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
TENM1	10178	broad.mit.edu	37	X	123870929	123870929	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chrX:123870929C>A	ENST00000422452.2	-	4	717	c.654G>T	c.(652-654)agG>agT	p.R218S	TENM1_ENST00000371130.3_Missense_Mutation_p.R218S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCATTGATCTCCTCTGAAGAG	0.617000													57	12					2.12129e-23	2.45126e-23	1	1	0
MME	4311	broad.mit.edu	37	3	154832796	154832796	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr3:154832796C>G	ENST00000460393.1	+	4	330	c.210C>G	c.(208-210)atC>atG	p.I70M	MME_ENST00000493237.1_Missense_Mutation_p.I70M|MME_ENST00000492661.1_Missense_Mutation_p.I70M|MME_ENST00000477669.1_3'UTR|MME_ENST00000462745.1_Missense_Mutation_p.I70M|MME_ENST00000360490.2_Missense_Mutation_p.I70M	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	70					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CTCGACTGATCCAAAACATGG	0.433000													41	63					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162463806	162463806	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr4:162463806C>G	ENST00000306100.5	-	9	1491	c.1055G>C	c.(1054-1056)aGa>aCa	p.R352T	FSTL5_ENST00000536695.1_Missense_Mutation_p.R351T|FSTL5_ENST00000427802.2_Missense_Mutation_p.R351T|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.R351T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	352	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCCAGGCTCTCTAGCCTGACT	0.423000													35	45					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365031	13365031	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr6:13365031G>A	ENST00000379287.3	-	2	1781	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	GFOD1_ENST00000379284.1_Missense_Mutation_p.P270S	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	373						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AGGTAGGCGGGGCTCAGCTCC	0.607000													14	24					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	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													6	76					0	0	1	0	0
GNA12	2768	broad.mit.edu	37	7	2802277	2802277	+	Silent	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr7:2802277G>C	ENST00000407653.1	-	1	497	c.246C>G	c.(244-246)ctC>ctG	p.L82L	GNA12_ENST00000275364.3_Intron|GNA12_ENST00000407904.3_Intron|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_Intron|GNA12_ENST00000544127.1_Intron|GNA12_ENST00000396960.3_Silent_p.L10L	NM_001282440.1	NP_001269369.1	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	154					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		ATGAAGCACAGAGCGGCAGGA	0.507000													5	12					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1099443	1099443	+	Silent	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr11:1099443C>T	ENST00000441003.2	+	39	7311	c.7284C>T	c.(7282-7284)gtC>gtT	p.V2428V		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4790						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACAACACAGTCCTGGTGGAAG	0.622000													5	4					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	981368	981368	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr1:981368C>T	ENST00000379370.2	+	16	2755	c.2705C>T	c.(2704-2706)gCg>gTg	p.A902V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	902					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.A902V(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCGACCTGTGCGGAGATGCGC	0.667000													3	49					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98961227	98961227	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr7:98961227G>A	ENST00000432884.2	+	11	1365	c.904G>A	c.(904-906)Gat>Aat	p.D302N	ARPC1A_ENST00000262942.5_Missense_Mutation_p.D349N			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	349					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TACTGGCATCGATGGAGCCAT	0.338000													3	44					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32944516	32944516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr6:32944516C>T	ENST00000395289.2	+	7	2604	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	BRD2_ENST00000395287.1_Nonsense_Mutation_p.Q335*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.Q215*|BRD2_ENST00000374825.4_Nonsense_Mutation_p.Q335*|BRD2_ENST00000374831.4_Nonsense_Mutation_p.Q335*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.Q288*			P25440	BRD2_HUMAN	bromodomain containing 2	335					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GCCTGACTCTCAGCAACAACA	0.507000													13	118					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123629521	123629521	+	Splice_Site	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr10:123629521C>T	ENST00000369043.3	-	8	1061	c.975G>A	c.(973-975)gaG>gaA	p.E325E	ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Splice_Site_p.E210E|ATE1_ENST00000224652.6_Splice_Site_p.E325E|ATE1_ENST00000369040.3_Splice_Site_p.E229E|ATE1_ENST00000535655.1_Splice_Site_p.E26E|ATE1_ENST00000540606.1_Splice_Site_p.E318E	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	325					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TAACTCTTACCTCCAAGGGTG	0.353000													24	31					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8916924	8916924	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr2:8916924G>C	ENST00000256707.3	-	21	2983	c.2802C>G	c.(2800-2802)atC>atG	p.I934M	KIDINS220_ENST00000427284.1_Missense_Mutation_p.I934M|KIDINS220_ENST00000418530.1_Missense_Mutation_p.I892M|KIDINS220_ENST00000319688.5_Missense_Mutation_p.I935M|KIDINS220_ENST00000473731.1_Missense_Mutation_p.I934M	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	934	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTGGGGACTGATGTCACTGA	0.418000													22	24					0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150056365	150056365	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr5:150056365C>G	ENST00000520112.1	+	2	543	c.433C>G	c.(433-435)Ccg>Gcg	p.P145A	MYOZ3_ENST00000517768.1_Silent_p.L228L|MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000297130.4_Silent_p.L228L			Q8TDC0	MYOZ3_HUMAN	myozenin 3	152						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAACTCCTCCGTCTCAGAC	0.637000													11	110					0	0	1	0	0
ZNF552	79818	broad.mit.edu	37	19	58320107	58320107	+	Silent	SNP	C	C	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr19:58320107C>A	ENST00000391701.1	-	3	694	c.525G>T	c.(523-525)ggG>ggT	p.G175G	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAAAGTCTTTCCCACTCTCAC	0.493000													45	71					1.68508e-10	1.82551e-10	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208272270	208272270	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr1:208272270C>T	ENST00000367033.3	-	6	2409	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	551					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCAGCAAATCGATTAGGTTC	0.552000													6	13					0	0	1	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32122463	32122463	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr6:32122463C>T	ENST00000422437.1	+	2	283	c.92C>T	c.(91-93)cCc>cTc	p.P31L	PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000395523.1_Missense_Mutation_p.P31L|PPT2_ENST00000493548.1_3'UTR|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.P37L|PPT2_ENST00000375143.2_Missense_Mutation_p.P31L|PPT2_ENST00000375137.2_Missense_Mutation_p.P31L|PPT2_ENST00000324816.6_Missense_Mutation_p.P31L|PPT2_ENST00000445576.2_Missense_Mutation_p.P31L																							GCCCCCGCGCCCCACCGCGCG	0.672000													5	93					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323649	79323649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr9:79323649C>A	ENST00000428286.1	-	8	3664	c.2464G>T	c.(2464-2466)Gaa>Taa	p.E822*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.E1181*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1181					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGATTTGCTTCCTGATACTCC	0.517000													31	57					3.1745e-13	3.51221e-13	1	1	0
TMEM243	79161	broad.mit.edu	37	7	86827304	86827304	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr7:86827304A>G	ENST00000433078.1	-	4	628	c.187T>C	c.(187-189)Ttc>Ctc	p.F63L	TMEM243_ENST00000423734.1_Missense_Mutation_p.F63L|TMEM243_ENST00000257637.3_Missense_Mutation_p.F63L|TMEM243_ENST00000481425.1_5'UTR					transmembrane protein 243, mitochondrial																		ACAGCAAAGAATATATTCAAC	0.368000													40	60					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151860461	151860461	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr7:151860461T>A	ENST00000355193.2	-	43	10419	c.10201A>T	c.(10201-10203)Aag>Tag	p.K3401*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.K3401*					lysine (K)-specific methyltransferase 2C																		AAACGTTCCTTACGTTCCCGT	0.463000													78	112					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123519800	123519800	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chrX:123519800G>A	ENST00000422452.2	-	29	5866	c.5803C>T	c.(5803-5805)Ctt>Ttt	p.L1935F	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.L1928F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCCACTGAAAGCATGGTTTGT	0.507000													43	4					0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78045300	78045300	+	Silent	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr14:78045300G>A	ENST00000216484.2	-	3	673	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	160						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGACTCACTTGAAGGACCAGT	0.383000													25	34					0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6061422	6061422	+	Silent	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr10:6061422C>T	ENST00000379959.3	-	6	869	c.696G>A	c.(694-696)acG>acA	p.T232T	IL2RA_ENST00000256876.6_Silent_p.T223T|IL2RA_ENST00000379954.1_Silent_p.T160T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	232					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TAAATATGGACGTCTCCATGG	0.468000													32	69					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8722197	8722197	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr20:8722197G>A	ENST00000378641.3	+	23	2975	c.2500G>A	c.(2500-2502)Gat>Aat	p.D834N	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.D834N|PLCB1_ENST00000378637.2_Missense_Mutation_p.D834N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	834					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GACACTGGAAGATGAAGAAGA	0.388000													13	21					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91792393	91792393	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr14:91792393C>T	ENST00000389857.6	-	11	1144	c.1058G>A	c.(1057-1059)aGa>aAa	p.R353K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	353					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ATTATCTTCTCTCAGCTCCTG	0.458000													6	5					0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18305642	18305642	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr19:18305642G>T	ENST00000599612.2	+	3	514	c.414G>T	c.(412-414)gaG>gaT	p.E138D		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	138						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						AGCTGCGGGAGAAGTTCTGGG	0.647000													4	12					0.014758	0.0149013	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761879	96761879	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr4:96761879G>A	ENST00000295266.4	+	1	641	c.578G>A	c.(577-579)gGg>gAg	p.G193E		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	193					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACTTTATATGGGGATGGCGCT	0.488000													36	54					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	99					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530312	140530312	+	Silent	SNP	T	T	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr5:140530312T>C	ENST00000231136.1	+	1	474	c.474T>C	c.(472-474)gaT>gaC	p.D158D	PCDHB6_ENST00000543635.1_Silent_p.D22D	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		158	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCACACGATTTAGACACCG	0.498000													74	115					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52255371	52255371	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr3:52255371G>C	ENST00000494383.1	-	5	3420	c.3421C>G	c.(3421-3423)Ctg>Gtg	p.L1141V	TLR9_ENST00000597542.1_Silent_p.L1011L|TLR9_ENST00000360658.2_Silent_p.L987L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCTGGCGGCAGAGGCGCTGGC	0.701000													24	32					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288250	132288250	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr2:132288250C>T	ENST00000467992.2	+	1	1014	c.700C>T	c.(700-702)Cct>Tct	p.P234S	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.P132S			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	132										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGGACCCAGCCCTGCCAGGCT	0.667000													16	41					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186790663	186790663	+	Silent	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr3:186790663C>G	ENST00000169298.3	+	6	1406	c.732C>G	c.(730-732)ctC>ctG	p.L244L	ST6GAL1_ENST00000457772.2_Silent_p.L13L|ST6GAL1_ENST00000448044.1_Silent_p.L244L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	244					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		AGCGCTTCCTCAAAGACAGTT	0.428000													16	140					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586585	86586585	+	Splice_Site	SNP	A	A	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr9:86586585A>C	ENST00000376263.3	-	12	1232		c.e12+1		HNRNPK_ENST00000351839.3_Splice_Site|HNRNPK_ENST00000376281.4_Splice_Site|HNRNPK_ENST00000376264.2_Splice_Site|HNRNPK_ENST00000360384.5_Splice_Site	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K						interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CAAAGTTCTTACCATGCCGTC	0.418000													58	79					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190739	48190739	+	Silent	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr18:48190739C>G	ENST00000400384.2	+	2	1447	c.411C>G	c.(409-411)ctC>ctG	p.L137L	MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000588540.1_Silent_p.L137L|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Silent_p.L137L	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	137	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCCGCGGGCTCAAGTACATCC	0.597000													29	36					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169484757	169484757	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr1:169484757C>G	ENST00000367796.3	-	24	6669	c.6468G>C	c.(6466-6468)aaG>aaC	p.K2156N	F5_ENST00000367797.3_Missense_Mutation_p.K2151N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2151	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGGTATAGCTCTTTACATACA	0.443000													59	88					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319043	19319043	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr17:19319043C>G	ENST00000461366.1	+	14	1666	c.1451C>G	c.(1450-1452)tCt>tGt	p.S484C		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	484							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGCATATTCTCTGCGCTGCGG	0.607000													7	31					0	0	1	0	0
EFHD2	79180	broad.mit.edu	37	1	15736684	15736684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr1:15736684C>T	ENST00000375980.4	+	1	294	c.217C>T	c.(217-219)Cag>Tag	p.Q73*		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	73						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGAGCCCCAGTCGCCCAG	0.657000													13	22					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803564	1803564	+	Missense_Mutation	SNP	C	C	T	rs121913482		TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr4:1803564C>T	ENST00000340107.4	+	7	998	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.R248C|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	248			R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCCCACAGAGCGCTCCCCGCA	0.741000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				11	5					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394604	29394604	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr6:29394604G>A	ENST00000377149.1	-	5	1287	c.815C>T	c.(814-816)tCc>tTc	p.S272F	OR11A1_ENST00000377147.2_Missense_Mutation_p.S272F|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.S272F			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GAAGACCTTGGAGAGGAGCTG	0.502000													30	57					0	0	1	0	0
FADD	8772	broad.mit.edu	37	11	70052399	70052399	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr11:70052399G>C	ENST00000301838.4	+	2	744	c.447G>C	c.(445-447)aaG>aaC	p.K149N	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	149	Death.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAATCTGGAAGAACACAGAGA	0.572000													4	51					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741378	140741378	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr5:140741378C>T	ENST00000522605.1	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGACAATGCGCCACGGGTG	0.692000													14	43					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70818258	70818258	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr5:70818258G>C	ENST00000358731.4	+	23	5397	c.5134G>C	c.(5134-5136)Ggc>Cgc	p.G1712R	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	1712					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)		GAGCAAGGAAGGCAAGCCAGA	0.378000													40	63					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28447299	28447299	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr15:28447299T>A	ENST00000261609.7	-	47	7685	c.7577A>T	c.(7576-7578)gAg>gTg	p.E2526V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2526					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACCACCTCCTCGTCAGAATA	0.612000													7	25					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87751887	87751887	+	Missense_Mutation	SNP	T	T	C	rs35077504		TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr8:87751887T>C	ENST00000320005.5	-	2	254	c.207A>G	c.(205-207)atA>atG	p.I69M	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	69					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTGACCTTGTATGTTGGTGT	0.338000													20	19					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999588	72999588	+	Silent	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr18:72999588C>T	ENST00000322038.5	+	2	2675	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	TSHZ1_ENST00000580243.1_Silent_p.F742F	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	742						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGCCTTCCTTCATCAACCCGC	0.577000													16	21					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38102907	38102907	+	Silent	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr19:38102907C>T	ENST00000592533.1	+	5	1058	c.726C>T	c.(724-726)ccC>ccT	p.P242P	ZNF540_ENST00000316433.4_Silent_p.P242P|ZNF540_ENST00000343599.5_Silent_p.P242P|ZNF540_ENST00000589117.1_Silent_p.P210P	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCCTATGAATGTC	0.353000													15	25					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28761224	28761224	+	Silent	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr2:28761224G>C	ENST00000422425.2	+	10	671	c.627G>C	c.(625-627)ggG>ggC	p.G209G	PLB1_ENST00000327757.5_Silent_p.G198G	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	198	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGCTGATGGGGGTGCTGGACT	0.667000													4	18					0	0	1	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18814555	18814555	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr17:18814555G>C	ENST00000268835.2	+	9	1007	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	PRPSAP2_ENST00000536323.1_Missense_Mutation_p.E156Q|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.E202Q|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.E242Q	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	242					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CCCCAGCCTGGAGATCCCCAG	0.527000													19	48					0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17924741	17924741	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr8:17924741C>A	ENST00000262097.6	-	5	681	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	ASAH1_ENST00000381733.4_Missense_Mutation_p.D140Y|ASAH1_ENST00000314146.10_Missense_Mutation_p.D118Y|ASAH1_ENST00000417108.2_Missense_Mutation_p.D59Y|ASAH1_ENST00000520781.1_Missense_Mutation_p.D124Y	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	124			D -> E (in dbSNP:rs2472205).		ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		AAAGGTATATCAGTAACAGCG	0.343000													12	15					4.36969e-10	4.68503e-10	1	1	0
PRR12	57479	broad.mit.edu	37	19	50119181	50119181	+	Silent	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr19:50119181C>T	ENST00000418929.2	+	9	5214	c.5202C>T	c.(5200-5202)ctC>ctT	p.L1734L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	913							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGCCCTCCCTCCTGCGGCCTG	0.647000													4	5					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3240188	3240188	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr20:3240188G>T	ENST00000252032.9	-	33	3060	c.2993C>A	c.(2992-2994)tCc>tAc	p.S998Y	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	998										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGCTTGATGGAGGACTGAAT	0.542000													19	36					6.94344e-10	7.36855e-10	1	1	0
LDLR	3949	broad.mit.edu	37	19	11242044	11242044	+	Silent	SNP	G	G	A	rs14158	byFrequency	TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr19:11242044G>A	ENST00000557933.1	+	18	2784	c.2697G>A	c.(2695-2697)ccG>ccA	p.P899P	LDLR_ENST00000545707.1_3'UTR|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558518.1_3'UTR|LDLR_ENST00000558013.1_3'UTR|LDLR_ENST00000535915.1_3'UTR|LDLR_ENST00000455727.2_3'UTR			P01130	LDLR_HUMAN	low density lipoprotein receptor	0					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	AGACCTCGCCGGCCTTGTTTT	0.507000											OREG0025249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	48					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17382623	17382623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr7:17382623C>T	ENST00000242057.4	+	11	3125	c.2482C>T	c.(2482-2484)Cag>Tag	p.Q828*		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	828				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CACACATCTTCAGCCACTTCA	0.378000													14	149					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													10	20					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58980000	58980000	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr11:58980000G>C	ENST00000361050.3	-	1	424	c.339C>G	c.(337-339)taC>taG	p.Y113*		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	113	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGTTGATGGAGTAGGAGGTGC	0.453000													60	89					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24349447	24349447	+	Missense_Mutation	SNP	C	C	T	rs144309204		TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr8:24349447C>T	ENST00000175238.6	+	14	1471	c.1388C>T	c.(1387-1389)gCg>gTg	p.A463V	ADAM7_ENST00000520720.1_Missense_Mutation_p.A235V|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.A463V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	463	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGCAGACCGGCGAAAGATGAA	0.443000													11	26					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10403647	10403647	+	Silent	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr5:10403647G>C	ENST00000274140.5	+	15	1458	c.1326G>C	c.(1324-1326)ctG>ctC	p.L442L	MARCH6_ENST00000449913.2_Silent_p.L394L|MARCH6_ENST00000503788.1_Silent_p.L337L|MARCH6_ENST00000510792.1_Silent_p.L140L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	442					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTCTACTACTGAGAGAGGTAA	0.428000													6	70					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172585837	172585837	+	Silent	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr5:172585837C>G	ENST00000231668.9	+	5	593	c.489C>G	c.(487-489)ctC>ctG	p.L163L	BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Silent_p.L120L|BNIP1_ENST00000352523.6_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	120					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGGAGATCTCTTAAGGCAAA	0.423000													25	41					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69954464	69954464	+	Silent	SNP	T	T	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr11:69954464T>C	ENST00000355303.5	+	6	1058	c.753T>C	c.(751-753)taT>taC	p.Y251Y	ANO1_ENST00000531349.1_5'UTR|ANO1_ENST00000398543.2_Silent_p.Y135Y|ANO1_ENST00000538023.1_Silent_p.Y251Y|ANO1_ENST00000316296.5_Silent_p.Y223Y|ANO1_ENST00000530676.1_Silent_p.Y135Y	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	251					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						AATAGGTCTATGAGATCTTGA	0.502000													4	51					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87635188	87635188	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr9:87635188C>T	ENST00000376214.1	+	20	3178	c.2240C>T	c.(2239-2241)aCg>aTg	p.T747M	NTRK2_ENST00000277120.3_Missense_Mutation_p.T747M|NTRK2_ENST00000323115.4_Missense_Mutation_p.T731M|NTRK2_ENST00000376213.1_Missense_Mutation_p.T731M	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	731	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AGGAAATTCACGACGGAAAGC	0.547000										TSP Lung(25;0.17)			48	55					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10625856	10625856	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr20:10625856T>C	ENST00000254958.5	-	17	2677	c.2162A>G	c.(2161-2163)tAt>tGt	p.Y721C	JAG1_ENST00000423891.2_Missense_Mutation_p.Y562C|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	721	EGF-like 13.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCCCTCATCATAGCAGGTGCC	0.542000									Alagille Syndrome				30	35					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12934082	12934082	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr6:12934082G>C	ENST00000379348.2	+	4	645	c.468G>C	c.(466-468)agG>agC	p.R156S	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTAAGAGAAGGAGGGTGGTTT	0.512000													12	13					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228283	140228283	+	Missense_Mutation	SNP	C	C	T	rs71588635		TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr5:140228283C>T	ENST00000378122.3	+	1	927	c.203C>T	c.(202-204)tCc>tTc	p.S68F	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S68F|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTGGATTCCAAAGGCCGC	0.642000													7	198					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10355185	10355185	+	Silent	SNP	T	T	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr1:10355185T>A	ENST00000377086.1	+	18	1834	c.1632T>A	c.(1630-1632)tcT>tcA	p.S544S	KIF1B_ENST00000377093.4_Silent_p.S498S|KIF1B_ENST00000377081.1_Silent_p.S544S|KIF1B_ENST00000377083.1_Silent_p.S498S|KIF1B_ENST00000263934.6_Silent_p.S498S			O60333	KIF1B_HUMAN	kinesin family member 1B	544					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTAATGTCTGAGTGCCTAC	0.388000													26	23					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70572316	70572316	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr16:70572316G>C	ENST00000302516.5	+	7	1127	c.916G>C	c.(916-918)Gag>Cag	p.E306Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	306					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGCTCAAACTGAGCAGGGAGA	0.408000													38	53					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109405321	109405321	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr2:109405321C>G	ENST00000295124.4	+	3	225	c.165C>G	c.(163-165)atC>atG	p.I55M	CCDC138_ENST00000412964.2_Missense_Mutation_p.I55M|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	55										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ATTTGGATATCTACTCTGGAG	0.348000													38	41					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214537996	214537996	+	Silent	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr1:214537996C>T	ENST00000366956.5	-	18	3488	c.3294G>A	c.(3292-3294)tcG>tcA	p.S1098S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1098	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCGACGGACCGACTGGATCT	0.587000													3	46					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22938109	22938109	+	RNA	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr14:22938109G>C	ENST00000514473.2	-	0	225				TRDV3_ENST00000535880.2_RNA|AE000661.37_ENST00000556777.1_RNA																							TTCTGGGTCAGAATGTGTTTC	0.443000													27	31					0	0	1	0	0
RPL28	6158	broad.mit.edu	37	19	55898022	55898022	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr19:55898022G>A	ENST00000344063.2	+	3	795	c.166G>A	c.(166-168)Gac>Aac	p.D56N	RPL28_ENST00000560583.1_Missense_Mutation_p.D56N|RPL28_ENST00000560055.1_Missense_Mutation_p.D56N|RPL28_ENST00000558815.1_Missense_Mutation_p.D56N|RPL28_ENST00000558131.1_Missense_Mutation_p.D56N|RPL28_ENST00000428193.2_Missense_Mutation_p.D56N|RPL28_ENST00000458349.2_Missense_Mutation_p.D56N|RPL28_ENST00000431533.2_Missense_Mutation_p.D56N|RPL28_ENST00000559463.1_Missense_Mutation_p.D56N|RPL28_ENST00000558752.1_Missense_Mutation_p.D56N			P46779	RL28_HUMAN	ribosomal protein L28	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCCGGCAGCCGACGGCAAAGG	0.602000													8	92					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273251	145273251	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr1:145273251G>T	ENST00000369340.3	+	4	549	c.105G>T	c.(103-105)caG>caT	p.Q35H	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.Q35H|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.Q35H|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.Q35H			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	35	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ACCGCTGCCAGAATGGTGGGA	0.532000													26	142					3.11337e-16	3.48162e-16	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44941858	44941858	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chrX:44941858C>G	ENST00000377967.4	+	21	3223	c.3182C>G	c.(3181-3183)tCa>tGa	p.S1061*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S982*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S1016*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S1068*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1061					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAGACCACTCAGATAGTGAA	0.313000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								16	3					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883761	39883761	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr22:39883761C>T	ENST00000341184.6	+	2	624	c.409C>T	c.(409-411)Cct>Tct	p.P137S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	137					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGAGGAGAAGCCTGAGGGGGC	0.741000													4	4					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588793	6588793	+	Silent	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr4:6588793C>T	ENST00000285599.3	+	4	498	c.462C>T	c.(460-462)ggC>ggT	p.G154G	MAN2B2_ENST00000504248.1_Silent_p.G154G	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	154					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACCCGTTTGGCGCCTCTGCCA	0.612000													3	41					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30941252	30941252	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr8:30941252A>G	ENST00000298139.5	+	10	1556	c.1307A>G	c.(1306-1308)tAt>tGt	p.Y436C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	436	2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GATACGTCCTATGTAATTGAG	0.274000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				13	20					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41542788	41542788	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr22:41542788A>T	ENST00000263253.7	+	11	3318	c.2099A>T	c.(2098-2100)aAc>aTc	p.N700I		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	700					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTGTGCCAAACCAGATGATG	0.383000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				3	52					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125874007	125874007	+	Translation_Start_Site	SNP	G	G	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr11:125874007G>T	ENST00000531738.1	-	0	333				CDON_ENST00000392693.3_Intron|CDON_ENST00000263577.7_Intron			Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated						cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AAGAAAAGCAGGAGATGGAGG	0.418000													6	14					4.096e-09	4.30287e-09	1	1	0
PSG2	5670	broad.mit.edu	37	19	43579718	43579718	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr19:43579718A>T	ENST00000406487.1	-	3	595	c.497T>A	c.(496-498)aTc>aAc	p.I166N		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	166	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACAGGTTAAGATCACAGTTTC	0.517000													111	166					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130580469	130580469	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr9:130580469A>T	ENST00000344849.3	-	12	1896	c.1616T>A	c.(1615-1617)gTa>gAa	p.V539E	ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000373203.4_Missense_Mutation_p.V539E			P17813	EGLN_HUMAN	endoglin	539	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGGTATGGGTACTGTGTAGAA	0.662000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				19	24					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32749720	32749720	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr13:32749720T>C	ENST00000380250.3	+	20	2868	c.2372T>C	c.(2371-2373)cTa>cCa	p.L791P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGGATCAGCTAAGTTCTTCC	0.438000													26	23					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172585777	172585777	+	Silent	SNP	C	C	G			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr5:172585777C>G	ENST00000231668.9	+	5	533	c.429C>G	c.(427-429)ctC>ctG	p.L143L	BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Silent_p.L100L|BNIP1_ENST00000352523.6_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	100					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGCTAATCTCACCTGCAAAA	0.448000													27	50					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9256874	9256874	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr12:9256874G>C	ENST00000318602.7	-	11	1534	c.1227C>G	c.(1225-1227)atC>atG	p.I409M		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	409					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGGTGGTGTTGATAGAGAACT	0.408000													7	6					0	0	1	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27783103	27783103	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr6:27783103G>T	ENST00000359465.4	+	1	282	c.282G>T	c.(280-282)gaG>gaT	p.E94D		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	94					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CTTCGAGGGAGATCCAGACGG	0.587000													34	42					1.62565e-12	1.77966e-12	1	1	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	30					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131761947	131761947	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr10:131761947G>T	ENST00000368648.3	-	1	158	c.86C>A	c.(85-87)tCg>tAg	p.S29*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.S29*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	29					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTGCATCCACGAGCGCACCGG	0.721000													14	28					6.31663e-08	6.56929e-08	1	1	0
SNX20	124460	broad.mit.edu	37	16	50707941	50707941	+	Silent	SNP	G	G	A			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr16:50707941G>A	ENST00000330943.4	-	4	498	c.327C>T	c.(325-327)aaC>aaT	p.N109N	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	109	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGACGGCCTTGTTGTTGTCAA	0.602000													18	24					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538894	38538894	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr21:38538894C>T	ENST00000399017.2	+	33	7125	c.4378C>T	c.(4378-4380)Cac>Tac	p.H1460Y	TTC3_ENST00000354749.2_Missense_Mutation_p.H1460Y|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.H1460Y	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1460					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAACATTCCACACGTGCAGAT	0.358000													24	32					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256307	52256307	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr3:52256307G>T	ENST00000597542.1	-	9	3054	c.2097C>A	c.(2095-2097)ttC>ttA	p.F699L	TLR9_ENST00000494383.1_Missense_Mutation_p.P829T|TLR9_ENST00000360658.2_Missense_Mutation_p.F675L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	675					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTTTGGGCAGGAAGTGGAGGC	0.617000													43	49					3.05275e-18	3.45093e-18	1	1	0
SEC14L2	23541	broad.mit.edu	37	22	30818363	30818363	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr22:30818363G>T	ENST00000312932.9	+	12	1439	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	SEC14L2_ENST00000403484.1_Missense_Mutation_p.K319N|SEC14L2_ENST00000402592.3_Missense_Mutation_p.K310N|RP4-539M6.19_ENST00000439838.1_Intron	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	393					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAGAAGAGAAGATGAAACAGC	0.517000													30	37					2.4375e-19	2.78571e-19	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168115601	168115601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr2:168115601delA	ENST00000409728.1	+	11	2733	c.2644delA	c.(2644-2646)aaafs	p.K882fs	XIRP2_ENST00000409605.1_Frame_Shift_Del_p.K627fs|XIRP2_ENST00000409756.2_Frame_Shift_Del_p.K849fs|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Del_p.K882fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Frame_Shift_Del_p.K849fs|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTTCCAAGAAAAATGAGAA	0.299													14	34	---	---	---	---					
CNR1	1268	broad.mit.edu	37	6	88854860	88854860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr6:88854860delG	ENST00000537554.1	-	2	3696	c.134delC	c.(133-135)ccafs	p.P45fs	CNR1_ENST00000428600.2_Frame_Shift_Del_p.P45fs|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000549890.1_Frame_Shift_Del_p.P45fs|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000369499.2_Frame_Shift_Del_p.P45fs|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000535130.1_Frame_Shift_Del_p.P45fs|CNR1_ENST00000369501.2_Frame_Shift_Del_p.P45fs	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	45					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAATTTCTGTGGGAAGTACCC	0.498													37	34	---	---	---	---					
DZIP1	22873	broad.mit.edu	37	13	96264368	96264369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A47Y-01A-11D-A23U-08	TCGA-CF-A47Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7cc5ca5-af6e-4148-ad09-e176c6c9ae60	5aed5223-6b9c-4905-b96a-b64682883413	g.chr13:96264368_96264369insC	ENST00000347108.3	-	9	1668_1669	c.1236_1237insG	c.(1234-1239)gttttcfs	p.F413fs	DZIP1_ENST00000376829.2_Frame_Shift_Ins_p.F413fs|DZIP1_ENST00000361396.2_Frame_Shift_Ins_p.F413fs|DZIP1_ENST00000361156.3_Frame_Shift_Ins_p.F413fs			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	413					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ttcttatagaaaacattgcttg	0.421													43	48	---	---	---	---					
