S1683F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1683	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGCTGAAGGAAATCTTTAC	0.448000													17	26					0	0	0.000566183	0	0
C1orf173	127254	broad.mit.edu	37	1	75102032	75102032	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:75102032G>A	ENST00000326665.5	-	6	753	c.535C>T	c.(535-537)Cca>Tca	p.P179S		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	179										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTACCTTTGGAACAGTTTCT	0.393000													77	137					0	0	0.000781405	0	0
CHIT1	1118	broad.mit.edu	37	1	203188415	203188415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:203188415G>A	ENST00000367229.1	-	9	992	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.Q311*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.Q301*|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	320					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGCACCTTCTGATCCTGGATT	0.597000													36	72					0	0	0.000228196	0	0
HYDIN	54768	broad.mit.edu	37	16	71127815	71127815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:71127815G>A	ENST00000393567.2	-	11	1501	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	HYDIN_ENST00000448089.2_Nonsense_Mutation_p.R451*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.R451*|HYDIN_ENST00000321489.5_Nonsense_Mutation_p.R451*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.R468*|HYDIN_ENST00000538248.1_Nonsense_Mutation_p.R478*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.R451*|HYDIN_ENST00000541601.1_Nonsense_Mutation_p.R468*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	451			R -> P (in dbSNP:rs7200485).					p.R451R(4)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTTTGATTCGGAGGGGCAGA	0.428000													18	28					0	0	0.000958276	0	0
SIRT7	51547	broad.mit.edu	37	17	79873357	79873357	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:79873357G>A	ENST00000328666.6	-	5	501	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	147	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATGTGGGTGAGGGTTGGCTCG	0.647000													4	12					0	0	0.00024832	0	0
PARP16	54956	broad.mit.edu	37	15	65553251	65553251	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:65553251G>A	ENST00000261888.6	-	5	1250	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	PARP16_ENST00000444347.2_Silent_p.L154L	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	269	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAATACACCAGGAGGTACTTC	0.488000													35	69					0	0	0.000270559	0	0
FARP2	9855	broad.mit.edu	37	2	242402844	242402844	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:242402844G>A	ENST00000264042.3	+	16	1942	c.1772G>A	c.(1771-1773)aGa>aAa	p.R591K	FARP2_ENST00000545004.1_Missense_Mutation_p.R591K|FARP2_ENST00000373287.4_Missense_Mutation_p.R591K	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	591	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GAGTTCCACAGAGGCTTCCTG	0.592000													11	9					0	0	0.000673444	0	0
CSMD3	114788	broad.mit.edu	37	8	113318319	113318319	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:113318319C>T	ENST00000297405.5	-	51	8232	c.7988G>A	c.(7987-7989)cGa>cAa	p.R2663Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2559Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2623Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2593Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2663	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATGACAATCGATATCCATC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	58					0	0	0.000295444	0	0
TTN	7273	broad.mit.edu	37	2	179588354	179588354	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:179588354C>T	ENST00000589042.1	-	74	21697	c.21473G>A	c.(21472-21474)aGc>aAc	p.S7158N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5914N|TTN_ENST00000591111.1_Missense_Mutation_p.S6841N|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6841	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAATAACGCTTGTGAAGGT	0.418000													14	21					0	0	0.000151284	0	0
RSPH6A	81492	broad.mit.edu	37	19	46313980	46313980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:46313980C>T	ENST00000221538.3	-	2	911	c.769G>A	c.(769-771)Gac>Aac	p.D257N	RSPH6A_ENST00000600188.1_5'UTR|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D257N	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	257						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGCAGCGTGTCCAGCTTGGGG	0.622000													12	36					0	0	0.000219431	0	0
SPTBN4	57731	broad.mit.edu	37	19	41071419	41071419	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:41071419G>A	ENST00000352632.3	+	28	6092	c.6006G>A	c.(6004-6006)caG>caA	p.Q2002Q	SPTBN4_ENST00000598249.1_Silent_p.Q2002Q|SPTBN4_ENST00000338932.3_Silent_p.Q2002Q|SPTBN4_ENST00000392025.1_Silent_p.Q745Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2002					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCACCTGCCAGGAGCTGGGGC	0.642000													4	11					0	0	0.00024832	0	0
LCE2D	353141	broad.mit.edu	37	1	152636669	152636669	+	Missense_Mutation	SNP	C	C	T	rs150498841	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:152636669C>T	ENST00000368784.1	+	2	143	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	30	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAGTGTCCCCCCAAATGCCC	0.602000													27	61					0	0	0.000878237	0	0
KIF21B	23046	broad.mit.edu	37	1	200969701	200969701	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:200969701G>A	ENST00000332129.2	-	11	1818	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	KIF21B_ENST00000461742.2_Missense_Mutation_p.S501F|KIF21B_ENST00000422435.2_Missense_Mutation_p.S501F|KIF21B_ENST00000360529.5_Missense_Mutation_p.S501F	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	501					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCGGCGCAGGGACTCGTTCAT	0.672000													7	20					0	0	8.12818e-05	0	0
ECEL1	9427	broad.mit.edu	37	2	233347635	233347635	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:233347635C>T	ENST00000304546.1	-	10	1821	c.1611G>A	c.(1609-1611)aaG>aaA	p.K537K	ECEL1_ENST00000409941.1_Silent_p.K537K	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	537					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCAAGATGTTCTTGAAGTAGG	0.592000													41	85					0	0	0.000509022	0	0
ADAM15	8751	broad.mit.edu	37	1	155028322	155028322	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:155028322C>T	ENST00000356955.2	+	7	770	c.669C>T	c.(667-669)caC>caT	p.H223H	ADAM15_ENST00000355956.2_Silent_p.H223H|ADAM15_ENST00000360674.4_Silent_p.H223H|ADAM15_ENST00000271836.6_Silent_p.H223H|ADAM15_ENST00000531455.1_Silent_p.H233H|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Silent_p.H223H|ADAM15_ENST00000368412.3_Silent_p.H223H|ADAM15_ENST00000359280.4_Silent_p.H223H|ADAM15_ENST00000447332.3_Silent_p.H207H|ADAM15_ENST00000368410.2_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	223	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGCTGATCACTCGGAGGTGA	0.572000													25	47					0	0	0.000586117	0	0
LSMEM1	286006	broad.mit.edu	37	7	112129972	112129972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:112129972C>T	ENST00000312849.4	+	4	725	c.364C>T	c.(364-366)Caa>Taa	p.Q122*	LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Nonsense_Mutation_p.Q122*	NM_182597.2	NP_872403.1			leucine-rich single-pass membrane protein 1																		GCGACTCAACCAACTCAACCA	0.393000													21	63					0	0	0.000295444	0	0
BSN	8927	broad.mit.edu	37	3	49692712	49692712	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:49692712C>T	ENST00000296452.4	+	5	5837	c.5723C>T	c.(5722-5724)cCc>cTc	p.P1908L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1908					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TACAAGCTCCCCTTTGGCAGC	0.642000													17	20					0	0	0.00074312	0	0
GALNT16	57452	broad.mit.edu	37	14	69795286	69795286	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:69795286G>A	ENST00000337827.4	+	6	1015	c.688G>A	c.(688-690)Gag>Aag	p.E230K	GALNT16_ENST00000448469.3_Missense_Mutation_p.E230K|GALNT16_ENST00000553669.1_Missense_Mutation_p.E230K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GCGGGTGAAGGAGGTGAGCCA	0.632000													20	41					0	0	0.000229342	0	0
RANBP6	26953	broad.mit.edu	37	9	6013112	6013112	+	Silent	SNP	A	A	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:6013112A>G	ENST00000259569.5	-	1	2506	c.2496T>C	c.(2494-2496)gtT>gtC	p.V832V		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	832					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GAGACATCTCAACCTGTTGAT	0.343000													46	35					0	0	0.000589545	0	0
ASXL3	80816	broad.mit.edu	37	18	31318725	31318725	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:31318725G>A	ENST00000269197.5	+	11	1357	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATTCAGGAGGAAATTGCAGA	0.393000													22	55					0	0	0.00047179	0	0
MTUS2	23281	broad.mit.edu	37	13	29599744	29599744	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:29599744G>T	ENST00000431530.3	+	1	997	c.939G>T	c.(937-939)caG>caT	p.Q313H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	303						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AATTAGGTCAGGGAAAGGGAG	0.517000													16	26					1.5739e-10	1.71845e-09	0.000422831	1	0
MEI1	150365	broad.mit.edu	37	22	42172262	42172262	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:42172262C>T	ENST00000401548.3	+	21	2741	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.P269S|MEI1_ENST00000540880.1_Missense_Mutation_p.P219S	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	901							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGGGCATCCCCATCAGGAGG	0.567000													9	19					0	0	0.000274275	0	0
FAT4	79633	broad.mit.edu	37	4	126371771	126371771	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:126371771C>T	ENST00000394329.3	+	9	9613	c.9600C>T	c.(9598-9600)ttC>ttT	p.F3200F	FAT4_ENST00000335110.5_Silent_p.F1498F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3200	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGACTATTTCCCTACTGTTT	0.418000													14	47					0	0	0.000219431	0	0
SERPINF1	5176	broad.mit.edu	37	17	1679855	1679855	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:1679855G>A	ENST00000254722.4	+	7	979	c.816G>A	c.(814-816)atG>atA	p.M272I		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	272					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CCGGAAGCATGAGTATCATCT	0.517000													42	70					0	0	0.000781405	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	60					0	0	0.00024832	0	0
PRSS58	136541	broad.mit.edu	37	7	141952365	141952365	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:141952365G>A	ENST00000552471.1	-	4	822	c.503C>T	c.(502-504)gCc>gTc	p.A168V	PRSS58_ENST00000547058.2_Missense_Mutation_p.A168V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	168	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GGTTTTATAGGCATCGCGACA	0.423000													29	49					0	0	0.000409698	0	0
HECTD4	283450	broad.mit.edu	37	12	112632753	112632753	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:112632753G>A	ENST00000550722.1	-	56	8642	c.8247C>T	c.(8245-8247)atC>atT	p.I2749I	HECTD4_ENST00000377560.5_Silent_p.I2723I|HECTD4_ENST00000430131.2_Silent_p.I2473I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TAATGTCCCGGATGGCAGGGA	0.577000													5	7					0	0	3.59834e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9038404	9038404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:9038404G>A	ENST00000397910.4	-	7	36318	c.36115C>T	c.(36115-36117)Cgg>Tgg	p.R12039W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12041	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R12039W(1)|p.R7672W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCAGTACCGACGGTTATAA	0.488000													28	46					0	0	0.000339439	0	0
OR2C1	4993	broad.mit.edu	37	16	3406106	3406106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:3406106C>T	ENST00000304936.2	+	1	218	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGCCCGGCTCCATACACCCAT	0.502000													38	79					0	0	0.000437636	0	0
GALNT13	114805	broad.mit.edu	37	2	154801150	154801150	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:154801150G>A	ENST00000392825.3	+	3	707	c.140G>A	c.(139-141)aGg>aAg	p.R47K	GALNT13_ENST00000409237.1_Missense_Mutation_p.R47K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	47						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCTGCATTGAGGGGTAAGTGC	0.403000													26	53					0	0	0.000279167	0	0
SGK1	6446	broad.mit.edu	37	6	134491988	134491988	+	Silent	SNP	A	A	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:134491988A>G	ENST00000367858.5	-	13	1986	c.1389T>C	c.(1387-1389)atT>atC	p.I463I	SGK1_ENST00000413996.3_Silent_p.I382I|SGK1_ENST00000237305.7_Silent_p.I368I|SGK1_ENST00000367857.5_Silent_p.I358I|SGK1_ENST00000475719.2_Silent_p.I324I|SGK1_ENST00000528577.1_Silent_p.I396I	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	368					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AAGGGGGAGTAATCTTCTTAT	0.373000													43	98					0	0	0.000781405	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957534	50957534	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:50957534C>T	ENST00000357701.5	+	18	1973	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	641	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTCCCAGACCCCCCGGAGGCT	0.647000													8	7					0	0	0.000274275	0	0
NDNF	79625	broad.mit.edu	37	4	121958511	121958511	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:121958511C>T	ENST00000379692.4	-	4	1141	c.615G>A	c.(613-615)ctG>ctA	p.L205L	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	205										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGGGTTGTTTCAGCAAAGAGG	0.483000													29	79					0	0	0.000227799	0	0
MUC3A	4584	broad.mit.edu	37	7	100549494	100549494	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:100549494G>A	ENST00000379458.4	+	2	75	c.75G>A	c.(73-75)acG>acA	p.25_25insT	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTTATCCACGGCCACATCCA	0.532000													26	72					0	0	0.000147802	0	0
SCN8A	6334	broad.mit.edu	37	12	52184212	52184212	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:52184212G>A	ENST00000354534.5	+	25	4628	c.4450G>A	c.(4450-4452)Gaa>Aaa	p.E1484K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1443K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1484					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CATGACCGAAGAACAGAAGAA	0.478000													10	17					0	0	0.000673444	0	0
LSR	51599	broad.mit.edu	37	19	35753456	35753456	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:35753456C>T	ENST00000602122.1	+	4	1213	c.726C>T	c.(724-726)ctC>ctT	p.L242L	LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Silent_p.L261L|LSR_ENST00000427250.1_Intron|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_Silent_p.L242L|LSR_ENST00000347609.4_Silent_p.L224L			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	261					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGACTGGCTCTTCGTGGTTG	0.622000													26	66					0	0	0.000227799	0	0
NLRP12	91662	broad.mit.edu	37	19	54314291	54314291	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:54314291C>T	ENST00000324134.6	-	3	790	c.622G>A	c.(622-624)Gag>Aag	p.E208K	NLRP12_ENST00000535162.1_Missense_Mutation_p.E208K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E208K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E208K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E208K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E208K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E208K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E208K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	208					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGCGGTGGCTCGGGGCGCTCC	0.647000													21	45					0	0	0.000720815	0	0
CDH5	1003	broad.mit.edu	37	16	66436844	66436844	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:66436844C>T	ENST00000341529.3	+	12	2275	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	CDH5_ENST00000539168.1_Silent_p.I148I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	709					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCCATGATCGAGGTGAAGA	0.697000													9	12					0	0	0.000673444	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462266	5462266	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:5462266C>T	ENST00000296564.7	+	13	3041	c.2819C>T	c.(2818-2820)cCa>cTa	p.P940L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	940										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTAATTCTCCAGGTGGTTCT	0.383000													10	27					0	0	6.40141e-05	0	0
SPINK9	643394	broad.mit.edu	37	5	147719230	147719230	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:147719230G>A	ENST00000511717.2	+	5	549	c.278_splice	c.e5-1	p.K93_splice	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Splice_Site_p.K72_splice			Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	72						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCCACAGGAAAACTGACG	0.333000													21	22					0	0	0.000586117	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581004	1581004	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:1581004G>A	ENST00000421627.2	+	5	1496	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	533					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.A476A(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAGCGAGGCGGAGATCAATG	0.572000													6	7					0	0	0.000274275	0	0
STAT3	6774	broad.mit.edu	37	17	40498618	40498618	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:40498618T>A	ENST00000264657.5	-	3	554	c.242A>T	c.(241-243)cAc>cTc	p.H81L	STAT3_ENST00000588969.1_Missense_Mutation_p.H81L|STAT3_ENST00000585517.1_Missense_Mutation_p.H81L|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000404395.3_Missense_Mutation_p.H81L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	81					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCGTAGATTGTGCTGATAGAG	0.458000									Hyperimmunoglobulin E Recurrent Infection Syndrome				69	144					0	0	0.000781405	0	0
GSDMC	56169	broad.mit.edu	37	8	130789704	130789704	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:130789704C>T	ENST00000276708.4	-	2	1011	c.130G>A	c.(130-132)Gat>Aat	p.D44N		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	44						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAACGAGAATCCTTCTTCTTT	0.398000													23	45					0	0	0.00047179	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305949	27305949	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:27305949G>A	ENST00000380320.4	+	4	2009	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	504					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCGCAGGGTGCTGGACAG	0.692000													6	6					0	0	3.59834e-05	0	0
TEP1	7011	broad.mit.edu	37	14	20876287	20876287	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:20876287G>A	ENST00000262715.5	-	2	352	c.312C>T	c.(310-312)atC>atT	p.I104I	TEP1_ENST00000556935.1_Silent_p.I104I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	104					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCAAGGAGAGGATGTCTGGGT	0.542000													32	59					0	0	0.000491102	0	0
MYO5B	4645	broad.mit.edu	37	18	47373529	47373529	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:47373529C>T	ENST00000285039.7	-	33	4745	c.4446G>A	c.(4444-4446)cgG>cgA	p.R1482R	MYO5B_ENST00000592688.1_Silent_p.R52R|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.R597R	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1482					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCACCAGGTTCCGGATGAGGA	0.622000													8	32					0	0	0.000157383	0	0
ABCG5	64240	broad.mit.edu	37	2	44065037	44065037	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:44065037C>T	ENST00000260645.1	-	2	340	c.201G>A	c.(199-201)caG>caA	p.Q67Q	ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	67	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTTGAGGATCTGCCTGGTCC	0.552000													81	206					0	0	0.000781405	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113660356	113660356	+	RNA	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:113660356G>A	ENST00000393544.2	+	0	404																											ACCTGGCAGAGGTGAAGGACT	0.562000													3	6					0	0	6.4e-05	0	0
FCGBP	8857	broad.mit.edu	37	19	40430374	40430374	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:40430374G>A	ENST00000221347.6	-	3	1576	c.1569C>T	c.(1567-1569)cgC>cgT	p.R523R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	523	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGAGACGCGGCGGCTGCCCC	0.662000													8	8					0	0	0.000274275	0	0
PPIL6	285755	broad.mit.edu	37	6	109748118	109748118	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:109748118C>T	ENST00000521072.2	-	5	1143	c.563G>A	c.(562-564)gGc>gAc	p.G188D	PPIL6_ENST00000440797.2_Missense_Mutation_p.G188D|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Missense_Mutation_p.G156D	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	188	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TAGTCTTATGCCACGTTGAGA	0.353000													5	117					0	0	0.000602214	0	0
RECQL4	9401	broad.mit.edu	37	8	145740345	145740345	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:145740345G>A	ENST00000428558.2	-	9	1636	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	532	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACAGCAGGGGAGAGACGAC	0.632000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	11					0	0	0.000274275	0	0
DCLK2	166614	broad.mit.edu	37	4	151023695	151023695	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:151023695C>T	ENST00000296550.7	+	2	1241	c.487C>T	c.(487-489)Cca>Tca	p.P163S	DCLK2_ENST00000506325.1_Missense_Mutation_p.P163S|DCLK2_ENST00000302176.8_Missense_Mutation_p.P163S	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	163					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAATATTAATCCAAACTGGTC	0.388000													14	27					0	0	0.000308642	0	0
EXD1	161829	broad.mit.edu	37	15	41482292	41482292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:41482292G>A	ENST00000314992.5	-	9	915	c.725C>T	c.(724-726)tCa>tTa	p.S242L	EXD1_ENST00000458580.2_Missense_Mutation_p.S300L	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	242					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TAAAGAGGGTGAAACAGGTCG	0.428000													35	73					0	0	0.000953801	0	0
GCNT1	2650	broad.mit.edu	37	9	79117777	79117777	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:79117777T>A	ENST00000442371.1	+	3	1419	c.480T>A	c.(478-480)gaT>gaA	p.D160E	GCNT1_ENST00000536223.1_Missense_Mutation_p.D160E|GCNT1_ENST00000376730.4_Missense_Mutation_p.D160E|GCNT1_ENST00000444201.2_Missense_Mutation_p.D160E	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	160	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AATCCGAGGATTCCTATTTAG	0.463000													23	47					0	0	0.000878237	0	0
DNAH5	1767	broad.mit.edu	37	5	13864514	13864514	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:13864514C>T	ENST00000265104.4	-	28	4692	c.4588G>A	c.(4588-4590)Gaa>Aaa	p.E1530K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1530	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)					ACCTCTATTTCCTCTTTATAT	0.383000									Kartagener syndrome				18	53					0	0	0.00074312	0	0
C7orf10	79783	broad.mit.edu	37	7	40234577	40234577	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:40234577C>T	ENST00000309930.5	+	6	447	c.423C>T	c.(421-423)gtC>gtT	p.V141V	C7orf10_ENST00000335693.4_Silent_p.V141V|C7orf10_ENST00000540834.1_Silent_p.V134V|C7orf10_ENST00000401647.2_Silent_p.V141V	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	141							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AAAACTATGTCCCTGGCAAAC	0.443000													34	71					0	0	0.00058488	0	0
FLNB	2317	broad.mit.edu	37	3	58064461	58064461	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:58064461G>A	ENST00000357272.4	+	3	724	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	FLNB_ENST00000419752.2_Missense_Mutation_p.E18K|FLNB_ENST00000295956.4_Missense_Mutation_p.E187K|FLNB_ENST00000358537.3_Missense_Mutation_p.E187K|FLNB_ENST00000429972.2_Missense_Mutation_p.E187K|FLNB_ENST00000348383.5_Missense_Mutation_p.E187K|FLNB_ENST00000493452.1_Missense_Mutation_p.E18K|FLNB_ENST00000490882.1_Missense_Mutation_p.E187K			O75369	FLNB_HUMAN	filamin B, beta	187	Actin-binding.|CH 2.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAGACTGGGAATCCTGGGA	0.498000													11	9					0	0	0.000219431	0	0
ENPP4	22875	broad.mit.edu	37	6	46107385	46107385	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:46107385C>T	ENST00000321037.4	+	2	295	c.65C>T	c.(64-66)tCt>tTt	p.S22F		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	22						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GACTCTTCCTCTAGTTTGCCA	0.353000													42	62					0	0	0.000781405	0	0
SLC9C2	284525	broad.mit.edu	37	1	173494043	173494043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:173494043C>T	ENST00000367714.3	-	20	2811	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	797					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATGACAACATCACGACCCTCA	0.348000													20	42					0	0	0.000175454	0	0
FRMD1	79981	broad.mit.edu	37	6	168475997	168475997	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:168475997C>T	ENST00000283309.6	-	2	296	c.232G>A	c.(232-234)Gag>Aag	p.E78K	FRMD1_ENST00000440994.2_Missense_Mutation_p.E10K	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	78	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGGAAAAGCTCGCGGCCAGTA	0.627000													14	35					0	0	0.000422831	0	0
PPP5C	5536	broad.mit.edu	37	19	46891949	46891949	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:46891949G>A	ENST00000012443.4	+	11	1419	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	PPP5C_ENST00000391919.1_Missense_Mutation_p.G311E	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	439	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GTGGCTCACGGAGGCCGCTGT	0.562000													20	52					0	0	0.000720815	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73459951	73459951	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:73459951G>A	ENST00000556143.1	-	4	1823	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.P368L|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.P368L	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	368						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAAGTCCGTGGGAGGGTTGTA	0.562000													15	40					0	0	0.000422831	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390367	38390367	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr21:38390367G>A	ENST00000329553.2	+	4	643	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		AGGTCGGCAGGAAAATGGCCC	0.632000													5	17					0	0	0.000602214	0	0
ARRDC4	91947	broad.mit.edu	37	15	98514363	98514363	+	Silent	SNP	T	T	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:98514363T>G	ENST00000268042.6	+	8	1367	c.1203T>G	c.(1201-1203)gtT>gtG	p.V401V	ARRDC4_ENST00000538249.1_Silent_p.V314V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	401					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTTTGCAGGTTGACCCACATC	0.383000													48	107					0	0	0.000781405	0	0
ALPK1	80216	broad.mit.edu	37	4	113353727	113353727	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:113353727C>T	ENST00000458497.1	+	11	3303	c.3024C>T	c.(3022-3024)caC>caT	p.H1008H	ALPK1_ENST00000177648.9_Silent_p.H1008H|ALPK1_ENST00000504176.2_Silent_p.H930H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1008			H -> P (in dbSNP:rs34079946).				ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GTCAACTCCACCGAGCACATA	0.468000													20	77					0	0	0.000175454	0	0
VEGFC	7424	broad.mit.edu	37	4	177609039	177609039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:177609039C>T	ENST00000280193.2	-	5	1162	c.747G>A	c.(745-747)tgG>tgA	p.W249*	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	249					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGTGATTATTCCACATGTAAT	0.463000													21	51					0	0	0.000229342	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119694	38119694	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:38119694C>T	ENST00000406386.3	+	7	1386	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	377					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)					AGCGGGAAAACCCCAGGACAC	0.562000													23	58					0	0	0.00047179	0	0
SCN9A	6335	broad.mit.edu	37	2	167168009	167168009	+	Splice_Site	SNP	C	C	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:167168009C>A	ENST00000375387.4	-	2	598	c.258_splice	c.e2+1	p.K86_splice	SCN9A_ENST00000409672.1_Splice_Site_p.K86_splice|SCN9A_ENST00000409435.1_Splice_Site_p.K86_splice|SCN9A_ENST00000303354.6_Splice_Site_p.K86_splice			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	86						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATAAACTCACCTTTTTGTCTG	0.423000													16	31					1.67942e-08	1.82057e-07	0.00074312	1	0
FREM2	341640	broad.mit.edu	37	13	39453036	39453036	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:39453036G>A	ENST00000280481.7	+	23	9144	c.8928G>A	c.(8926-8928)gtG>gtA	p.V2976V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2976					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACTAGCAGTGGATGACCCTG	0.438000													17	65					0	0	0.000566183	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													6	19					0	0	0.000157383	0	0
DLGAP4	22839	broad.mit.edu	37	20	35075130	35075130	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:35075130G>A	ENST00000373913.3	+	7	1918	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	DLGAP4_ENST00000373907.2_Missense_Mutation_p.E480K|DLGAP4_ENST00000339266.5_Missense_Mutation_p.E480K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E480K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	480					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGACCAGTATGAGGCGGCCTG	0.632000													6	9					0	0	3.59834e-05	0	0
SNTB1	6641	broad.mit.edu	37	8	121644849	121644849	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:121644849G>A	ENST00000395601.3	-	4	1245	c.831C>T	c.(829-831)atC>atT	p.I277I	SNTB1_ENST00000517992.1_Silent_p.I277I|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	277	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGCTCCTTAGGATCACCGTGT	0.537000													18	43					0	0	0.000295444	0	0
COL5A3	50509	broad.mit.edu	37	19	10071164	10071164	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:10071164C>T	ENST00000264828.3	-	67	5246	c.5161G>A	c.(5161-5163)Gat>Aat	p.D1721N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1721	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCGCCACATCCCACAGGGGC	0.577000													13	47					0	0	0.000219431	0	0
LBP	3929	broad.mit.edu	37	20	36999934	36999934	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:36999934G>A	ENST00000217407.2	+	12	1389	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	410					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGTAAAAGTGGAACTGAAAGA	0.383000													12	32					0	0	0.000219431	0	0
FAM47A	158724	broad.mit.edu	37	X	34149264	34149264	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:34149264C>T	ENST00000346193.3	-	1	1183	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	378								p.E378*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCTCCGCGTGGAGA	0.637000													17	14					0	0	0.000132079	0	0
BRINP1	1620	broad.mit.edu	37	9	121929380	121929380	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:121929380C>T	ENST00000265922.3	-	8	2729	c.2268G>A	c.(2266-2268)atG>atA	p.M756I	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		756					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTTTGGCTGTCATCTGGTCCG	0.478000													44	85					0	0	0.000781405	0	0
TICRR	90381	broad.mit.edu	37	15	90135386	90135386	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:90135386C>T	ENST00000268138.7	+	5	1625	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	TICRR_ENST00000560985.1_Missense_Mutation_p.S506F					TOPBP1-interacting checkpoint and replication regulator																		GGTGCCAGTTCCGATTTGATG	0.423000													17	40					0	0	0.000375601	0	0
ATG4D	84971	broad.mit.edu	37	19	10655730	10655730	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:10655730C>T	ENST00000309469.4	+	3	590	c.417C>T	c.(415-417)gaC>gaT	p.D139D	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	139					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGACCTCGGACTGTGGCTGGG	0.637000													24	71					0	0	0.00047179	0	0
METTL2A	339175	broad.mit.edu	37	17	60501662	60501662	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:60501662G>A	ENST00000311506.5	+	2	229	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	65							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GGTGTGCCAGGAGAAACAAGG	0.602000											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24					0	0	0.000274275	0	0
POLN	353497	broad.mit.edu	37	4	2083370	2083370	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:2083370G>A	ENST00000511885.2	-	22	2651	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	POLN_ENST00000382865.1_Silent_p.F766F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	766					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTTGCACCACGAAGTTCACTG	0.567000								DNA polymerases (catalytic subunits)					5	17					0	0	0.000602214	0	0
PPP5C	5536	broad.mit.edu	37	19	46891948	46891948	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:46891948G>A	ENST00000012443.4	+	11	1418	c.1315G>A	c.(1315-1317)Gga>Aga	p.G439R	PPP5C_ENST00000391919.1_Missense_Mutation_p.G311R	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	439	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GGTGGCTCACGGAGGCCGCTG	0.567000													20	53					0	0	0.000720815	0	0
ARRDC4	91947	broad.mit.edu	37	15	98514362	98514362	+	Splice_Site	SNP	T	T	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:98514362T>G	ENST00000268042.6	+	8	1366	c.1200_splice	c.e8-1	p.V401_splice	ARRDC4_ENST00000538249.1_Splice_Site_p.V314_splice	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	401					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTTTTGCAGGTTGACCCACAT	0.383000													49	106					0	0	0.000781405	0	0
ZNF569	148266	broad.mit.edu	37	19	37903510	37903510	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:37903510G>A	ENST00000316950.6	-	6	2607	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	ZNF569_ENST00000392149.2_Missense_Mutation_p.H684Y|ZNF569_ENST00000392150.2_Missense_Mutation_p.H525Y	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAATGAGTATGAATTCTCTGG	0.403000													15	52					0	0	0.000566183	0	0
CEP72	55722	broad.mit.edu	37	5	647960	647960	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:647960G>A	ENST00000264935.5	+	11	1797	c.1707G>A	c.(1705-1707)gtG>gtA	p.V569V	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	569					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GCGAGATTGTGGAACTGAAGC	0.478000													23	32					0	0	0.000147802	0	0
NTRK1	4914	broad.mit.edu	37	1	156837972	156837972	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:156837972G>A	ENST00000368196.3	+	5	625	c.505G>A	c.(505-507)Gga>Aga	p.G169R	NTRK1_ENST00000358660.3_Missense_Mutation_p.G169R|NTRK1_ENST00000524377.1_Missense_Mutation_p.G169R|NTRK1_ENST00000392302.2_Missense_Mutation_p.G139R	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	169	LRRCT.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGACTGGGCGGAGTGCCTGA	0.657000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			18	33					0	0	0.00074312	0	0
HDAC4	9759	broad.mit.edu	37	2	240055964	240055964	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:240055964G>A	ENST00000345617.3	-	11	2062	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	HDAC4_ENST00000541256.1_Missense_Mutation_p.P393L|HDAC4_ENST00000543185.1_Missense_Mutation_p.P8L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	424					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGCTTGTGCCGGCGGCTGCTC	0.672000													5	13					0	0	8.12818e-05	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88272447	88272447	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:88272447C>T	ENST00000357081.3	-	10	956	c.812G>A	c.(811-813)gGa>gAa	p.G271E	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.G109E|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.G271E|AGTPBP1_ENST00000376080.1_3'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.G323E			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	271					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTGTAAAATTCCTTTCCGAAT	0.373000													11	27					0	0	0.000673444	0	0
PRPS1	5631	broad.mit.edu	37	X	106884133	106884133	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:106884133G>A	ENST00000372435.4	+	3	430	c.306_splice	c.e3-1	p.S103_splice	PRPS1_ENST00000372428.4_Splice_Site_p.S36_splice|PRPS1_ENST00000543248.1_Splice_Site_p.S103_splice|PRPS1_ENST00000372419.3_Splice_Site_p.S103_splice|PRPS1_ENST00000372418.1_Intron	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	103					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCCATTTAGAGCCGGGCGCCA	0.378000													54	32					0	0	0.000781405	0	0
TM2D2	83877	broad.mit.edu	37	8	38852865	38852865	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:38852865G>A	ENST00000412303.1	-	2	552	c.158C>T	c.(157-159)tCc>tTc	p.S53F	TM2D2_ENST00000397070.2_Missense_Mutation_p.S53F|TM2D2_ENST00000456845.2_Missense_Mutation_p.S53F|TM2D2_ENST00000456397.2_Missense_Mutation_p.S96F|TM2D2_ENST00000522434.1_5'UTR	NM_001024380.1|NM_001024381.1|NM_031940.3	NP_001019551.1|NP_001019552.1|NP_114146.3	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	96						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AAGTTCCTGGGATGCAGTTGC	0.388000													18	57					0	0	0.00047179	0	0
NFIB	4781	broad.mit.edu	37	9	14307337	14307337	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:14307337C>T	ENST00000380959.3	-	2	686	c.213G>A	c.(211-213)aaG>aaA	p.K71K	NFIB_ENST00000397581.2_Silent_p.K71K|NFIB_ENST00000380953.1_Silent_p.K71K|NFIB_ENST00000397579.2_Silent_p.K71K|NFIB_ENST00000397575.3_Silent_p.K71K|NFIB_ENST00000380934.4_Silent_p.K97K|NFIB_ENST00000380921.3_Silent_p.K71K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	71					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TGGATGCCCACTTCTGTTTGA	0.473000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								20	20					0	0	0.000229342	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212522	100212522	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:100212522C>T	ENST00000393950.2	+	4	826	c.544C>T	c.(544-546)Ctc>Ttc	p.L182F	MOSPD3_ENST00000379527.2_Missense_Mutation_p.L182F|MOSPD3_ENST00000223054.4_Missense_Mutation_p.L182F|MOSPD3_ENST00000424091.2_Missense_Mutation_p.L172F	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	182						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGCTCCTTCCTCCTCTTCTT	0.627000													22	42					0	0	0.000375601	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431076	37431076	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:37431076C>T	ENST00000374660.1	+	7	1182	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	ANKRD30A_ENST00000361713.1_Silent_p.I361I|ANKRD30A_ENST00000602533.1_Silent_p.I361I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	417						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.393000													19	25					0	0	0.000132079	0	0
OR52D1	390066	broad.mit.edu	37	11	5510609	5510609	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:5510609C>T	ENST00000322641.5	+	1	695	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTTTATCCTCCATGCAGT	0.488000													35	95					0	0	0.000692331	0	0
ADCY10	55811	broad.mit.edu	37	1	167791356	167791356	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:167791356C>T	ENST00000367848.1	-	30	4413	c.3916G>A	c.(3916-3918)Gaa>Aaa	p.E1306K	ADCY10_ENST00000367851.4_Missense_Mutation_p.E1398K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E1245K|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1398					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCCAAACATTCTTCAAATGTT	0.403000													18	28					0	0	0.000132079	0	0
ZNF415	55786	broad.mit.edu	37	19	53612853	53612853	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:53612853C>T	ENST00000455735.2	-	7	909	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.E149K|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.E161K|ZNF415_ENST00000243643.4_Missense_Mutation_p.E149K|ZNF415_ENST00000448501.1_Missense_Mutation_p.E197K|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.E136K			Q09FC8	ZN415_HUMAN	zinc finger protein 415	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGCTGCAGTTCATGGGGATGT	0.398000													23	50					0	0	0.000375601	0	0
METAP2	10988	broad.mit.edu	37	12	95879696	95879696	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:95879696C>A	ENST00000323666.5	+	4	596	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	METAP2_ENST00000550777.1_Missense_Mutation_p.L87M|METAP2_ENST00000261220.9_Missense_Mutation_p.L100M|METAP2_ENST00000551840.1_Missense_Mutation_p.L122M|METAP2_ENST00000546753.1_Intron	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	123					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AATATGTGACCTGTATCCTAA	0.363000													8	170					0.000274275	0.0029314	0.000274275	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342254	60342254	+	RNA	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:60342254C>T	ENST00000581291.1	-	0	1899																				breast(2)|kidney(1)|lung(2)	5						GAATGTCTCTCGAGCTGCACT	0.483000													21	31					0	0	0.000132079	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013557	149013557	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:149013557G>A	ENST00000535454.1	+	4	1060	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	MAGEA8_ENST00000542674.1_Missense_Mutation_p.E171K|MAGEA8_ENST00000286482.1_Missense_Mutation_p.E171K	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	171	MAGE.							p.E171K(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TGATGTGAAGGAAGTGGACCC	0.512000													27	22					0	0	0.000586117	0	0
KIAA0232	9778	broad.mit.edu	37	4	6882551	6882551	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:6882551G>C	ENST00000307659.5	+	10	4501	c.4046G>C	c.(4045-4047)aGa>aCa	p.R1349T	KIAA0232_ENST00000425103.1_Missense_Mutation_p.R1349T	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1349							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACAGGAGAGAGAGATTCTGGA	0.473000													7	28					0	0	0.000442599	0	0
GPR98	84059	broad.mit.edu	37	5	90050855	90050855	+	Silent	SNP	T	T	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:90050855T>C	ENST00000405460.2	+	55	11529	c.11433T>C	c.(11431-11433)gaT>gaC	p.D3811D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3811					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTTGGGGATATTGCCATTC	0.363000													40	44					0	0	0.000509022	0	0
TENM4	26011	broad.mit.edu	37	11	78413364	78413364	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:78413364T>C	ENST00000278550.7	-	28	4756	c.4294A>G	c.(4294-4296)Atc>Gtc	p.I1432V		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TTTTCAGAGATTTGCAGGACC	0.547000													29	55					0	0	0.000227799	0	0
NPAP1	23742	broad.mit.edu	37	15	24921469	24921469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:24921469G>A	ENST00000329468.2	+	1	929	c.455G>A	c.(454-456)tGg>tAg	p.W152*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACCGAGGTGTGGGCCCAAGAA	0.617000													12	22					0	0	0.000151284	0	0
TSGA10	80705	broad.mit.edu	37	2	99722033	99722033	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:99722033C>T	ENST00000393483.3	-	8	1182	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	TSGA10_ENST00000355053.4_Missense_Mutation_p.R113Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.R113Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.R113Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.R113Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	113					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GGTCATTCTTCGTAAATCAGT	0.398000													54	123					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179401091	179401091	+	Silent	SNP	A	A	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:179401091A>G	ENST00000589042.1	-	357	100607	c.100383T>C	c.(100381-100383)ctT>ctC	p.L33461L	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L24396L|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342175.6_Silent_p.L24588L|TTN_ENST00000342992.6_Silent_p.L30893L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.L31820L|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.L24521L|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31820							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCGTATTCAAGACCTTCAA	0.393000													26	50					0	0	0.000878237	0	0
REEP1	65055	broad.mit.edu	37	2	86491156	86491156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:86491156C>T	ENST00000165698.5	-	3	257	c.114G>A	c.(112-114)tgG>tgA	p.W38*	REEP1_ENST00000540790.1_Nonsense_Mutation_p.W17*|REEP1_ENST00000538924.1_Nonsense_Mutation_p.W45*|REEP1_ENST00000535845.1_Nonsense_Mutation_p.W11*|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Nonsense_Mutation_p.W38*	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	38					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGTACATCATCCATTTGACCT	0.463000													9	25					0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9062146	9062146	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:9062146T>G	ENST00000397910.4	-	3	25503	c.25300A>C	c.(25300-25302)Agc>Cgc	p.S8434R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8436	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACAGTGCTTCCCTCTGTG	0.522000													20	59					0	0	0.000175454	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432817	40432817	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:40432817C>T	ENST00000372809.5	+	9	1169	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	MFSD2A_ENST00000420632.2_Silent_p.F173F|MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000372811.5_Silent_p.F329F	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	342					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCAATGAATTCCAGAATCTAC	0.547000													16	39					0	0	0.00074312	0	0
SSH1	54434	broad.mit.edu	37	12	109182005	109182005	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:109182005G>A	ENST00000326495.5	-	15	3002	c.2909C>T	c.(2908-2910)tCt>tTt	p.S970F	SSH1_ENST00000360239.3_Missense_Mutation_p.S658F	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	970	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGTGGGGAAGAGACGGTGAG	0.632000													52	115					0	0	0.000781405	0	0
ZNF462	58499	broad.mit.edu	37	9	109691314	109691314	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:109691314C>T	ENST00000277225.5	+	3	5410	c.5121C>T	c.(5119-5121)ccC>ccT	p.P1707P	ZNF462_ENST00000457913.1_Silent_p.P1707P|ZNF462_ENST00000441147.2_Silent_p.P552P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1707					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACACCAACCCCATCCGCAAAG	0.567000													10	27					0	0	6.40141e-05	0	0
ALPK1	80216	broad.mit.edu	37	4	113353728	113353728	+	Silent	SNP	C	C	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:113353728C>A	ENST00000458497.1	+	11	3304	c.3025C>A	c.(3025-3027)Cga>Aga	p.R1009R	ALPK1_ENST00000177648.9_Silent_p.R1009R|ALPK1_ENST00000504176.2_Silent_p.R931R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1009							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCAACTCCACCGAGCACATAG	0.468000													21	74					1.28384e-07	1.38515e-06	0.000229342	1	0
MYH2	4620	broad.mit.edu	37	17	10430322	10430322	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:10430322G>A	ENST00000245503.5	-	29	4307	c.3923C>T	c.(3922-3924)tCa>tTa	p.S1308L	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1308L|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1308					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1308*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTGCCTCTTGATAACTGAGA	0.373000													13	38					0	0	0.000151284	0	0
CELF4	56853	broad.mit.edu	37	18	34854416	34854416	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:34854416C>T	ENST00000420428.2	-	6	1054	c.657_splice	c.e6-1	p.G220_splice	CELF4_ENST00000603232.1_Splice_Site_p.G220_splice|CELF4_ENST00000361795.5_Splice_Site_p.G219_splice|CELF4_ENST00000588597.1_Splice_Site_p.G209_splice|CELF4_ENST00000591287.1_Splice_Site_p.G219_splice|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Splice_Site_p.G210_splice|CELF4_ENST00000601019.1_Splice_Site_p.G219_splice|CELF4_ENST00000412753.1_Splice_Site_p.G220_splice|CELF4_ENST00000591282.1_Splice_Site_p.G220_splice	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	220	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGACGAGGCTCCCTGCGGCCG	0.711000													21	49					0	0	0.000295444	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396150	77396150	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:77396150C>T	ENST00000282849.5	-	7	1486	c.1068G>A	c.(1066-1068)ttG>ttA	p.L356L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	356	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GATGGTTGATCAATAATCCTC	0.408000													11	27					0	0	0.000673444	0	0
MEP1B	4225	broad.mit.edu	37	18	29790524	29790524	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:29790524T>C	ENST00000269202.6	+	10	1027	c.980T>C	c.(979-981)cTg>cCg	p.L327P	MEP1B_ENST00000581447.1_Missense_Mutation_p.L327P	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	327	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACAGCAGTGCTGGAAAGTAGA	0.408000													15	30					0	0	0.000422831	0	0
CSMD2	114784	broad.mit.edu	37	1	34006261	34006261	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:34006261C>T	ENST00000373381.4	-	60	9671	c.9495G>A	c.(9493-9495)ggG>ggA	p.G3165G		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3139	Sushi 25.					integral to membrane|plasma membrane	protein binding	p.G3021G(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACCACCTTCCCATTGGGGA	0.602000													12	26					0	0	0.000219431	0	0
IMPA2	3613	broad.mit.edu	37	18	12028930	12028930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:12028930G>A	ENST00000269159.3	+	7	931	c.689G>A	c.(688-690)tGg>tAg	p.W230*	IMPA2_ENST00000588927.1_Nonsense_Mutation_p.W41*|IMPA2_ENST00000589238.1_Nonsense_Mutation_p.W41*	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	230					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CTGCACTGCTGGGATCTGGCG	0.597000													13	29					0	0	0.00010058	0	0
PLXNB1	5364	broad.mit.edu	37	3	48453414	48453414	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:48453414G>A	ENST00000358536.4	-	28	5374	c.5105C>T	c.(5104-5106)tCc>tTc	p.S1702F	PLXNB1_ENST00000296440.6_Missense_Mutation_p.S1702F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.S1519F|PLXNB1_ENST00000448774.2_Missense_Mutation_p.S313F|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S1519F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1702					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCCCTACGGAGTCCTAGGA	0.572000													35	79					0	0	0.000814825	0	0
OR1L3	26735	broad.mit.edu	37	9	125437994	125437994	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:125437994G>A	ENST00000304820.2	+	1	680	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CTTTGTCAATGAAATTGTGGC	0.433000													44	107					0	0	0.000781405	0	0
SEC16A	9919	broad.mit.edu	37	9	139353682	139353682	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:139353682G>A	ENST00000313050.7	-	15	5386	c.5313C>T	c.(5311-5313)ttC>ttT	p.F1771F	SEC16A_ENST00000371706.3_Silent_p.F1593F|SEC16A_ENST00000290037.6_Silent_p.F1593F|SEC16A_ENST00000431893.2_Silent_p.F1593F	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1593	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGAACTTTAAGAATGGCAAAC	0.473000													26	41					0	0	0.000878237	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524513	26524513	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:26524513T>G	ENST00000456354.2	+	5	690	c.623T>G	c.(622-624)cTg>cGg	p.L208R		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	208					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGTCATCCTGCAGTCGGTG	0.637000													42	97					0	0	0.000781405	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661959	77661959	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:77661959C>T	ENST00000296043.6	+	5	3586	c.2633C>T	c.(2632-2634)cCc>cTc	p.P878L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	878					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCGTGGCCCCCAGAGGCCG	0.697000													8	15					0	0	0.000157383	0	0
C1orf173	127254	broad.mit.edu	37	1	75037410	75037410	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:75037410C>T	ENST00000326665.5	-	14	4202	c.3984G>A	c.(3982-3984)aaG>aaA	p.K1328K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1328	Glu-rich.							p.K1328K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCCCTCATTCTTTTGTGTGT	0.557000													30	81					0	0	0.000339439	0	0
PCDH18	54510	broad.mit.edu	37	4	138442609	138442609	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:138442609C>T	ENST00000344876.4	-	4	3368	c.2982G>A	c.(2980-2982)gaG>gaA	p.E994E	PCDH18_ENST00000412923.2_Silent_p.E993E|PCDH18_ENST00000511115.1_Silent_p.E174E|PCDH18_ENST00000510305.1_Silent_p.E205E|PCDH18_ENST00000507846.1_Silent_p.E773E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	994	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCCCAGTGTCCTCATCGTTTG	0.507000													10	21					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179612686	179612686	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:179612686C>T	ENST00000360870.5	-	46	14663	c.14441G>A	c.(14440-14442)gGt>gAt	p.G4814D	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	924	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAACATCACCTCTGTGGTC	0.468000													18	29					0	0	0.00074312	0	0
METTL2A	339175	broad.mit.edu	37	17	60501661	60501661	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:60501661G>A	ENST00000311506.5	+	2	228	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	64							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GGGTGTGCCAGGAGAAACAAG	0.607000											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24					0	0	0.000274275	0	0
STRN	6801	broad.mit.edu	37	2	37096793	37096793	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:37096793G>A	ENST00000263918.4	-	11	1411	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	STRN_ENST00000379213.2_Missense_Mutation_p.A419V	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	468					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GAAAGCAAGGGCTCGGATGCC	0.383000													13	23					0	0	0.000422831	0	0
RASSF8	11228	broad.mit.edu	37	12	26217895	26217895	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:26217895G>A	ENST00000405154.2	+	3	767	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	RASSF8_ENST00000282884.9_Missense_Mutation_p.E190K|RASSF8_ENST00000542865.1_Missense_Mutation_p.E190K|RASSF8_ENST00000381352.3_Missense_Mutation_p.E190K|RASSF8_ENST00000541490.1_Missense_Mutation_p.E190K	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	190	Glu-rich.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TAATGAAATAGAAATAAGATT	0.373000													15	39					0	0	0.000308642	0	0
RGL4	266747	broad.mit.edu	37	22	24034621	24034621	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:24034621G>A	ENST00000290691.5	+	2	1449	c.279G>A	c.(277-279)agG>agA	p.R93R	GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	93					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGGCCTTCAGGAACCTCTCCT	0.562000													30	59					0	0	0.000147802	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64606355	64606355	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:64606355G>A	ENST00000342711.5	-	8	895	c.896C>T	c.(895-897)cCg>cTg	p.P299L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	299	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGGCACGTCCGGGGGGAACTG	0.672000													6	17					0	0	0.000157383	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804148	160804148	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:160804148G>A	ENST00000392781.2	-	8	1142	c.395C>T	c.(394-396)tCc>tTc	p.S132F	B3GALNT1_ENST00000320474.4_Missense_Mutation_p.S132F|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.S132F|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.S132F|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.S132F|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.S132F	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	132					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			ATCCTCTAAGGACAATGCCAA	0.383000													23	61					0	0	0.00047179	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710060	112710060	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:112710060G>A	ENST00000383677.3	+	1	229	c.214G>A	c.(214-216)Gac>Aac	p.D72N	GTPBP8_ENST00000383678.2_Missense_Mutation_p.D72N	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	72					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GCGTATCTTTGACCCAAGCCC	0.622000													10	26					0	0	6.40141e-05	0	0
OR6F1	343169	broad.mit.edu	37	1	247875625	247875625	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:247875625C>T	ENST00000302084.2	-	1	480	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAGCCCAGGGCCAGCTGCGCT	0.587000													7	40					0	0	0.000157383	0	0
OR5P2	120065	broad.mit.edu	37	11	7817741	7817741	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:7817741G>A	ENST00000329434.2	-	1	779	c.749C>T	c.(748-750)aCc>aTc	p.T250I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGGTAATGGTCCCATAGAA	0.502000													22	51					0	0	0.000295444	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598182	46598182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:46598182G>A	ENST00000398637.5	-	11	1418	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000546893.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000549049.1_Nonsense_Mutation_p.Q242*	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	242					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAGGGAATTTGAAATTTCTTG	0.323000													36	66					0	0	0.000814825	0	0
MYO15A	51168	broad.mit.edu	37	17	18022335	18022335	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:18022335G>A	ENST00000205890.5	+	2	559	c.221G>A	c.(220-222)aGg>aAg	p.R74K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	74	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAGCGCAAGAGGAAGGCCCGC	0.622000													7	6					0	0	0.000274275	0	0
OR9G1	390174	broad.mit.edu	37	11	56468739	56468739	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:56468739G>A	ENST00000312153.1	+	1	876	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACAGCCTAAGGAATAAGGATG	0.388000													17	42					0	0	0.00074312	0	0
GEM	2669	broad.mit.edu	37	8	95262563	95262563	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:95262563G>A	ENST00000297596.2	-	5	1130	c.866C>T	c.(865-867)tCc>tTc	p.S289F	GEM_ENST00000396194.2_Missense_Mutation_p.S289F	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	289					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCATGGCAGGATTTGGACTT	0.493000													16	50					0	0	0.000132079	0	0
AGO1	26523	broad.mit.edu	37	1	36379791	36379791	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:36379791C>T	ENST00000373204.4	+	14	1962	c.1749C>T	c.(1747-1749)gcC>gcT	p.A583A	AGO1_ENST00000373206.1_Silent_p.A508A	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TCAGCTCTGCCGTTTTTCAAC	0.502000													31	59					0	0	0.00058488	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706636	26706636	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:26706636G>A	ENST00000529632.2	+	7	1711	c.1514_splice	c.e7-1	p.R505_splice	SEZ6L_ENST00000343706.4_Splice_Site_p.R505_splice|SEZ6L_ENST00000248933.6_Splice_Site_p.R505_splice|SEZ6L_ENST00000403121.1_Splice_Site_p.R278_splice|SEZ6L_ENST00000402979.1_Splice_Site_p.R278_splice|SEZ6L_ENST00000360929.3_Splice_Site_p.R505_splice|SEZ6L_ENST00000404234.3_Splice_Site_p.R505_splice	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	505	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCACTGCCAGGATGACGGTTC	0.562000													9	31					0	0	0.000442599	0	0
DEPDC5	9681	broad.mit.edu	37	22	32200897	32200897	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:32200897C>T	ENST00000400246.1	+	17	1355	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	DEPDC5_ENST00000266091.3_Missense_Mutation_p.H405Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.H405Y|DEPDC5_ENST00000382111.2_Missense_Mutation_p.H405Y|DEPDC5_ENST00000400242.3_Missense_Mutation_p.H405Y|DEPDC5_ENST00000400248.1_Missense_Mutation_p.H405Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.H405Y|DEPDC5_ENST00000400249.2_Missense_Mutation_p.H405Y|DEPDC5_ENST00000382112.3_Missense_Mutation_p.H405Y|DEPDC5_ENST00000536766.1_Missense_Mutation_p.H377Y			O75140	DEPD5_HUMAN	DEP domain containing 5	405					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGGATAAACCACAGGTGGGT	0.428000													43	92					0	0	0.000680045	0	0
C1orf86	199990	broad.mit.edu	37	1	2125233	2125233	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:2125233G>A	ENST00000400919.3	-	0	306				C1orf86_ENST00000378546.4_Silent_p.H105H|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378545.3_Silent_p.H208H			Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86											central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTCCTGCCCCGTGAAGCAGCC	0.697000													7	12					0	0	0.000274275	0	0
ANO1	55107	broad.mit.edu	37	11	70007349	70007349	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:70007349C>T	ENST00000355303.5	+	17	1966	c.1661C>T	c.(1660-1662)cCc>cTc	p.P554L	ANO1_ENST00000530676.1_Missense_Mutation_p.P408L|ANO1_ENST00000398543.2_Missense_Mutation_p.P408L|ANO1_ENST00000531349.1_Missense_Mutation_p.P263L|ANO1_ENST00000538023.1_Missense_Mutation_p.P554L|ANO1_ENST00000316296.5_Missense_Mutation_p.P496L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	554					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AACTCCTCCCCCTCCGTGCGG	0.592000													16	42					0	0	0.000566183	0	0
EHMT1	79813	broad.mit.edu	37	9	140729342	140729342	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:140729342C>T	ENST00000460843.1	+	27	3861	c.3834C>T	c.(3832-3834)gcC>gcT	p.A1278A		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1278					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCAGCGCGGCCCAGGAGGCCC	0.741000													7	4					0	0	8.12818e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													5	72					0	0	8.12818e-05	0	0
NOBOX	135935	broad.mit.edu	37	7	144101719	144101719	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:144101719C>T	ENST00000467773.1	-	2	139	c.140G>A	c.(139-141)gGa>gAa	p.G47E	NOBOX_ENST00000483238.1_Missense_Mutation_p.G47E	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	47					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCCACAGACTCCGTAGATCCG	0.572000													13	47					0	0	0.000219431	0	0
SYDE2	84144	broad.mit.edu	37	1	85624749	85624749	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:85624749C>T	ENST00000341460.5	-	7	3318	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1090					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GCTCCAGTCTCCTGCATAACG	0.383000													58	108					0	0	0.000781405	0	0
GKN1	56287	broad.mit.edu	37	2	69207947	69207947	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:69207947G>A	ENST00000377938.2	+	6	655	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	198					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						AGACACGGTGGAGAACTAAAC	0.393000													18	30					0	0	0.000132079	0	0
DDX60	55601	broad.mit.edu	37	4	169204660	169204660	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:169204660G>A	ENST00000393743.3	-	13	1950	c.1659C>T	c.(1657-1659)atC>atT	p.I553I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	553							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GAGTCACGATGATTTTCGAAG	0.348000													19	33					0	0	0.000132079	0	0
LGI1	9211	broad.mit.edu	37	10	95557310	95557310	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:95557310G>A	ENST00000371418.4	+	8	1684	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.G427E	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	475					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CCATCGCGAGGATCCATGGTG	0.428000													16	14					0	0	0.000308642	0	0
DHX33	56919	broad.mit.edu	37	17	5359376	5359376	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:5359376G>A	ENST00000225296.3	-	5	1176	c.976C>T	c.(976-978)Cct>Tct	p.P326S	DHX33_ENST00000433302.3_Missense_Mutation_p.S139F	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	326	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCGTACAGAGGAAGGACCAGC	0.607000													10	12					0	0	0.000673444	0	0
ATP11B	23200	broad.mit.edu	37	3	182545993	182545993	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:182545993T>G	ENST00000323116.5	+	3	490	c.230T>G	c.(229-231)gTt>gGt	p.V77G	ATP11B_ENST00000493826.1_Missense_Mutation_p.V77G	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	77					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATATTTTTGGTTCAGGTAAGC	0.269000													21	56					0	0	0.000229342	0	0
DSG1	1828	broad.mit.edu	37	18	28909955	28909955	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr18:28909955C>T	ENST00000257192.4	+	5	685	c.473C>T	c.(472-474)tCa>tTa	p.S158L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	158	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCAGTGTTTTCAATGGCTACA	0.433000													20	35					0	0	0.000175454	0	0
MORC1	27136	broad.mit.edu	37	3	108725917	108725917	+	Missense_Mutation	SNP	C	C	T	rs138435095		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:108725917C>T	ENST00000232603.5	-	18	1808	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	576					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E576K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGTGATTTCGTCCACTGGT	0.363000													15	35					0	0	0.000308642	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384058	62384058	+	Missense_Mutation	SNP	G	G	A	rs149098151		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:62384058G>A	ENST00000531383.1	-	4	1035	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	B3GAT3_ENST00000534026.1_Missense_Mutation_p.R277W|B3GAT3_ENST00000265471.5_Missense_Mutation_p.R277W			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	277					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AGGTGGCCCCGGGGAGCGGTG	0.612000													19	33					0	0	0.000175454	0	0
PKD1	5310	broad.mit.edu	37	16	2140588	2140588	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:2140588C>T	ENST00000262304.4	-	45	12350	c.12142G>A	c.(12142-12144)Gtg>Atg	p.V4048M	PKD1_ENST00000423118.1_Missense_Mutation_p.V4047M	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4048					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGGAAGACACGAGCTGCGGG	0.662000													5	4					0	0	0.000602214	0	0
SPEF2	79925	broad.mit.edu	37	5	35753855	35753855	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:35753855C>A	ENST00000440995.2	+	24	3445	c.3445C>A	c.(3445-3447)Ctg>Atg	p.L1149M	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.L1154M			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1154					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCTTTTCCCTGATGCAGGT	0.488000													32	96					3.90053e-15	4.28964e-14	0.000409698	1	0
EFHC1	114327	broad.mit.edu	37	6	52344018	52344018	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:52344018A>T	ENST00000371068.5	+	8	1565	c.1462A>T	c.(1462-1464)Agt>Tgt	p.S488C	EFHC1_ENST00000538167.1_Missense_Mutation_p.S469C|EFHC1_ENST00000433625.2_Missense_Mutation_p.S397C	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	488	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CTATGGCCCCAGTGACTTCTT	0.433000													21	49					0	0	0.000229342	0	0
CRTC1	23373	broad.mit.edu	37	19	18882306	18882306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:18882306C>T	ENST00000338797.6	+	12	1448	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Missense_Mutation_p.P459S|CRTC1_ENST00000594658.1_Missense_Mutation_p.P418S	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	459					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CAACCAGTCTCCCACCTCGCC	0.677000													9	14					0	0	6.40141e-05	0	0
BIN2	51411	broad.mit.edu	37	12	51695844	51695844	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:51695844C>T	ENST00000267012.4	-	5	429	c.368G>A	c.(367-369)aGg>aAg	p.R123K	BIN2_ENST00000604560.1_Missense_Mutation_p.R96K|BIN2_ENST00000544402.1_Missense_Mutation_p.R97K|BIN2_ENST00000452142.2_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	123	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTCCATGGTCCTTACAGCCTG	0.463000													11	36					0	0	6.40141e-05	0	0
OR4D9	390199	broad.mit.edu	37	11	59283138	59283138	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:59283138C>T	ENST00000329328.3	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562000													67	94					0	0	0.000781405	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512299	15512299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:15512299G>A	ENST00000397410.4	-	5	542	c.478C>T	c.(478-480)Caa>Taa	p.Q160*	AKAP8L_ENST00000595465.1_Nonsense_Mutation_p.Q99*|AKAP8L_ENST00000595136.1_Intron	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	160						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCATCGTATTGGCCCTCATAG	0.647000													10	10					0	0	0.00010058	0	0
ALG12	79087	broad.mit.edu	37	22	50307357	50307357	+	Silent	SNP	G	G	A	rs145640635		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:50307357G>A	ENST00000330817.5	-	2	330	c.57C>T	c.(55-57)gcC>gcT	p.A19A		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	19					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTGGCTACGGCCACCAGCA	0.602000													23	59					0	0	0.000720815	0	0
ATP11B	23200	broad.mit.edu	37	3	182545994	182545994	+	Silent	SNP	T	T	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:182545994T>A	ENST00000323116.5	+	3	491	c.231T>A	c.(229-231)gtT>gtA	p.V77V	ATP11B_ENST00000493826.1_Silent_p.V77V	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	77					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TATTTTTGGTTCAGGTAAGCT	0.274000													21	56					0	0	0.000229342	0	0
ATP2C2	9914	broad.mit.edu	37	16	84442070	84442070	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:84442070G>A	ENST00000416219.2	+	4	476	c.387G>A	c.(385-387)aaG>aaA	p.K129K	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.K129K			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	129					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCCTCACCAAGGAGTATGAGG	0.587000													10	19					0	0	6.40141e-05	0	0
USP43	124739	broad.mit.edu	37	17	9590126	9590126	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:9590126C>T	ENST00000570827.2	+	8	1394	c.320C>T	c.(319-321)cCc>cTc	p.P107L	USP43_ENST00000285199.6_Missense_Mutation_p.P418L|USP43_ENST00000570475.1_Missense_Mutation_p.P418L|USP43_ENST00000575346.1_3'UTR			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	418					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTTGGGCCACCCTTCCTGATA	0.522000													4	13					0	0	0.00024832	0	0
NLRP2	55655	broad.mit.edu	37	19	55481567	55481567	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:55481567C>T	ENST00000543010.1	+	2	327	c.184C>T	c.(184-186)Cat>Tat	p.H62Y	NLRP2_ENST00000427260.2_Intron|NLRP2_ENST00000448584.2_Missense_Mutation_p.H62Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.H62Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.H62Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.H62Y|NLRP2_ENST00000263437.6_Missense_Mutation_p.H62Y|NLRP2_ENST00000391721.4_Missense_Mutation_p.H62Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	62	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTCACCACCCATTGTGACAG	0.527000													22	51					0	0	0.000229342	0	0
KIAA1109	84162	broad.mit.edu	37	4	123109071	123109071	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:123109071C>T	ENST00000264501.4	+	9	1022	c.649C>T	c.(649-651)Cac>Tac	p.H217Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H217Y|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H217Y			Q2LD37	K1109_HUMAN	KIAA1109	217					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTTGGAAATCACTACCAGCC	0.333000													25	32					0	0	0.000878237	0	0
LMOD3	56203	broad.mit.edu	37	3	69171272	69171272	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:69171272C>T	ENST00000420581.2	-	1	445	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	LMOD3_ENST00000489031.1_Missense_Mutation_p.R89Q|LMOD3_ENST00000475434.1_Missense_Mutation_p.R89Q	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	89	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GACAGGAACTCGTTCCTCTTC	0.458000													5	11					0	0	3.59834e-05	0	0
TP63	8626	broad.mit.edu	37	3	189612269	189612269	+	Missense_Mutation	SNP	G	G	A	rs34713855	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:189612269G>A	ENST00000264731.3	+	14	2110	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	TP63_ENST00000440651.2_Missense_Mutation_p.R670H|TP63_ENST00000449992.1_Missense_Mutation_p.R495H|TP63_ENST00000456148.1_Missense_Mutation_p.R576H|TP63_ENST00000354600.5_Missense_Mutation_p.R580H|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Missense_Mutation_p.R589H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	674	Transactivation inhibition.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AAGCAACAGCGCATCAAAGAG	0.537000										HNSCC(45;0.13)			11	23					0	0	0.00010058	0	0
MTIF2	4528	broad.mit.edu	37	2	55490859	55490859	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:55490859C>T	ENST00000394600.3	-	5	872	c.136G>A	c.(136-138)Gct>Act	p.A46T	MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Missense_Mutation_p.A46T|MTIF2_ENST00000263629.4_Missense_Mutation_p.A46T	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	46					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CACAGTTGAGCTGTCCACACA	0.453000													34	50					0	0	0.00058488	0	0
TM2D2	83877	broad.mit.edu	37	8	38852864	38852864	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:38852864G>A	ENST00000412303.1	-	2	553	c.159C>T	c.(157-159)tcC>tcT	p.S53S	TM2D2_ENST00000397070.2_Silent_p.S53S|TM2D2_ENST00000456845.2_Silent_p.S53S|TM2D2_ENST00000456397.2_Silent_p.S96S|TM2D2_ENST00000522434.1_5'UTR	NM_001024380.1|NM_001024381.1|NM_031940.3	NP_001019551.1|NP_001019552.1|NP_114146.3	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	96						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CAAGTTCCTGGGATGCAGTTG	0.383000													17	59					0	0	0.000229342	0	0
DSCAM	1826	broad.mit.edu	37	21	41447102	41447102	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr21:41447102C>T	ENST00000400454.1	-	27	5227	c.4750G>A	c.(4750-4752)Gaa>Aaa	p.E1584K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1584					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCCCTTCTTCGTTTTGGACA	0.527000													9	30					0	0	0.000442599	0	0
SEPT4	5414	broad.mit.edu	37	17	56599115	56599115	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:56599115C>T	ENST00000457347.2	-	8	1086	c.942G>A	c.(940-942)gtG>gtA	p.V314V	SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000317268.3_Silent_p.V299V|SEPT4_ENST00000580844.1_Silent_p.V200V|SEPT4_ENST00000579371.1_Silent_p.V200V|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Silent_p.V291V|SEPT4_ENST00000583114.1_Silent_p.V152V|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317256.6_Silent_p.V280V|SEPT4_ENST00000393086.1_Silent_p.V280V	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	299					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTGTGGTCCACTTCGGGAG	0.567000													17	45					0	0	0.000566183	0	0
CCDC33	80125	broad.mit.edu	37	15	74627405	74627405	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:74627405G>A	ENST00000321288.5	+	21	2826	c.2826G>A	c.(2824-2826)tcG>tcA	p.S942S	CCDC33_ENST00000558821.1_Silent_p.S298S|CCDC33_ENST00000398814.3_Silent_p.S705S|CCDC33_ENST00000268082.4_Silent_p.S332S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	908							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCACCCCTCGAACTCCATCA	0.587000													24	68					0	0	0.000586117	0	0
HEATR6	63897	broad.mit.edu	37	17	58134512	58134512	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:58134512G>A	ENST00000184956.6	-	12	1992	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	HEATR6_ENST00000585976.1_Missense_Mutation_p.S659F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	659							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TACGACAATGGAAATGCAGAG	0.557000													24	60					0	0	0.000147802	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713843	70713843	+	RNA	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:70713843C>T	ENST00000530196.1	-	0	675					NR_003951.1																						CGTGCTACTTCCTTCTCTGTT	0.453000													13	40					0	0	0.000151284	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989726	64989726	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:64989726G>A	ENST00000358738.3	+	2	1895	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	ZBTB1_ENST00000554015.1_Missense_Mutation_p.D502N|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.D502N	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CGAAATAAGAGATATGTTTGT	0.403000													25	51					0	0	0.000375601	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21790021	21790021	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:21790021G>A	ENST00000206660.6	+	13	1620	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	RPGRIP1_ENST00000400017.2_Silent_p.L540L|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000557771.1_Silent_p.L513L|RPGRIP1_ENST00000556336.1_Silent_p.L513L|RPGRIP1_ENST00000382933.4_Silent_p.L182L			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	540					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGGAGGAACTGGAGGCAATGA	0.408000													6	12					0	0	0.000157383	0	0
DHX35	60625	broad.mit.edu	37	20	37632434	37632434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:37632434C>T	ENST00000252011.3	+	11	928	c.895C>T	c.(895-897)Cga>Tga	p.R299*	DHX35_ENST00000373325.2_Nonsense_Mutation_p.R299*|DHX35_ENST00000373323.4_Nonsense_Mutation_p.R268*	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	299	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CGAGCAGGCTCGAGCACTAGC	0.468000													24	54					0	0	0.000720815	0	0
PEX11B	8799	broad.mit.edu	37	1	145522896	145522896	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:145522896C>T	ENST00000369306.3	+	4	906	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	PEX11B_ENST00000537888.1_Missense_Mutation_p.P239S	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	253	Interaction with PEX19 and peroxisome targeting.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTAATCTATCCCTGGCTACG	0.552000													25	44					0	0	0.000878237	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				21	48					0	0	0.00047179	0	0
ADAM15	8751	broad.mit.edu	37	1	155028324	155028324	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:155028324C>T	ENST00000356955.2	+	7	772	c.671C>T	c.(670-672)tCg>tTg	p.S224L	ADAM15_ENST00000355956.2_Missense_Mutation_p.S224L|ADAM15_ENST00000360674.4_Missense_Mutation_p.S224L|ADAM15_ENST00000271836.6_Missense_Mutation_p.S224L|ADAM15_ENST00000531455.1_Missense_Mutation_p.S234L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.S224L|ADAM15_ENST00000368412.3_Missense_Mutation_p.S224L|ADAM15_ENST00000359280.4_Missense_Mutation_p.S224L|ADAM15_ENST00000447332.3_Missense_Mutation_p.S208L|ADAM15_ENST00000368410.2_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	224	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTGATCACTCGGAGGTGAGC	0.572000													23	45					0	0	0.000375601	0	0
OR5T1	390155	broad.mit.edu	37	11	56043805	56043805	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:56043805G>A	ENST00000313033.2	+	1	777	c.691G>A	c.(691-693)Ggt>Agt	p.G231S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GATCTCCTATGGTTTTATTCT	0.418000													39	92					0	0	0.000191422	0	0
DDX60	55601	broad.mit.edu	37	4	169204743	169204743	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:169204743G>A	ENST00000393743.3	-	13	1867	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	526							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAACACGAGGGTCTCTAGAT	0.318000													10	26					0	0	0.000673444	0	0
MPP2	4355	broad.mit.edu	37	17	41955276	41955276	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:41955276G>A	ENST00000269095.4	-	13	1862	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	MPP2_ENST00000520305.1_Silent_p.L381L|MPP2_ENST00000377184.3_Silent_p.L537L|MPP2_ENST00000518766.1_Silent_p.L565L|MPP2_ENST00000461854.1_Silent_p.L544L|MPP2_ENST00000536246.1_Silent_p.L509L|MPP2_ENST00000523501.1_Silent_p.L509L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	544	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTATTGACCAGGCAGAGGTCA	0.637000													17	23					0	0	0.000132079	0	0
MYH15	22989	broad.mit.edu	37	3	108117571	108117571	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:108117571G>A	ENST00000273353.3	-	36	5162	c.5106C>T	c.(5104-5106)tcC>tcT	p.S1702S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1702						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTCTTGCAGGGACCTTAGAT	0.522000													61	135					0	0	0.000781405	0	0
TECTA	7007	broad.mit.edu	37	11	121028933	121028933	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:121028933G>A	ENST00000392793.1	+	14	4960	c.4689_splice	c.e14+1	p.K1563_splice	TECTA_ENST00000264037.2_Splice_Site_p.K1563_splice			O75443	TECTA_HUMAN	tectorin alpha	1563	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACACGGTCAAGGTAACCAGCC	0.532000													21	27					0	0	0.000175454	0	0
ARNTL2	56938	broad.mit.edu	37	12	27533206	27533206	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:27533206G>A	ENST00000544915.1	+	4	470	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	ARNTL2_ENST00000266503.5_Missense_Mutation_p.R118Q|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R70Q|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R81Q|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R33Q|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R104Q|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R81Q	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	118					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACTGAAAAGCGGAGGAGAGAT	0.443000													13	24					0	0	0.000422831	0	0
CASS4	57091	broad.mit.edu	37	20	55033749	55033749	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:55033749G>A	ENST00000371336.3	+	6	2508	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	CASS4_ENST00000360314.3_Silent_p.A769A|CASS4_ENST00000434344.1_Silent_p.A332A	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	769					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACCTCCAGGCGGAGGCTGAGA	0.627000													4	21					0	0	3.59834e-05	0	0
SCRN2	90507	broad.mit.edu	37	17	45915659	45915659	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:45915659G>A	ENST00000407215.3	-	7	1177	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	SCRN2_ENST00000584123.1_Silent_p.L374L|SCRN2_ENST00000290216.9_Silent_p.L366L			Q96FV2	SCRN2_HUMAN	secernin 2	366					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						ATCAGCCCCAGGGCTGCCTGG	0.592000													7	40					0	0	8.12818e-05	0	0
TMC7	79905	broad.mit.edu	37	16	19056266	19056266	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:19056266C>T	ENST00000421369.3	+	10	1626	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	TMC7_ENST00000304381.5_Silent_p.I466I|TMC7_ENST00000569532.1_Silent_p.I466I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	466						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCTCCAAGATCACATCCTGTG	0.582000													26	61					0	0	0.000147802	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219204	44219204	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:44219204C>T	ENST00000371554.1	+	8	1387	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	HSP90AB1_ENST00000371646.5_Silent_p.S391S|HSP90AB1_ENST00000353801.3_Silent_p.S391S			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	391					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGAACATCTCCCGAGAAATGC	0.468000													9	17					0	0	0.000673444	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508179	37508179	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:37508179C>T	ENST00000374660.1	+	40	3827	c.3728C>T	c.(3727-3729)tCt>tTt	p.S1243F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S1124F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S1124F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1180						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATGCTCACTTCTAAATTGAAG	0.383000													57	44					0	0	0.000781405	0	0
ASAP1	50807	broad.mit.edu	37	8	131124416	131124416	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:131124416G>A	ENST00000357668.1	-	23	2352	c.2325C>T	c.(2323-2325)ttC>ttT	p.F775F	ASAP1_ENST00000518721.1_Silent_p.F775F			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	775					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.F775F(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGTGGAAACGAAGATCTGGT	0.587000													27	51					0	0	0.000720815	0	0
IL1R1	3554	broad.mit.edu	37	2	102789291	102789291	+	Silent	SNP	A	A	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:102789291A>T	ENST00000410023.1	+	9	1302	c.984A>T	c.(982-984)atA>atT	p.I328I	IL1R1_ENST00000409288.1_Silent_p.I328I|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_Silent_p.I328I|IL1R1_ENST00000409929.1_Silent_p.I328I|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.I328I|IL1R1_ENST00000233946.3_Silent_p.I328I			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	328	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TCCAGTTAATATATCCAGGTA	0.313000													15	41					0	0	0.000308642	0	0
COL3A1	1281	broad.mit.edu	37	2	189849645	189849645	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:189849645C>T	ENST00000304636.3	+	2	409	c.239C>T	c.(238-240)cCa>cTa	p.P80L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P80L	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	80	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAGAAATTCCATTTGGAGAA	0.413000													11	33					0	0	6.40141e-05	0	0
EXPH5	23086	broad.mit.edu	37	11	108409805	108409805	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:108409805G>A	ENST00000265843.4	-	3	499	c.389C>T	c.(388-390)tCa>tTa	p.S130L	EXPH5_ENST00000525344.1_Missense_Mutation_p.S123L|EXPH5_ENST00000428840.1_Missense_Mutation_p.S54L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	130					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTCCTGAATGAGAACAGGGA	0.408000													40	95					0	0	0.000319135	0	0
PFDN4	5203	broad.mit.edu	37	20	52831950	52831950	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:52831950G>A	ENST00000371419.2	+	3	498	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	82					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			TTCTCAAGAAGAAACGCAAGA	0.318000													14	36					0	0	0.000219431	0	0
LGMN	5641	broad.mit.edu	37	14	93176153	93176153	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:93176153G>A	ENST00000393218.2	-	12	1221	c.884C>T	c.(883-885)cCc>cTc	p.P295L	LGMN_ENST00000555699.1_Missense_Mutation_p.P295L|LGMN_ENST00000557434.1_Missense_Mutation_p.P295L|LGMN_ENST00000334869.4_Missense_Mutation_p.P295L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	295					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TGGAGGTAGGGGGACGGGAGA	0.522000													25	54					0	0	0.000878237	0	0
NALCN	259232	broad.mit.edu	37	13	101762972	101762972	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:101762972C>T	ENST00000251127.6	-	20	2443	c.2362G>A	c.(2362-2364)Gat>Aat	p.D788N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	788						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.D788N(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACTTACATCTTGAGTCAAA	0.388000													26	52					0	0	0.000184323	0	0
PRLR	5618	broad.mit.edu	37	5	35070305	35070305	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:35070305G>A	ENST00000382002.5	-	7	1032	c.606C>T	c.(604-606)taC>taT	p.Y202Y	PRLR_ENST00000310101.5_Silent_p.Y202Y|PRLR_ENST00000513753.1_Silent_p.Y202Y|PRLR_ENST00000542609.1_Silent_p.Y202Y|PRLR_ENST00000397391.3_Silent_p.Y131Y|PRLR_ENST00000231423.3_Silent_p.Y202Y|PRLR_ENST00000348262.3_Silent_p.Y202Y|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Silent_p.Y101Y|PRLR_ENST00000511486.1_Silent_p.Y101Y	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	202	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTGGACAAGGTATTTCTGTC	0.448000													11	47					0	0	0.000151284	0	0
SP140	11262	broad.mit.edu	37	2	231113639	231113639	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:231113639G>A	ENST00000392045.3	+	9	1046	c.932G>A	c.(931-933)gGa>gAa	p.G311E	SP140_ENST00000343805.6_Missense_Mutation_p.G285E|SP140_ENST00000417495.3_Missense_Mutation_p.G258E|SP140_ENST00000350136.5_Missense_Mutation_p.G241E|SP140_ENST00000486687.2_Missense_Mutation_p.G235E|SP140_ENST00000420434.3_Missense_Mutation_p.G311E	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	311					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTAATGAAGGAGAACCAGAG	0.408000													17	23					0	0	0.000958276	0	0
COL22A1	169044	broad.mit.edu	37	8	139611141	139611141	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:139611141C>T	ENST00000303045.6	-	61	4632	c.4185_splice	c.e61-1	p.G1396_splice	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.G1376_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1396	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGATCTCCCTAAGGAGGA	0.567000										HNSCC(7;0.00092)			5	14					0	0	8.12818e-05	0	0
ENAH	55740	broad.mit.edu	37	1	225700625	225700625	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:225700625G>A	ENST00000366844.2	-	8	1763	c.1312C>T	c.(1312-1314)Cct>Tct	p.P438S	ENAH_ENST00000284563.6_Missense_Mutation_p.P685S|ENAH_ENST00000366843.2_Missense_Mutation_p.P438S	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	438	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CCCCCTAAAGGAAGGGGTCCA	0.458000													22	67					0	0	0.000295444	0	0
PTEN	5728	broad.mit.edu	37	10	89720741	89720741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:89720741C>T	ENST00000371953.3	+	8	2249	c.892C>T	c.(892-894)Caa>Taa	p.Q298*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	298	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.Q298*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q298fs*9(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTATGTGATCAAGAAATCGA	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			18	17					0	0	0.00074312	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603401	140603401	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:140603401G>A	ENST00000239449.4	+	1	324	c.324G>A	c.(322-324)gtG>gtA	p.V108V	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		108	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTCAGGTGGTTTTGGAAA	0.428000													37	42					0	0	0.000953801	0	0
PPT2	9374	broad.mit.edu	37	6	32130605	32130605	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:32130605G>T	ENST00000324816.6	+	9	1355	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W	PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.G263W|PPT2_ENST00000395523.1_Missense_Mutation_p.G263W|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.G269W|PPT2_ENST00000445576.2_Intron|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.G263W			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	263					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.G269W(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GGATTCTTTTGGGTTGAAGAC	0.542000													11	593					0.000151284	0.0016207	0.000151284	1	0
DIDO1	11083	broad.mit.edu	37	20	61538515	61538515	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:61538515G>A	ENST00000266070.4	-	5	1683	c.1358C>T	c.(1357-1359)cCg>cTg	p.P453L	DIDO1_ENST00000370366.1_Missense_Mutation_p.P453L|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453L|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453L|DIDO1_ENST00000395335.2_Missense_Mutation_p.P453L|DIDO1_ENST00000395340.1_Missense_Mutation_p.P453L|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453L|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453L|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	453					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.P453L(1)		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)					ACCGCATTTCGGAAGACTGGG	0.527000													41	112					0	0	0.000589545	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947294	37947294	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:37947294G>A	ENST00000373087.6	+	4	792	c.676G>A	c.(676-678)Gac>Aac	p.D226N		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	226					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGCTATGACGACAGATTCAT	0.577000													24	49					0	0	0.000720815	0	0
HYDIN	54768	broad.mit.edu	37	16	71163551	71163551	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:71163551C>T	ENST00000393567.2	-	9	1369	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	HYDIN_ENST00000448089.2_Missense_Mutation_p.E407K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E407K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E407K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E424K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E434K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E407K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E424K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	407										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCAGGGGCTCCACAGTGAAA	0.488000													6	8					0	0	0.000157383	0	0
CPT1A	1374	broad.mit.edu	37	11	68542866	68542866	+	Missense_Mutation	SNP	T	T	C	rs80356791		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:68542866T>C	ENST00000265641.5	-	13	1647	c.1493A>G	c.(1492-1494)tAt>tGt	p.Y498C	CPT1A_ENST00000376618.2_Missense_Mutation_p.Y498C|CPT1A_ENST00000540367.1_Missense_Mutation_p.Y498C|CPT1A_ENST00000539743.1_Missense_Mutation_p.Y498C	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	498			Y -> C (in CPT1AD; decreased activity).		carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATCCTCCGCATAGCCCAGCTG	0.473000													21	44					0	0	0.00047179	0	0
GCKR	2646	broad.mit.edu	37	2	27728604	27728604	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:27728604C>T	ENST00000264717.2	+	10	833	c.770C>T	c.(769-771)tCc>tTc	p.S257F	GCKR_ENST00000424318.2_Missense_Mutation_p.S67F	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	257	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTCAGCGGCTCCTCCCGGATG	0.552000													17	28					0	0	0.000566183	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581071	234581071	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:234581071C>T	ENST00000354728.4	+	1	573	c.491C>T	c.(490-492)cCc>cTc	p.P164L	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TTCTCCCTCCCCTCCGTGGTC	0.433000													43	131					0	0	0.000680045	0	0
ADAR	103	broad.mit.edu	37	1	154569430	154569430	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:154569430G>A	ENST00000368474.4	-	6	2320	c.2121C>T	c.(2119-2121)tcC>tcT	p.S707S	ADAR_ENST00000368471.3_Silent_p.S412S|ADAR_ENST00000292205.5_Silent_p.S750S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	707					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGGCATCATGGATTCCAAGT	0.493000													13	51					0	0	0.000308642	0	0
SPHK2	56848	broad.mit.edu	37	19	49131265	49131265	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:49131265G>A	ENST00000443164.1	+	3	1586	c.881G>A	c.(880-882)gGg>gAg	p.G294E	SPHK2_ENST00000340932.3_Missense_Mutation_p.G196E|SPHK2_ENST00000599029.1_Missense_Mutation_p.G196E|SPHK2_ENST00000600537.1_Missense_Mutation_p.G173E|SPHK2_ENST00000598088.1_Missense_Mutation_p.G232E|SPHK2_ENST00000245222.4_Missense_Mutation_p.G232E|SPHK2_ENST00000599748.1_Missense_Mutation_p.G196E|SPHK2_ENST00000601712.1_Missense_Mutation_p.G196E			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	232	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTGGTCCAGGGGCTGAGCCTG	0.662000													14	30					0	0	0.000219431	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136232	92136232	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:92136232G>A	ENST00000256343.3	-	14	1369	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	405					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATGATGAAGGAAACCGAAAA	0.413000													10	25					0	0	0.000673444	0	0
FZD8	8325	broad.mit.edu	37	10	35928630	35928630	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:35928630G>T	ENST00000374694.1	-	1	1732	c.1728C>A	c.(1726-1728)gaC>gaA	p.D576E		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	576					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCGTGCCTGGTCGGGCTGCA	0.682000													11	14					1.61879e-10	1.76324e-09	0.00010058	1	0
RPL5	6125	broad.mit.edu	37	1	93300417	93300417	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:93300417G>A	ENST00000370321.3	+	4	361	c.271G>A	c.(271-273)Ggc>Agc	p.G91S		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	91					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGTGAAGGTTGGCCTGACAAA	0.448000													30	78					0	0	0.000184323	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459181	45459181	+	RNA	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:45459181C>T	ENST00000548424.1	+	0	448																											TCACTTTGCTCTGCACCTCAA	0.557000													6	3					0	0	3.59834e-05	0	0
MAN2A2	4122	broad.mit.edu	37	15	91455395	91455395	+	Silent	SNP	C	C	T	rs138366479	byFrequency	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:91455395C>T	ENST00000360468.3	+	14	2250	c.2232C>T	c.(2230-2232)tcC>tcT	p.S744S	MAN2A2_ENST00000431652.2_Silent_p.S252S|MAN2A2_ENST00000559717.1_Silent_p.S744S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	744					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCAGCTGTCCGTCAGCAGGC	0.647000													76	165					0	0	0.000781405	0	0
SLC7A6	9057	broad.mit.edu	37	16	68308840	68308840	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:68308840C>T	ENST00000566454.1	+	4	480	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	SLC7A6_ENST00000219343.6_Silent_p.L71L	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	71					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CAAGGGTGTGCTGGTACACAC	0.552000													18	54					0	0	0.00074312	0	0
CD177	57126	broad.mit.edu	37	19	43857896	43857896	+	RNA	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:43857896G>A	ENST00000378009.4	+	0	72				CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TGGCCCTCCTGGGGTTCATCC	0.557000													35	54					0	0	0.000228196	0	0
RPL5	6125	broad.mit.edu	37	1	93300418	93300418	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:93300418G>A	ENST00000370321.3	+	4	362	c.272G>A	c.(271-273)gGc>gAc	p.G91D		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	91					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTGAAGGTTGGCCTGACAAAT	0.453000													29	78					0	0	0.000147802	0	0
NUTM1	256646	broad.mit.edu	37	15	34648407	34648407	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:34648407C>T	ENST00000537011.1	+	8	2580	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	NUTM1_ENST00000333756.4_Missense_Mutation_p.P705L|NUTM1_ENST00000438749.3_Missense_Mutation_p.P723L					NUT midline carcinoma, family member 1																		GATCAGAATCCTTCCCCTAGA	0.562000													14	23					0	0	0.000151284	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1817363	1817363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:1817363C>T	ENST00000518288.1	+	8	864	c.701C>T	c.(700-702)cCa>cTa	p.P234L	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.P210L|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.P234L|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.P234L|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.P209L|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.P234L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	234					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)		ATTGCAGATCCAGAGGAAGCA	0.423000													20	47					0	0	0.000229342	0	0
IFT57	55081	broad.mit.edu	37	3	107885815	107885815	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:107885815G>A	ENST00000264538.3	-	8	1114	c.867C>T	c.(865-867)ctC>ctT	p.L289L	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	289					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTTCATTATGGAGTTTGTCCA	0.338000													16	19					0	0	0.000229342	0	0
STAT3	6774	broad.mit.edu	37	17	40498617	40498617	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:40498617G>A	ENST00000264657.5	-	3	555	c.243C>T	c.(241-243)caC>caT	p.H81H	STAT3_ENST00000588969.1_Silent_p.H81H|STAT3_ENST00000585517.1_Silent_p.H81H|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000404395.3_Silent_p.H81H	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	81					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTCGTAGATTGTGCTGATAGA	0.458000									Hyperimmunoglobulin E Recurrent Infection Syndrome				70	147					0	0	0.000781405	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43770369	43770369	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:43770369G>A	ENST00000389420.3	-	33	5082	c.5083C>T	c.(5083-5085)Cat>Tat	p.H1695Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1695	TSP type-1 15.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGTTTTAAATGGTTTAAACAT	0.343000													18	24					0	0	0.000566183	0	0
BAI1	575	broad.mit.edu	37	8	143563057	143563057	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:143563057C>T	ENST00000517894.1	+	11	3009	c.2115C>T	c.(2113-2115)acC>acT	p.T705T	BAI1_ENST00000323289.5_Silent_p.T705T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	705					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCCCCACCCCTGGGGACG	0.602000													5	4					0	0	3.59834e-05	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:53103787C>T	ENST00000408890.4	+	1	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000													7	17					0	0	0.000274275	0	0
HIST1H4J	8363	broad.mit.edu	37	6	27792209	27792209	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:27792209G>A	ENST00000355057.1	+	1	326	c.307G>A	c.(307-309)Ggt>Agt	p.G103S		NM_021968.3	NP_068803.1	P62805	H4_HUMAN	histone cluster 1, H4j	103					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(1)|pancreas(1)	4						CGGTTTCGGTGGTTGAGCGTC	0.567000													11	17					0	0	0.000175454	0	0
ANKMY1	51281	broad.mit.edu	37	2	241448822	241448822	+	Silent	SNP	G	G	A	rs140218422		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:241448822G>A	ENST00000391987.1	-	12	2436	c.2070C>T	c.(2068-2070)aaC>aaT	p.N690N	ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Silent_p.N460N|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.N779N|ANKMY1_ENST00000406958.1_Silent_p.N451N|ANKMY1_ENST00000272972.3_Silent_p.N690N			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	690							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCCACAGCAGGTTAGGATTTG	0.567000													3	6					0	0	0.000602214	0	0
NOVA1	4857	broad.mit.edu	37	14	26917991	26917991	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:26917991G>A	ENST00000539517.2	-	5	1015	c.698C>T	c.(697-699)gCt>gTt	p.A233V	NOVA1_ENST00000465357.2_Missense_Mutation_p.A209V|NOVA1_ENST00000267422.7_Missense_Mutation_p.A111V	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	236	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AAGTTCAACAGCTTTTCGGTT	0.468000													28	58					0	0	0.000878237	0	0
ABCG4	64137	broad.mit.edu	37	11	119024766	119024766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:119024766G>A	ENST00000307417.3	+	3	633	c.269G>A	c.(268-270)gGt>gAt	p.G90D	ABCG4_ENST00000449422.2_Missense_Mutation_p.G90D|ABCG4_ENST00000531739.1_Missense_Mutation_p.G90D	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	90	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCCTCTCAGGTAAATTCTGC	0.512000													42	84					0	0	0.000781405	0	0
GPC6	10082	broad.mit.edu	37	13	94197591	94197591	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr13:94197591G>A	ENST00000377047.4	+	2	851	c.236G>A	c.(235-237)aGc>aAc	p.S79N		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	79						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.S79N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGCCAACAAAGCAAACTCGAA	0.408000													19	50					0	0	0.000958276	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258595	97258595	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:97258595C>T	ENST00000523821.1	-	5	884	c.765G>A	c.(763-765)gtG>gtA	p.V255V	MTERFD1_ENST00000524341.1_Silent_p.V65V|MTERFD1_ENST00000522822.1_Silent_p.V134V|MTERFD1_ENST00000287025.3_Silent_p.V255V			Q96E29	MTER1_HUMAN	MTERF domain containing 1	255					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CCAGTCTTTCCACTGAAAAGT	0.358000													8	26					0	0	0.000673444	0	0
C14orf2	9556	broad.mit.edu	37	14	104381447	104381447	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:104381447C>T	ENST00000553430.1	-	2	139	c.80G>A	c.(79-81)gGa>gAa	p.G27E	C14orf2_ENST00000554880.1_Missense_Mutation_p.G27E|C14orf2_ENST00000554713.1_Missense_Mutation_p.G27E|C14orf2_ENST00000553449.1_Intron|C14orf2_ENST00000414262.2_Missense_Mutation_p.G44E|C14orf2_ENST00000286953.3_Missense_Mutation_p.G27E|C14orf2_ENST00000555030.1_Missense_Mutation_p.G27E|C14orf2_ENST00000557040.1_Missense_Mutation_p.G27E			P56378	68MP_HUMAN	chromosome 14 open reading frame 2	27						mitochondrion				kidney(1)	1				Epithelial(152;0.223)		CAGCCCCATTCCTATCCAAAT	0.373000													15	20					0	0	0.000219431	0	0
STXBP4	252983	broad.mit.edu	37	17	53237190	53237190	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:53237190C>T	ENST00000376352.2	+	18	1787	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L	STXBP4_ENST00000434978.2_Missense_Mutation_p.P505L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	527	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TGGATCCATCCCGTGATGAGT	0.428000													14	36					0	0	0.000219431	0	0
MMP15	4324	broad.mit.edu	37	16	58073967	58073967	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:58073967C>T	ENST00000219271.3	+	4	1414	c.629C>T	c.(628-630)tCg>tTg	p.S210L		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	210					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GGCGACAGCTCGCCGTTTGAT	0.627000													14	26					0	0	0.000219431	0	0
IGLV2-11	28816	broad.mit.edu	37	22	23135342	23135342	+	RNA	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:23135342G>A	ENST00000390314.2	+	0	246																											CCAAACTCATGATTTATGATG	0.552000													86	182					0	0	0.000781405	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173398	47173398	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:47173398C>A	ENST00000447411.1	-	9	919	c.713G>T	c.(712-714)aGt>aTt	p.S238I	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S238I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	238					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACTTACCACACTAACAAAAAA	0.378000													45	73					5.34276e-22	5.88997e-21	0.000781405	1	0
CMTM1	113540	broad.mit.edu	37	16	66612745	66612745	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:66612745C>T	ENST00000379500.2	+	4	769	c.702C>T	c.(700-702)ctC>ctT	p.L234L	CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533953.1_Silent_p.L186L|CMTM1_ENST00000457188.2_Silent_p.L117L|CMTM1_ENST00000533666.1_Intron|CKLF-CMTM1_ENST00000527729.1_Silent_p.L63L|CMTM1_ENST00000336328.6_Silent_p.L64L|CMTM1_ENST00000328020.6_Intron|CMTM1_ENST00000332695.7_Silent_p.L70L	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	117					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CCCTGTGTCTCACAGCGGTAA	0.488000													15	47					0	0	0.00074312	0	0
CPAMD8	27151	broad.mit.edu	37	19	17025599	17025599	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:17025599G>A	ENST00000443236.1	-	28	3826	c.3795C>T	c.(3793-3795)tcC>tcT	p.S1265S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1218						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGTGCGAAGGACTTCAGGA	0.607000													6	14					0	0	8.12818e-05	0	0
GRHL3	57822	broad.mit.edu	37	1	24668748	24668748	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:24668748G>A	ENST00000361548.4	+	9	1421	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	GRHL3_ENST00000236255.4_Silent_p.K402K|GRHL3_ENST00000350501.5_Silent_p.K397K|GRHL3_ENST00000356046.2_Silent_p.K351K|GRHL3_ENST00000342072.4_Silent_p.K304K	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	397					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GCCAGATCAAGATCTTCTGTG	0.587000													17	38					0	0	0.000566183	0	0
CAD	790	broad.mit.edu	37	2	27462330	27462330	+	Silent	SNP	C	C	T	rs115849996	by1000genomes	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:27462330C>T	ENST00000264705.4	+	33	5547	c.5385C>T	c.(5383-5385)atC>atT	p.I1795I	CAD_ENST00000403525.1_Silent_p.I1732I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1795	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTGCCTATATCGATGGGCAGG	0.577000													12	19					0	0	0.000308642	0	0
QPRT	23475	broad.mit.edu	37	16	29706008	29706008	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:29706008G>A	ENST00000395384.4	+	2	198	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	AC009133.19_ENST00000449759.1_Missense_Mutation_p.51_51insP|QPRT_ENST00000219771.7_Intron|QPRT_ENST00000562473.1_Missense_Mutation_p.V13I	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	13					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GCTGCCGCCCGTCACCCTGGC	0.642000													5	19					0	0	0.000602214	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505180	37505180	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:37505180C>T	ENST00000374660.1	+	38	3229	c.3130C>T	c.(3130-3132)Cac>Tac	p.H1044Y	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H925Y|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H925Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1047						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCAAAAAGATCACTGTGAACA	0.328000													30	29					0	0	0.000409698	0	0
LPA	4018	broad.mit.edu	37	6	160968932	160968932	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:160968932C>T	ENST00000447678.1	-	33	5313	c.5193G>A	c.(5191-5193)aaG>aaA	p.K1731K	LPA_ENST00000316300.5_Silent_p.K1731K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4239	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTTGCCTTCTTGCCCCGGT	0.493000													16	55					0	0	0.000958276	0	0
PITPNM2	57605	broad.mit.edu	37	12	123472417	123472417	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:123472417G>A	ENST00000280562.5	-	20	3216	c.3011C>T	c.(3010-3012)gCc>gTc	p.A1004V	PITPNM2_ENST00000542749.1_Missense_Mutation_p.A1010V|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A1010V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A731V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATTGGCAAGGGCATCATTGAT	0.637000													7	16					0	0	0.000442599	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909034	24909034	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:24909034C>T	ENST00000396432.2	-	9	2276	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R384K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	596					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGAAAATTTCTGTTTGACTG	0.418000													30	24					0	0	0.000227799	0	0
DNM3	26052	broad.mit.edu	37	1	172002324	172002324	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:172002324G>A	ENST00000358155.4	+	6	944	c.768G>A	c.(766-768)agG>agA	p.R256R	DNM3_ENST00000367731.1_Silent_p.R256R|DNM3_ENST00000367733.2_Silent_p.R256R|DNM3_ENST00000355305.5_Silent_p.R256R|DNM3_ENST00000520906.1_Silent_p.R256R	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	256					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGCAGAGAGGAAGTTTTTCC	0.468000													8	18					0	0	0.000157383	0	0
SH3BGR	6450	broad.mit.edu	37	21	40824035	40824035	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr21:40824035G>A	ENST00000333634.4	+	1	280	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380631.1_Intron	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	68					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GGTTATCAAAGTGTTTGTTGC	0.478000													43	94					0	0	0.000781405	0	0
RALGAPB	57148	broad.mit.edu	37	20	37150200	37150200	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:37150200C>T	ENST00000262879.6	+	10	1762	c.1478C>T	c.(1477-1479)aCc>aTc	p.T493I	RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397040.1_Missense_Mutation_p.T493I|RALGAPB_ENST00000397038.1_Missense_Mutation_p.T271I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.T493I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	493					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCCACAGACACCATGGTTTCC	0.423000													18	48					0	0	0.000958276	0	0
UBC	7316	broad.mit.edu	37	12	125397415	125397415	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:125397415G>A	ENST00000536769.1	-	1	2479	c.903C>T	c.(901-903)ctC>ctT	p.L301L	UBC_ENST00000339647.5_Silent_p.L301L|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.L225L			P0CG48	UBC_HUMAN	ubiquitin C	301	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.532000													6	92					0	0	8.12818e-05	0	0
SRPX	8406	broad.mit.edu	37	X	38037563	38037563	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:38037563G>A	ENST00000378533.3	-	2	238	c.132C>T	c.(130-132)gtC>gtT	p.V44V	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000544439.1_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Silent_p.V44V|SRPX_ENST00000538295.1_Silent_p.V44V	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	44					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTGAATACCCGACTTCATCGT	0.428000													15	6					0	0	0.000422831	0	0
FCGBP	8857	broad.mit.edu	37	19	40411838	40411838	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:40411838C>T	ENST00000221347.6	-	7	3797	c.3790G>A	c.(3790-3792)Gat>Aat	p.D1264N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1264	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGCGGCCATCGAAGGTGGTG	0.667000													15	17					0	0	0.000566183	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850594	58850594	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:58850594G>A	ENST00000329665.4	+	3	1525	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	460					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GATCCACACGGGAGAGAAGCC	0.537000													14	30					0	0	0.000219431	0	0
PDE4A	5141	broad.mit.edu	37	19	10574567	10574567	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:10574567C>T	ENST00000380702.2	+	15	1776	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	PDE4A_ENST00000352831.6_Silent_p.F614F|PDE4A_ENST00000293683.5_Silent_p.F588F|PDE4A_ENST00000440014.2_Silent_p.F553F|PDE4A_ENST00000592685.1_Silent_p.F592F|PDE4A_ENST00000344979.3_Silent_p.F375F			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	614	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCGAGTTCTTCCAGCAGGGTG	0.622000													22	25					0	0	0.000229342	0	0
FAM47A	158724	broad.mit.edu	37	X	34149184	34149184	+	Silent	SNP	G	G	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:34149184G>T	ENST00000346193.3	-	1	1263	c.1212C>A	c.(1210-1212)ccC>ccA	p.P404P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	404										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCCAGTCTTGGGAGGCACTG	0.582000													16	10					1.96292e-10	2.13298e-09	0.000175454	1	0
TEP1	7011	broad.mit.edu	37	14	20845893	20845893	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:20845893G>A	ENST00000262715.5	-	40	5781	c.5741C>T	c.(5740-5742)tCt>tTt	p.S1914F	TEP1_ENST00000545983.1_Missense_Mutation_p.S252F|TEP1_ENST00000556935.1_Missense_Mutation_p.S1806F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1914					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGACCCAGAGACCCTGACCA	0.587000													15	26					0	0	0.000422831	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:21971209T>C	ENST00000579755.1	-	2	486		c.e2-2		CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						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.?(23)|p.0(1)|p.V28_V51del(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)		CATCATGACCTGCCAGAGAGA	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	18					0	0	8.12818e-05	0	0
SEMA4F	10505	broad.mit.edu	37	2	74884745	74884745	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:74884745G>A	ENST00000357877.2	+	3	500	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SEMA4F_ENST00000339773.5_Silent_p.K117K	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	117	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AGAAAGGCAAGAAAGAGGTAG	0.488000													13	53					0	0	0.000566183	0	0
NF2	4771	broad.mit.edu	37	22	30069410	30069410	+	Silent	SNP	G	G	C			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:30069410G>C	ENST00000338641.4	+	12	1716	c.1275G>C	c.(1273-1275)ctG>ctC	p.L425L	NF2_ENST00000403435.1_Silent_p.L396L|NF2_ENST00000334961.7_Silent_p.L342L|NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Silent_p.L425L|NF2_ENST00000361452.4_Silent_p.L384L|NF2_ENST00000361166.4_Silent_p.L425L|NF2_ENST00000403999.3_Silent_p.L425L|NF2_ENST00000353887.4_Silent_p.L342L|NF2_ENST00000361676.4_Silent_p.L383L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	425	Glu-rich.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGAAGCGCCTGATGGAGCAGA	0.627000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				11	15					0	0	0.00010058	0	0
SELV	348303	broad.mit.edu	37	19	40009764	40009764	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:40009764C>T	ENST00000423711.1	+	6	1117	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	SELV_ENST00000335426.4_Silent_p.I339I			P59797	SELV_HUMAN		339					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAGCGTTATCGATGAGGAAA	0.602000													12	25					0	0	6.40141e-05	0	0
ZNF423	23090	broad.mit.edu	37	16	49764708	49764708	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:49764708T>G	ENST00000561648.1	-	3	304	c.251A>C	c.(250-252)gAc>gCc	p.D84A	ZNF423_ENST00000562871.1_Missense_Mutation_p.D24A|ZNF423_ENST00000562520.1_Missense_Mutation_p.D24A|ZNF423_ENST00000262383.2_Missense_Mutation_p.D84A|ZNF423_ENST00000563137.2_Missense_Mutation_p.D24A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	84					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCCCGGTGGTCCGTCAGGTC	0.527000													5	59					0	0	8.12818e-05	0	0
RPL18	6141	broad.mit.edu	37	19	49120029	49120029	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr19:49120029C>T	ENST00000549273.1	-	4	284	c.251G>A	c.(250-252)gGg>gAg	p.G84E	RPL18_ENST00000550645.1_Missense_Mutation_p.G84E|RPL18_ENST00000552588.1_Missense_Mutation_p.G55E|RPL18_ENST00000549920.1_Missense_Mutation_p.G84E			Q07020	RL18_HUMAN	ribosomal protein L18	84					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		AGTTATGGTCCCCACAACCAC	0.552000													25	46					0	0	0.000227799	0	0
MYF6	4618	broad.mit.edu	37	12	81101933	81101933	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:81101933G>A	ENST00000228641.3	+	1	657	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	145	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGCGGCTGCAGGACCTGCTGC	0.587000													15	33					0	0	0.000566183	0	0
TEX15	56154	broad.mit.edu	37	8	30694961	30694961	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:30694961G>A	ENST00000256246.2	-	3	7764	c.7690C>T	c.(7690-7692)Cct>Tct	p.P2564S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2564										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCAGAGTAGGAATTTTGTTC	0.363000													22	50					0	0	0.00047179	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145830936	145830936	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:145830936G>A	ENST00000276826.5	-	1	265	c.64C>T	c.(64-66)Cca>Tca	p.P22S	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P22S|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P22S			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	22					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTCGACCCTGGAATCCTCGAC	0.612000													11	23					0	0	0.000308642	0	0
ABCB9	23457	broad.mit.edu	37	12	123430577	123430577	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:123430577T>A	ENST00000542678.1	-	6	4084	c.1246A>T	c.(1246-1248)Agc>Tgc	p.S416C	ABCB9_ENST00000442028.2_Missense_Mutation_p.S416C|ABCB9_ENST00000392439.3_Missense_Mutation_p.S416C|ABCB9_ENST00000280560.8_Missense_Mutation_p.S416C|ABCB9_ENST00000540285.1_Missense_Mutation_p.S416C|ABCB9_ENST00000344275.7_Missense_Mutation_p.S416C|ABCB9_ENST00000442833.2_Missense_Mutation_p.S416C|ABCB9_ENST00000346530.5_Missense_Mutation_p.S416C			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	416	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CGTACCCCGCTGCCCCAGACG	0.597000													8	12					0	0	0.000442599	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098794	78098794	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:78098794G>A	ENST00000370801.3	-	5	721	c.246C>T	c.(244-246)agC>agT	p.S82S	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTTTCCTAGGGCTTACCCATG	0.413000													62	113					0	0	0.000781405	0	0
LRRC43	254050	broad.mit.edu	37	12	122685132	122685132	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr12:122685132G>A	ENST00000339777.4	+	9	1573	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	LRRC43_ENST00000425921.1_Silent_p.K330K	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	515	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGTCTGCCaagaaaggaaagg	0.592000													40	65					0	0	0.000589545	0	0
NDST3	9348	broad.mit.edu	37	4	118975378	118975378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:118975378C>T	ENST00000296499.5	+	2	716	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	NDST3_ENST00000433996.2_Nonsense_Mutation_p.Q105*	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	105	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAGTAGATTCCAGTATCACAT	0.378000													14	32					0	0	0.000219431	0	0
TRIM42	287015	broad.mit.edu	37	3	140397412	140397412	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:140397412C>T	ENST00000286349.3	+	1	532	c.341_splice	c.e1+1	p.S114_splice		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	114						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCCATACCTCGTAAGTGCCA	0.562000													8	10					0	0	0.000157383	0	0
ENPEP	2028	broad.mit.edu	37	4	111409721	111409721	+	Silent	SNP	A	A	G			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:111409721A>G	ENST00000265162.5	+	2	1011	c.669A>G	c.(667-669)gaA>gaG	p.E223E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	223					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCGATCATGAACCAACAGATG	0.423000													4	9					0	0	0.00024832	0	0
AFF1	4299	broad.mit.edu	37	4	87968195	87968195	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:87968195C>T	ENST00000307808.6	+	3	907	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.R170C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	163						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GACCCAGGATCGCCTTGGTCA	0.572000													23	39					0	0	0.000295444	0	0
OR11L1	391189	broad.mit.edu	37	1	248004339	248004339	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:248004339G>A	ENST00000355784.2	-	1	915	c.860C>T	c.(859-861)cCa>cTa	p.P287L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGATAACTGGGTTCAGCAG	0.428000													11	31					0	0	6.40141e-05	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	39					0	0	8.12818e-05	0	0
ZP2	7783	broad.mit.edu	37	16	21209102	21209102	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:21209102C>T	ENST00000574002.1	-	19	2562	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.E694K|ZP2_ENST00000574091.1_Missense_Mutation_p.E685K			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	694					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GAGCCAACCTCCTCCCCTGTT	0.468000													26	91					0	0	0.000279167	0	0
ABLIM1	3983	broad.mit.edu	37	10	116213208	116213208	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr10:116213208G>A	ENST00000369252.4	-	13	1597	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L	ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000392952.3_Intron|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000533213.2_Silent_p.L432L|ABLIM1_ENST00000277895.5_Silent_p.L492L	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	492					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GCCGGTAAGGGAGAGGGGAGT	0.507000													12	13					0	0	0.000308642	0	0
SYNE1	23345	broad.mit.edu	37	6	152652462	152652462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:152652462G>A	ENST00000367255.5	-	78	13959	c.13358C>T	c.(13357-13359)tCc>tTc	p.S4453F	SYNE1_ENST00000265368.4_Missense_Mutation_p.S4453F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4382F|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4382F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4453					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTTTTCTCGGACAAGGCTTT	0.478000										HNSCC(10;0.0054)			10	37					0	0	0.00010058	0	0
TNIP3	79931	broad.mit.edu	37	4	122062995	122062995	+	Silent	SNP	A	A	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr4:122062995A>T	ENST00000454328.1	-	11	1088	c.861T>A	c.(859-861)gcT>gcA	p.A287A	TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Silent_p.A287A|TNIP3_ENST00000507879.1_Silent_p.A357A|TNIP3_ENST00000509841.1_Silent_p.A364A			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	287										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GCTTCTGCACAGCTCCAGGGC	0.473000													15	28					0	0	0.000566183	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													7	70					0	0	8.12818e-05	0	0
HEATR6	63897	broad.mit.edu	37	17	58134511	58134511	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:58134511G>A	ENST00000184956.6	-	12	1993	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	HEATR6_ENST00000585976.1_Silent_p.S659S	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	659							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTACGACAATGGAAATGCAGA	0.562000													24	61					0	0	0.000147802	0	0
OR51B4	79339	broad.mit.edu	37	11	5322817	5322817	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:5322817G>A	ENST00000380224.1	-	1	409	c.360C>T	c.(358-360)ttC>ttT	p.F120F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGGCAATGAAACAGTCAT	0.458000													32	54					0	0	0.000279167	0	0
LRCH3	84859	broad.mit.edu	37	3	197518308	197518308	+	Silent	SNP	G	G	A	rs139995375		TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr3:197518308G>A	ENST00000438796.2	+	1	203	c.159G>A	c.(157-159)ctG>ctA	p.L53L	LRCH3_ENST00000334859.4_Silent_p.L53L|LRCH3_ENST00000414675.2_Silent_p.L53L|LRCH3_ENST00000425562.2_Silent_p.L53L|LRCH3_ENST00000441090.2_Silent_p.L53L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	53						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ATCGAGCCCTGGAGGAGGCGG	0.701000													3	4					0	0	6.4e-05	0	0
MUC17	140453	broad.mit.edu	37	7	100687012	100687012	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:100687012C>T	ENST00000306151.4	+	3	12379	c.12315C>T	c.(12313-12315)ttC>ttT	p.F4105F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4105						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCACTTCCTTCCCCACGGTGA	0.542000													15	39					0	0	0.000219431	0	0
DNAH9	1770	broad.mit.edu	37	17	11593108	11593108	+	Silent	SNP	C	C	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr17:11593108C>A	ENST00000262442.3	+	20	4037	c.3969C>A	c.(3967-3969)ccC>ccA	p.P1323P	DNAH9_ENST00000454412.2_Silent_p.P1323P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1323	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGACCACACCCTGGAGGAATA	0.567000													9	15					2.17888e-05	0.000234525	0.000442599	1	0
CRYBB2	1415	broad.mit.edu	37	22	25625521	25625521	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr22:25625521C>T	ENST00000398215.2	+	5	596	c.425C>T	c.(424-426)tCa>tTa	p.S142L		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	142	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GAGAAGGTGTCATCTGTGCGG	0.562000													6	17					0	0	8.12818e-05	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692583	153692583	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chrX:153692583C>T	ENST00000369682.3	+	8	1930	c.1755C>T	c.(1753-1755)gtC>gtT	p.V585V		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	585					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGAGGCGGTCCTGCTGCCCT	0.687000													3	3					0	0	0.00024832	0	0
APBB3	10307	broad.mit.edu	37	5	139941689	139941689	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr5:139941689C>T	ENST00000357560.4	-	6	1065	c.622G>A	c.(622-624)Ggc>Agc	p.G208S	APBB3_ENST00000412920.3_Missense_Mutation_p.G208S|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Missense_Mutation_p.G208S|APBB3_ENST00000356738.2_Missense_Mutation_p.G208S|APBB3_ENST00000358580.5_Missense_Mutation_p.G208S|APBB3_ENST00000354402.5_Missense_Mutation_p.G208S	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	208	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACCGGCCCTTGGAGCTC	0.602000													10	15					0	0	0.000673444	0	0
KIF6	221458	broad.mit.edu	37	6	39328221	39328221	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr6:39328221G>A	ENST00000287152.7	-	18	2126	c.2032C>T	c.(2032-2034)Cta>Tta	p.L678L	KIF6_ENST00000229913.5_Silent_p.L129L|KIF6_ENST00000394362.1_Silent_p.L129L|KIF6_ENST00000538893.1_Silent_p.L622L|KIF6_ENST00000373216.3_Silent_p.L678L|KIF6_ENST00000541946.1_Silent_p.L129L|KIF6_ENST00000373215.3_Silent_p.L661L|KIF6_ENST00000373213.4_Silent_p.L517L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	678					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTTTCTGTAGCTTCACCTTG	0.557000													16	36					0	0	0.000132079	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036316	57036316	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr20:57036316G>A	ENST00000371149.3	-	4	1266	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.R357C	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	346						integral to membrane		p.R346C(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GTGCCGCCGCGGACCCTGGTG	0.652000													9	17					0	0	0.000673444	0	0
PTGER2	5732	broad.mit.edu	37	14	52782085	52782085	+	Silent	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:52782085C>T	ENST00000245457.5	+	1	973	c.819C>T	c.(817-819)ttC>ttT	p.F273F	PTGER2_ENST00000557436.1_Silent_p.F18F	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	273						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CCATCACCTTCGCCGTCTGCT	0.637000													13	15					0	0	0.000422831	0	0
ALPK3	57538	broad.mit.edu	37	15	85401310	85401310	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr15:85401310G>A	ENST00000258888.5	+	6	4114	c.3947G>A	c.(3946-3948)cGa>cAa	p.R1316Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1316					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGGCTGGTCGACTGGGGGAG	0.682000													4	6					0	0	0.000602214	0	0
TENM4	26011	broad.mit.edu	37	11	78413362	78413362	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr11:78413362G>A	ENST00000278550.7	-	28	4758	c.4296C>T	c.(4294-4296)atC>atT	p.I1432I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGTTTTCAGAGATTTGCAGGA	0.542000													26	56					0	0	0.000878237	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357001	104357001	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:104357001C>T	ENST00000374806.1	-	1	282	c.212G>A	c.(211-213)gGa>gAa	p.G71E	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	68	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GTCCACTTCTCCATCACCGTC	0.577000													20	48					0	0	0.000175454	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936867	119936867	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr8:119936867C>T	ENST00000297350.4	-	5	1330	c.952G>A	c.(952-954)Gca>Aca	p.A318T		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	318	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GGTTTGCATGCCTTTATTGTT	0.468000													19	61					0	0	0.000958276	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513686	50513686	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr7:50513686G>T	ENST00000419119.1	-	2	2853	c.1300C>A	c.(1300-1302)Cct>Act	p.P434T	FIGNL1_ENST00000433017.1_Missense_Mutation_p.P434T|FIGNL1_ENST00000356889.4_Missense_Mutation_p.P434T|FIGNL1_ENST00000395556.2_Missense_Mutation_p.P434T			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	434					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.P434T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ATTCCTTTAGGGGGTCCCCTT	0.453000													26	40					4.72057e-08	5.10517e-07	0.000586117	1	0
NOTCH1	4851	broad.mit.edu	37	9	139417600	139417600	+	Silent	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr9:139417600G>A	ENST00000277541.6	-	4	519	c.444C>T	c.(442-444)ccC>ccT	p.P148P	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	148	EGF-like 4.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTTGGCGCAGGGGTTGGAGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	6					0	0	0.00024832	0	0
MROH7	374977	broad.mit.edu	37	1	55119323	55119323	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr1:55119323C>T	ENST00000414150.2	+	3	1002	c.724C>T	c.(724-726)Cca>Tca	p.P242S	MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.P242S|MROH7_ENST00000421030.2_Missense_Mutation_p.P242S|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.P242S					maestro heat-like repeat family member 7																		GACCCTAATCCCAGACACAAA	0.453000													15	27					0	0	0.000308642	0	0
TRAV22	28661	broad.mit.edu	37	14	22539370	22539370	+	RNA	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:22539370G>A	ENST00000390450.3	+	0	363																											AAACAGAATGGAAGATTAAGC	0.453000													10	29					0	0	0.000673444	0	0
NID2	22795	broad.mit.edu	37	14	52507555	52507555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr14:52507555G>A	ENST00000216286.5	-	8	1839	c.1840C>T	c.(1840-1842)Cat>Tat	p.H614Y	NID2_ENST00000541773.1_Missense_Mutation_p.H561Y	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	614	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCATGTCATGGGTAAAGGCA	0.463000													24	43					0	0	0.00047179	0	0
CALCRL	10203	broad.mit.edu	37	2	188225352	188225355	+	Frame_Shift_Del	DEL	AATG	AATG	-			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr2:188225352_188225355delAATG	ENST00000409998.1	-	11	1532_1535	c.751_754delCATT	c.(751-756)tafs	p.HL251fs	CALCRL_ENST00000410068.1_Frame_Shift_Del_p.HL251fs|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Frame_Shift_Del_p.HL251fs|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	251						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TACCACATTAAATGTTGCTTCTCT	0.402													10	28	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-			TCGA-D3-A2JK-06A-11D-A196-08	TCGA-D3-A2JK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c6c3ded-64da-4552-9e28-c382c65a6a65	faccfbfa-d66c-4aea-8b40-df03dbff8837	g.chr16:29372348delT	ENST00000398878.3	+	0	1186				SNX29P2_ENST00000507381.1_RNA																							TGGGAGGttgttttttttttt	0.478													2	4	---	---	---	---					
