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
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								3	58					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381393	101381393	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:101381393G>T	ENST00000392979.3	+	7	935	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	ANO4_ENST00000392977.3_Missense_Mutation_p.D227Y|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	227						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACACTGCCAGACCTGGAGGA	0.498000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	151					4.16121e-05	4.6656e-05	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	254					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97564055	97564055	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:97564055G>A	ENST00000370192.3	-	21	2856	c.2756C>T	c.(2755-2757)cCt>cTt	p.P919L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	919					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTTGATGGTAGGAATAGGCCT	0.299000													3	121					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179637910	179637910	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:179637910A>G	ENST00000589042.1	-	33	8005	c.7781T>C	c.(7780-7782)aTg>aCg	p.M2594T	TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN_ENST00000591111.1_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2328							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)			ATCTTTCATCATATTTAGAAC	0.313000													5	54					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													5	73					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1316275	1316275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr4:1316275G>A	ENST00000303400.4	+	4	626	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAEA_ENST00000505839.1_Missense_Mutation_p.R140Q|MAEA_ENST00000505177.2_Missense_Mutation_p.R188Q|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.R187Q|MAEA_ENST00000452175.2_Missense_Mutation_p.R109Q	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	188	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			AACAAGTCCCGGCTCCGGAAG	0.652000													3	80					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618945	52618945	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:52618945T>C	ENST00000600228.1	-	4	1733	c.1472A>G	c.(1471-1473)aAa>aGa	p.K491R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTGTAAGGTTTCTCTCCAGT	0.403000													3	105					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134040390	134040390	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:134040390T>C	ENST00000368622.1	-	4	583	c.202A>G	c.(202-204)Aac>Gac	p.N68D	STK32C_ENST00000368625.4_Missense_Mutation_p.N198D			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	185							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AACTGCACGTTCTGCTGCAGG	0.612000													7	65					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119611907	119611907	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:119611907C>T	ENST00000368468.3	-	5	1279	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E303K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	280					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATATTTACTTCAAAGACAGAA	0.299000													9	68					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													4	118					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	rs113303801		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637000													3	40					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46334800	46334800	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:46334800C>T	ENST00000245934.7	-	12	1684	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	480					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCTTCACCACCTTCTCCTCCT	0.622000													3	17					0	0	1	0	0
PTPRA	0	broad.mit.edu	37	20	3005196	3005196	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:3005196G>A	ENST00000216877.6	+	16	1916	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	515					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACCTCTCTAGAAACCCACCT	0.433000													15	116					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22880193	22880193	+	Silent	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr8:22880193G>T	ENST00000276431.4	-	9	1598	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A	TNFRSF10B_ENST00000347739.3_Silent_p.A409A|TNFRSF10B_ENST00000542226.1_Silent_p.A258A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	438					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTTAGGACATGGCAGAGTCTG	0.478000													3	41					1	1	1	1	0
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647000													4	221					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651647	121651647	+	Silent	SNP	C	C	T	rs147331896		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:121651647C>T	ENST00000393386.2	+	12	2958	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	849					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCAGCTACCGAGAGTGATA	0.478000													16	109					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78317633	78317633	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr15:78317633C>T	ENST00000409931.3	-	5	1125	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E352K			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	352						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTTAACTGTTCCAGCTCTTCC	0.547000													9	76					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15879270	15879270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:15879270T>C	ENST00000277632.3	-	6	729	c.509A>G	c.(508-510)gAc>gGc	p.D170G	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	170					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAATACTGGTCCAAGACAGC	0.333000													3	174					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742395	15742395	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:15742395C>T	ENST00000281171.4	+	25	3747	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000348962.2_Silent_p.G1111G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1139	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGTGCTGGCGTGGGACGGA	0.453000													7	160					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779562	133779562	+	Silent	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr9:133779562G>A	ENST00000372338.4	-	7	1517	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	425	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTGCGCACCGCGCAGGTACT	0.627000													21	88					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138145410	138145410	+	Silent	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:138145410G>A	ENST00000343526.4	+	1	332	c.117G>A	c.(115-117)ccG>ccA	p.P39P	TRIM24_ENST00000415680.2_Silent_p.P39P			O15164	TIF1A_HUMAN	tripartite motif containing 24	39					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGCAGGGCCCGGACTCGGAGC	0.766000													2	5					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195509182	195509182	+	Missense_Mutation	SNP	G	G	T	rs71291868		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:195509182G>T	ENST00000463781.3	-	2	9728	c.9269C>A	c.(9268-9270)cCt>cAt	p.P3090H	MUC4_ENST00000475231.1_Missense_Mutation_p.P3090H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	831					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.P3090H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACAGGAAGAGGGGT	0.597000													4	6					0.150653	0.159262	1	1	0
GBF1	8729	broad.mit.edu	37	10	104136749	104136749	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:104136749G>A	ENST00000369983.3	+	33	4603	c.4343G>A	c.(4342-4344)cGc>cAc	p.R1448H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1448					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGGGAACCGCTTCAAGAAG	0.517000													4	109					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50307319	50307319	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:50307319G>A	ENST00000338821.5	-	8	946	c.682C>T	c.(682-684)Cca>Tca	p.P228S	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	228					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAATATTTGGCTCTTCTGCG	0.463000													6	155					0	0	1	0	0
UCK2	7371	broad.mit.edu	37	1	165872479	165872479	+	Missense_Mutation	SNP	C	C	A	rs36009659	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:165872479C>A	ENST00000367879.4	+	5	863	c.560C>A	c.(559-561)aCg>aAg	p.T187K	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	187					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGTACATTACGTTCGTCAAG	0.383000													3	120					1	1	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	20					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27022376	27022376	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:27022376A>G	ENST00000314616.6	+	29	4064	c.3781A>G	c.(3781-3783)Atg>Gtg	p.M1261V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1261	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ctaGGTGGGAATGACTGTTCA	0.488000													10	29					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB2_ENST00000504772.3_5'UTR	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587000													4	144					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166229841	166229841	+	Missense_Mutation	SNP	G	G	A	rs121917753		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:166229841G>A	ENST00000375437.2	+	21	4246	c.3956G>A	c.(3955-3957)cGg>cAg	p.R1319Q	SCN2A_ENST00000357398.3_Missense_Mutation_p.R1319Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1319Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1319Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1319			R -> Q (in BFIC3).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTTTGTCCCGGTTTGAAGGA	0.433000													11	52					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62777707	62777707	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:62777707A>C	ENST00000280377.5	+	10	1234	c.1176A>C	c.(1174-1176)ttA>ttC	p.L392F	USP15_ENST00000353364.3_Missense_Mutation_p.L363F|USP15_ENST00000393654.3_Missense_Mutation_p.L367F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	392					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGATGGATTACATGAGGATT	0.368000													10	42					0	0	1	0	0
NCOR1P1	0	broad.mit.edu	37	20	26084296	26084296	+	RNA	SNP	A	A	G	rs61752037	by1000genomes	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr20:26084296A>G	ENST00000478176.1	-	0	161					NR_003678.1													p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378000													3	47					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381393	101381393	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr12:101381393G>T	ENST00000392979.3	+	7	935	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	ANO4_ENST00000392977.3_Missense_Mutation_p.D227Y|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	227						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACACTGCCAGACCTGGAGGA	0.498000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	151					4.16121e-05	4.49861e-05	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	254					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97564055	97564055	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr1:97564055G>A	ENST00000370192.3	-	21	2856	c.2756C>T	c.(2755-2757)cCt>cTt	p.P919L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	919					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTTGATGGTAGGAATAGGCCT	0.299000													3	121					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179637910	179637910	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:179637910A>G	ENST00000589042.1	-	33	8005	c.7781T>C	c.(7780-7782)aTg>aCg	p.M2594T	TTN_ENST00000591111.1_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M2548T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2328							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)			ATCTTTCATCATATTTAGAAC	0.313000													5	54					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													5	73					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1316275	1316275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr4:1316275G>A	ENST00000303400.4	+	4	626	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAEA_ENST00000505177.2_Missense_Mutation_p.R188Q|MAEA_ENST00000452175.2_Missense_Mutation_p.R109Q|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.R187Q|MAEA_ENST00000505839.1_Missense_Mutation_p.R140Q|MAEA_ENST00000514708.1_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	188	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			AACAAGTCCCGGCTCCGGAAG	0.652000													3	80					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618945	52618945	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr19:52618945T>C	ENST00000600228.1	-	4	1733	c.1472A>G	c.(1471-1473)aAa>aGa	p.K491R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTGTAAGGTTTCTCTCCAGT	0.403000													3	105					0	0	1	0	0
RP11-69H14.6	0	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													5	41					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119611907	119611907	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr6:119611907C>T	ENST00000368468.3	-	5	1279	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E303K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	280					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATATTTACTTCAAAGACAGAA	0.299000													9	68					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	rs113303801		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637000													3	40					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46334800	46334800	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr19:46334800C>T	ENST00000245934.7	-	12	1684	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	480					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCTTCACCACCTTCTCCTCCT	0.622000													3	17					0	0	1	0	0
PTPRA	0	broad.mit.edu	37	20	3005196	3005196	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr20:3005196G>A	ENST00000216877.6	+	16	1916	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	515					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACCTCTCTAGAAACCCACCT	0.433000													15	116					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163253255	163253255	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:163253255C>T	ENST00000332142.5	-	11	2707	c.2608G>A	c.(2608-2610)Gca>Aca	p.A870T		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	870					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TATACCTTTGCGCTCTCATGC	0.338000													4	33					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22880193	22880193	+	Silent	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr8:22880193G>T	ENST00000276431.4	-	9	1598	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A	TNFRSF10B_ENST00000542226.1_Silent_p.A258A|TNFRSF10B_ENST00000347739.3_Silent_p.A409A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	438					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTTAGGACATGGCAGAGTCTG	0.478000													3	41					1	1	1	1	0
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647000													4	221					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651647	121651647	+	Silent	SNP	C	C	T	rs147331896		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr7:121651647C>T	ENST00000393386.2	+	12	2958	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	849					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCAGCTACCGAGAGTGATA	0.478000													16	109					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78317633	78317633	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr15:78317633C>T	ENST00000409931.3	-	5	1125	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E352K			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	352						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTTAACTGTTCCAGCTCTTCC	0.547000													9	76					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15879270	15879270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr10:15879270T>C	ENST00000277632.3	-	6	729	c.509A>G	c.(508-510)gAc>gGc	p.D170G	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	170					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAATACTGGTCCAAGACAGC	0.333000													3	174					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742395	15742395	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr12:15742395C>T	ENST00000281171.4	+	25	3747	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000348962.2_Silent_p.G1111G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1139	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGTGCTGGCGTGGGACGGA	0.453000													7	160					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779562	133779562	+	Silent	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr9:133779562G>A	ENST00000372338.4	-	7	1517	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	425	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTGCGCACCGCGCAGGTACT	0.627000													21	88					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134040390	134040390	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr10:134040390T>C	ENST00000368622.1	-	4	583	c.202A>G	c.(202-204)Aac>Gac	p.N68D	STK32C_ENST00000368625.4_Missense_Mutation_p.N198D			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	185							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AACTGCACGTTCTGCTGCAGG	0.612000													7	65					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136749	104136749	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr10:104136749G>A	ENST00000369983.3	+	33	4603	c.4343G>A	c.(4342-4344)cGc>cAc	p.R1448H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1448					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGGGAACCGCTTCAAGAAG	0.517000													4	109					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50307319	50307319	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr20:50307319G>A	ENST00000338821.5	-	8	946	c.682C>T	c.(682-684)Cca>Tca	p.P228S	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	228					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAATATTTGGCTCTTCTGCG	0.463000													6	155					0	0	1	0	0
UCK2	7371	broad.mit.edu	37	1	165872479	165872479	+	Missense_Mutation	SNP	C	C	A	rs36009659	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr1:165872479C>A	ENST00000367879.4	+	5	863	c.560C>A	c.(559-561)aCg>aAg	p.T187K	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	187					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGTACATTACGTTCGTCAAG	0.383000													3	120					1	1	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27022376	27022376	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr17:27022376A>G	ENST00000314616.6	+	29	4064	c.3781A>G	c.(3781-3783)Atg>Gtg	p.M1261V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1261	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ctaGGTGGGAATGACTGTTCA	0.488000													10	29					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB2_ENST00000504772.3_5'UTR	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587000													4	144					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166229841	166229841	+	Missense_Mutation	SNP	G	G	A	rs121917753		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:166229841G>A	ENST00000375437.2	+	21	4246	c.3956G>A	c.(3955-3957)cGg>cAg	p.R1319Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1319Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1319Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1319Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1319			R -> Q (in BFIC3).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTTTGTCCCGGTTTGAAGGA	0.433000													11	52					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62777707	62777707	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr12:62777707A>C	ENST00000280377.5	+	10	1234	c.1176A>C	c.(1174-1176)ttA>ttC	p.L392F	USP15_ENST00000393654.3_Missense_Mutation_p.L367F|USP15_ENST00000353364.3_Missense_Mutation_p.L363F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	392					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGATGGATTACATGAGGATT	0.368000													10	42					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13612699	13612701	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:13612699_13612701delGAG	ENST00000404922.3	+	2	963_965	c.844_846delGAG	c.(844-846)del	p.E286del	FBLN2_ENST00000492059.1_In_Frame_Del_p.E286del|FBLN2_ENST00000295760.7_In_Frame_Del_p.E286del|FBLN2_ENST00000535798.1_In_Frame_Del_p.E312del	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	286	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ggaggaagaagaggaggaggagg	0.655													2	4	---	---	---	---					
ZBTB47	92999	broad.mit.edu	37	3	42700747	42700749	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:42700747_42700749delGGA	ENST00000232974.6	+	2	1181_1183	c.900_902delGGA	c.(898-903)cgg>cg	p.RE300del	ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000457842.3_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		gcagtggacgggaggaggaggag	0.626													2	4	---	---	---	---					
MAN2A1	4124	broad.mit.edu	37	5	109124684	109124684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr5:109124684delT	ENST00000261483.4	+	11	2862	c.1810delT	c.(1810-1812)ttfs	p.F604fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	604					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)		AAATTCTGCATTTCTTCTTAT	0.303													15	59	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctg>ct	p.LK2065del		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2065	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438													7	38	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)cfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													7	221	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													7	196	---	---	---	---					
RP11-248G5.8	0	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				RP11-64P12.8_ENST00000606031.1_RNA																							cgctattgctccccacccatc	0.537													3	4	---	---	---	---					
OSCAR	126014	broad.mit.edu	37	19	54598563	54598563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:54598563delC	ENST00000358375.4	-	5	760	c.715delG	c.(715-717)tcfs	p.V239fs	OSCAR_ENST00000351806.4_Frame_Shift_Del_p.V228fs|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.V243fs|OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000359649.4_3'UTR	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	0						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GAGATGAGGACCAGCCCGGCC	0.697													4	8	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	108	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													5	7	---	---	---	---					
AC018730.1	0	broad.mit.edu	37	2	105440960	105440965	+	RNA	DEL	TGGTGA	TGGTGA	-	rs150937258	by1000genomes	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:105440960_105440965delTGGTGA	ENST00000458253.1	-	0	147				AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000454729.1_RNA																							gtagtgatggtggtgatggtggtggt	0.568													3	3	---	---	---	---					
MAN2A1	4124	broad.mit.edu	37	5	109124684	109124684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr5:109124684delT	ENST00000261483.4	+	11	2862	c.1810delT	c.(1810-1812)ttfs	p.F604fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	604					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)		AAATTCTGCATTTCTTCTTAT	0.303													15	59	---	---	---	---					
PCDHB4	0	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(904-909)ttaaaafs	p.LK302fs		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366													9	150	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctg>ct	p.LK2065del		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2065	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438													7	38	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)cfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													7	221	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													7	66	---	---	---	---					
RP11-408B11.2	0	broad.mit.edu	37	12	85713212	85713214	+	RNA	DEL	TCC	TCC	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr12:85713212_85713214delTCC	ENST00000555596.1	+	0	78																											cttctcctcttcctcctcctcct	0.507													2	4	---	---	---	---					
OSCAR	126014	broad.mit.edu	37	19	54598563	54598563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr19:54598563delC	ENST00000358375.4	-	5	760	c.715delG	c.(715-717)tcfs	p.V239fs	OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.V243fs|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000351806.4_Frame_Shift_Del_p.V228fs	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	0						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GAGATGAGGACCAGCCCGGCC	0.697													4	8	---	---	---	---					
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtg>gt	p.VE150del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	150					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547													9	252	---	---	---	---