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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ACACB	32	broad.mit.edu	37	12	109629452	109629452	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:109629452C>T	uc001tob.3	+	13	2298	c.2179C>T	c.(2179-2181)Cga>Tga	p.R727*	ACACB_uc001toc.3_Nonsense_Mutation_p.R727*	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	727	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.R727R(2)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACTGTCCATCCGAGGCGACTT	0.488000														100			14		0	0	0.004007	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925412	114925412	+	Missense_Mutation	SNP	C	T	T	rs61724286		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:114925412C>T	uc021pyi.1	+	14	2048	c.1541C>T	c.(1540-1542)cCg>cTg	p.P514L	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_3'UTR|TCF7L2_uc001lae.4_Missense_Mutation_p.P497L|TCF7L2_uc010qrm.2_3'UTR|TCF7L2_uc010qrn.2_3'UTR|TCF7L2_uc021pyg.1_Missense_Mutation_p.P230L|TCF7L2_uc021pyh.1_3'UTR|TCF7L2_uc021pyj.1_3'UTR|TCF7L2_uc021pyk.1_Missense_Mutation_p.P479L|TCF7L2_uc021pyl.1_3'UTR|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_3'UTR|TCF7L2_uc021pyn.1_Missense_Mutation_p.P502L|TCF7L2_uc021pyo.1_3'UTR|TCF7L2_uc021pyp.1_3'UTR|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Missense_Mutation_p.P491L|TCF7L2_uc010qrk.2_3'UTR|TCF7L2_uc001lad.4_3'UTR|TCF7L2_uc001lag.4_3'UTR|TCF7L2_uc001laf.4_Missense_Mutation_p.P474L|TCF7L2_uc010qrl.2_Missense_Mutation_p.P474L|TCF7L2_uc010qrr.2_Missense_Mutation_p.P429L|TCF7L2_uc010qrs.2_Missense_Mutation_p.P385L|TCF7L2_uc010qrt.2_Missense_Mutation_p.P385L|TCF7L2_uc010qru.2_3'UTR|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	514					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCCCCCTCCCCGAACCTGCTA	0.602000			T	VTI1A	colorectal									168			25		0	0	0.005443	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392257	1392257	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:1392257C>T	uc002clk.2	+	10	1193	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	BAIAP3_uc010uuz.2_Silent_p.F310F|BAIAP3_uc010uva.2_Silent_p.F282F|BAIAP3_uc021tag.1_Silent_p.F287F|BAIAP3_uc002clj.3_Silent_p.F327F|BAIAP3_uc010uvb.2_Silent_p.F362F|BAIAP3_uc010uvc.1_Silent_p.F310F	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	345					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCGATGACTTCCTGGGGTGCC	0.617000														42			14		0	0	0.002450	0	0
CDH10	1008	broad.mit.edu	37	5	24511442	24511442	+	Silent	SNP	C	T	T	rs141628395		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:24511442C>T	uc003jgr.2	-	5	1502	c.996G>A	c.(994-996)gtG>gtA	p.V332V	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	332	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCACCTTTTTCACAGTGATGA	0.403000										HNSCC(23;0.051)				118			12		0	0	0.010729	0	0
CRYGN	155051	broad.mit.edu	37	7	151135252	151135252	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:151135252C>T	uc003wke.3	-	1	196	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	CRYGN_uc003wkf.3_Missense_Mutation_p.G34S|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	34	Beta/gamma crystallin 'Greek key' 1.							p.R33L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCATAAAGCCCCGGTCCTGG	0.567000														44			14		0	0	0.001855	0	0
UTP20	27340	broad.mit.edu	37	12	101703550	101703550	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:101703550C>T	uc001tia.1	+	18	2320	c.2164C>T	c.(2164-2166)Cgt>Tgt	p.R722C		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	722					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.R722H(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTGCCGCTTCGTTATTTGTT	0.358000														140			19		0	0	0.008871	0	0
DSC3	1825	broad.mit.edu	37	18	28588419	28588419	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:28588419C>T	uc002kwj.4	-	9	1491	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	DSC3_uc002kwi.4_Missense_Mutation_p.D446N	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	446	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGGGAATATCTCTAGCAAAT	0.443000														59			8		0	0	0.004482	0	0
FAM59A	64762	broad.mit.edu	37	18	29867077	29867077	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:29867077G>A	uc002kxl.3	-	3	1539	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	FAM59A_uc002kxk.2_Missense_Mutation_p.P495S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	495										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CCAGGGATGGGAAGAGGAGAA	0.522000														109			23		0	0	0.014323	0	0
EPHB2	2048	broad.mit.edu	37	1	23191389	23191389	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:23191389G>A	uc009vqj.1	+	4	1132	c.987G>A	c.(985-987)caG>caA	p.Q329Q	EPHB2_uc001bge.3_Silent_p.Q329Q|EPHB2_uc001bgf.3_Silent_p.Q329Q|EPHB2_uc010odu.2_Silent_p.Q329Q|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	329	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCGCGCCCCAGGCTGTGATTT	0.637000														67			17		0	0	0.004990	0	0
OR10T2	128360	broad.mit.edu	37	1	158369106	158369106	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158369106G>A	uc010pih.2	-	0	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAGCTGAAGCGAATAACGGCC	0.483000														30			6		0	0	0.001168	0	0
FCGBP	8857	broad.mit.edu	37	19	40424155	40424155	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:40424155G>A	uc002omp.4	-	3	2056	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	683	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGCGAAGGGGCCATCGAG	0.637000														193			30		0	0	0.009535	0	0
DUSP27	92235	broad.mit.edu	37	1	167095846	167095846	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:167095846G>A	uc001geb.1	+	4	1494	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	493					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGGCTTCCCGGAGGTACCAC	0.647000														46			5		0	0	0.000602	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852210	16852210	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:16852210T>G	uc002gqs.1	-	2	300	c.287A>C	c.(286-288)cAc>cCc	p.H96P	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.H50P	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	96					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTGCTTAGGGTGCTGTCCACA	0.532000									IgA Deficiency, Selective					93			14		0	0	0.001855	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685372	19685372	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:19685372C>T	uc002ykw.3	-	17	2086	c.2055G>A	c.(2053-2055)acG>acA	p.T685T		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	685	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CATTGTTGTTCGTtgtgccat	0.443000														72			6		0	0	0.001984	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164020	141164020	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:141164020G>A	uc010hup.3	+	1	2840	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	ZBTB38_uc003etw.3_Silent_p.Q930Q|ZBTB38_uc010hun.3_Silent_p.Q927Q|ZBTB38_uc010huo.3_Silent_p.Q930Q|ZBTB38_uc003ety.3_Silent_p.Q930Q|ZBTB38_uc021xes.1_Silent_p.Q930Q	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	930					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AATCCAGACAGTTGAAAAAAA	0.483000														42			5		0	0	0.000602	0	0
MYH8	4626	broad.mit.edu	37	17	10299733	10299733	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:10299733C>T	uc002gmm.2	-	32	4662	c.4567G>A	c.(4567-4569)Gga>Aga	p.G1523R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1523					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTTGCTTTCCTCCCTCTGCA	0.423000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					43			5		0	0	0.000602	0	0
DNAH7	56171	broad.mit.edu	37	2	196729521	196729521	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:196729521G>A	uc002utj.4	-	40	6959	c.6858C>T	c.(6856-6858)atC>atT	p.I2286I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2286					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCACATCTGCGATTTCTCTGT	0.378000														97			16		0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794564	140794564	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140794564C>T	uc003lkl.2	+	0	1822	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.L608L|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	605	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCTGGCTGTCCTACCG	0.711000														73			19		0	0	0.010504	0	0
C2CD2	25966	broad.mit.edu	37	21	43342110	43342110	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:43342110C>T	uc002yzw.3	-	2	705	c.463G>A	c.(463-465)Gac>Aac	p.D155N	C2CD2_uc002yzu.3_5'Flank|C2CD2_uc002yzv.3_5'UTR|C2CD2_uc002yzx.1_5'UTR	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	155						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGCCGCATGTCGTACAGCCGG	0.542000														35			10		0	0	0.002450	0	0
ESPNL	339768	broad.mit.edu	37	2	239009110	239009110	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:239009110C>T	uc002vxq.4	+	0	160	c.50C>T	c.(49-51)aCg>aTg	p.T17M		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	17										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GATGTGGCGACGTTGGAGCGG	0.711000														22			6		0	0	0.001984	0	0
ABP1	26	broad.mit.edu	37	7	150558086	150558086	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:150558086T>C	uc003why.1	+	5	6263	c.2045T>C	c.(2044-2046)aTt>aCt	p.I682T	ABP1_uc003whz.1_Missense_Mutation_p.I682T|ABP1_uc003wia.1_Missense_Mutation_p.I701T	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	682					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TCAGAGGACATTCCCAACACA	0.617000														52			6		0	0	0.001168	0	0
CRHBP	1393	broad.mit.edu	37	5	76259231	76259231	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:76259231G>A	uc003ker.3	+	5	1037	c.757G>A	c.(757-759)Gac>Aac	p.D253N		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	253					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AACTGGATTGGACCCTTCCAA	0.453000														386			68		0	0	0.014410	0	0
PRG3	10394	broad.mit.edu	37	11	57144328	57144328	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:57144328A>T	uc001njv.2	-	5	783	c.673T>A	c.(673-675)Ttc>Atc	p.F225I		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	225					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CTGGCTTAGAAGGAGCAGACG	0.602000														184			23		0	0	0.007291	0	0
OR8D1	283159	broad.mit.edu	37	11	124179850	124179850	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:124179850C>T	uc010sag.2	-	0	813	c.813G>A	c.(811-813)gaG>gaA	p.E271E		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGGACACCTTCTCCTGGTCCA	0.463000														27			9		0	0	0.010729	0	0
SEC31B	25956	broad.mit.edu	37	10	102249894	102249894	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:102249894C>T	uc001krc.1	-	20	2938	c.2836G>A	c.(2836-2838)Ggt>Agt	p.G946S	SEC31B_uc010qpo.1_Missense_Mutation_p.G945S|SEC31B_uc001krd.1_Missense_Mutation_p.G483S|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	946	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CGGCCGGGACCTAGTGGTCTC	0.627000														62			18		0	0	0.014323	0	0
NRXN3	9369	broad.mit.edu	37	14	79175877	79175877	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:79175877C>T	uc001xun.3	+	3	911	c.420C>T	c.(418-420)ctC>ctT	p.L140L	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.L274L	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	144	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAACTCCTCGATGGCAACC	0.502000														91			12		0	0	0.013537	0	0
PDE6C	5146	broad.mit.edu	37	10	95399917	95399917	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:95399917G>A	uc001kiu.4	+	11	1711	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	525					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GATTAAATGTGGAATACGACT	0.413000														44			6		0	0	0.001168	0	0
GPR37	2861	broad.mit.edu	37	7	124387044	124387044	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:124387044G>A	uc003vli.3	-	1	2028	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	459						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGAGCAGGTGATGGTGAAAA	0.473000														36			4		0	0	0.000602	0	0
SLX4	84464	broad.mit.edu	37	16	3633495	3633495	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:3633495G>A	uc002cvp.2	-	13	5383	c.4756C>T	c.(4756-4758)Ctg>Ttg	p.L1586L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1586	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGTTTAGGCAGAGGGCGGACT	0.557000								Direct reversal of damage						80			17		0	0	0.006122	0	0
C17orf74	201243	broad.mit.edu	37	17	7330090	7330090	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:7330090C>T	uc002ggw.3	+	2	853	c.780C>T	c.(778-780)cgC>cgT	p.R260R	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	260						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCTATGGGCGCCACGGTTCCC	0.652000														31			7		0	0	0.003080	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052277	55052277	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:55052277C>T	uc003dhf.3	+	34	2968	c.2920C>T	c.(2920-2922)Cca>Tca	p.P974S	CACNA2D3_uc003dhg.1_Missense_Mutation_p.P880S|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	974						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACTGAATATCCAGCATTCGT	0.473000														20			4		0	0	0.001168	0	0
BRCA1	672	broad.mit.edu	37	17	41223245	41223245	+	Silent	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:41223245A>G	uc002icq.3	-	14	4918	c.4686T>C	c.(4684-4686)ccT>ccC	p.P1562P	BRCA1_uc010whp.2_Silent_p.P411P|BRCA1_uc010whl.2_Silent_p.P458P|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Silent_p.P1491P|BRCA1_uc002icu.3_Silent_p.P458P|BRCA1_uc010cyx.3_Silent_p.P1515P|BRCA1_uc002ict.3_Silent_p.P1583P|BRCA1_uc010whn.2_Silent_p.P53P|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Silent_p.P291P|BRCA1_uc002idc.1_Silent_p.P458P|BRCA1_uc010whr.1_Silent_p.P412P	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1562					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTCCAGGTAAGGGGTTCCCT	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				103			18		0	0	0.007413	0	0
HEPHL1	341208	broad.mit.edu	37	11	93826788	93826788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:93826788G>A	uc001pep.2	+	12	2573	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	806	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACCACGAGAGGAGCACTTAGA	0.493000														68			15		0	0	0.003163	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946262	46946262	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:46946262G>A	uc010acl.3	-	2	954	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	KIAA0226L_uc001vbf.4_Missense_Mutation_p.P50S|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_5'UTR|KIAA0226L_uc001vbe.4_Missense_Mutation_p.P117S|KIAA0226L_uc001vbh.4_Missense_Mutation_p.P117S|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Missense_Mutation_p.P117S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	117	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GAGCCATGGGGAGAAGCGCTG	0.582000														69			9		0	0	0.004482	0	0
OR1A2	26189	broad.mit.edu	37	17	3101608	3101608	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:3101608A>T	uc002fvd.1	+	0	796	c.796A>T	c.(796-798)Agc>Tgc	p.S266C		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GACCAGTTACAGCCCCAAAGA	0.448000														126			11		0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237780661	237780661	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:237780661G>A	uc001hyl.1	+	37	5911	c.5791G>A	c.(5791-5793)Gat>Aat	p.D1931N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1931	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.F1930S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTCAGATGATTTTGTGGC	0.468000														38			8		0	0	0.003080	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715747	13715747	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:13715747C>T	uc001rbt.2	-	12	4604	c.4425G>A	c.(4423-4425)gaG>gaA	p.E1475E		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1475					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGAAAGTTTCTCATAAACAT	0.507000														127			15		0	0	0.004007	0	0
FGF23	8074	broad.mit.edu	37	12	4479895	4479895	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:4479895A>G	uc001qmq.1	-	2	516	c.370T>C	c.(370-372)Tac>Cac	p.Y124H		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	124					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGACGTCGTACCCGTTTTCC	0.597000														107			11		0	0	0.001855	0	0
ZNF318	24149	broad.mit.edu	37	6	43323410	43323411	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:43323410_43323411GG>AA	uc003oux.3	-	3	1739_1740	c.1661_1662CC>TT	c.(1660-1662)ccc>cTT	p.P554L	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	554					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGCTCCCAAGGGGCTTTGGTAC	0.480000														179			33		0	0	0.004672	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451457	22451457	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:22451457G>A	uc003zpp.1	+	1	1287	c.1062G>A	c.(1060-1062)ggG>ggA	p.G354G		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	354					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCTGCAAAGGGGATGTGGTCC	0.458000														29			6		0	0	0.001984	0	0
TLN2	83660	broad.mit.edu	37	15	63089460	63089460	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:63089460G>A	uc002alb.4	+	44	6093	c.6093G>A	c.(6091-6093)acG>acA	p.T2031T	TLN2_uc002alc.4_Silent_p.T424T	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2031					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TAGAAGACACGAAACTACTTG	0.592000														78			7		0	0	0.003080	0	0
SYT10	341359	broad.mit.edu	37	12	33579230	33579230	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:33579230C>T	uc001rll.1	-	1	649	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	118						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTTCATTTTCCTTAATTTCT	0.408000														91			14		0	0	0.003163	0	0
MAGI2	9863	broad.mit.edu	37	7	77755082	77755082	+	Missense_Mutation	SNP	C	T	T	rs139559003		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:77755082C>T	uc003ugx.3	-	19	3750	c.3496G>A	c.(3496-3498)Gaa>Aaa	p.E1166K	MAGI2_uc003ugy.3_Missense_Mutation_p.E1152K|MAGI2_uc010ldx.1_Missense_Mutation_p.E759K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1166	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding	p.E1166K(2)|p.R1165R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATTTTGTATTCCCTTCCTCCA	0.413000														53			13		0	0	0.001855	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22196440	22196440	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:22196440C>T	uc003svg.3	-	15	1478	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	RAPGEF5_uc011jyl.1_Missense_Mutation_p.E70K	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	239	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCCTCCGTTTCAGTCACAGTT	0.453000														61			7		0	0	0.004482	0	0
ANGPT4	51378	broad.mit.edu	37	20	896765	896765	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:896765C>T	uc002wei.3	-	0	196	c.93G>A	c.(91-93)agG>agA	p.R31R	ANGPT4_uc010zpn.2_Silent_p.R25R	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	31					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTCGCAGCCCCTATCCGCCT	0.607000														48			12		0	0	0.001855	0	0
ACSS1	84532	broad.mit.edu	37	20	24994654	24994654	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:24994654G>A	uc002wub.3	-	8	1475	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	ACSS1_uc002wuc.3_Silent_p.L463L|ACSS1_uc021wbm.1_Silent_p.L465L|ACSS1_uc010gdc.3_Silent_p.L260L|ACSS1_uc002wua.3_Silent_p.L382L|ACSS1_uc021wbl.1_Silent_p.L344L|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	465					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATGGCAGGGAGGATTTCCG	0.587000														17			4		0	0	0.000602	0	0
EPB49	2039	broad.mit.edu	37	8	21931340	21931340	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:21931340C>T	uc022asw.1	+	8	867	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	EPB49_uc022asq.1_Missense_Mutation_p.H277Y|EPB49_uc011kys.1_Missense_Mutation_p.H237Y|EPB49_uc022asr.1_Missense_Mutation_p.H277Y|EPB49_uc022ass.1_Missense_Mutation_p.H252Y|EPB49_uc022ast.1_Missense_Mutation_p.H277Y|EPB49_uc022asu.1_Missense_Mutation_p.H277Y|EPB49_uc022asv.1_Missense_Mutation_p.H277Y|EPB49_uc022asx.1_Missense_Mutation_p.H277Y|EPB49_uc022asy.1_Missense_Mutation_p.H252Y	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	277	Interaction with RASGRF2.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GACACCCTTCCATACCTGTGA	0.517000														49			6		0	0	0.001168	0	0
LCT	3938	broad.mit.edu	37	2	136566592	136566592	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:136566592C>T	uc002tuu.1	-	7	3336	c.3325G>A	c.(3325-3327)Gat>Aat	p.D1109N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1109	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TATTTCTCATCGTACGTGTGA	0.582000														74			8		0	0	0.003080	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585315	70585315	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:70585315G>A	uc003xyl.3	-	9	3043	c.2336C>T	c.(2335-2337)aCc>aTc	p.T779I	SLCO5A1_uc010lzb.3_Missense_Mutation_p.T724I|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	779						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTCACTCACGGTGCTCAGGGG	0.502000														87			11		0	0	0.013537	0	0
KCNH5	27133	broad.mit.edu	37	14	63175027	63175027	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:63175027C>T	uc001xfx.3	-	10	2217	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	722					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.Q722K(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTGTTGAGCCCTGATTCCGCA	0.572000														110			14		0	0	0.001855	0	0
FGFR2	2263	broad.mit.edu	37	10	123263433	123263433	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:123263433G>A	uc021pzz.1	-	9	1957	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	FGFR2_uc021pzv.1_Missense_Mutation_p.S325F|FGFR2_uc021pzw.1_Missense_Mutation_p.S322F|FGFR2_uc021pzx.1_Missense_Mutation_p.S348F|FGFR2_uc021pzy.1_Missense_Mutation_p.S438F|FGFR2_uc010qtl.2_Missense_Mutation_p.S321F|FGFR2_uc010qtm.2_Missense_Mutation_p.S320F|FGFR2_uc021qaa.1_Missense_Mutation_p.S438F|FGFR2_uc021qab.1_Missense_Mutation_p.S349F|FGFR2_uc021qac.1_Missense_Mutation_p.S366F|FGFR2_uc001lfg.4_Missense_Mutation_p.S45F	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	437					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGAGTTCATGGAGGAGCTGGA	0.552000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					24			6		0	0	0.001168	0	0
ROR2	4920	broad.mit.edu	37	9	94486934	94486934	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:94486934C>T	uc004arj.2	-	8	2041	c.1842G>A	c.(1840-1842)aaG>aaA	p.K614K	ROR2_uc004ari.1_Silent_p.K474K	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	614	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGCCAGGTCCTTGTGAACCA	0.597000														88			21		0	0	0.014323	0	0
DIO2	1734	broad.mit.edu	37	14	80669068	80669068	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:80669068G>A	uc021rxa.1	-	2	947	c.894C>T	c.(892-894)ttC>ttT	p.F298F	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Silent_p.F262F|DIO2_uc010asy.3_Silent_p.F262F	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	262					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATCTCTTGCTGAAATTCTTCT	0.383000														24			6		0	0	0.001984	0	0
PRTN3	5657	broad.mit.edu	37	19	843590	843590	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:843590G>A	uc002lqa.1	+	1	215	c.191G>A	c.(190-192)aGc>aAc	p.S64N	PRTN3_uc021umb.1_Missense_Mutation_p.S23N	NM_002777	NP_002768	P24158	PRTN3_HUMAN	Homo sapiens proteinase 3 (PRTN3), mRNA.	64	Peptidase S1.			S -> D (in Ref. 12; AA sequence).	collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCACCCCAGCTTCGTGCTG	0.731000														14			4		0	0	0.009096	0	0
MAPT	4137	broad.mit.edu	37	17	44060828	44060828	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:44060828G>A	uc002ijr.4	+	5	980	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	MAPT_uc010dau.3_Missense_Mutation_p.E220K|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Missense_Mutation_p.E68K	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	220					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GGAGGTGGATGAAGACCGCGA	0.677000														11			4		0	0	0.009096	0	0
SIK3	23387	broad.mit.edu	37	11	116729133	116729133	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:116729133G>A	uc001ppy.3	-	19	2766	c.2730C>T	c.(2728-2730)atC>atT	p.I910I	SIK3_uc001ppz.3_Silent_p.I749I|SIK3_uc001pqa.3_Silent_p.I850I|SIK3_uc001ppw.3_Silent_p.I267I|SIK3_uc001ppx.3_Silent_p.I288I|SIK3_uc001pqb.3_Silent_p.I213I	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	910	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GTCCTTGAAGGATGTGGGGTA	0.592000														685			122		0	0	0.014410	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233675	63233675	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:63233675C>T	uc001nwy.2	-	4	828	c.654G>A	c.(652-654)aaG>aaA	p.K218K	HRASLS5_uc001nwz.2_Silent_p.K208K|HRASLS5_uc010rmq.1_Silent_p.K218K|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	218										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTTGACCATCTTTTTTGTAC	0.527000														78			15		0	0	0.003163	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633880	70633880	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:70633880C>T	uc001xly.3	-	1	2014	c.1260G>A	c.(1258-1260)agG>agA	p.R420R	SLC8A3_uc001xlw.3_Silent_p.R420R|SLC8A3_uc001xlx.3_Silent_p.R420R|SLC8A3_uc001xlz.3_Silent_p.R420R|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	420	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCCCCCTTTCCTCACCACTG	0.512000														81			9		0	0	0.008291	0	0
LOC344967	344967	broad.mit.edu	37	4	40045554	40045554	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:40045554G>A	uc011byr.1	-	2	596	c.102C>T	c.(100-102)ttC>ttT	p.F34F						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		TGGGCCACAGGAAGTGGGTGC	0.612000														11			4		0	0	0.009096	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656149	167656149	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:167656149C>T	uc011cjq.1	-	9	1318	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	SPOCK3_uc021xuf.1_Missense_Mutation_p.E412K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E292K|SPOCK3_uc003iri.1_Missense_Mutation_p.E412K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E361K|SPOCK3_uc003irj.1_Missense_Mutation_p.E409K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E320K|SPOCK3_uc011cjp.2_Missense_Mutation_p.E369K|SPOCK3_uc011cju.1_Missense_Mutation_p.E316K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E314K	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	412	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		atttcatcttcatcattcata	0.353000														19			4		0	0	0.009096	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356328	40356328	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:40356328C>T	uc003gva.1	+	4	1247	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	411					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GGGTAAGAACCCTCAGGAGGC	0.498000														50			7		0	0	0.001984	0	0
CEP120	153241	broad.mit.edu	37	5	122734918	122734918	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:122734918C>T	uc003ktk.3	-	5	640	c.524G>A	c.(523-525)gGa>gAa	p.G175E	CEP120_uc010jcz.2_Missense_Mutation_p.G149E|CEP120_uc011cwq.2_5'UTR	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	175						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGGTAGCCTCCCTCTTCATT	0.453000														65			9		0	0	0.004482	0	0
CCDC54	84692	broad.mit.edu	37	3	107096457	107096457	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:107096457G>A	uc003dwi.1	+	0	270	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	8										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CACACCAAAAGGGTAAAAGCT	0.398000														72			11		0	0	0.001855	0	0
IMPAD1	54928	broad.mit.edu	37	8	57878841	57878841	+	Silent	SNP	G	A	A	rs141898546	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:57878841G>A	uc003xte.4	-	3	1003	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	239						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GAGACACAACGATCCTTGGGG	0.458000														73			21		0	0	0.010504	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188403	70188403	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:70188403C>T	uc002sfz.4	-	0	995	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	140					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CTGAGGGACTCTTTCAGGAAC	0.542000														33			8		0	0	0.004482	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111795743	111795743	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:111795743G>A	uc010hqb.2	+	13	1768	c.1598G>A	c.(1597-1599)tGg>tAg	p.W533*	TMPRSS7_uc011bhr.1_Nonsense_Mutation_p.W388*	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	659	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCCACACCATGGACTGCACAC	0.438000														140			27		0	0	0.004656	0	0
TYW1	55253	broad.mit.edu	37	7	66490002	66490002	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:66490002A>T	uc003tvn.3	+	6	1126	c.977A>T	c.(976-978)aAa>aTa	p.K326I	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	326					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CATGTGAAGAAAGAAAAGGTA	0.413000														81			13		0	0	0.003163	0	0
LIN28B	389421	broad.mit.edu	37	6	105474224	105474224	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:105474224G>A	uc003pqv.1	+	2	453	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	LIN28B_uc010kda.1_Missense_Mutation_p.E44K	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	84	CSD.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGAACCAGTGGAATTCACATT	0.418000														111			21		0	0	0.002780	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213745	42213745	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:42213745G>A	uc002orl.3	+	1	332	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	CEACAM5_uc010ehz.1_Missense_Mutation_p.E71K|CEACAM5_uc002orj.1_Missense_Mutation_p.E71K	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	71	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		p.G70A(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GTACAAAGGTGAAAGAGTGGA	0.478000														69			8		0	0	0.007413	0	0
C15orf2	23742	broad.mit.edu	37	15	24922007	24922007	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:24922007G>A	uc001ywo.3	+	0	1467	c.993G>A	c.(991-993)tcG>tcA	p.S331S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	331	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.S331L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGAAAATGTCGATTCCATTGC	0.587000														45			13		0	0	0.013537	0	0
IL23A	51561	broad.mit.edu	37	12	56733728	56733728	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:56733728C>T	uc001sla.3	+	4	575	c.409_splice	c.e4-1	p.P137_splice		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	137					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						TCCTTTCAGCCTGAGGGTCAC	0.572000														133			17		0	0	0.008871	0	0
COL14A1	7373	broad.mit.edu	37	8	121238994	121238994	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:121238994A>G	uc003yox.3	+	15	2258	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E	COL14A1_uc003yoy.3_Missense_Mutation_p.K343E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	665	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTATGGGGGGAAGACTGAGGA	0.433000														46			5		0	0	0.001168	0	0
C20orf112	140688	broad.mit.edu	37	20	31044018	31044018	+	Missense_Mutation	SNP	G	A	A	rs146253793	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:31044018G>A	uc002wxu.4	-	2	447	c.290C>T	c.(289-291)cCg>cTg	p.P97L		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	97										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TGCCGTGGCCGGCGGGAGCTT	0.682000														66			10		0	0	0.008291	0	0
BOLL	66037	broad.mit.edu	37	2	198593201	198593201	+	Missense_Mutation	SNP	C	T	T	rs151126588	by1000genomes	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:198593201C>T	uc002uuu.1	-	11	1389	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	BC021693_uc002uup.3_Intron|BOLL_uc002uur.2_3'UTR|BOLL_uc002uus.2_3'UTR|BOLL_uc002uut.2_3'UTR|BOLL_uc010zha.1_3'UTR	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	0					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CTAGCTGGTTCGTTGAAGCTG	0.418000														41			5		0	0	0.001984	0	0
GPR141	353345	broad.mit.edu	37	7	37780529	37780529	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:37780529G>A	uc003tfm.1	+	0	534	c.534G>A	c.(532-534)gtG>gtA	p.V178V	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	178						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACATATGTGAAAATCATCA	0.403000														51			8		0	0	0.003080	0	0
MTUS2	23281	broad.mit.edu	37	13	29600504	29600504	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:29600504G>A	uc001usl.4	+	0	1757	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	557						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGTTTTCAGGATGTTAGCGT	0.522000														96			14		0	0	0.003163	0	0
MLLT4	4301	broad.mit.edu	37	6	168265333	168265333	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:168265333G>A	uc021zik.1	+	1	401	c.82G>A	c.(82-84)Gat>Aat	p.D28N	MLLT4_uc003qwb.1_Missense_Mutation_p.D70N|MLLT4_uc003qwc.2_Missense_Mutation_p.D70N|MLLT4_uc021zij.1_Missense_Mutation_p.D70N|MLLT4_uc021zil.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	70					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CACCACTCAAGATGTAATCGA	0.438000			T	MLL	AL									237			46		0	0	0.011902	0	0
MUC17	140453	broad.mit.edu	37	7	100685591	100685591	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:100685591G>A	uc003uxp.1	+	2	10947	c.10894G>A	c.(10894-10896)Gaa>Aaa	p.E3632K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3632	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGTAAGCAC	0.488000														99			12		0	0	0.013537	0	0
C10orf120	399814	broad.mit.edu	37	10	124459184	124459184	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:124459184C>T	uc001lgn.3	-	0	155	c.123G>A	c.(121-123)caG>caA	p.Q41Q		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	41										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGGCTTGATCCTGAAAGGAAG	0.448000														43			6		0	0	0.001168	0	0
PCDH10	57575	broad.mit.edu	37	4	134072200	134072200	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:134072200G>A	uc003iha.3	+	0	1731	c.905G>A	c.(904-906)gGa>gAa	p.G302E	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.G302E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	302	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGCTTTTCGGACTCTCGCCG	0.632000														52			10		0	0	0.006214	0	0
OR2G2	81470	broad.mit.edu	37	1	247752184	247752184	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:247752184C>T	uc010pyy.2	+	0	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R175C(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGGGCATCGCCAAGTGGA	0.557000														81			15		0	0	0.003163	0	0
MAPK15	225689	broad.mit.edu	37	8	144803758	144803758	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:144803758C>T	uc003yzj.3	+	11	1285	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	415					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCAGAACTCCGCTCCCCTG	0.637000														58			15		0	0	0.004007	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958550	92958550	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:92958550C>T	uc001yak.3	+	15	1705	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	SLC24A4_uc001yai.3_Missense_Mutation_p.S497F|SLC24A4_uc010twm.2_Missense_Mutation_p.S542F|SLC24A4_uc010auj.3_Missense_Mutation_p.S433F|SLC24A4_uc010twn.2_Missense_Mutation_p.S317F|SLC24A4_uc001yan.3_Missense_Mutation_p.S255F	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	561						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.H560D(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTGGTCTATTCCGTGGTCCTG	0.512000														162			26		0	0	0.007291	0	0
abParts	0	broad.mit.edu	37	14	106714441	106714441	+	RNA	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:106714441C>T	uc021ser.1	-	1008		c.23383G>A								Parts of antibodies, mostly variable regions.																		GGAATCATCTCTTGAGATTGT	0.483000														29			7		0	0	0.003080	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802118	34802118	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:34802118G>A	uc002kzz.3	+	9	1684	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K	KIAA1328_uc002lab.3_3'UTR|KIAA1328_uc002lac.1_Silent_p.K413K	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	554										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CAACCCGGAAGAAGATGGGGA	0.453000														18			4		0	0	0.009096	0	0
USP1	7398	broad.mit.edu	37	1	62914219	62914219	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:62914219G>A	uc001daj.2	+	7	1832	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	USP1_uc001dak.2_Missense_Mutation_p.D502N|USP1_uc001dal.2_Missense_Mutation_p.D502N	NM_001017415	NP_003359	O94782	UBP1_HUMAN	Homo sapiens ubiquitin specific peptidase 1 (USP1), transcript variant 2, mRNA.	502					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGTAGGAGAAGATAAATATTT	0.348000														72			10		0	0	0.008291	0	0
PRSS54	221191	broad.mit.edu	37	16	58320099	58320099	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:58320099C>T	uc002enf.3	-	5	659	c.264_splice	c.e5-1	p.R88_splice	PRSS54_uc002eng.3_Splice_Site_p.R88_splice|PRSS54_uc010vie.2_Splice_Site	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	88	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAATGTCCTTCCTGGAGAGAG	0.443000														69			8		0	0	0.006214	0	0
OR8B8	26493	broad.mit.edu	37	11	124310895	124310895	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:124310895G>A	uc010sal.2	-	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28F(2)|p.F29V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTAGAAACAGGAAGAAGAGGG	0.507000														63			7		0	0	0.003080	0	0
MTA2	9219	broad.mit.edu	37	11	62365529	62365529	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:62365529A>G	uc001ntq.2	-	5	847	c.457T>C	c.(457-459)Tac>Cac	p.Y153H	MTA2_uc010rlx.1_5'UTR	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	153	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCAGCTTGGTATTTGCAACCA	0.478000														150			30		0	0	0.009535	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2570400	2570400	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:2570400G>C	uc002fuw.4	+	4	875	c.307G>C	c.(307-309)Gca>Cca	p.A103P	PAFAH1B1_uc010ckb.2_Non-coding_Transcript	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	103	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGAAAAATATGCATTGAGTGG	0.428000														47			7		0	0	0.001984	0	0
PRKAA2	5563	broad.mit.edu	37	1	57159464	57159464	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:57159464G>A	uc001cyk.4	+	4	573	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	168	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTCAGATGGTGAATTTCTGAG	0.318000														115			14		0	0	0.002450	0	0
ASTN2	23245	broad.mit.edu	37	9	119249696	119249696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:119249696G>A	uc004bjt.2	-	18	3387	c.3286C>T	c.(3286-3288)Cct>Tct	p.P1096S	ASTN2_uc022bml.1_Missense_Mutation_p.P792S|ASTN2_uc022bmm.1_Missense_Mutation_p.P796S|ASTN2_uc004bjp.2_Missense_Mutation_p.P248S|ASTN2_uc011lxr.2_Missense_Mutation_p.P199S|ASTN2_uc011lxs.2_Missense_Mutation_p.P199S|ASTN2_uc011lxt.2_Missense_Mutation_p.P199S|ASTN2_uc004bjq.2_Missense_Mutation_p.P199S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1147	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGACTTCAGGGACCTCTCCA	0.507000														72			7		0	0	0.003080	0	0
LCE1C	353133	broad.mit.edu	37	1	152777644	152777644	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:152777644C>T	uc021ozi.1	-	0	311	c.311G>A	c.(310-312)aGc>aAc	p.S104N	LCE1C_uc001fap.1_Missense_Mutation_p.S104N	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	104	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACAGCAGCTGGAGCCCCC	0.672000														55			8		0	0	0.003163	0	0
ABHD5	51099	broad.mit.edu	37	3	43753262	43753262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:43753262C>T	uc003cmx.3	+	3	678	c.568C>T	c.(568-570)Caa>Taa	p.Q190*		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	190					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		CCTTGCTGATCAAGACAGACC	0.458000														79			17		0	0	0.006122	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215068	140215068	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140215068C>T	uc003lhq.2	+	0	1100	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.T367I	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	382					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCAGGTACCGTCATCACA	0.512000														137			29		0	0	0.006320	0	0
ODZ3	55714	broad.mit.edu	37	4	183600827	183600827	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:183600827C>T	uc003ivd.1	+	6	1410	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	445					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTATGACTTCGTGGAGCTCC	0.532000														74			11		0	0	0.010729	0	0
DIS3L2	129563	broad.mit.edu	37	2	232952409	232952409	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:232952409C>T	uc010fxz.3	+	5	855	c.579C>T	c.(577-579)ctC>ctT	p.L193L	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	193							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTAAGAAACTCTCAGTTTGTG	0.403000														34			5		0	0	0.000602	0	0
GPR98	84059	broad.mit.edu	37	5	89925145	89925145	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:89925145G>A	uc003kju.3	+	8	1724	c.1628G>A	c.(1627-1629)aGa>aAa	p.R543K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	543					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTTTTACAAGACTAGGAGGG	0.408000														22			5		0	0	0.000602	0	0
PIM1	5292	broad.mit.edu	37	6	37140845	37140845	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:37140845C>T	uc003onk.3	+	4	1111	c.681C>T	c.(679-681)tcC>tcT	p.S227S	PIM1_uc011dtw.2_Missense_Mutation_p.P96L	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	318	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGTCTGGTCCCTGGGGATCC	0.542000			T	BCL6	NHL									55			19		0	0	0.008871	0	0
SPATC1	375686	broad.mit.edu	37	8	145096226	145096226	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:145096226G>A	uc011lkw.2	+	3	1502	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	SPATC1_uc011lkx.2_Intron	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	467										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGCGCGTACGGCTCTACGGC	0.637000														42			4		0	0	0.009096	0	0
UGGT1	56886	broad.mit.edu	37	2	128931494	128931494	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:128931494C>T	uc002tps.3	+	29	3612	c.3434C>T	c.(3433-3435)aCc>aTc	p.T1145I	UGGT1_uc002tpr.3_Missense_Mutation_p.T1121I	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1145					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTGTGGACACCATTGTTATG	0.428000														56			14		0	0	0.004990	0	0
OC90	729330	broad.mit.edu	37	8	133044207	133044207	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:133044207G>A	uc003ytg.2	-	10	952	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	OC90_uc011lix.1_Missense_Mutation_p.R318W	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	334					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCCGGGCACCGGGATGTCAGA	0.542000														81			11		0	0	0.010729	0	0
NLRP10	338322	broad.mit.edu	37	11	7981217	7981217	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:7981217C>T	uc001mfv.1	-	1	1959	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	648							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTGGTGTTTCCTCTGTCCCT	0.378000														38			8		0	0	0.004482	0	0
DNAH3	55567	broad.mit.edu	37	16	21031009	21031009	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:21031009C>T	uc010vbe.2	-	40	5959	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1987					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGTTATCATCCATGCCCATG	0.423000														46			7		0	0	0.003080	0	0
MICALCL	84953	broad.mit.edu	37	11	12315279	12315279	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:12315279G>A	uc001mkg.1	+	2	592	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	101	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCCTGGTGAAGATGGCCTCTC	0.597000														100			13		0	0	0.013537	0	0
SF3B4	10262	broad.mit.edu	37	1	149895472	149895472	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:149895472G>A	uc001etk.2	-	5	1730	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S		NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	413						U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCGAGGGGGAACTGGTGGC	0.582000														32			11		0	0	0.010729	0	0
OBSCN	84033	broad.mit.edu	37	1	228559615	228559615	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:228559615G>A	uc009xez.1	+	93	21180	c.21136G>A	c.(21136-21138)Ggc>Agc	p.G7046S	OBSCN_uc001hsr.1_Missense_Mutation_p.G1675S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7046	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCCAGGAGGGCTGCAGCCC	0.672000														21			5		0	0	0.000602	0	0
GJD2	57369	broad.mit.edu	37	15	35045113	35045113	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:35045113G>A	uc001zis.1	-	1	532	c.532C>T	c.(532-534)Cca>Tca	p.P178S	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	178					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.P178P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGACCTGATGGGTGTGGAGTC	0.483000														130			27		0	0	0.005443	0	0
RTN1	6252	broad.mit.edu	37	14	60194250	60194250	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:60194250G>A	uc001xen.1	-	2	1361	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	384					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCTTGACCTCGGGCCTGTCGG	0.652000														13			4		0	0	0.000602	0	0
MEF2D	4209	broad.mit.edu	37	1	156438006	156438006	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:156438006G>A	uc001fpc.3	-	10	1723	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S	MEF2D_uc001fpb.3_Missense_Mutation_p.P438S|MEF2D_uc001fpd.3_Missense_Mutation_p.P438S|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P445S	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	445					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCACGGCTTGGGGACACCGGT	0.692000														61			13		0	0	0.002450	0	0
COL6A6	131873	broad.mit.edu	37	3	130284112	130284112	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:130284112C>T	uc010htl.3	+	2	967	c.936C>T	c.(934-936)atC>atT	p.I312I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	312	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGCTGCCATCAAAAAGCTCA	0.498000														90			18		0	0	0.007413	0	0
SCN5A	6331	broad.mit.edu	37	3	38603945	38603945	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:38603945G>A	uc021wvo.1	-	20	3976	c.3924C>T	c.(3922-3924)ctC>ctT	p.L1308L	SCN5A_uc021wvk.1_Silent_p.L1307L|SCN5A_uc021wvl.1_Silent_p.L1254L|SCN5A_uc021wvm.1_Silent_p.L1308L|SCN5A_uc021wvn.1_Silent_p.L1307L|SCN5A_uc021wvp.1_Silent_p.L1308L|SCN5A_uc021wvq.1_Silent_p.L1307L|SCN5A_uc021wvr.1_Silent_p.L1308L|SCN5A_uc021wvs.1_Silent_p.L1308L|SCN5A_uc021wvt.1_Silent_p.L1307L|SCN5A_uc021wvu.1_Silent_p.L1254L|SCN5A_uc021wvv.1_Silent_p.L1308L|SCN5A_uc021wvj.1_Silent_p.L1120L|SCN5A_uc021wvi.1_Silent_p.L1174L|SCN5A_uc021wvw.1_Silent_p.L918L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1308			L -> F (associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCAGAGGACGGAGTGCACGCA	0.637000														17			4		0	0	0.009096	0	0
SHANK2	22941	broad.mit.edu	37	11	70348958	70348958	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:70348958G>A	uc001oqc.3	-	14	2060	c.1948C>T	c.(1948-1950)Ctt>Ttt	p.L650F	SHANK2_uc010rqn.2_Missense_Mutation_p.L126F|SHANK2_uc001opz.3_Missense_Mutation_p.L126F|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.L126F|SHANK2_uc001opy.3_5'Flank|SHANK2_uc010rqo.1_5'Flank	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	335					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.K650N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCACCTTAAGGACCAGGTGA	0.587000														104			17		0	0	0.007413	0	0
ASAP1	50807	broad.mit.edu	37	8	131138245	131138245	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:131138245A>T	uc003yta.2	-	16	1700	c.1472T>A	c.(1471-1473)aTt>aAt	p.I491N	ASAP1_uc003ysz.2_Missense_Mutation_p.I302N|ASAP1_uc011liw.2_Missense_Mutation_p.I484N	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	491	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAAAGACTGAATGCGAGAAAT	0.388000														48			18		0	0	0.008871	0	0
LAMA3	3909	broad.mit.edu	37	18	21533014	21533014	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:21533014G>A	uc002kuq.3	+	73	9883	c.9797G>A	c.(9796-9798)gGa>gAa	p.G3266E	LAMA3_uc002kur.3_Missense_Mutation_p.G3210E|LAMA3_uc002kus.4_Missense_Mutation_p.G1657E|LAMA3_uc002kut.4_Missense_Mutation_p.G1601E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3266	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACACAGCTGGACAGATCCCC	0.522000														73			15		0	0	0.004007	0	0
LOC81691	81691	broad.mit.edu	37	16	20855312	20855312	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:20855312C>T	uc002dhy.4	+	15	2058	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Silent_p.S561S|LOC81691_uc002dhx.3_Intron	NM_001199053	NP_001185982	Q96IC2	REXON_HUMAN	Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA.	561	RRM 1.					nucleolus	RNA binding|exonuclease activity|nucleotide binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1)	18						CCATAGAATCCTTGGATGGTA	0.473000														76			5		0	0	0.000602	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128403	20128403	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:20128403G>A	uc002zrr.2	+	6	869	c.762G>A	c.(760-762)gtG>gtA	p.V254V	ZDHHC8_uc002zrq.3_Silent_p.V254V|ZDHHC8_uc010gsa.3_Silent_p.V60V	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	254						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGTACGTGGTGGAGCCACCCC	0.627000														51			11		0	0	0.013537	0	0
SUPT6H	6830	broad.mit.edu	37	17	27022499	27022499	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:27022499G>A	uc010crt.3	+	29	4096	c.3904G>A	c.(3904-3906)Gac>Aac	p.D1302N	SUPT6H_uc002hby.3_Missense_Mutation_p.D1302N	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1302					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CACCTACTATGACTTTGATGC	0.542000														35			11		0	0	0.008291	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718278	103718278	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:103718278C>T	uc001vpy.4	-	0	919	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	108					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCAGTTCCTCCAGGGCAGCAT	0.507000														67			11		0	0	0.010729	0	0
C15orf2	23742	broad.mit.edu	37	15	24922217	24922217	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:24922217C>T	uc001ywo.3	+	0	1677	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	401	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCCTTCTTTCTCCCAACCTG	0.532000														38			14		0	0	0.003163	0	0
KRT3	3850	broad.mit.edu	37	12	53189324	53189324	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:53189324C>T	uc001say.3	-	0	569	c.503G>A	c.(502-504)gGg>gAg	p.G168E		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	168	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGAATTCCCCCAGGAAAGCC	0.607000														12			6		0	0	0.001168	0	0
YOD1	55432	broad.mit.edu	37	1	207222387	207222387	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:207222387T>C	uc001hfe.1	-	1	1072	c.1025A>G	c.(1024-1026)cAt>cGt	p.H342R	PFKFB2_uc010psc.2_Intron|YOD1_uc001hff.1_Missense_Mutation_p.H298R	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	Homo sapiens YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) (YOD1), mRNA.	342					ER-associated protein catabolic process|cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					AAAGTTGGTATGGCCTGTCTC	0.468000														174			19		0	0	0.014323	0	0
DSP	1832	broad.mit.edu	37	6	7571748	7571748	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:7571748T>C	uc003mxp.1	+	13	2113	c.1834T>C	c.(1834-1836)Ttc>Ctc	p.F612L	DSP_uc003mxq.1_Missense_Mutation_p.F612L|DSP_uc021yle.1_Missense_Mutation_p.F612L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	612	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAGTCTCAGTTCACCGATGC	0.488000														95			25		0	0	0.005443	0	0
GLYCTK	132158	broad.mit.edu	37	3	52325015	52325015	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:52325015C>T	uc003ddo.3	+	2	513	c.417C>T	c.(415-417)ttC>ttT	p.F139F	GLYCTK_uc003ddq.2_Silent_p.F139F|GLYCTK_uc003ddm.3_Non-coding_Transcript|GLYCTK_uc003ddn.3_Non-coding_Transcript|GLYCTK_uc003ddp.1_Silent_p.F139F|GLYCTK_uc003ddr.3_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	139					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TCCAGGTATTCGAGGGTGCGG	0.627000														55			9		0	0	0.008291	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994856	140994856	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:140994856G>A	uc004fbt.3	+	3	1990	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E215K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	556							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGGGGGAGGACTCCCT	0.572000										HNSCC(15;0.026)				138			42		0	0	0.008740	0	0
NPLOC4	55666	broad.mit.edu	37	17	79573813	79573813	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:79573813G>A	uc002kau.3	-	6	740	c.558C>T	c.(556-558)atC>atT	p.I186I	NPLOC4_uc002kat.4_Silent_p.I186I|NPLOC4_uc010wur.1_Silent_p.I25I	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	186					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTTGCAGCTGATGTTCTCCA	0.507000														21			4		0	0	0.009096	0	0
ACTR3B	57180	broad.mit.edu	37	7	152497740	152497740	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:152497740G>A	uc003wle.1	+	3	342	c.225_splice	c.e3+1	p.K75_splice	ACTR3B_uc003wlf.1_Splice_Site_p.K75_splice|ACTR3B_uc003wlg.1_Splice_Site|ACTR3B_uc011kvp.1_Intron	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	75					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ATGCTACAAAGGTAAATTTCC	0.403000														79			11		0	0	0.010729	0	0
OR6K3	391114	broad.mit.edu	37	1	158686961	158686961	+	Silent	SNP	A	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158686961A>C	uc021pbn.1	-	0	945	c.945T>G	c.(943-945)ggT>ggG	p.G315G		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A315A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CTCTGTATTAACCTCCAGGCT	0.408000														23			4		0	0	0.000602	0	0
PDIA4	9601	broad.mit.edu	37	7	148701084	148701084	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:148701084G>A	uc003wff.2	-	9	2022	c.1740C>T	c.(1738-1740)atC>atT	p.I580I		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	580	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.V579F(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCATCTTGGCGATGACCAGGC	0.597000														65			11		0	0	0.010729	0	0
PITPNM1	9600	broad.mit.edu	37	11	67264878	67264878	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:67264878G>A	uc001olx.3	-	12	2159	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	PITPNM1_uc001olw.3_5'UTR|PITPNM1_uc001oly.3_Missense_Mutation_p.S657F|PITPNM1_uc001olz.3_Missense_Mutation_p.S657F	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	657					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGCTCCCAGGAGGAGGTGGT	0.682000														56			8		0	0	0.003080	0	0
DNAH11	8701	broad.mit.edu	37	7	21723549	21723549	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:21723549C>T	uc003svc.3	+	32	5660	c.5629C>T	c.(5629-5631)Cct>Tct	p.P1877S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1877	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTGATCACTCCTCTAACTGA	0.413000									Kartagener syndrome					61			9		0	0	0.006214	0	0
C3orf15	89876	broad.mit.edu	37	3	119462963	119462963	+	Missense_Mutation	SNP	C	T	T	rs139653997		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:119462963C>T	uc003ede.4	+	13	1899	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	C3orf15_uc010hqz.3_Missense_Mutation_p.R546W|C3orf15_uc011bjd.2_Missense_Mutation_p.R482W|C3orf15_uc011bje.2_Missense_Mutation_p.R588W	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	444						mitochondrion	protein binding	p.R608W(2)|p.R607G(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GCGCCAGCGGCGGGTACGAGA	0.587000														94			8		0	0	0.004482	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717007	13717007	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:13717007C>G	uc001rbt.2	-	12	3344	c.3165G>C	c.(3163-3165)ttG>ttC	p.L1055F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1055					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGAGCGGATCAAGTCGTCGT	0.577000														43			6		0	0	0.004482	0	0
C17orf74	201243	broad.mit.edu	37	17	7329683	7329683	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:7329683C>T	uc002ggw.3	+	2	446	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	125	Arg-rich.					integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TCGCTGTGTTcgtcgccgccg	0.607000														109			21		0	0	0.010504	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676166	54676166	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:54676166G>A	uc003dhf.3	+	10	1113	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.T261T|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.T89T|ESRG_uc003dhj.3_5'Flank	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	355	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T355K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCAACCACACGGGACAAGGAA	0.413000														17			5		0	0	0.001168	0	0
FLJ43860	389690	broad.mit.edu	37	8	142481272	142481272	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:142481272C>T	uc003ywi.2	-	15	1970	c.1889G>A	c.(1888-1890)aGg>aAg	p.R630K	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	630							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTGCCCAATCCTTTTGAAGTC	0.577000														50			17		0	0	0.006122	0	0
OR5B12	390191	broad.mit.edu	37	11	58207275	58207275	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:58207275G>A	uc010rkh.2	-	0	372	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCGGTCATAGGCCATTGATGC	0.443000														66			19		0	0	0.007413	0	0
BIRC6	57448	broad.mit.edu	37	2	32832604	32832604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:32832604C>T	uc010ezu.3	+	71	14287	c.14153C>T	c.(14152-14154)cCc>cTc	p.P4718L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4718					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAGGCACTCCCAGTGGCACA	0.418000														120			15		0	0	0.002450	0	0
FGA	2243	broad.mit.edu	37	4	155506702	155506702	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:155506702G>A	uc003iod.1	-	4	1937	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	FGA_uc003ioe.1_Missense_Mutation_p.R627C|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	627	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R627C(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ctgaCAGGGCGAGATTTAGCA	0.493000														42			7		0	0	0.003080	0	0
PGBD4	161779	broad.mit.edu	37	15	34395929	34395929	+	Silent	SNP	C	T	T	rs150359363	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:34395929C>T	uc001zho.3	+	0	1656	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	399										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TGTCAACATTCCACAATGATA	0.413000														60			9		0	0	0.004482	0	0
SCLY	51540	broad.mit.edu	37	2	238976788	238976788	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:238976788C>T	uc010fyv.3	+	2	416	c.285C>T	c.(283-285)ttC>ttT	p.F95F	SCLY_uc002vxm.4_Silent_p.F62F|SCLY_uc010znr.2_Intron|SCLY_uc010znq.2_Silent_p.F95F	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	95					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATATAATCTTCACTTCCGGGG	0.413000														47			10		0	0	0.010729	0	0
NAGA	4668	broad.mit.edu	37	22	42463188	42463188	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:42463188G>A	uc003bbw.4	-	3	976	c.431C>T	c.(430-432)aCc>aTc	p.T144I		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	144					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CTCGGCGAAGGTCTGAGCATC	0.612000														150			27		0	0	0.006320	0	0
SLC35F5	80255	broad.mit.edu	37	2	114501363	114501364	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:114501363_114501364AG>GA	uc002tku.1	-	5	902_903	c.488_489CT>TC	c.(487-489)cct>cTC	p.P163L	SLC35F5_uc002tkt.3_Non-coding_Transcript|SLC35F5_uc002tkv.3_Missense_Mutation_p.P157L	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	163					transport	integral to membrane		p.E162K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GCACATACAGAGGTTCACTCTG	0.322000														119			21		0	0	0.004672	0	0
MPP6	51678	broad.mit.edu	37	7	24708173	24708173	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:24708173C>G	uc003swx.3	+	9	1307	c.1008C>G	c.(1006-1008)ttC>ttG	p.F336L	MPP6_uc003swy.3_Missense_Mutation_p.F336L	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	336					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGCCTCCCTTCCAGAGAAAAA	0.373000														30			7		0	0	0.003080	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074923	34074923	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:34074923C>T	uc002hjv.2	-	3	805	c.777G>A	c.(775-777)tgG>tgA	p.W259*		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	259	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGTGTGTCCCAGCCGCCCC	0.632000											OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			5		0	0	0.001168	0	0
MKX	283078	broad.mit.edu	37	10	28023391	28023391	+	Missense_Mutation	SNP	G	A	A	rs138096382		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:28023391G>A	uc001ity.4	-	4	1057	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	MKX_uc001itx.4_Missense_Mutation_p.R278C	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	278					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y277F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTACCTGTGCGATAGACAAAG	0.393000														59			6		0	0	0.001984	0	0
CD1C	911	broad.mit.edu	37	1	158262541	158262541	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158262541C>T	uc001fru.3	+	3	1058	c.766C>T	c.(766-768)Cct>Tct	p.P256S	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	256	Ig-like.				T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGATATTCTTCCTAATGCTGA	0.527000														101			12		0	0	0.013537	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41058176	41058176	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:41058176G>A	uc003jmj.4	-	6	1235	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.H249Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	249							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGAGTGACATGGAAATCAATC	0.522000														38			13		0	0	0.004990	0	0
TBR1	10716	broad.mit.edu	37	2	162273044	162273044	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:162273044G>A	uc002ubw.1	+	0	425	c.123G>A	c.(121-123)tcG>tcA	p.S41S	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	41						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCATTATCTCGACCACTGACA	0.463000														46			8		0	0	0.004482	0	0
OR6K2	81448	broad.mit.edu	37	1	158670427	158670427	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158670427G>A	uc001fsu.1	-	0	16	c.16C>T	c.(16-18)Cga>Tga	p.R6*		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	6			R -> Q (in dbSNP:rs413029).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N5K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGGTGGTTCGATTGGGGCTC	0.428000														63			6		0	0	0.001984	0	0
AC2	0	broad.mit.edu	37	1	151991192	151991192	+	RNA	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:151991192G>A	uc001ezm.1	+	7		c.2256G>A								Homo sapiens AC2 pseudogene, precursor RNA sequence.																		ATGAACACTGGAGAAATCAAC	0.493000														71			7		0	0	0.004482	0	0
STAG2	10735	broad.mit.edu	37	X	123190022	123190022	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:123190022A>T	uc004eua.3	+	13	1645	c.1241A>T	c.(1240-1242)tAt>tTt	p.Y414F	STAG2_uc004etz.4_Missense_Mutation_p.Y414F|STAG2_uc004eub.3_Missense_Mutation_p.Y414F|STAG2_uc004euc.3_Missense_Mutation_p.Y414F|STAG2_uc004eud.3_Missense_Mutation_p.Y414F|STAG2_uc004eue.3_Missense_Mutation_p.Y414F	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	414					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAAAATGTCTATCATCTGGTT	0.363000														51			19		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9061857	9061857	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:9061857C>T	uc002mkp.3	-	2	25793	c.25589G>A	c.(25588-25590)gGa>gAa	p.G8530E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8532	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTGAAAATCCTGGAGATGC	0.522000														54			7		0	0	0.003080	0	0
VWA3B	200403	broad.mit.edu	37	2	98846622	98846622	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:98846622T>G	uc002syo.3	+	15	2524	c.2260T>G	c.(2260-2262)Tgg>Ggg	p.W754G	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.W273G|VWA3B_uc002sym.3_Missense_Mutation_p.W754G|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.W411G|VWA3B_uc002syp.1_Missense_Mutation_p.W146G|VWA3B_uc002syq.1_Missense_Mutation_p.W30G|VWA3B_uc002syr.1_Missense_Mutation_p.W71G	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	754								p.W754S(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAGGGACCATGGGGCCTTTC	0.418000														63			9		0	0	0.006214	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954429	79954429	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:79954429C>T	uc002kcy.3	+	6	737	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	ASPSCR1_uc002kcx.3_Missense_Mutation_p.R214C|ASPSCR1_uc021ufj.1_Missense_Mutation_p.R137C|ASPSCR1_uc002kda.3_Missense_Mutation_p.R137C|ASPSCR1_uc002kdb.1_Missense_Mutation_p.R137C	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	214							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGACTTGAGCCGTCCGGAGGA	0.682000			T	TFE3	alveolar soft part sarcoma									27			5		0	0	0.000602	0	0
PRG4	10216	broad.mit.edu	37	1	186276833	186276833	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:186276833C>T	uc001gru.4	+	6	2033	c.1982C>T	c.(1981-1983)cCt>cTt	p.P661L	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P620L|PRG4_uc009wyl.3_Missense_Mutation_p.P568L|PRG4_uc009wym.3_Missense_Mutation_p.P527L|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	661	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCACCACCCCTGAGGAGCCT	0.667000														31			10		0	0	0.006214	0	0
MBD5	55777	broad.mit.edu	37	2	149227488	149227488	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:149227488G>A	uc002twm.4	+	8	2973	c.1976G>A	c.(1975-1977)aGa>aAa	p.R659K	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.R100K	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	659						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGCGGAAAAGAAAACAACCA	0.478000														27			5		0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240370979	240370979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:240370979C>T	uc010pye.2	+	5	3104	c.2879C>T	c.(2878-2880)cCg>cTg	p.P960L	FMN2_uc010pyd.2_Missense_Mutation_p.P956L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	956	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1099L(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCTCTT	0.697000														21			4		0	0	0.000602	0	0
TLL1	7092	broad.mit.edu	37	4	166929121	166929121	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:166929121G>A	uc003irh.2	+	6	1485	c.838G>A	c.(838-840)Gag>Aag	p.E280K	TLL1_uc021xud.1_Missense_Mutation_p.E280K|TLL1_uc011cjn.2_Missense_Mutation_p.E280K|TLL1_uc011cjo.2_Missense_Mutation_p.E104K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	280	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGAAGATGGAGCCTGGAGA	0.413000														13			3		0	0	0.004672	0	0
PSG9	5678	broad.mit.edu	37	19	43762547	43762547	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:43762547G>A	uc002owd.4	-	4	1149	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	PSG9_uc002owe.4_Silent_p.L257L|PSG9_uc010xwm.2_Silent_p.L257L|PSG9_uc002owf.4_Silent_p.L164L|PSG9_uc002owg.2_Silent_p.L257L	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	350	Ig-like C2-type 3.				female pregnancy	extracellular region		p.L350P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGACAAGTCGAGGTTTTCTC	0.453000														216			31		0	0	0.009535	0	0
ZNF746	155061	broad.mit.edu	37	7	149174082	149174082	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:149174082G>A	uc010lpi.2	-	5	1040	c.769C>T	c.(769-771)Cct>Tct	p.P257S	ZNF746_uc003wfw.2_Missense_Mutation_p.P257S	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	257					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.L256L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGTGGGGAGGGAGATCCGTT	0.627000														56			6		0	0	0.001168	0	0
KCNA10	3744	broad.mit.edu	37	1	111060492	111060492	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:111060492G>A	uc001dzt.1	-	0	1306	c.918C>T	c.(916-918)atC>atT	p.I306I		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	306						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGATGTCAATGATGTTCATGA	0.527000														77			14		0	0	0.003163	0	0
COL4A4	1286	broad.mit.edu	37	2	227945167	227945167	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:227945167C>T	uc021vxr.1	-	22	1896	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	COL4A4_uc021vxs.1_Missense_Mutation_p.G599R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	599	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACTGGAGGTCCTGGATCCCCT	0.463000														111			24		0	0	0.003954	0	0
NIM1	167359	broad.mit.edu	37	5	43280111	43280111	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:43280111G>A	uc003jno.3	+	3	1472	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	197	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										ATAGAGATCTGAAAGCAGAAA	0.333000														47			11		0	0	0.010729	0	0
PADI3	51702	broad.mit.edu	37	1	17606925	17606925	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:17606925G>A	uc001bai.3	+	14	1675	c.1635_splice	c.e14+1	p.Q545_splice		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	545					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTTTGTGCAGGTACAAGGGCT	0.493000														42			8		0	0	0.003080	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360879	47360879	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:47360879T>G	uc021qis.1	-	21	2199	c.2144A>C	c.(2143-2145)aAg>aCg	p.K715T	MYBPC3_uc021qir.1_Missense_Mutation_p.K367T|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	714	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACTCACCTTCTTGTCAAACAC	0.592000														161			16		0	0	0.007413	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278772	130278772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:130278772C>T	uc001qgg.4	-	6	2172	c.1814G>A	c.(1813-1815)gGg>gAg	p.G605E	ADAMTS8_uc001qgf.3_Missense_Mutation_p.G86E	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	605	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.G634E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAGGAGATTCCCGTCCATGTC	0.557000														92			15		0	0	0.003163	0	0
TACR3	6870	broad.mit.edu	37	4	104510988	104510988	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:104510988C>T	uc003hxe.1	-	4	1390	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	417						integral to plasma membrane	tachykinin receptor activity	p.D417N(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GTGTCTGCATCGTTGGGGTCA	0.527000														56			9		0	0	0.010729	0	0
C2orf71	388939	broad.mit.edu	37	2	29296579	29296579	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:29296579G>A	uc002rmt.2	-	0	549	c.549C>T	c.(547-549)gcC>gcT	p.A183A		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	183					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTGCTGGTGGGCCTTTACCA	0.552000														82			16		0	0	0.003163	0	0
ASIC2	40	broad.mit.edu	37	17	31439043	31439043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:31439043C>T	uc002hht.3	-	1	1624	c.751G>A	c.(751-753)Gag>Aag	p.E251K	ASIC2_uc002hhu.3_Missense_Mutation_p.E200K	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	200					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TTGCCATCCTCGCCTGAGTTA	0.532000														38			6		0	0	0.001168	0	0
SLC4A4	8671	broad.mit.edu	37	4	72412140	72412140	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:72412140C>T	uc010iic.3	+	18	2633	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	SLC4A4_uc003hfy.3_Missense_Mutation_p.P839L|SLC4A4_uc010iib.3_Intron|SLC4A4_uc003hfz.3_Missense_Mutation_p.P839L|SLC4A4_uc003hgc.4_Missense_Mutation_p.P795L|SLC4A4_uc010iid.3_Missense_Mutation_p.P43L	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	839						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATGGCTCTTCCGTGGTATGTA	0.463000														9			3		0	0	0.009096	0	0
C20orf151	140893	broad.mit.edu	37	20	60990901	60990901	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:60990901G>A	uc002ycw.2	-	6	684	c.487C>T	c.(487-489)Ccg>Tcg	p.P163S		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	163										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			TGGCCTCCCGGTGGCTTCTCT	0.716000														25			8		0	0	0.004482	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754309	140754309	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140754309C>T	uc003ljy.2	+	0	659	c.659C>T	c.(658-660)cCt>cTt	p.P220L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P220L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	220	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGACCCTGTCCGCTCA	0.557000														13			3		0	0	0.004672	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004550	75004550	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:75004550C>T	uc004ecj.2	-	0	530	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	113	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCAGCATCTCGGACTGCTGG	0.532000														15			10		0	0	0.006214	0	0
CD93	22918	broad.mit.edu	37	20	23065859	23065859	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:23065859T>A	uc002wsv.3	-	0	1119	c.971A>T	c.(970-972)aAa>aTa	p.K324I		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	324	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGTGTAGTTTTTCCCATGGGG	0.637000														51			5		0	0	0.000602	0	0
DZIP1	22873	broad.mit.edu	37	13	96237103	96237103	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:96237103C>T	uc001vmk.3	-	21	3263	c.2411G>A	c.(2410-2412)gGa>gAa	p.G804E	DZIP1_uc001vmj.3_Missense_Mutation_p.G280E|DZIP1_uc001vml.3_Missense_Mutation_p.G785E|DZIP1_uc001vmm.3_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	804					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)			AGATTTTTTTCCCAAAGATAT	0.428000														66			16		0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13830199	13830199	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:13830199G>A	uc003jfd.2	-	36	6227	c.6185C>T	c.(6184-6186)tCt>tTt	p.S2062F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2062	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGATAAAAGACTTTTTGTG	0.383000									Kartagener syndrome					38			6		0	0	0.003080	0	0
OR4A15	81328	broad.mit.edu	37	11	55135906	55135906	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:55135906C>T	uc010rif.2	+	0	547	c.547C>T	c.(547-549)Cac>Tac	p.H183Y		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGGCTTTCTTCACTCATTGGT	0.428000														41			9		0	0	0.006214	0	0
SIM1	6492	broad.mit.edu	37	6	100895167	100895167	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:100895167G>A	uc003pqj.4	-	7	1442	c.975C>T	c.(973-975)atC>atT	p.I325I	SIM1_uc021zdg.1_Silent_p.I325I|SIM1_uc010kcu.3_Silent_p.I325I	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	325	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGACGCTGACGATACAGTGTG	0.622000														41			5		0	0	0.000602	0	0
ZNF80	7634	broad.mit.edu	37	3	113955853	113955853	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:113955853G>A	uc010hqo.3	-	0	573	c.69C>T	c.(67-69)gtC>gtT	p.V23V	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTCCTGTGGAGACCTGCTCCT	0.532000														89			20		0	0	0.014323	0	0
KLK8	11202	broad.mit.edu	37	19	51504413	51504413	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:51504413G>A	uc002puq.1	-	1	197	c.11C>T	c.(10-12)cCc>cTc	p.P4L	KLK9_uc002puw.1_Non-coding_Transcript|KLK8_uc002pur.1_Missense_Mutation_p.P4L|KLK8_uc002pus.1_Missense_Mutation_p.P4L|KLK8_uc002put.1_Missense_Mutation_p.P4L|KLK8_uc002puu.1_Missense_Mutation_p.P4L|KLK8_uc002puv.1_Non-coding_Transcript	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	4					cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACGAGGTCGGGGGCGTCCCAT	0.657000														33			4		0	0	0.009096	0	0
COLEC12	81035	broad.mit.edu	37	18	334970	334970	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:334970C>T	uc002kkm.3	-	5	1803	c.1588G>A	c.(1588-1590)Ggc>Agc	p.G530S		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	530	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTGGTGGGCCCGGGGGGCCT	0.716000														14			3		0	0	0.004672	0	0
SVOPL	136306	broad.mit.edu	37	7	138313025	138313025	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:138313025G>A	uc011kqh.2	-	9	947	c.947C>T	c.(946-948)tCa>tTa	p.S316L	SVOPL_uc003vue.3_Missense_Mutation_p.S164L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	316						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CGCAGAGTCTGACTTTGAACC	0.557000														75			18		0	0	0.006122	0	0
SSPO	23145	broad.mit.edu	37	7	149509388	149509388	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:149509388C>T	uc010lpk.3	+	68	9777	c.9777C>T	c.(9775-9777)tcC>tcT	p.S3259S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3262	TSP type-1 12.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCCTGGTCCCACTGTAGCC	0.716000														22			7		0	0	0.006214	0	0
RXFP3	51289	broad.mit.edu	37	5	33937426	33937426	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:33937426G>A	uc003jic.2	+	0	936	c.581G>A	c.(580-582)cGa>cAa	p.R194Q		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	194						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CACCGGACCCGAGGACACGGC	0.657000														50			8		0	0	0.004482	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590309	140590309	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140590309G>A	uc003liz.3	+	0	2019	c.1830G>A	c.(1828-1830)acG>acA	p.T610T	PCDHB12_uc011dak.2_Silent_p.T273T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	610	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGGCCACGGAGCCCGGGC	0.711000														162			11		0	0	0.013537	0	0
SRCAP	10847	broad.mit.edu	37	16	30724011	30724011	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:30724011C>T	uc002dze.1	+	13	2390	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	SRCAP_uc021tgn.1_Missense_Mutation_p.P669S|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P526S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	669	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TAACTGGGGTCCCCATTTAAT	0.458000														80			14		0	0	0.004007	0	0
OR1J4	26219	broad.mit.edu	37	9	125282200	125282200	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:125282200C>T	uc011lyw.2	+	0	781	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ACTGTATTTTCTCCCCTCATC	0.473000														53			5		0	0	0.000602	0	0
MSLN	10232	broad.mit.edu	37	16	815237	815237	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:815237G>A	uc002cjw.2	+	7	749	c.638G>A	c.(637-639)gGa>gAa	p.G213E	MSLN_uc002cju.1_Missense_Mutation_p.G213E|MSLN_uc002cjt.1_Missense_Mutation_p.G213E|MSLN_uc010brd.1_Missense_Mutation_p.G212E|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	213					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane		p.P212P(1)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				AGCTGCCCGGGACCCCTGGAC	0.697000														13			5		0	0	0.001168	0	0
DRAM2	128338	broad.mit.edu	37	1	111667496	111667496	+	Silent	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:111667496A>G	uc001ead.4	-	4	464	c.207T>C	c.(205-207)gcT>gcC	p.A69A	DRAM2_uc001eae.4_Silent_p.A69A|DRAM2_uc009wfy.3_Non-coding_Transcript	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 2 (DRAM2), mRNA.	69					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						CATAAATGGTAGCAATGCCTG	0.358000														16			4		0	0	0.000602	0	0
OR51F1	256892	broad.mit.edu	37	11	4790962	4790962	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:4790962A>T	uc010qyl.2	-	0	186	c.186T>A	c.(184-186)taT>taA	p.Y62*		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	62						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGAGGAAATAATACATGGGTT	0.448000														24			7		0	0	0.003080	0	0
RYR1	6261	broad.mit.edu	37	19	38948139	38948139	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:38948139C>T	uc002oit.3	+	16	1924	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	RYR1_uc002oiu.3_Silent_p.V598V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	598	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCTCTAGGTCCTGGACGTGC	0.552000														178			41		0	0	0.014410	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516461	118516461	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:118516461G>A	uc001ptr.2	+	17	3778	c.3425G>A	c.(3424-3426)gGt>gAt	p.G1142D	PHLDB1_uc001pts.3_Missense_Mutation_p.G1142D|PHLDB1_uc001ptt.3_Missense_Mutation_p.G1095D|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.G957D|PHLDB1_uc001ptw.2_Missense_Mutation_p.G497D|PHLDB1_uc009zai.2_Missense_Mutation_p.G178D|PHLDB1_uc001ptx.2_Missense_Mutation_p.G178D|PHLDB1_uc010ryi.1_3'UTR	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1142										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCGCGAGTGGTCTGGACATG	0.602000														105			9		0	0	0.008291	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751676	19751676	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:19751676G>A	uc009zzj.3	-	3	552	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	149					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCAGAGATGCGAACCCAGAGC	0.567000														71			11		0	0	0.008291	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552966	140552966	+	Missense_Mutation	SNP	G	A	A	rs146757937		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140552966G>A	uc003lit.3	+	0	724	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGTCCATGATAGCGGGGA	0.478000														46			9		0	0	0.004482	0	0
BFSP1	631	broad.mit.edu	37	20	17474832	17474832	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:17474832C>T	uc002wpo.3	-	7	1924	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	BFSP1_uc002wpp.3_Missense_Mutation_p.E504K|BFSP1_uc010zrn.2_Missense_Mutation_p.E490K|BFSP1_uc010zro.2_Missense_Mutation_p.E490K	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	629	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GAAATCTTCTCGATAGATTCC	0.488000														158			46		0	0	0.009718	0	0
OR10A7	121364	broad.mit.edu	37	12	55615172	55615172	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:55615172C>T	uc010spf.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGCTTATGATCGCTTTGTGGC	0.448000														24			4		0	0	0.009096	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299167	125299167	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:125299167C>T	uc004euk.2	-	0	914	c.741G>A	c.(739-741)ccG>ccA	p.P247P		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	247										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCACATCCCTCGGACGGATGT	0.637000														20			11		0	0	0.008291	0	0
PTPRT	11122	broad.mit.edu	37	20	40727098	40727098	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:40727098G>A	uc002xkg.3	-	26	3993	c.3809C>T	c.(3808-3810)tCc>tTc	p.S1270F	PTPRT_uc010ggj.3_Missense_Mutation_p.S1289F|PTPRT_uc010ggi.3_Missense_Mutation_p.S473F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1270	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCACAGAGGAGCAGTTGTA	0.597000														93			13		0	0	0.001855	0	0
FCGBP	8857	broad.mit.edu	37	19	40366477	40366477	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:40366477C>T	uc002omp.4	-	29	13765	c.13757G>A	c.(13756-13758)gGg>gAg	p.G4586E		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4586	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGCGAGAGCCCTGAGGTTGT	0.667000														66			15		0	0	0.003163	0	0
DGKG	1608	broad.mit.edu	37	3	185993421	185993421	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:185993421G>A	uc003fqa.3	-	9	1362	c.825C>T	c.(823-825)acC>acT	p.T275T	DGKG_uc003fqb.3_Silent_p.T275T|DGKG_uc003fqc.3_Silent_p.T275T|DGKG_uc011brx.2_Silent_p.T275T	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	275					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGTGCTTCATGGTCCAGGCGT	0.577000														48			7		0	0	0.004482	0	0
NFATC2	4773	broad.mit.edu	37	20	50133368	50133368	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:50133368G>A	uc002xwd.3	-	2	1507	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	NFATC2_uc002xwc.3_Silent_p.S429S|NFATC2_uc010zyv.2_Silent_p.S210S|NFATC2_uc010zyw.2_Silent_p.S210S|NFATC2_uc002xwe.3_Silent_p.S409S|NFATC2_uc010zyx.2_Silent_p.S409S|NFATC2_uc010zyy.2_Silent_p.S210S|NFATC2_uc010zyz.2_Silent_p.S210S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	429	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CAGCCCCTCGGCTGCCTTCTG	0.557000														59			9		0	0	0.006214	0	0
MFSD9	84804	broad.mit.edu	37	2	103335119	103335119	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:103335119G>A	uc002tcb.2	-	5	1253	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Silent_p.I334I	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	395					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGAGGTCCGTGATGCACGTCC	0.647000														45			9		0	0	0.004482	0	0
ZNF208	7757	broad.mit.edu	37	19	22155111	22155111	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:22155111C>T	uc021urr.1	-	3	2874	c.2725G>A	c.(2725-2727)Gta>Ata	p.V909I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTATGAATTACCTCATGTTTA	0.373000														14			4		0	0	0.001168	0	0
FGF12	2257	broad.mit.edu	37	3	191888273	191888273	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:191888273G>A	uc003fsx.3	-	3	1413	c.587C>T	c.(586-588)tCa>tTa	p.S196L	FGF12_uc003fsy.3_Missense_Mutation_p.S134L	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	196					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TACAAAATGTGATGAGGGCTT	0.438000														107			12		0	0	0.010729	0	0
KCNU1	157855	broad.mit.edu	37	8	36793060	36793060	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:36793060G>A	uc010lvw.3	+	26	3159	c.3072G>A	c.(3070-3072)gaG>gaA	p.E1024E		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	1024						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAGCCAATGAGTTCAAGCTGC	0.448000														42			5		0	0	0.001168	0	0
PRDM9	56979	broad.mit.edu	37	5	23527651	23527651	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:23527651C>T	uc003jgo.3	+	10	2636	c.2454C>T	c.(2452-2454)caC>caT	p.H818H		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	818					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATAAGTCACACCTCCTCAGAC	0.552000										HNSCC(3;0.000094)				91			8		0	0	0.001855	0	0
TRPM8	79054	broad.mit.edu	37	2	234894442	234894442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:234894442C>T	uc002vvh.3	+	20	2912	c.2872C>T	c.(2872-2874)Ccc>Tcc	p.P958S	TRPM8_uc010fyj.3_Missense_Mutation_p.P536S|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	958						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GATCACCATCCCCCTGGTGTG	0.542000														48			7		0	0	0.001984	0	0
OR51V1	283111	broad.mit.edu	37	11	5221247	5221247	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:5221247G>A	uc010qyz.2	-	0	684	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGAATCAGGATGTAGGAGA	0.438000														51			10		0	0	0.006214	0	0
CNDP2	55748	broad.mit.edu	37	18	72180828	72180828	+	Silent	SNP	C	T	T	rs148490498	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:72180828C>T	uc002llm.2	+	7	1036	c.777C>T	c.(775-777)atC>atT	p.I259I	CNDP2_uc002lln.2_Silent_p.I175I	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	259						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ACATCCTGATCCCCGGCATTA	0.597000														27			5		0	0	0.000602	0	0
ZNF423	23090	broad.mit.edu	37	16	49671261	49671261	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:49671261G>A	uc002efs.3	-	4	2100	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V	ZNF423_uc010vgn.2_Missense_Mutation_p.A484V	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	601					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTCTGCTCGGCCTTGGACTT	0.572000														57			7		0	0	0.003080	0	0
LPAR3	23566	broad.mit.edu	37	1	85331090	85331090	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:85331090C>T	uc001dkl.2	-	0	753	c.714G>A	c.(712-714)atG>atA	p.M238I	LPAR3_uc009wcj.1_Missense_Mutation_p.M238I	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	238					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCACCGTCTTCATTAGCTTCA	0.507000														33			6		0	0	0.001168	0	0
JAK1	3716	broad.mit.edu	37	1	65349124	65349124	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:65349124G>A	uc001dbu.1	-	2	290	c.41C>T	c.(40-42)gCt>gTt	p.A14V	JAK1_uc009wam.1_Missense_Mutation_p.A14V	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	14					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGCACAGAAAGCCATGGCATT	0.473000			Mis		ALL									95			15		0	0	0.006122	0	0
PSG8	440533	broad.mit.edu	37	19	43259363	43259363	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:43259363C>T	uc002ouo.2	-	3	863	c.765G>A	c.(763-765)aaG>aaA	p.K255K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.K255K|PSG8_uc010ein.3_Silent_p.K133K|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	255	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTAAGACATCCTTATTCTCCC	0.483000														224			27		0	0	0.010818	0	0
EIF4B	1975	broad.mit.edu	37	12	53413733	53413733	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:53413733G>A	uc001sbh.4	+	3	606	c.400G>A	c.(400-402)Gag>Aag	p.E134K	EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.E134K|EIF4B_uc010snv.2_Intron	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	134	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.E134Q(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGCAATCCAGAGAGGTTGAA	0.423000														33			6		0	0	0.001984	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64593978	64593978	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:64593978G>A	uc001obs.4	-	35	4563	c.4563C>T	c.(4561-4563)ccC>ccT	p.P1521P		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1521					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCGATCCCTGGGGGCAGGACA	0.562000														12			3		0	0	0.004672	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460440	160460440	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:160460440G>A	uc001fwe.2	-	3	752	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	SLAMF6_uc010pji.2_Silent_p.L117L|SLAMF6_uc001fwd.2_Silent_p.L228L|SLAMF6_uc010pjh.2_Silent_p.L179L|SLAMF6_uc010pjj.2_Silent_p.L117L|SLAMF6_uc009wtm.2_3'UTR	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	228						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ACCATAAACAGAATCATTTTG	0.368000														28			4		0	0	0.001168	0	0
CTSW	1521	broad.mit.edu	37	11	65649961	65649961	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:65649961A>G	uc001ogc.1	+	4	544	c.502A>G	c.(502-504)Atc>Gtc	p.I168V		NM_001335	NP_001326	P56202	CATW_HUMAN	Homo sapiens cathepsin W (CTSW), mRNA.	168					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCTGTGGCGCATCAGTTTCTG	0.637000														60			9		0	0	0.004482	0	0
ZNF521	25925	broad.mit.edu	37	18	22804971	22804972	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:22804971_22804972GG>AA	uc002kvk.2	-	3	3157_3158	c.2910_2911CC>TT	c.(2908-2913)tccctt>tcTTtt	p.L971F	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.L971F|ZNF521_uc002kvl.2_Missense_Mutation_p.L751F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	971					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGAGTTAAAAGGGAGGGAAACC	0.480000			T	PAX5	ALL									61			16		0	0	0.004672	0	0
KCND3	3752	broad.mit.edu	37	1	112329723	112329723	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:112329723C>T	uc001ebu.1	-	2	1592	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	KCND3_uc001ebv.1_Missense_Mutation_p.G371E	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	371						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CACCATGTCTCCGTATCTGAG	0.522000														74			6		0	0	0.003080	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33637760	33637760	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:33637760G>A	uc003jia.1	-	11	1973	c.1810C>T	c.(1810-1812)Cgg>Tgg	p.R604W	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R604W	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	604	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCATCTGCCGAAATGTTGGT	0.468000										HNSCC(64;0.19)				52			6		0	0	0.001168	0	0
ABCB1	5243	broad.mit.edu	37	7	87144652	87144652	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:87144652C>T	uc003uiz.2	-	25	3670	c.3177G>A	c.(3175-3177)gaG>gaA	p.E1059E	ABCB1_uc011khc.2_Silent_p.E995E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1059	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTTCTTCACCTCCAGGCTCA	0.567000														47			9		0	0	0.008291	0	0
CLCA2	9635	broad.mit.edu	37	1	86916403	86916403	+	Silent	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:86916403T>C	uc001dlr.4	+	11	2304	c.2142T>C	c.(2140-2142)ggT>ggC	p.G714G		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	714					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATGTACCAGGTTACACAGCAA	0.443000														76			5		0	0	0.001984	0	0
CPS1	1373	broad.mit.edu	37	2	211532934	211532934	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:211532934C>T	uc010fur.3	+	34	4127	c.4045C>T	c.(4045-4047)Cat>Tat	p.H1349Y	CPS1_uc002vee.4_Missense_Mutation_p.H1343Y|CPS1_uc010fus.3_Missense_Mutation_p.H892Y	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1343					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGAAGGTATTCATACAGCCTT	0.383000														42			4		0	0	0.000602	0	0
EVPL	2125	broad.mit.edu	37	17	74005574	74005574	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:74005574G>A	uc010wss.1	-	21	4006	c.3778C>T	c.(3778-3780)Ctg>Ttg	p.L1260L	EVPL_uc002jqi.2_Silent_p.L1238L|EVPL_uc010wst.1_Silent_p.L708L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1238	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGACCTCCAGGTCGGGCAGC	0.642000														83			11		0	0	0.008291	0	0
C12orf12	196477	broad.mit.edu	37	12	91348321	91348321	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:91348321G>A	uc001tbj.3	-	0	633	c.199C>T	c.(199-201)Ccg>Tcg	p.P67S		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	67										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						TGTTGCTTCGGCTGCTTCCTT	0.652000														32			5		0	0	0.000602	0	0
DSCAM	1826	broad.mit.edu	37	21	41684099	41684099	+	Silent	SNP	G	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:41684099G>T	uc002yyq.1	-	8	2423	c.1971C>A	c.(1969-1971)tcC>tcA	p.S657S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	657	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGAGAGATTGGAAATCCTCA	0.537000														50			17		1.99824e-07	3.0924e-07	0.004990	1	0
FAM108A1	81926	broad.mit.edu	37	19	1881333	1881333	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:1881333T>C	uc002luf.3	-	1	639	c.233A>G	c.(232-234)tAc>tGc	p.Y78C	FAM108A1_uc002lud.3_Missense_Mutation_p.Y78C|FAM108A1_uc002lue.3_Missense_Mutation_p.Y78C|FAM108A1_uc002lug.3_Missense_Mutation_p.Y78C	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	78						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCTGGCTGTACTGGAAGTC	0.706000														37			6		0	0	0.010729	0	0
CCDC147	159686	broad.mit.edu	37	10	106214254	106214254	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:106214254G>A	uc001kyh.3	+	17	2719	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	862										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTGGGGGCGGATTTCCTCTC	0.463000														58			11		0	0	0.004007	0	0
RNF183	138065	broad.mit.edu	37	9	116059999	116059999	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:116059999G>A	uc022bmd.1	-	0	466	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	RNF183_uc004bgz.3_Missense_Mutation_p.R156C|RNF183_uc004bha.3_Missense_Mutation_p.R156C	NM_145051	NP_659488	Q96D59	RN183_HUMAN	Homo sapiens ring finger protein 183 (RNF183), mRNA.	156						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						TGAGGGTTGCGGAAACACTCC	0.587000														62			8		0	0	0.004482	0	0
CACNB2	783	broad.mit.edu	37	10	18825093	18825093	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:18825093G>A	uc001ipr.2	+	11	1330	c.1270G>A	c.(1270-1272)Gta>Ata	p.V424I	CACNB2_uc001ipt.2_Missense_Mutation_p.V386I|CACNB2_uc009xjz.1_Missense_Mutation_p.V174I|CACNB2_uc001ips.2_Missense_Mutation_p.V400I|CACNB2_uc001ipu.3_Missense_Mutation_p.V396I|CACNB2_uc001ipv.3_Missense_Mutation_p.V372I|CACNB2_uc009xka.2_Missense_Mutation_p.V358I|CACNB2_uc001ipw.2_Missense_Mutation_p.V331I|CACNB2_uc001ipx.2_Missense_Mutation_p.V369I|CACNB2_uc001ipz.2_Missense_Mutation_p.V346I|CACNB2_uc001ipy.2_Missense_Mutation_p.V370I|CACNB2_uc010qco.1_Missense_Mutation_p.V338I|CACNB2_uc001iqa.2_Missense_Mutation_p.V376I|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	424					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R423C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGTCCAGATGGTAGCAGCTGA	0.333000														22			4		0	0	0.009096	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912570	29912571	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:29912570_29912571GG>AA	uc002dut.3	+	0	424_425	c.278_279GG>AA	c.(277-279)tgg>tAA	p.W93*	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	93					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTGTTCCTCTGGTACTGCTACC	0.683000														72			14		0	0	0.004672	0	0
KAL1	3730	broad.mit.edu	37	X	8507772	8507772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:8507772C>T	uc004csf.3	-	9	1532	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	461	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGGAAACCACCGCACATGATA	0.478000														26			10		0	0	0.010729	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121807	73121807	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:73121807C>T	uc001jrr.4	+	5	927	c.870C>T	c.(868-870)ttC>ttT	p.F290F	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Silent_p.F144F|SLC29A3_uc001jrt.4_Silent_p.F84F	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	290					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTCCAGATTCATTGATTCCC	0.577000														52			8		0	0	0.003080	0	0
COL21A1	81578	broad.mit.edu	37	6	55925592	55925592	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:55925592C>T	uc003pcs.3	-	27	2585	c.2353_splice	c.e27-1	p.G785_splice	COL21A1_uc010jzz.3_Splice_Site_p.G170_splice|COL21A1_uc011dxg.2_Splice_Site_p.G158_splice|COL21A1_uc011dxh.2_Splice_Site_p.G170_splice|COL21A1_uc003pcr.3_Splice_Site_p.G142_splice	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	785	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAACTCTCTTCCCTGCATCAA	0.318000														12			4		0	0	0.000602	0	0
KIAA0556	23247	broad.mit.edu	37	16	27786390	27786390	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:27786390C>T	uc002dow.3	+	23	4458	c.4434C>T	c.(4432-4434)ccC>ccT	p.P1478P		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1478										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGCTGGCTCCCATCCTGCCGG	0.662000														59			6		0	0	0.003080	0	0
IK	3550	broad.mit.edu	37	5	140032629	140032629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140032629C>T	uc003lgq.3	+	4	414	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	IK_uc011czk.1_Missense_Mutation_p.R102C|IK_uc021yen.1_Missense_Mutation_p.R43C	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	102					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		p.R102C(1)		large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCGGGATCGTGCCAAGGA	0.483000														59			7		0	0	0.001984	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211822	3211822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:3211822G>A	uc010zqe.2	-	8	1269	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	SLC4A11_uc002wig.3_Missense_Mutation_p.P355S|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.P339S	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	355	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGGTACAAGGGGAACCTGCGT	0.602000														91			27		0	0	0.009535	0	0
KRT15	3866	broad.mit.edu	37	17	39673104	39673104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:39673104C>T	uc002hwy.3	-	2	885	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	KRT15_uc002hwz.3_Missense_Mutation_p.G134S|KRT15_uc002hxa.3_Missense_Mutation_p.G67S|KRT15_uc002hxb.1_Missense_Mutation_p.G67S	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	232	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.G232>?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCATTCAGGCCCTCGATCTGC	0.622000														62			9		0	0	0.010729	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248762	140248762	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140248762A>T	uc003lia.2	+	0	932	c.74A>T	c.(73-75)gAg>gTg	p.E25V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.E25V	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	38					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATTCTGGGAGGTGGGGAGC	0.597000														112			19		0	0	0.012319	0	0
PER3	8863	broad.mit.edu	37	1	7887212	7887212	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:7887212C>T	uc001aop.3	+	16	2447	c.2223C>T	c.(2221-2223)ggC>ggT	p.G741G	PER3_uc009vmg.1_Silent_p.G741G|PER3_uc009vmh.1_Silent_p.G734G|PER3_uc001aoo.3_Silent_p.G733G|PER3_uc010nzw.2_Silent_p.G422G	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCGGCCGGCTGCAGGAAAG	0.557000														34			5		0	0	0.001168	0	0
RBP3	5949	broad.mit.edu	37	10	48387899	48387899	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:48387899G>A	uc001jez.3	-	0	3093	c.2979C>T	c.(2977-2979)tcC>tcT	p.S993S		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	993	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGGGTCTCCGGAGAGCATCT	0.602000														80			12		0	0	0.010729	0	0
CLDN4	1364	broad.mit.edu	37	7	73245625	73245625	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:73245625G>A	uc003tzi.4	+	0	433	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	32					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CATGTGGCGCGTGACGGCCTT	0.632000														50			8		0	0	0.003080	0	0
CRIM1	51232	broad.mit.edu	37	2	36737131	36737131	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:36737131G>A	uc002rpd.3	+	8	1573	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	503					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CACAGCCGAGGAACTATGTTC	0.498000														56			17		0	0	0.007413	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766297	171766297	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:171766297G>A	uc003mbr.3	-	12	1983	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	604					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACTTCCTTGGCCAAGACCT	0.557000														83			14		0	0	0.001855	0	0
TCTE1	202500	broad.mit.edu	37	6	44253875	44253875	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:44253875G>A	uc003oxi.2	-	2	828	c.672C>T	c.(670-672)acC>acT	p.T224T	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	224								p.T224T(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTGGTCAACGGTGGGCTCCT	0.637000														88			6		0	0	0.001984	0	0
ACTL9	284382	broad.mit.edu	37	19	8808355	8808355	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:8808355C>T	uc002mkl.2	-	0	818	c.697G>A	c.(697-699)Gcg>Acg	p.A233T		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	233						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGCATCTCCGCCAGGAAGGCG	0.637000														52			6		0	0	0.001984	0	0
C4orf37	285555	broad.mit.edu	37	4	98633937	98633937	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:98633937C>T	uc003htt.2	-	9	1323	c.1233G>A	c.(1231-1233)agG>agA	p.R411R		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	411										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GGCAAGATTTCCTTAAAACAG	0.338000														41			6		0	0	0.001984	0	0
AGPHD1	123688	broad.mit.edu	37	15	78825602	78825602	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:78825602A>C	uc010unc.2	+	4	825	c.712A>C	c.(712-714)Aag>Cag	p.K238Q	AGPHD1_uc010ble.3_Intron	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA.	238						cytoplasm	kinase activity	p.K238M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						AGAGTCCAGCAAGTCAGCCTC	0.353000														45			9		0	0	0.008291	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995973	57995973	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:57995973G>A	uc010rkd.2	-	0	418	c.375C>T	c.(373-375)gaC>gaT	p.D125D		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CCACATAGCGGTCATAGGCCA	0.607000														37			5		0	0	0.001984	0	0
OR4S2	219431	broad.mit.edu	37	11	55419207	55419207	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:55419207C>T	uc001nhs.1	+	0	828	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I276N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACACCATTATCACTCCCATGT	0.408000														56			7		0	0	0.003080	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19715909	19715909	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:19715909C>T	uc002ykw.3	-	11	1373	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	448	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACTGTCTTCTCCATATTTTGG	0.308000														60			12		0	0	0.013537	0	0
SETD1A	9739	broad.mit.edu	37	16	30991855	30991855	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:30991855C>T	uc002ead.1	+	14	5144	c.4458C>T	c.(4456-4458)ccC>ccT	p.P1486P		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1486	Interaction with ASH2L, RBBP5 and WDR5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGATGGGCCCCGGGAGCACC	0.642000														79			11		0	0	0.013537	0	0
COQ9	57017	broad.mit.edu	37	16	57493987	57493987	+	Missense_Mutation	SNP	G	A	A	rs140788797		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:57493987G>A	uc002elq.3	+	7	973	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	COQ9_uc002els.3_Missense_Mutation_p.V91M|POLR2C_uc010vhq.2_5'Flank|POLR2C_uc002elt.1_5'Flank	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	298					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						AGAGGCACTGGTGCAAGGACT	0.532000														42			5		0	0	0.001984	0	0
SERPINB12	89777	broad.mit.edu	37	18	61231222	61231222	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:61231222G>A	uc010xeo.2	+	4	574	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	SERPINB12_uc010xen.2_Missense_Mutation_p.E172K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	172					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.V191A(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TAAAATCAAGGAACTCTTCAG	0.343000														82			14		0	0	0.004007	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133698444	133698444	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:133698444C>A	uc003eqa.4	-	1	389	c.115G>T	c.(115-117)Ggc>Tgc	p.G39C	SLCO2A1_uc011blv.2_Missense_Mutation_p.G39C|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	39					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGCAGGAGGCCTTGGCAGAGC	0.607000														48			6		0.00116845	0.00179368	0.001168	1	0
PARP14	54625	broad.mit.edu	37	3	122437232	122437232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:122437232C>T	uc003efq.4	+	13	4293	c.4234C>T	c.(4234-4236)Ccc>Tcc	p.P1412S	PARP14_uc021xdc.1_Missense_Mutation_p.P1276S|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.P1129S|PARP14_uc003efs.1_Missense_Mutation_p.P1129S	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.R1411W(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAAGCAATCTCCCCAAAAAAA	0.353000														71			13		0	0	0.001855	0	0
MS4A4A	51338	broad.mit.edu	37	11	60059804	60059804	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:60059804C>T	uc001noz.3	+	1	283	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	MS4A4A_uc001npa.3_Silent_p.L31L|MS4A4A_uc001npc.3_Silent_p.L50L	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	50						integral to membrane	receptor activity	p.V50V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ACATTCACATCTGTGGAAAGG	0.502000														43			9		0	0	0.004482	0	0
SALL1	6299	broad.mit.edu	37	16	51175391	51175391	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:51175391C>T	uc021tif.1	-	1	773	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	SALL1_uc021tid.1_Missense_Mutation_p.E151K|SALL1_uc021tie.1_Missense_Mutation_p.E248K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	248	Poly-Ser.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGAATCTGTTCGATCAATTGC	0.542000														125			20		0	0	0.002780	0	0
ASTN1	460	broad.mit.edu	37	1	176983946	176983946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176983946C>T	uc001glc.3	-	7	1716	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	ASTN1_uc001glb.1_Missense_Mutation_p.E502K|ASTN1_uc001gld.1_Missense_Mutation_p.E502K|ASTN1_uc009wwx.1_Missense_Mutation_p.E502K|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	510	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.E502K(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCCCCATTCGTTCCGAATG	0.493000														252			56		0	0	0.014410	0	0
SCARF1	8578	broad.mit.edu	37	17	1538791	1538791	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:1538791G>A	uc002fsz.1	-	10	1804	c.1754C>T	c.(1753-1755)gCc>gTc	p.A585V	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.A499V	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	585	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGCCGCTTGGCCCGAGCTAG	0.672000														98			19		0	0	0.014323	0	0
VARS2	57176	broad.mit.edu	37	6	30888877	30888877	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:30888877C>T	uc011dmz.2	+	15	1686	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	VARS2_uc003nsc.2_Silent_p.S505S|VARS2_uc011dmx.2_Silent_p.S505S|VARS2_uc011dmy.2_Silent_p.S365S|VARS2_uc011dna.2_Silent_p.S503S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'UTR|VARS2_uc010jsg.2_5'UTR|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	505					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCAGTCCCTCCTTCCACCAGA	0.572000														28			5		0	0	0.001168	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109548	64109548	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:64109548C>T	uc001nzy.3	+	7	807	c.758C>T	c.(757-759)tCg>tTg	p.S253L	CCDC88B_uc009ypo.2_Missense_Mutation_p.S250L|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	253					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGGGCCCCTCGCACCATCTG	0.677000														19			6		0	0	0.001984	0	0
OR51B4	79339	broad.mit.edu	37	11	5322336	5322336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:5322336G>A	uc010qza.2	-	0	841	c.841C>T	c.(841-843)Cct>Tct	p.P281S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGAATGGAGGAAAGAGAAAA	0.428000														48			5		0	0	0.001168	0	0
LGALS12	85329	broad.mit.edu	37	11	63283158	63283158	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:63283158C>T	uc001nxc.2	+	7	1181	c.840C>T	c.(838-840)ttC>ttT	p.F280F	LGALS12_uc001nxa.2_Silent_p.F279F|LGALS12_uc001nxb.2_Silent_p.F270F|LGALS12_uc001nxd.2_Silent_p.F218F|LGALS12_uc001nxe.2_Silent_p.F209F|LGALS12_uc009yot.2_Silent_p.F239F	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	279	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CAGCCCCCTTCCTCTTTTACC	0.552000														40			6		0	0	0.001168	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808297	18808297	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:18808297C>T	uc001bax.3	+	0	874	c.822C>T	c.(820-822)ttC>ttT	p.F274F	KLHDC7A_uc009vpg.3_Silent_p.F56F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	274						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGCATTTCATACAGAAGG	0.592000														113			26		0	0	0.009535	0	0
SPTA1	6708	broad.mit.edu	37	1	158607893	158607893	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158607893C>T	uc001fst.1	-	35	5318	c.5119G>A	c.(5119-5121)Gaa>Aaa	p.E1707K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1707					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E1707K(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCAATTTTTCGTGGTGTGCA	0.443000														65			11		0	0	0.010729	0	0
BPGM	669	broad.mit.edu	37	7	134346736	134346736	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:134346736G>A	uc003vrv.3	+	2	1018	c.477G>A	c.(475-477)aaG>aaA	p.K159K	BPGM_uc003vrw.3_Silent_p.K159K	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	159					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						AAAGCTTAAAGGATGTTCTGG	0.448000														77			11		0	0	0.013537	0	0
ZNF323	64288	broad.mit.edu	37	6	28297436	28297436	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:28297436C>T	uc003nlc.3	-	1	414	c.25G>A	c.(25-27)Gat>Aat	p.D9N	ZNF323_uc003nld.3_Missense_Mutation_p.D9N|ZNF323_uc010jra.3_Missense_Mutation_p.D9N|ZNF323_uc003nla.3_Missense_Mutation_p.D9N|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Missense_Mutation_p.D9N|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D9N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						ATCTTAAGATCGTACTGTTCC	0.418000														83			12		0	0	0.010729	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56779477	56779477	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:56779477C>T	uc003dih.2	-	9	832	c.722G>A	c.(721-723)aGc>aAc	p.S241N	ARHGEF3_uc011bew.1_Missense_Mutation_p.S209N|ARHGEF3_uc011bev.1_Missense_Mutation_p.S180N|ARHGEF3_uc003dif.2_Missense_Mutation_p.S215N|ARHGEF3_uc003dig.2_Missense_Mutation_p.S209N|ARHGEF3_uc010hmy.1_Missense_Mutation_p.S7N|ARHGEF3_uc003dii.2_Missense_Mutation_p.S209N	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	209	DH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ATCATAGGAGCTGAGGCAAGG	0.458000														112			19		0	0	0.008871	0	0
NR3C1	2908	broad.mit.edu	37	5	142689710	142689710	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:142689710G>A	uc003lnd.3	-	3	2414	c.1420C>T	c.(1420-1422)Cca>Tca	p.P474S	NR3C1_uc003lmy.3_Missense_Mutation_p.P475S|NR3C1_uc003lmz.3_Missense_Mutation_p.P139S|NR3C1_uc003lna.3_Missense_Mutation_p.P474S|NR3C1_uc003lnb.3_Missense_Mutation_p.P474S|NR3C1_uc011dbk.2_Missense_Mutation_p.P77S|NR3C1_uc003lnf.3_Missense_Mutation_p.P475S|NR3C1_uc003lne.3_Missense_Mutation_p.P474S|NR3C1_uc003lnc.3_Missense_Mutation_p.P474S|NR3C1_uc021yfa.1_Missense_Mutation_p.P474S|NR3C1_uc021yfb.1_Missense_Mutation_p.P474S	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	474					chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CGGCATGCTGGGCAGTTTTTT	0.358000														47			9		0	0	0.008291	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256428	24256428	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:24256428G>A	uc003xdz.2	+	8	1024	c.804G>A	c.(802-804)atG>atA	p.M268I	ADAMDEC1_uc010lub.2_Missense_Mutation_p.M189I|ADAMDEC1_uc011lab.1_Missense_Mutation_p.M189I	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	268	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGGTAGGTATGGAAATCTGGT	0.438000														27			6		0	0	0.001984	0	0
MUC5B	727897	broad.mit.edu	37	11	1159336	1159336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:1159336G>A	uc021qbr.1	+	10	1360	c.1313G>A	c.(1312-1314)gGa>gAa	p.G438E				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	429	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCTGTGCTTGGAGGTGCCCAC	0.642000														70			17		0	0	0.006122	0	0
SLFN11	91607	broad.mit.edu	37	17	33680911	33680911	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:33680911C>T	uc002hjg.4	-	3	1613	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	SLFN11_uc010ctr.3_Missense_Mutation_p.G456R|SLFN11_uc010ctp.3_Missense_Mutation_p.G456R|SLFN11_uc010ctq.3_Missense_Mutation_p.G456R|SLFN11_uc002hjh.4_Missense_Mutation_p.G456R	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	456						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGATGACTCCTGGCTTCTCC	0.483000														30			10		0	0	0.010729	0	0
PBX1	5087	broad.mit.edu	37	1	164761910	164761910	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:164761910G>A	uc001gct.3	+	2	908	c.445G>A	c.(445-447)Gat>Aat	p.D149N	PBX1_uc010pku.2_Missense_Mutation_p.D149N|PBX1_uc001gcs.3_Missense_Mutation_p.D149N|PBX1_uc010pkv.2_Missense_Mutation_p.D66N|PBX1_uc010pkw.1_Missense_Mutation_p.D39N	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	149					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGAGCATTCAGATTACAGAGC	0.622000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									84			19		0	0	0.008871	0	0
CNR1	1268	broad.mit.edu	37	6	88854232	88854232	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:88854232G>A	uc010kbz.3	-	1	892	c.762C>T	c.(760-762)ggC>ggT	p.G254G	CNR1_uc011dzr.2_Silent_p.G254G|CNR1_uc011dzs.2_Silent_p.G254G|CNR1_uc003pmq.4_Silent_p.G254G|CNR1_uc011dzt.2_Silent_p.G254G|CNR1_uc010kca.3_Silent_p.G221G|CNR1_uc021zco.1_Silent_p.G254G	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	254					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)	CGCAGTTCCAGCCCAGGAGAG	0.542000														69			8		0	0	0.006214	0	0
ANPEP	290	broad.mit.edu	37	15	90344822	90344822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:90344822G>A	uc002bop.4	-	10	1878	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	529	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GAGTTGGATGGACCGGTTGTT	0.637000														38			6		0	0	0.001984	0	0
MRPL14	64928	broad.mit.edu	37	6	44081941	44081941	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:44081941G>A	uc003owp.3	-	2	206	c.77C>T	c.(76-78)aCt>aTt	p.T26I		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	Homo sapiens mitochondrial ribosomal protein L14 (MRPL14), nuclear gene encoding mitochondrial protein, mRNA.	26					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CAGACTCCCAGTGGTGCTGGT	0.542000														161			15		0	0	0.004007	0	0
OR10H1	26539	broad.mit.edu	37	19	15918098	15918098	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:15918098G>A	uc002nbq.2	-	0	839	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V249L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CATAGTGCACGACCACCACAG	0.552000														37			5		0	0	0.006214	0	0
FBN2	2201	broad.mit.edu	37	5	127626458	127626458	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:127626458C>T	uc003kuu.3	-	49	6850	c.6411G>A	c.(6409-6411)ggG>ggA	p.G2137G		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2137	TB 8.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.W2136R(1)|p.G2137A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGGGGTCCCCCCAGCCCT	0.463000														79			9		0	0	0.010729	0	0
CER1	9350	broad.mit.edu	37	9	14722166	14722166	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:14722166G>A	uc003zlj.3	-	0	550	c.505C>T	c.(505-507)Cag>Tag	p.Q169*		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	169	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		ACACATACCTGGCTGAAGGGC	0.537000														68			11		0	0	0.013537	0	0
DNAH7	56171	broad.mit.edu	37	2	196759936	196759936	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:196759936C>T	uc002utj.4	-	29	4761	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1554					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1553S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAAACAAATCCGAAGTAATT	0.313000														23			7		0	0	0.001984	0	0
SPOCD1	90853	broad.mit.edu	37	1	32264050	32264050	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:32264050C>T	uc001bts.1	-	7	2079	c.2021G>A	c.(2020-2022)aGg>aAg	p.R674K	SPOCD1_uc001btu.3_Missense_Mutation_p.R674K|SPOCD1_uc001btv.3_Missense_Mutation_p.R167K|SPOCD1_uc021oks.1_5'UTR|SPOCD1_uc001btw.1_5'UTR	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	674	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CACCAGGTTCCTGGGGTCCCG	0.622000														63			7		0	0	0.001984	0	0
MTERFD3	80298	broad.mit.edu	37	12	107372306	107372306	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:107372306G>A	uc001tme.1	-	1	2006	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	MTERFD3_uc001tmf.1_Missense_Mutation_p.R63C|MTERFD3_uc001tmg.1_Missense_Mutation_p.R63C|MTERFD3_uc021rdh.1_Missense_Mutation_p.R63C|MTERFD3_uc001tmh.1_Missense_Mutation_p.R63C	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTTAATCTACGAATTTTCCTA	0.368000														97			14		0	0	0.004007	0	0
OXSM	54995	broad.mit.edu	37	3	25833013	25833013	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:25833013C>T	uc003cdn.3	+	1	609	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Nonsense_Mutation_p.Q168*|OXSM_uc011awp.2_Intron	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	168					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTTGAATTTTCAGACAAAAGG	0.433000														88			10		0	0	0.010729	0	0
HCN1	348980	broad.mit.edu	37	5	45262291	45262291	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:45262291G>A	uc003jok.3	-	7	2430	c.2405C>T	c.(2404-2406)tCc>tTc	p.S802F		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	802						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGAGGTCTGGAAATCAGAGT	0.657000														43			9		0	0	0.004482	0	0
DHX36	170506	broad.mit.edu	37	3	154032852	154032852	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:154032852G>A	uc003ezy.4	-	2	667	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	DHX36_uc010hvq.3_Missense_Mutation_p.R196W|DHX36_uc003ezz.4_Missense_Mutation_p.R196W	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	196						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R196W(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCAATATACCGAAGGTCATTT	0.299000														25			6		0	0	0.001168	0	0
FOCAD	54914	broad.mit.edu	37	9	20926395	20926395	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:20926395A>T	uc003zog.1	+	27	3420	c.3057A>T	c.(3055-3057)caA>caT	p.Q1019H	FOCAD_uc003zoh.1_Missense_Mutation_p.Q455H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1019						integral to membrane	binding										CCAGAGGGCAACTTCTCTCCT	0.373000														70			14		0	0	0.002450	0	0
KRT6C	286887	broad.mit.edu	37	12	52862870	52862870	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:52862870G>A	uc001sal.4	-	8	1719	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	557	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TCTTCCTGCTGGAGGAGGAGG	0.602000														66			11		0	0	0.013537	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334850	142334850	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142334850C>T	uc003vzp.2	+	1	327	c.272C>T	c.(271-273)tCc>tTc	p.S91F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Missense_Mutation_p.S92F|TCRBV2S1_uc022anq.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGACCTTGTCCACTCTGACA	0.547000														72			38		0	0	0.004878	0	0
RXFP1	59350	broad.mit.edu	37	4	159526268	159526268	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:159526268G>A	uc003ipz.3	+	4	704	c.441G>A	c.(439-441)aaG>aaA	p.K147K	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_Silent_p.K66K|RXFP1_uc010iqo.3_Silent_p.K147K|RXFP1_uc011cjb.2_Silent_p.K93K|RXFP1_uc011cjc.2_Silent_p.K66K|RXFP1_uc011cjd.2_Silent_p.K66K|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Silent_p.K174K|RXFP1_uc010iqm.3_Silent_p.K114K|RXFP1_uc011cjf.2_Silent_p.K17K|RXFP1_uc010iqn.3_Silent_p.K93K	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	147						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTGCTTCAAGAATTATCATG	0.303000														31			8		0	0	0.004482	0	0
FAM173B	134145	broad.mit.edu	37	5	10239295	10239295	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:10239295G>A	uc003jeo.2	-	1	219	c.190C>T	c.(190-192)Cga>Tga	p.R64*	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Nonsense_Mutation_p.R64*	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	64						integral to membrane		p.R64Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAGACTTTTCGAAGGGCTGGC	0.507000														93			18		0	0	0.002780	0	0
OVCH1	341350	broad.mit.edu	37	12	29630484	29630484	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:29630484C>T	uc001rix.1	-	9	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	366	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTTTTGTTTTCCATCGTCTTC	0.358000														28			4		0	0	0.009096	0	0
JPH2	57158	broad.mit.edu	37	20	42788512	42788512	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:42788512C>T	uc002xli.1	-	1	1788	c.915G>A	c.(913-915)gtG>gtA	p.V305V		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	305					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G304V(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCGTTCGCTCACGCCGAAGC	0.687000														27			4		0	0	0.009096	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559573	46559573	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:46559573G>A	uc010tfw.1	-	8	1585	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	ZC3H13_uc001vas.1_Missense_Mutation_p.R527W|ZC3H13_uc001vat.1_Missense_Mutation_p.R527W	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	527	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCATAACTCCGGGATTCTTCT	0.453000														66			10		0	0	0.008291	0	0
DDB1	1642	broad.mit.edu	37	11	61079489	61079489	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:61079489G>A	uc001nrc.4	-	16	2363	c.2137C>T	c.(2137-2139)Cgc>Tgc	p.R713C	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R713C	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	713	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGAACTGTGCGAATGTGCAGC	0.552000								Nucleotide excision repair (NER)						149			27		0	0	0.005443	0	0
SLC12A5	57468	broad.mit.edu	37	20	44681630	44681630	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:44681630C>T	uc010zxl.1	+	18	2557	c.2481C>T	c.(2479-2481)gcC>gcT	p.A827A	SLC12A5_uc002xrb.2_Silent_p.A804A	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	827					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCACTTAGCCCTGCTGGTCA	0.592000														25			6		0	0	0.001168	0	0
FGD5	152273	broad.mit.edu	37	3	14964556	14964556	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:14964556G>C	uc003bzc.3	+	15	3921	c.3811G>C	c.(3811-3813)Gtg>Ctg	p.V1271L	FGD5_uc011avk.2_Missense_Mutation_p.V1271L|FGD5_uc003bzd.3_Missense_Mutation_p.V349L	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1271					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGCAGATCGTGTGCCGGAA	0.607000														94			7		0	0	0.003080	0	0
HERC2P3	283755	broad.mit.edu	37	15	20658892	20658892	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:20658892G>A	uc001ytg.3	-	13	1994	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	HERC2P3_uc010tyx.1_Intron|HERC2P3_uc001yth.4_Missense_Mutation_p.P429S|HERC2P3_uc010tyy.2_Missense_Mutation_p.P429S|HERC2P3_uc010tyz.1_Missense_Mutation_p.P277S					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATTCCCTCAGGAATAAGTCTT	0.363000														51			17		0	0	0.014323	0	0
TIMM22	29928	broad.mit.edu	37	17	900467	900467	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:900467C>T	uc002fsc.3	+	0	111	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA.	29					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAGCCTGCTCCTGCAGTACCT	0.672000														36			11		0	0	0.001855	0	0
FADS3	3995	broad.mit.edu	37	11	61646236	61646236	+	Silent	SNP	G	A	A	rs115282539	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:61646236G>A	uc001nsm.3	-	3	759	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	202					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCCCATCACGAACTTCTGGG	0.642000														22			8		0	0	0.006214	0	0
USP7	7874	broad.mit.edu	37	16	9000299	9000299	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:9000299G>A	uc002czl.2	-	12	1611	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L	USP7_uc010uyk.1_Missense_Mutation_p.P372L|USP7_uc010uyj.1_Missense_Mutation_p.P372L|USP7_uc002czk.2_Missense_Mutation_p.P455L|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	471					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATCCCCTTTGGGGTTTAGATA	0.448000														88			20		0	0	0.002780	0	0
SYCP1	6847	broad.mit.edu	37	1	115399263	115399263	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:115399263G>A	uc001efr.3	+	2	387	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E60K|SYCP1_uc009wgw.3_Missense_Mutation_p.E60K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	60	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAAATGGGGAAAACATTGA	0.318000														67			9		0	0	0.010729	0	0
HAS3	3038	broad.mit.edu	37	16	69143412	69143412	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:69143412G>A	uc010cfh.3	+	1	338	c.114G>A	c.(112-114)acG>acA	p.T38T	HAS3_uc002ewk.3_Silent_p.T38T|HAS3_uc010vlk.1_Silent_p.T38T|HAS3_uc002ewl.3_Silent_p.T38T	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	38					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCATCCACACGGAAAAGCACT	0.622000														44			7		0	0	0.001984	0	0
FNDC9	408263	broad.mit.edu	37	5	156770028	156770028	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:156770028C>T	uc003lwu.2	-	1	705	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Missense_Mutation_p.E173K	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	173						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TGCAGGTCTTCCTCCCTCTGA	0.617000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			13		0	0	0.001855	0	0
USH2A	7399	broad.mit.edu	37	1	215963483	215963483	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:215963483C>T	uc001hku.1	-	50	10487	c.10100G>A	c.(10099-10101)aGc>aAc	p.S3367N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3367					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCATTTCTGGCTCTTTGGAAT	0.383000										HNSCC(13;0.011)				32			7		0	0	0.003080	0	0
VPS41	27072	broad.mit.edu	37	7	38783015	38783015	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:38783015G>A	uc003tgy.3	-	23	2135	c.2109C>T	c.(2107-2109)tcC>tcT	p.S703S	VPS41_uc003tgz.3_Silent_p.S678S|VPS41_uc010kxn.3_Silent_p.S614S|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	703					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTTTGTCAATGGAATATAAAA	0.338000														15			6		0	0	0.001984	0	0
TC2N	123036	broad.mit.edu	37	14	92249508	92249508	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:92249508C>T	uc001xzu.4	-	11	1600	c.1409G>A	c.(1408-1410)tGg>tAg	p.W470*	TC2N_uc001xzt.4_Nonsense_Mutation_p.W470*|TC2N_uc010auc.3_Nonsense_Mutation_p.W406*|TC2N_uc001xzv.4_Nonsense_Mutation_p.W470*	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	470						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TGTCTCTTTCCACTGGTTCAC	0.323000														78			7		0	0	0.004482	0	0
CSHL1	1444	broad.mit.edu	37	17	61987860	61987860	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:61987860G>A	uc002jda.1	-	2	288	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	CSHL1_uc002jcz.1_Intron|CSHL1_uc002jdb.1_5'UTR|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc021ubn.1_Silent_p.S106S	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	76						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GAGTCATGCAGGAATGAATAC	0.517000														133			10		0	0	0.008291	0	0
ENAM	10117	broad.mit.edu	37	4	71509504	71509504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:71509504G>A	uc011caw.1	+	8	2642	c.2361G>A	c.(2359-2361)tgG>tgA	p.W787*		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	787					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAAATATCTGGGATCAGGCAA	0.473000														47			6		0	0	0.004482	0	0
COL13A1	1305	broad.mit.edu	37	10	71654450	71654450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:71654450G>A	uc001jql.3	+	10	1159	c.623G>A	c.(622-624)gGa>gAa	p.G208E	COL13A1_uc021prz.1_Missense_Mutation_p.G208E|COL13A1_uc021psa.1_Missense_Mutation_p.G170E|COL13A1_uc021psb.1_Missense_Mutation_p.G179E|COL13A1_uc001jqk.2_Missense_Mutation_p.G208E|COL13A1_uc021psc.1_Missense_Mutation_p.G208E|COL13A1_uc021psd.1_Missense_Mutation_p.G208E|COL13A1_uc010qjf.2_Missense_Mutation_p.G170E|COL13A1_uc021pse.1_Missense_Mutation_p.G179E|COL13A1_uc021psf.1_Missense_Mutation_p.G208E|COL13A1_uc021psg.1_Missense_Mutation_p.G208E|COL13A1_uc021psh.1_Missense_Mutation_p.G208E	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	208	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.G191E(1)|p.G208E(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGACAAAAAGGAGAAAAGGTA	0.463000														55			14		0	0	0.007413	0	0
C9orf11	54586	broad.mit.edu	37	9	27291062	27291062	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:27291062C>T	uc003zql.3	-	5	461	c.377_splice	c.e5-1	p.R126_splice	C9orf11_uc011lnq.2_Splice_Site_p.G97_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	126						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		GGGGTTGATCCTGTTaaaaca	0.338000														21			6		0	0	0.001168	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58024844	58024844	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:58024844G>A	uc001spg.1	-	3	841	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F	B4GALNT1_uc010sru.2_Missense_Mutation_p.L82F|B4GALNT1_uc010srv.2_Missense_Mutation_p.L137F|B4GALNT1_uc001spi.3_Missense_Mutation_p.L137F	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	137					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGGCTATGAGCAGCTGGTCA	0.642000														55			13		0	0	0.013537	0	0
SIRPB1	10326	broad.mit.edu	37	20	1546882	1546882	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:1546882G>A	uc010gai.3	-	4	1215	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	SIRPB1_uc002wfk.4_Silent_p.L155L	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	372					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGAGAGCTACGAGGAGTGGAG	0.587000														20			10		0	0	0.010729	0	0
DNAH3	55567	broad.mit.edu	37	16	21042418	21042418	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:21042418C>T	uc010vbe.2	-	36	5388	c.5388G>A	c.(5386-5388)gtG>gtA	p.V1796V		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1796	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAATAGCATCCACTGGCCCAT	0.428000														63			9		0	0	0.004482	0	0
PAPL	390928	broad.mit.edu	37	19	39589716	39589716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:39589716C>T	uc002oki.3	+	3	713	c.439C>T	c.(439-441)Ccg>Tcg	p.P147S	PAPL_uc010egl.3_Missense_Mutation_p.P147S	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	147						extracellular region	acid phosphatase activity|metal ion binding										GGCTGACAACCCGAAGGCCGT	0.687000														92			12		0	0	0.003163	0	0
PAPPA	5069	broad.mit.edu	37	9	118949912	118949912	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:118949912C>T	uc004bjn.3	+	1	1276	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S	PAPPA_uc011lxp.1_Missense_Mutation_p.P92S|PAPPA_uc011lxq.2_Missense_Mutation_p.P92S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	299	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.P299H(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCCTGGTCCCCCATGAAGGA	0.577000														61			9		0	0	0.004482	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857657	9857657	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:9857657G>A	uc010uym.2	-	13	4054	c.3744C>T	c.(3742-3744)atC>atT	p.I1248I	GRIN2A_uc002czo.4_Silent_p.I1248I|GRIN2A_uc010uyn.2_Silent_p.I1091I|GRIN2A_uc002czr.4_Silent_p.I1248I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1248					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.I1248I(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTCTTCATCGATGTCATAGA	0.547000														63			6		0	0	0.001168	0	0
HOXA3	3200	broad.mit.edu	37	7	27148122	27148122	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:27148122C>T	uc011jzl.2	-	2	944	c.744G>A	c.(742-744)aaG>aaA	p.K248K	HOXA3_uc003syk.3_Silent_p.K248K	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	248					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCTTCTGATCCTTTTTGTACT	0.597000														82			20		0	0	0.008871	0	0
SLC13A4	26266	broad.mit.edu	37	7	135375975	135375975	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:135375975C>T	uc003vtb.3	-	12	2109	c.1420G>A	c.(1420-1422)Ggc>Agc	p.G474S	SLC13A4_uc003vta.3_Missense_Mutation_p.G473S|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	473						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGAGCATAGCCTCCCCCAACC	0.507000														70			6		0	0	0.001984	0	0
DVL1	1855	broad.mit.edu	37	1	1275673	1275673	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:1275673G>A	uc001aer.4	-	6	770	c.723C>T	c.(721-723)acC>acT	p.T241T	DVL1_uc009vka.3_5'Flank|DVL1_uc002quu.3_5'Flank|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	241					Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGTGGAGTCGGTTATGCTGC	0.662000														61			10		0	0	0.008291	0	0
FLG	2312	broad.mit.edu	37	1	152283934	152283934	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:152283934C>T	uc001ezu.1	-	2	3464	c.3428G>A	c.(3427-3429)gGa>gAa	p.G1143E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1143	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGTGGGATCCTTGTCTTCG	0.597000									Ichthyosis					250			50		0	0	0.014410	0	0
FCRLA	84824	broad.mit.edu	37	1	161681928	161681929	+	Missense_Mutation	DNP	CC	AT	AT	rs147507735		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:161681928_161681929CC>AT	uc001gbe.3	+	4	1015_1016	c.773_774CC>AT	c.(772-774)tcc>tAT	p.S258Y	FCRLA_uc001gbg.3_Missense_Mutation_p.S112Y|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Missense_Mutation_p.S252Y|FCRLA_uc001gbf.3_Missense_Mutation_p.S163Y|FCRLA_uc009wuo.3_Missense_Mutation_p.S118Y	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	235					cell differentiation	cytoplasm|extracellular region		p.S235S(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GAAGATCACTCCGGGTCATACT	0.550000														65			12		0	0	0.004672	0	0
PLP1	5354	broad.mit.edu	37	X	103042837	103042837	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:103042837C>T	uc010nov.3	+	4	844	c.564C>T	c.(562-564)gcC>gcT	p.A188A	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Silent_p.A188A|PLP1_uc004elj.3_Silent_p.A153A|PLP1_uc011msf.2_Silent_p.A133A|PLP1_uc010nox.3_Silent_p.A142A	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	188					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGTCTATTGCCTTCCCCAGCA	0.537000														46			6		0	0	0.004482	0	0
TPSD1	23430	broad.mit.edu	37	16	1306606	1306606	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:1306606C>T	uc002clb.1	+	1	181	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	TPSD1_uc010brm.1_5'UTR	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CCTGAGAGTCCGCGGCCCATA	0.692000														77			15		0	0	0.004007	0	0
PCK1	5105	broad.mit.edu	37	20	56136488	56136488	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:56136488C>T	uc002xyn.4	+	1	184	c.21C>T	c.(19-21)aaC>aaT	p.N7N	PCK1_uc010zzm.2_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	7					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGCTGCAAAACGGCCTGAACC	0.532000														107			21		0	0	0.002780	0	0
PTPRS	5802	broad.mit.edu	37	19	5239014	5239014	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:5239014C>T	uc002mbv.3	-	12	1999	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	PTPRS_uc002mbu.1_Missense_Mutation_p.E576K|PTPRS_uc010xin.2_Missense_Mutation_p.E576K|PTPRS_uc002mbw.3_Missense_Mutation_p.E576K|PTPRS_uc002mbx.3_Missense_Mutation_p.E580K|PTPRS_uc002mby.3_Missense_Mutation_p.E576K	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	589	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AAGGCGTACTCCGTGTTGGGC	0.697000														87			19		0	0	0.008871	0	0
RAB27B	5874	broad.mit.edu	37	18	52546599	52546599	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:52546599G>A	uc002lfr.3	+	3	397	c.154_splice	c.e3-1	p.V52_splice		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	52					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GTATCTTTCAGGTTTATAATG	0.388000														36			6		0	0	0.003080	0	0
SORCS1	114815	broad.mit.edu	37	10	108357136	108357136	+	Missense_Mutation	SNP	G	A	A	rs147754225		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:108357136G>A	uc001kyl.3	-	23	3420	c.3238C>T	c.(3238-3240)Ctt>Ttt	p.L1080F	SORCS1_uc021pxw.1_Missense_Mutation_p.L1080F|SORCS1_uc009xxs.3_Missense_Mutation_p.L1080F|SORCS1_uc001kym.3_Missense_Mutation_p.L1080F|SORCS1_uc001kyn.2_Missense_Mutation_p.L1080F|SORCS1_uc001kyo.3_Missense_Mutation_p.L1080F	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	1080						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCATGGACAAGGACTCGGACT	0.512000														28			7		0	0	0.004482	0	0
GPR98	84059	broad.mit.edu	37	5	90059138	90059138	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:90059138C>T	uc003kju.3	+	58	12233	c.12137C>T	c.(12136-12138)tCc>tTc	p.S4046F	GPR98_uc003kjt.3_Missense_Mutation_p.S1752F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4046					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGATGAATCCCTTTCATCC	0.398000														15			5		0	0	0.001168	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149141	142149141	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142149141G>A	uc010lnw.1	-	1	212	c.130C>T	c.(130-132)Cct>Tct	p.P44S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCAGAGATAGGAGAGCATCTC	0.522000														121			7		0	0	0.003080	0	0
LPPR1	54886	broad.mit.edu	37	9	104079698	104079698	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:104079698C>A	uc004bbb.3	+	6	1264	c.865C>A	c.(865-867)Ccc>Acc	p.P289T	LPPR1_uc011lvi.2_Missense_Mutation_p.P265T|LPPR1_uc004bbc.3_Missense_Mutation_p.P289T|LPPR1_uc010mtc.3_Missense_Mutation_p.P273T	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	289						integral to membrane	catalytic activity										TCCTTCCAAACCCAAGCCTGA	0.483000														207			28		7.26314e-15	1.12926e-14	0.007291	1	0
TNR	7143	broad.mit.edu	37	1	175355337	175355337	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:175355337C>T	uc001gkp.1	-	5	1689	c.1608G>A	c.(1606-1608)ttG>ttA	p.L536L	TNR_uc009wwu.1_Silent_p.L536L	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	536	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCCATATTTCAAAAGAATGA	0.597000														20			7		0	0	0.003080	0	0
MTOR	2475	broad.mit.edu	37	1	11307752	11307753	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:11307752_11307753GT>AA	uc001asd.3	-	7	1275_1276	c.1154_1155AC>TT	c.(1153-1155)aac>aTT	p.N385I		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	385					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGATCAGCGAGTTCTTGCTATT	0.500000														69			13		0	0	0.004672	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19216515	19216516	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:19216515_19216516GG>AA	uc001bbb.3	-	1	422_423	c.146_147CC>TT	c.(145-147)gcc>gTT	p.A49V	ALDH4A1_uc010ocu.2_5'UTR|ALDH4A1_uc001bbc.3_Missense_Mutation_p.A49V|ALDH4A1_uc021ohl.1_Missense_Mutation_p.A49V	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	49					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CCTTTTGCAGGGCATCTCGCTC	0.653000														19			4		0	0	0.004672	0	0
XDH	7498	broad.mit.edu	37	2	31562439	31562439	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:31562439G>A	uc002rnv.1	-	33	3769	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1230					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAAATGCCGGGATCTTGTAGG	0.592000														110			11		0	0	0.008291	0	0
NNMT	4837	broad.mit.edu	37	11	114182868	114182868	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:114182868C>T	uc001por.1	+	4	728	c.464C>T	c.(463-465)cCc>cTc	p.P155L	NNMT_uc001pos.1_Missense_Mutation_p.P155L	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	155					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GTCCCCTTACCCCCGGCTGAC	0.627000														82			15		0	0	0.004007	0	0
ARID3B	10620	broad.mit.edu	37	15	74887989	74887989	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:74887989C>T	uc002aye.3	+	8	1761	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	ARID3B_uc002ayd.3_Silent_p.I519I|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCCACCTCATCACGGGGTCTG	0.637000														41			7		0	0	0.001984	0	0
CDC27	996	broad.mit.edu	37	17	45234463	45234463	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:45234463A>C	uc002ile.4	-	6	785	c.658T>G	c.(658-660)Tcc>Gcc	p.S220A	CDC27_uc002ild.4_Missense_Mutation_p.S220A|CDC27_uc002ilf.4_Missense_Mutation_p.S220A|CDC27_uc010wkp.2_Missense_Mutation_p.S159A|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTTGAATTGGAAGATTCTAAA	0.323000														22			3		0	0	0.004672	0	0
ZNF8	7554	broad.mit.edu	37	19	58806168	58806168	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:58806168C>T	uc002qry.1	+	3	1124	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TACCGTCCATCGGAGGATTCA	0.572000														59			8		0	0	0.003080	0	0
TAF2	6873	broad.mit.edu	37	8	120801086	120801086	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:120801086C>A	uc003you.3	-	12	1897	c.1627G>T	c.(1627-1629)Gtc>Ttc	p.V543F		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	543					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTTCCAAGACATTTCGTTTT	0.348000														68			10		6.40141e-05	9.86083e-05	0.010729	1	0
C1orf173	127254	broad.mit.edu	37	1	75038499	75038499	+	Silent	SNP	C	T	T	rs148451571		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:75038499C>T	uc001dgg.3	-	13	3114	c.2895G>A	c.(2893-2895)aaG>aaA	p.K965K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	965	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGTCCTCTCTCTTTGATGCTG	0.522000														90			16		0	0	0.004007	0	0
PSD3	23362	broad.mit.edu	37	8	18729272	18729272	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:18729272G>A	uc003wza.3	-	2	1205	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	368					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTCTCTGAAGGAGCTTTCCAG	0.468000														69			5		0	0	0.000602	0	0
ZNF667	63934	broad.mit.edu	37	19	56952796	56952796	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:56952796C>T	uc002qne.3	-	6	2359	c.1568G>A	c.(1567-1569)gGa>gAa	p.G523E	ZNF667_uc010etl.3_Missense_Mutation_p.G305E|ZNF667_uc002qnd.3_Missense_Mutation_p.G523E|ZNF667_uc010etm.3_Missense_Mutation_p.G466E	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGGCTTCTCTCCAGTGTGAAT	0.433000														37			9		0	0	0.004482	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885086	88885087	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:88885086_88885087GG>AA	uc003ydz.3	-	0	1210_1211	c.1113_1114CC>TT	c.(1111-1116)cgcctc>cgTTtc	p.L372F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	372								p.R371H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGCCCCCGAGGCGAGAAGAGA	0.594000														52			4		0	0	0.004672	0	0
SPEN	23013	broad.mit.edu	37	1	16199550	16199550	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:16199550G>A	uc001axk.1	+	1	527	c.323G>A	c.(322-324)aGa>aAa	p.R108K	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	108					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTGGGTTCAGAGGAGGTGGT	0.527000														89			10		0	0	0.006214	0	0
FAM134A	79137	broad.mit.edu	37	2	220047132	220047132	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:220047132C>T	uc002vjw.4	+	8	1549	c.1413C>T	c.(1411-1413)ccC>ccT	p.P471P	FAM134A_uc010fwc.3_Silent_p.P264P|FAM134A_uc002vjx.3_Intron	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	471						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTGTTCCCCAGGACTCAC	0.617000														63			13		0	0	0.003163	0	0
MBTPS1	8720	broad.mit.edu	37	16	84129350	84129350	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:84129350G>A	uc002fhi.3	-	3	984	c.482C>T	c.(481-483)cCc>cTc	p.P161L		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	161					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	p.R160C(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTTCGCAGGGGACGTGATGA	0.592000														110			8		0	0	0.008291	0	0
ABCC6	368	broad.mit.edu	37	16	16278870	16278870	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:16278870G>C	uc002den.4	-	14	1926	c.1889C>G	c.(1888-1890)aCc>aGc	p.T630S	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.T642S	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	630	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ACTGTGTATGGTGATGCAATC	0.602000														68			9		0	0	0.008291	0	0
MPP7	143098	broad.mit.edu	37	10	28378716	28378716	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:28378716G>A	uc001iua.1	-	13	1411	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.S336F|MPP7_uc009xla.2_Missense_Mutation_p.S336F|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	336					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTCATACATGGATTTATTTGT	0.323000														56			17		0	0	0.004990	0	0
MGAM	8972	broad.mit.edu	37	7	141758086	141758086	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:141758086C>T	uc003vwy.3	+	30	3831	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1259	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCTGAGATCGCCAGCTTGT	0.498000														312			148		0	0	0.014410	0	0
CASR	846	broad.mit.edu	37	3	121981094	121981094	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:121981094C>T	uc003eew.4	+	3	1650	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	CASR_uc003eev.4_Silent_p.V404V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	404					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCAGCAGTGTCGAGACCCCTT	0.483000														69			9		0	0	0.006214	0	0
abParts	0	broad.mit.edu	37	14	106967211	106967211	+	RNA	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:106967211C>T	uc021ser.1	-	263		c.10289G>A								Parts of antibodies, mostly variable regions.																		TCCACTCAAGCCCTTGTCCAG	0.552000														91			15		0	0	0.003163	0	0
FYCO1	79443	broad.mit.edu	37	3	46009752	46009752	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:46009752C>T	uc011bal.1	-	6	1186	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	FYCO1_uc003cpb.4_Silent_p.L358L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	358					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTTTCTTGTCCAGTGAGTCCC	0.592000														120			29		0	0	0.008361	0	0
XIRP2	129446	broad.mit.edu	37	2	168100390	168100390	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:168100390A>T	uc002udx.3	+	8	2577	c.2488A>T	c.(2488-2490)Aag>Tag	p.K830*	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.K655*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.K608*|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	655					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						CATCATTGAAAAGGAAAAAAT	0.383000														53			7		0	0	0.003080	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298302	4298302	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:4298302G>A	uc002lzx.2	-	1	133	c.87C>T	c.(85-87)ccC>ccT	p.P29P	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Silent_p.P29P	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	29	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAAGTTGGGCCCCTGCT	0.617000														25			6		0	0	0.001168	0	0
SPNS1	83985	broad.mit.edu	37	16	28990507	28990507	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:28990507T>A	uc010vdi.1	+	4	616	c.476T>A	c.(475-477)cTg>cAg	p.L159Q	NPIPL1_uc010vct.2_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.L159Q|SPNS1_uc002drx.2_Missense_Mutation_p.L86Q|SPNS1_uc002dsa.2_Missense_Mutation_p.L159Q|SPNS1_uc002drz.2_Missense_Mutation_p.L159Q|SPNS1_uc010byp.2_Missense_Mutation_p.L137Q	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	159					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						ACCCGGGGCCTGGTGGGGGTC	0.662000														69			11		0	0	0.001855	0	0
MEP1B	4225	broad.mit.edu	37	18	29795045	29795045	+	Splice_Site	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:29795045A>G	uc002kxj.4	+	12	1627	c.1580_splice	c.e12-1	p.D527_splice		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	527	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCTTTTTCAGATAATGGAAAC	0.408000														110			13		0	0	0.003163	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891769	5891769	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:5891769G>A	uc002kmx.1	-	0	335	c.294C>T	c.(292-294)gtC>gtT	p.V98V		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	98						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CCGTGGTTGGGACCCGGTGGC	0.687000														60			12		0	0	0.002450	0	0
C1QB	713	broad.mit.edu	37	1	22987377	22987377	+	Missense_Mutation	SNP	G	A	A	rs3211003		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:22987377G>A	uc001bgd.3	+	2	392	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	87	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGAATCCAGGAAAAGTCGGC	0.622000														48			5		0	0	0.001168	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6522219	6522219	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:6522219G>A	uc001anh.3	-	8	875	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	TNFRSF25_uc001ana.3_Missense_Mutation_p.P71S|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Missense_Mutation_p.P27S|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Missense_Mutation_p.P254S|TNFRSF25_uc001anf.3_Missense_Mutation_p.P217S|TNFRSF25_uc001ang.3_Missense_Mutation_p.P209S	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	254					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTCCAAGGGTGACAGATGG	0.632000														79			9		0	0	0.006214	0	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:20249284C>T	uc010tku.2	+	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTCATTTTCCCTAGATAAA	0.418000														53			7		0	0	0.004482	0	0
SECISBP2	79048	broad.mit.edu	37	9	91954794	91954794	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:91954794C>T	uc004aqj.1	+	8	1308	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	SECISBP2_uc010mqo.1_Missense_Mutation_p.P115S|SECISBP2_uc004aqk.1_Missense_Mutation_p.P337S|SECISBP2_uc011ltk.1_Missense_Mutation_p.P409S|SECISBP2_uc011ltl.1_Missense_Mutation_p.P342S	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	410					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CGAGGAATTTCCCAACCTGGC	0.393000														58			10		0	0	0.002450	0	0
IFNA7	3444	broad.mit.edu	37	9	21201839	21201839	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:21201839G>A	uc003zop.1	-	0	366	c.326C>T	c.(325-327)tCc>tTc	p.S109F	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	109					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.F108L(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGTTCAGTGGAAAATTTTTC	0.493000														79			17		0	0	0.004990	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229995	140229995	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140229995G>A	uc003lhu.2	+	0	2639	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.E639K	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	650	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTGGACGAAACGGACGC	0.667000														54			10		0	0	0.006214	0	0
KCND2	3751	broad.mit.edu	37	7	119915597	119915597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:119915597C>T	uc003vjj.1	+	0	1876	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	304					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTTAAGTTTTCCCGCCACTCT	0.517000														48			33		0	0	0.003271	0	0
LRP1B	53353	broad.mit.edu	37	2	141128281	141128281	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:141128281C>T	uc002tvj.1	-	70	11978	c.11006G>A	c.(11005-11007)aGa>aAa	p.R3669K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3669					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCTTACCTCTTTCACAGTT	0.408000										TSP Lung(27;0.18)				19			4		0	0	0.009096	0	0
C15orf2	23742	broad.mit.edu	37	15	24922815	24922815	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:24922815C>T	uc001ywo.3	+	0	2275	c.1801C>T	c.(1801-1803)Cca>Tca	p.P601S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	601					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GAGCTCTCTCCCAAATTCCCA	0.468000														73			15		0	0	0.002450	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67560735	67560735	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:67560735G>A	uc001omt.4	-	3	362	c.339C>T	c.(337-339)aaC>aaT	p.N113N						Homo sapiens family with sequence similarity 86, member C2, pseudogene (FAM86C2P), non-coding RNA.																		TCATGACGAGGTTCCACTTCC	0.527000														93			21		0	0	0.012319	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95614188	95614188	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:95614188C>T	uc003uoc.4	+	7	970	c.693C>T	c.(691-693)ctC>ctT	p.L231L	DYNC1I1_uc003uod.4_Silent_p.L214L|DYNC1I1_uc003uob.3_Silent_p.L194L|DYNC1I1_uc003uoe.4_Silent_p.L211L|DYNC1I1_uc010lfl.3_Silent_p.L220L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	231					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGGAATTTCTCATCTTTTTTG	0.398000														61			6		0	0	0.001168	0	0
GLUD1	2746	broad.mit.edu	37	10	88818905	88818905	+	Splice_Site	SNP	A	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:88818905A>C	uc001keh.3	-	10	1652	c.1402_splice	c.e10+1	p.M468_splice	GLUD1_uc001keg.3_Splice_Site_p.M301_splice|GLUD1_uc010qmp.2_Splice_Site_p.M335_splice	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	468					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATCGATACTCACTGAGCAAGT	0.403000														128			25		0	0	0.005443	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800543	70800543	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:70800543C>T	uc003tvy.3	+	1	246	c.246C>T	c.(244-246)tcC>tcT	p.S82S	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	82						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGGCTTATCCAAATCCCTTG	0.468000														51			10		0	0	0.010729	0	0
KCNK5	8645	broad.mit.edu	37	6	39159209	39159209	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:39159209C>T	uc003oon.3	-	4	1321	c.957G>A	c.(955-957)ggG>ggA	p.G319G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	319					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCCCGTCTCCCCACCCCCGC	0.617000														98			13		0	0	0.001855	0	0
FAM20C	56975	broad.mit.edu	37	7	195668	195668	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:195668C>T	uc003sip.3	+	1	951	c.720C>T	c.(718-720)tcC>tcT	p.S240S		NM_020223	NP_064608	Q8IXL6	DMP4_HUMAN	Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA.	240						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		AGCTGTACTCCAGACACAACC	0.612000														65			8		0	0	0.003080	0	0
DHX37	57647	broad.mit.edu	37	12	125441678	125441678	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:125441678T>A	uc001ugy.3	-	16	2260	c.2161A>T	c.(2161-2163)Atc>Ttc	p.I721F		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	721							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.I721I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGAAGTTGATGACCTGGGAC	0.632000														89			10		0	0	0.010729	0	0
CCDC19	25790	broad.mit.edu	37	1	159842795	159842795	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:159842795C>T	uc001fui.3	-	10	1534	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.E421K|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	506						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTCTGGGCCTCCTCTTTGAGG	0.577000														70			12		0	0	0.010729	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446055	29446055	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:29446055C>T	uc003aeg.3	+	7	1886	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L	ZNRF3_uc021wnq.1_Missense_Mutation_p.P529L	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	629						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGCTCCCCGCCTCCCGAGGAG	0.741000														56			7		0	0	0.003080	0	0
NLRP14	338323	broad.mit.edu	37	11	7091610	7091610	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:7091610G>A	uc001mfb.1	+	10	3392	c.3069G>A	c.(3067-3069)caG>caA	p.Q1023Q		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	1023					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATCTGACACAGAATACCTTAG	0.383000														40			9		0	0	0.004482	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566752	45566752	+	Missense_Mutation	SNP	C	T	T	rs141368497		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:45566752C>T	uc010dnv.3	-	2	1229	c.793G>A	c.(793-795)Gac>Aac	p.D265N	ZBTB7C_uc002ldb.3_Missense_Mutation_p.D243N|ZBTB7C_uc010dnu.3_Missense_Mutation_p.D252N|ZBTB7C_uc010dnw.3_Missense_Mutation_p.D243N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D243N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D243N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D265N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D243N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D252N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D292N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D252N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D265N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D243N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D252N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D265N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D243N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D243N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D243N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D252N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D252N|ZBTB7C_uc010don.1_Missense_Mutation_p.D251N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D243N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D252N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D265N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D243N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D243N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D243N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D252N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	243						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCTCCTGTCGGGGATGTTG	0.612000														26			9		0	0	0.006214	0	0
UBR4	23352	broad.mit.edu	37	1	19465712	19465712	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:19465712G>A	uc001bbi.3	-	58	8600	c.8596C>T	c.(8596-8598)Cca>Tca	p.P2866S	UBR4_uc001bbk.1_Missense_Mutation_p.P513S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2866					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTGAGGCTGGAGCTGAGAGA	0.498000														47			10		0	0	0.008291	0	0
IGSF21	84966	broad.mit.edu	37	1	18554492	18554492	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:18554492C>T	uc001bau.2	+	1	554	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	57	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGCGGGAGATCGTGTGGTACC	0.587000														49			7		0	0	0.003080	0	0
ZNF536	9745	broad.mit.edu	37	19	30935657	30935657	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:30935657C>T	uc002nsu.1	+	1	1326	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	ZNF536_uc010edd.1_Silent_p.L396L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGTCCACCTCAACAAGCTGT	0.607000														50			16		0	0	0.004007	0	0
ADCY8	114	broad.mit.edu	37	8	131921973	131921973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:131921973C>T	uc003ytd.4	-	5	1877	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	ADCY8_uc010mds.3_Missense_Mutation_p.E541K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	541					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.L540L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTCCAGATTCGAGTTTGTTT	0.463000										HNSCC(32;0.087)				182			27		0	0	0.010818	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248760	140248760	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140248760G>T	uc003lia.2	+	0	930	c.72G>T	c.(70-72)tgG>tgT	p.W24C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.W24C	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	37					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAATTCTGGGAGGTGGGGA	0.602000														108			20		2.39556e-15	3.72892e-15	0.002780	1	0
PLXNA4	91584	broad.mit.edu	37	7	131844263	131844263	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:131844263G>A	uc003vra.4	-	24	4858	c.4629C>T	c.(4627-4629)tcC>tcT	p.S1543S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1543						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGGCCGGTGGGAGCAAGGCA	0.552000														289			28		0	0	0.009535	0	0
OR6C2	341416	broad.mit.edu	37	12	55846720	55846720	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:55846720C>T	uc001sgz.1	+	0	723	c.723C>T	c.(721-723)tcC>tcT	p.S241S		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTGTTCATCCCACATGATTG	0.418000														52			6		0	0	0.001168	0	0
NUP85	79902	broad.mit.edu	37	17	73227516	73227516	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:73227516C>T	uc002jng.1	+	11	1436	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	NUP85_uc010wrv.1_Silent_p.L346L|NUP85_uc002jnh.1_5'UTR	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	392					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CACACAACCTCTAGTAAGTGG	0.592000														83			12		0	0	0.010729	0	0
CROCC	9696	broad.mit.edu	37	1	17263330	17263330	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:17263330G>A	uc001azt.2	+	8	1224	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	CROCC_uc009voy.1_Silent_p.Q88Q|CROCC_uc009voz.1_Silent_p.Q148Q	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	385					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCAGCAGCAGATGCAAAGCG	0.647000														68			6		0	0	0.001984	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431762	26431762	+	Silent	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:26431762T>C	uc011dkl.1	+	5	1710	c.1680T>C	c.(1678-1680)agT>agC	p.S560S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		GCTTTAGTAGTTCCTTTGGTT	0.502000														133			16		0	0	0.006122	0	0
STC1	6781	broad.mit.edu	37	8	23711947	23711947	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:23711947C>T	uc003xdw.1	-	0	374	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	30					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTCGGGATTTCCTGGGGCTCA	0.532000														75			13		0	0	0.013537	0	0
TSG101	7251	broad.mit.edu	37	11	18528434	18528434	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:18528434G>A	uc001mor.3	-	5	658	c.518C>T	c.(517-519)cCa>cTa	p.P173L	TSG101_uc001mos.2_Missense_Mutation_p.P121L|TSG101_uc009yhs.2_Non-coding_Transcript	NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	173					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GGATGGGTATGGAGAGATTCC	0.343000														84			12		0	0	0.004007	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27783082	27783082	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:27783082C>T	uc003njo.3	+	0	261	c.261C>T	c.(259-261)cgC>cgT	p.R87R	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	Homo sapiens histone cluster 1, H2bm (HIST1H2BM), mRNA.	87					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R87C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						ACAACAAGCGCTCGACCATCA	0.592000														46			7		0	0	0.003080	0	0
JAK3	3718	broad.mit.edu	37	19	17951087	17951087	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:17951087G>A	uc002nhn.4	-	8	1306	c.1206C>T	c.(1204-1206)cgC>cgT	p.R402R	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Silent_p.R402R|JAK3_uc010xpx.1_Silent_p.R402R	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	402	SH2; atypical.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGGGGCTGCGGCGGAGAACAT	0.602000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									28			4		0	0	0.000602	0	0
PPYR1	5540	broad.mit.edu	37	10	47087212	47087212	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:47087212C>T	uc001jee.3	+	2	848	c.429C>T	c.(427-429)atC>atT	p.I143I	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.I143I|PPYR1_uc021ppu.1_Silent_p.I143I	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	143					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.L142L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATCAGCTCATCATCAACCCAA	0.597000														205			18		0	0	0.008871	0	0
EVPL	2125	broad.mit.edu	37	17	74005599	74005599	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:74005599C>T	uc010wss.1	-	21	3981	c.3753G>A	c.(3751-3753)aaG>aaA	p.K1251K	EVPL_uc002jqi.2_Silent_p.K1229K|EVPL_uc010wst.1_Silent_p.K699K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1229	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTCCACCTCCTTCTCCACAC	0.627000														83			7		0	0	0.001984	0	0
BCL7B	9275	broad.mit.edu	37	7	72954261	72954261	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:72954261G>A	uc003tyf.2	-	3	544	c.387C>T	c.(385-387)ttC>ttT	p.F129F	BCL7B_uc010lbf.2_Non-coding_Transcript|BCL7B_uc003tye.2_Non-coding_Transcript|BCL7B_uc003tyg.2_Intron	NM_001707	NP_001698	Q9BQE9	BCL7B_HUMAN	Homo sapiens B-cell CLL/lymphoma 7B (BCL7B), transcript variant 1, mRNA.	129							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATCCGTGCGGAAGTCGGAGG	0.612000														39			4		0	0	0.000602	0	0
SRRM2	23524	broad.mit.edu	37	16	2815608	2815608	+	Silent	SNP	A	C	C	rs142684862	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:2815608A>C	uc002crk.3	+	10	5628	c.5079A>C	c.(5077-5079)tcA>tcC	p.S1693S	SRRM2_uc002crj.1_Silent_p.S1597S|SRRM2_uc002crl.1_Silent_p.S1693S|SRRM2_uc010bsu.1_Silent_p.S1597S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1693	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCTCTCGATCATCTCCGGAGC	0.572000														28			7		0	0	0.001984	0	0
OR13D1	286365	broad.mit.edu	37	9	107457503	107457503	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:107457503G>A	uc011lvs.2	+	0	801	c.801G>A	c.(799-801)aaG>aaA	p.K267K		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						AGGGAAGAAAGAAAGCCTTCT	0.378000														81			15		0	0	0.002450	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963571	39963571	+	Splice_Site	SNP	T	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:39963571T>A	uc002olo.4	+	22	2334	c.2155_splice	c.e22+2	p.G719_splice	SUPT5H_uc002olp.4_Splice_Site_p.G719_splice|SUPT5H_uc002olq.4_Splice_Site_p.G715_splice|SUPT5H_uc002oln.4_Splice_Site_p.G719_splice|SUPT5H_uc002olr.4_Splice_Site_p.G719_splice|SUPT5H_uc002ols.1_Splice_Site_p.G342_splice|SUPT5H_uc010egp.1_Splice_Site_p.G85_splice	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	719	KOW 5.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTACAAAGGTGACCTGCGAG	0.677000														28			4		0	0	0.000602	0	0
EDC4	23644	broad.mit.edu	37	16	67916928	67916928	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:67916928G>A	uc002eur.3	+	26	3936	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	EDC4_uc010cer.3_Missense_Mutation_p.E852K|EDC4_uc002eus.3_Missense_Mutation_p.E963K|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	1233					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCGCTCAAGGAGCAGCAGGC	0.607000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			4		0	0	0.001168	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049314	36049314	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:36049314C>T	uc003jjz.2	-	3	652	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	UGT3A2_uc011cos.2_Missense_Mutation_p.E140K|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	174						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCCAAATTCCAAAGAGCCG	0.448000														37			4		0	0	0.009096	0	0
FAM162B	221303	broad.mit.edu	37	6	117086375	117086375	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:117086375G>A	uc003pxi.2	-	1	363	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	Homo sapiens family with sequence similarity 162, member B (FAM162B), mRNA.	72						integral to membrane				large_intestine(2)|lung(4)	6						TTTTCTTGTCGAACTGCGAAG	0.617000														44			8		0	0	0.006214	0	0
CCDC146	57639	broad.mit.edu	37	7	76922443	76922443	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:76922443G>A	uc003uga.3	+	17	2717	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	CCDC146_uc010ldp.3_Missense_Mutation_p.E578K|CCDC146_uc003ugc.3_Missense_Mutation_p.E201K	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	864										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACTCAATAAGGAAATTGAGAA	0.433000														98			13		0	0	0.013537	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22855144	22855144	+	Silent	SNP	C	T	T	rs61738868	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:22855144C>T	uc001yuq.2	+	12	1735	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	TUBGCP5_uc001yur.4_Silent_p.S535S|TUBGCP5_uc010axz.1_Silent_p.S122S	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	535					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTGCGAGTTCCGGCAGTGACC	0.478000														48			12		0	0	0.013537	0	0
CFH	3075	broad.mit.edu	37	1	196646616	196646616	+	Silent	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:196646616T>C	uc001gtj.4	+	4	678	c.438T>C	c.(436-438)tgT>tgC	p.C146C	CFH_uc001gti.4_Silent_p.C146C|CFH_uc009wyw.3_Silent_p.C146C|CFH_uc009wyx.3_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	146	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGTGAAGTGTTTACCAGTGA	0.338000														22			5		0	0	0.001168	0	0
PTPRS	5802	broad.mit.edu	37	19	5246048	5246048	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:5246048C>T	uc002mbv.3	-	9	961	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	PTPRS_uc002mbu.1_Missense_Mutation_p.V230M|PTPRS_uc010xin.2_Missense_Mutation_p.V230M|PTPRS_uc002mbw.3_Missense_Mutation_p.V230M|PTPRS_uc002mbx.3_Missense_Mutation_p.V234M|PTPRS_uc002mby.3_Missense_Mutation_p.V230M	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	243					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGCGGGGCCACGCGGCGGACT	0.677000														9			4		0	0	0.009096	0	0
RTEL1	51750	broad.mit.edu	37	20	62316916	62316917	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:62316916_62316917CC>TT	uc021wge.1	+	13	1402_1403	c.1232_1233CC>TT	c.(1231-1233)tcc>tTT	p.S411F	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.S411F|RTEL1_uc011abd.2_Missense_Mutation_p.S435F|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.S188F	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	411					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGCCCTGGTTCCCCAGCAGGGC	0.653000														36			10		0	0	0.004672	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38413339	38413339	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:38413339G>A	uc004aba.3	-	2	605	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	194	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		TGCCCTCAGGGGACTTCGTGA	0.582000														44			11		0	0	0.010729	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73148985	73148985	+	Silent	SNP	T	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:73148985T>G	uc003hgk.2	-	21	3523	c.3486A>C	c.(3484-3486)tcA>tcC	p.S1162S		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1162					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGCCATTTGTGAAGCTGAAC	0.502000														118			21		0	0	0.014323	0	0
VEGFC	7424	broad.mit.edu	37	4	177605173	177605173	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:177605173C>T	uc003ius.1	-	6	1597	c.1167G>A	c.(1165-1167)acG>acA	p.T389T		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	389					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCTGGCGGTTCGTACATGGCC	0.418000														51			9		0	0	0.004482	0	0
LRTM1	57408	broad.mit.edu	37	3	54952855	54952855	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:54952855C>T	uc003dhl.3	-	2	803	c.669G>A	c.(667-669)agG>agA	p.R223R	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	223	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CATGAGGGATCCTAAGGAGGT	0.547000														20			9		0	0	0.008291	0	0
KCND3	3752	broad.mit.edu	37	1	112524544	112524544	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:112524544G>A	uc001ebu.1	-	1	1285	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	KCND3_uc001ebv.1_Missense_Mutation_p.P269S	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	269						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGTAGTAGGGCATGATGGCC	0.602000														81			16		0	0	0.004007	0	0
HMP19	51617	broad.mit.edu	37	5	173491276	173491276	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:173491276G>C	uc003mcx.3	+	2	316	c.171G>C	c.(169-171)aaG>aaC	p.K57N		NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Homo sapiens HMP19 protein (HMP19), mRNA.	57					dopamine receptor signaling pathway	Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)	15	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGGAACAGAAGAACAAAGGGA	0.448000														64			8		0	0	0.003080	0	0
TCRA	0	broad.mit.edu	37	14	22616402	22616402	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:22616402C>T	uc010ajk.2	+	1	229	c.143C>T	c.(142-144)tCc>tTc	p.S48F	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		AGTGTTTTTTCCAGCTTACAA	0.507000														15			12		0	0	0.001855	0	0
OR1M1	125963	broad.mit.edu	37	19	9204418	9204418	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:9204418C>T	uc010xkj.2	+	0	498	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165S(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGGCCCGTCTCGTTTTCTGCG	0.577000														115			23		0	0	0.004656	0	0
SMG5	23381	broad.mit.edu	37	1	156233251	156233251	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:156233251G>A	uc001foc.4	-	12	2115	c.1966C>T	c.(1966-1968)Cct>Tct	p.P656S		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	656					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCACAGCAGGAAGCAGACCT	0.602000														95			7		0	0	0.003080	0	0
NPEPPS	9520	broad.mit.edu	37	17	45668159	45668159	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:45668159C>T	uc002ilr.4	+	9	1395	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L	NPEPPS_uc010wkt.2_Missense_Mutation_p.P387L|NPEPPS_uc010wku.2_Missense_Mutation_p.P355L|NPEPPS_uc010wkv.2_5'UTR	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	391					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	p.P391S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CACTGCTTCCCAGAGTATGAT	0.413000														128			9		0	0	0.006214	0	0
GMEB1	10691	broad.mit.edu	37	1	29041063	29041063	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:29041063G>A	uc001bra.3	+	9	1642	c.1500G>A	c.(1498-1500)atG>atA	p.M500I	GMEB1_uc001bqz.3_Missense_Mutation_p.M490I|GMEB1_uc001brb.3_Missense_Mutation_p.M490I	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGCCATGGAGTCCGGCC	0.557000														47			6		0	0	0.003080	0	0
SUPT16H	11198	broad.mit.edu	37	14	21836515	21836516	+	Silent	DNP	AA	GT	GT			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:21836515_21836516AA>GT	uc001wao.2	-	6	1206_1207	c.867_868TT>AC	c.(865-870)actttg>acACtg	p.289_290TL>TL		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	289					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCAACCATCAAAGTGCGAACAA	0.426000														50			7		0	0	0.004672	0	0
VTCN1	79679	broad.mit.edu	37	1	117690362	117690362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:117690362G>A	uc001ehb.3	-	4	872	c.767C>T	c.(766-768)tCa>tTa	p.S256L	VTCN1_uc021osn.1_Missense_Mutation_p.S161L|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.S161L|VTCN1_uc009whf.2_Missense_Mutation_p.S140L	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	256						integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGAAGCCTTTGAGTTTAGCAG	0.468000														61			13		0	0	0.003163	0	0
LONRF2	164832	broad.mit.edu	37	2	100903447	100903447	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:100903447G>A	uc002tal.4	-	10	2639	c.1999C>T	c.(1999-2001)Ctc>Ttc	p.L667F	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	667	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CGATCCTGGAGAGACGCGAAC	0.478000														37			9		0	0	0.004482	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741003	140741003	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140741003C>T	uc003ljs.2	+	0	1301	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.S434F|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L434I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTCTCCTCCAGCATAATT	0.537000														101			12		0	0	0.002450	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032901	82032901	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:82032901C>T	uc002fgu.3	-	2	1125	c.997G>A	c.(997-999)Gag>Aag	p.E333K		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	333					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TAACCTAGCTCTTTCTTGGCT	0.463000														110			12		0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179536776	179536776	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:179536776C>T	uc021vsy.1	-	149	31471	c.31246G>A	c.(31246-31248)Gaa>Aaa	p.E10416K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E7077K|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11343	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAACTTTTTCAACTCTGTGT	0.338000														63			6		0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238274679	238274679	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:238274679C>T	uc002vwl.2	-	12	5786	c.5501_splice	c.e12-1	p.A1834_splice	COL6A3_uc002vwo.2_Splice_Site_p.A1628_splice|COL6A3_uc010znj.1_Splice_Site_p.A1227_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1834	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGATTACAAGCTGGAAAGGAG	0.512000														60			7		0	0	0.001984	0	0
GLG1	2734	broad.mit.edu	37	16	74505106	74505106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:74505106C>T	uc002fcx.3	-	14	2244	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	GLG1_uc002fcw.4_Missense_Mutation_p.E721K|GLG1_uc002fcy.4_Missense_Mutation_p.E732K|GLG1_uc002fcz.4_Missense_Mutation_p.E149K	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	732						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCACACTTCTCGTTCATGTCC	0.498000														229			25		0	0	0.003330	0	0
KMO	8564	broad.mit.edu	37	1	241753362	241753362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:241753362G>A	uc009xgp.3	+	12	1458	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	KMO_uc001hyy.3_Missense_Mutation_p.E410K|KMO_uc009xgo.2_Missense_Mutation_p.E423K	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	383					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GAAGAACATGGAGAGATTTCT	0.378000														76			8		0	0	0.006214	0	0
STAB2	55576	broad.mit.edu	37	12	104069737	104069737	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:104069737G>A	uc001tjw.3	+	23	2770	c.2584G>A	c.(2584-2586)Gga>Aga	p.G862R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	862	EGF-like 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGAAGGAGATGGAACTCTGTG	0.502000														47			5		0	0	0.000602	0	0
ASH1L	55870	broad.mit.edu	37	1	155324386	155324386	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:155324386C>T	uc009wqq.3	-	15	7586	c.7106G>A	c.(7105-7107)cGa>cAa	p.R2369Q	ASH1L_uc001fkt.3_Missense_Mutation_p.R2364Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2369					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCCCAGTTTCGGACCAAGAA	0.368000														121			21		0	0	0.010504	0	0
UTP20	27340	broad.mit.edu	37	12	101755810	101755810	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:101755810T>C	uc001tia.1	+	43	5918	c.5762T>C	c.(5761-5763)tTg>tCg	p.L1921S		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1921					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTCGGAGATTTGGACTCTTGT	0.398000														148			24		0	0	0.003330	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354695	45354696	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:45354695_45354696CC>TT	uc002xsl.3	+	1	1117_1118	c.1020_1021CC>TT	c.(1018-1023)ggcctc>ggTTtc	p.L341F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	341						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGCAGACAGGCCTCCCTGGAGA	0.599000														63			10		0	0	0.004672	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716383	13716383	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:13716383C>T	uc001rbt.2	-	12	3968	c.3789G>A	c.(3787-3789)ctG>ctA	p.L1263L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1263					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGGCTGGTCCAGTTCCTGCA	0.592000														71			16		0	0	0.004007	0	0
DNAH2	146754	broad.mit.edu	37	17	7696092	7696092	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:7696092G>A	uc002giu.1	+	45	7277	c.7263G>A	c.(7261-7263)ggG>ggA	p.G2421G		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2421	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGGGACTGGGAAGACCTCCA	0.617000														34			6		0	0	0.001984	0	0
KRT25	147183	broad.mit.edu	37	17	38907296	38907296	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:38907296G>A	uc002hve.3	-	4	928	c.867C>T	c.(865-867)gtC>gtT	p.V289V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	289	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGTGGCTCCGACATCCTCAG	0.483000														55			7		0	0	0.004482	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837259	12837259	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:12837259G>A	uc001aui.3	+	2	996	c.969G>A	c.(967-969)gaG>gaA	p.E323E		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	323										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTAAAAGAGCTAGACCTGA	0.577000														95			20		0	0	0.012319	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731844	140731844	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140731844G>A	uc003ljo.2	+	0	2017	c.2017G>A	c.(2017-2019)Gac>Aac	p.D673N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Missense_Mutation_p.D673N|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTCAGCGACCGCCCTGA	0.607000														150			26		0	0	0.004656	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698539	103698539	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:103698539C>T	uc001vpy.4	-	5	1588	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	331					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.T330M(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GACTCTGGCTCCGTTCCATTT	0.373000														30			5		0	0	0.001168	0	0
GSTM5	2949	broad.mit.edu	37	1	110256339	110256339	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:110256339G>A	uc001dyn.3	+	4	387	c.316G>A	c.(316-318)Gat>Aat	p.D106N	GSTM5_uc010ovu.1_Missense_Mutation_p.D65N	NM_000851	NP_000842	P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	106	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCAGGTTATGGATAACCACAT	0.522000														30			4		0	0	0.009096	0	0
ALOX15B	247	broad.mit.edu	37	17	7950312	7950312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:7950312G>A	uc002gju.3	+	9	1491	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	ALOX15B_uc002gjv.3_Missense_Mutation_p.D430N|ALOX15B_uc002gjw.3_Missense_Mutation_p.D430N|ALOX15B_uc010vun.2_Missense_Mutation_p.D459N|ALOX15B_uc010cnp.3_Missense_Mutation_p.D265N	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	459	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCTGCCTGAGGATATCCGGAC	0.547000														63			10		0	0	0.008291	0	0
HYAL4	23553	broad.mit.edu	37	7	123509071	123509071	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:123509071C>T	uc003vlc.3	+	2	1382	c.744C>T	c.(742-744)ctC>ctT	p.L248L	HYAL4_uc011knz.2_Silent_p.L248L	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	248					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACAATGAGCTCTCTTGGCTCT	0.443000														142			7		0	0	0.001984	0	0
ERCC4	2072	broad.mit.edu	37	16	14029275	14029275	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:14029275C>T	uc002dce.2	+	7	1495	c.1486C>T	c.(1486-1488)Caa>Taa	p.Q496*	ERCC4_uc010uyz.1_Nonsense_Mutation_p.Q46*	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	496					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GACCTTAACTCAAATGGTAGG	0.428000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					17			4		0	0	0.009096	0	0
CCDC30	728621	broad.mit.edu	37	1	43021893	43021893	+	Silent	SNP	A	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:43021893A>C	uc009vwk.1	+	4	602	c.492A>C	c.(490-492)ccA>ccC	p.P164P	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Intron	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	164										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCAGTTTTCCAAGAGAGGGGC	0.413000														38			4		0	0	0.009096	0	0
MLL2	8085	broad.mit.edu	37	19	36221442	36221442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:36221442C>T	uc021usv.1	+	24	5201	c.5201C>T	c.(5200-5202)tCc>tTc	p.S1734F	MLL2_uc021usu.1_Missense_Mutation_p.S548F	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5182					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q1734*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ACCACAGGTTCCATCCGCATT	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				325			45		0	0	0.014410	0	0
VPS13B	157680	broad.mit.edu	37	8	100160116	100160116	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:100160116C>T	uc003yiv.3	+	13	2002	c.1891C>T	c.(1891-1893)Ctt>Ttt	p.L631F	VPS13B_uc003yiw.3_Missense_Mutation_p.L631F|VPS13B_uc003yit.3_Missense_Mutation_p.L631F|VPS13B_uc003yiu.1_Missense_Mutation_p.L631F|VPS13B_uc003yix.1_Missense_Mutation_p.L102F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	631					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAGGTGGCTCTTCTGGAGGA	0.303000														52			18		0	0	0.007413	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347827	38347827	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:38347827C>T	uc003cib.2	+	0	383	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	SLC22A14_uc010hhc.1_Silent_p.L104L|SLC22A14_uc003cia.2_Silent_p.L104L|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	104						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CAGCTGGATCCTGGCAGTGGG	0.537000														84			11		0	0	0.008291	0	0
CXCR7	57007	broad.mit.edu	37	2	237489144	237489144	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:237489144G>A	uc021vys.1	+	0	36	c.36G>A	c.(34-36)ggG>ggA	p.G12G	CXCR7_uc010fyq.3_Silent_p.G12G|CXCR7_uc002vwd.3_Silent_p.G12G	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	12					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CAGAGCCAGGGAACTTCTCGG	0.507000														65			5		0	0	0.000602	0	0
NRXN2	9379	broad.mit.edu	37	11	64418075	64418075	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:64418075G>A	uc021qkw.1	-	14	3416	c.2954C>T	c.(2953-2955)cCg>cTg	p.P985L	NRXN2_uc021qkx.1_Missense_Mutation_p.P945L|NRXN2_uc001oas.3_Missense_Mutation_p.P945L|NRXN2_uc001oaq.3_Missense_Mutation_p.P652L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	985	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CATCAAGGACGGGCCATTCCC	0.587000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			17		0	0	0.012319	0	0
SVEP1	79987	broad.mit.edu	37	9	113169844	113169844	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:113169844G>A	uc010mtz.3	-	37	8373	c.8036C>T	c.(8035-8037)aCc>aTc	p.T2679I	SVEP1_uc010mty.3_Missense_Mutation_p.T605I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2679	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAAACCATGGTACCATACAG	0.473000														185			38		0	0	0.005524	0	0
ABCA12	26154	broad.mit.edu	37	2	215831615	215831615	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:215831615G>A	uc002vew.3	-	38	6061	c.5841C>T	c.(5839-5841)ttC>ttT	p.F1947F	ABCA12_uc002vev.3_Silent_p.F1629F|ABCA12_uc010zjn.2_Silent_p.F874F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1947					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCGCAGAAGGAAATTATTCA	0.383000														41			5		0	0	0.001168	0	0
SLC9C1	285335	broad.mit.edu	37	3	111901020	111901020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:111901020G>A	uc003dyu.3	-	20	2831	c.2609C>T	c.(2608-2610)cCg>cTg	p.P870L	SLC9C1_uc011bhu.2_Missense_Mutation_p.P133L|SLC9C1_uc010hqc.3_Missense_Mutation_p.P822L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	870					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATCTAGCCACGGAATATGATA	0.259000														75			12		0	0	0.013537	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12980108	12980108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:12980108G>A	uc001aup.3	+	3	1383	c.1300G>A	c.(1300-1302)Gct>Act	p.A434T		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	434												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACTTGGGGCTGAGCTGAT	0.587000														35			14		0	0	0.004007	0	0
abParts	0	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:22473063C>T	uc001yuj.2	-	6		c.265G>A								Parts of antibodies, mostly variable regions.																		TGATAGATTTCCCCAATCCAC	0.567000														156			14		0	0	0.002450	0	0
AGTR2	186	broad.mit.edu	37	X	115303705	115303705	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:115303705G>A	uc022cdd.1	+	0	172	c.172G>A	c.(172-174)Gga>Aga	p.G58R	AGTR2_uc004eqh.4_Missense_Mutation_p.G58R	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	58					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ATTTGTAATTGGATTTCTGGT	0.363000														18			6		0	0	0.001168	0	0
ODF4	146852	broad.mit.edu	37	17	8243413	8243413	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:8243413G>A	uc002gle.1	+	0	226	c.44G>A	c.(43-45)gGa>gAa	p.G15E		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	15					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						AGGTCAGAAGGAGAAAGAGAC	0.542000														57			6		0	0	0.004482	0	0
PLS1	5357	broad.mit.edu	37	3	142430824	142430824	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:142430824G>A	uc010huv.3	+	15	2024	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	PLS1_uc003euz.3_Missense_Mutation_p.G622E|PLS1_uc003eva.3_Missense_Mutation_p.G622E	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	622	Actin-binding 2.|CH 4.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGCTTAATGGGAAAAGGACTG	0.388000														85			18		0	0	0.008871	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107210	120107210	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:120107210C>T	uc003icp.4	+	5	863	c.650C>T	c.(649-651)cCc>cTc	p.P217L		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	217							protein phosphatase 2B binding	p.D216Y(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTAACAGATCCCAGGTTTATG	0.398000														62			11		0	0	0.008291	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451751	37451751	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:37451751G>A	uc021ppc.1	+	16	1908	c.1809G>A	c.(1807-1809)ttG>ttA	p.L603L	ANKRD30A_uc001iza.1_Silent_p.L603L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	659						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTGGAATTGAAAAATGAAC	0.328000														99			16		0	0	0.006122	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668661	176668661	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176668661G>A	uc001gkz.3	+	7	4336	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1058					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTTCTCCGCGATCCCCCATT	0.552000														154			20		0	0	0.012319	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221567	140221567	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140221567G>A	uc003lhs.2	+	0	661	c.661G>A	c.(661-663)Gag>Aag	p.E221K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E221K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	236	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAAACCTGAGCTCACAGG	0.468000														47			10		0	0	0.008291	0	0
CRB1	23418	broad.mit.edu	37	1	197396679	197396679	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:197396679T>C	uc001gtz.3	+	6	2433	c.2224T>C	c.(2224-2226)Ttt>Ctt	p.F742L	CRB1_uc010poz.2_Missense_Mutation_p.F673L|CRB1_uc009wza.3_Missense_Mutation_p.F630L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.F223L|CRB1_uc001gub.1_Missense_Mutation_p.F391L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	742	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTCTCCATGTTTGTCCGAAC	0.473000														32			4		0	0	0.009096	0	0
OR5M10	390167	broad.mit.edu	37	11	56344634	56344634	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:56344634G>A	uc001niz.1	-	0	564	c.564C>T	c.(562-564)gcC>gcT	p.A188A	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGTCAGAGCAGGCCAGCATGA	0.448000														56			17		0	0	0.004007	0	0
abParts	0	broad.mit.edu	37	14	106967407	106967407	+	RNA	SNP	T	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:106967407T>A	uc021ser.1	-	263		c.10093A>T								Parts of antibodies, mostly variable regions.																		AAAAAATCCCTTCCTCAGCCC	0.552000														55			12		0	0	0.002450	0	0
GRN	2896	broad.mit.edu	37	17	42427699	42427699	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:42427699C>T	uc002igp.1	+	4	672	c.453C>T	c.(451-453)ccC>ccT	p.P151P	GRN_uc002igq.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	151					signal transduction	extracellular space	cytokine activity|growth factor activity	p.P151L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGTGCTGCCCCATGCCCCAGG	0.617000														90			23		0	0	0.014323	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356917	67356917	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:67356917C>T	uc003xwb.4	+	4	321	c.287C>T	c.(286-288)tCc>tTc	p.S96F	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.S48F|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.S26F|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	96					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTATGGATTCCCTAGTGAAG	0.403000														175			24		0	0	0.009535	0	0
TIE1	7075	broad.mit.edu	37	1	43778085	43778085	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:43778085C>T	uc001ciu.3	+	11	1917	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	TIE1_uc010okd.2_Silent_p.F580F|TIE1_uc010oke.2_Silent_p.F535F|TIE1_uc009vwq.3_Silent_p.F536F|TIE1_uc010okf.1_Silent_p.F225F|TIE1_uc010okg.2_Silent_p.F225F	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	580	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGACGGTTTCCTGCTGCGCC	0.701000														62			11		0	0	0.010729	0	0
C1orf55	163859	broad.mit.edu	37	1	226183064	226183064	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:226183064G>A	uc001hpu.4	-	1	194	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	47										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					ATTTCACAAAGAAGTTTTCCA	0.383000														45			8		0	0	0.006214	0	0
ZNF85	7639	broad.mit.edu	37	19	21131569	21131569	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:21131569C>T	uc002npg.4	+	3	397	c.249C>T	c.(247-249)gcC>gcT	p.A83A	ZNF85_uc010ecn.3_Silent_p.A18A|ZNF85_uc010eco.3_Silent_p.A31A|ZNF85_uc002npi.3_Silent_p.A24A	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	83						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTCATTTTGCCCAAGACCTTT	0.299000														50			4		0	0	0.000602	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529202	24529203	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:24529202_24529203CC>TT	uc001wlj.2	+	22	2049_2050	c.1892_1893CC>TT	c.(1891-1893)tcc>tTT	p.S631F	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	631										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CGCTTCATGTCCTTCCCCGTGA	0.649000														97			14		0	0	0.004672	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617323	183617323	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:183617323G>A	uc021pgc.1	-	0	594	c.594C>T	c.(592-594)ctC>ctT	p.L198L	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.3_Intron|RGL1_uc010pog.2_Intron|RGL1_uc010poh.2_Intron|APOBEC4_uc001gqn.3_Silent_p.L198L	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) (APOBEC4), mRNA.	198					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.L198I(1)|p.V197F(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TAAAGCTGTGGAGAACAGAAT	0.512000														74			9		0	0	0.008291	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868460	22868460	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:22868460G>A	uc002zwe.3	-	1	1748	c.1495C>T	c.(1495-1497)Cag>Tag	p.Q499*	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Nonsense_Mutation_p.Q499*	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATCCTGGCTGAACTGAAGTT	0.413000														76			9		0	0	0.004482	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981702	61981702	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:61981702C>T	uc002yes.2	-	4	1239	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	CHRNA4_uc002yet.1_Missense_Mutation_p.R178H|CHRNA4_uc010gke.1_Missense_Mutation_p.R283H|CHRNA4_uc002yev.1_Missense_Mutation_p.R178H|CHRNA4_uc010gkf.1_Missense_Mutation_p.R178H	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	354					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GAGGAGCAGGCGTGGCACGAT	0.637000														50			7		0	0	0.004482	0	0
GALNT8	26290	broad.mit.edu	37	12	4829910	4829910	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:4829910C>T	uc001qne.1	+	0	159	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	23						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L23F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGCTGTCAATCTCCTTCTGGT	0.507000														90			20		0	0	0.010504	0	0
FOLH1	2346	broad.mit.edu	37	11	49208318	49208318	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:49208318C>T	uc001ngy.3	-	4	778	c.517G>A	c.(517-519)Gat>Aat	p.D173N	FOLH1_uc009yly.3_Missense_Mutation_p.D158N|FOLH1_uc009ylz.3_Missense_Mutation_p.D158N|FOLH1_uc001ngz.3_Missense_Mutation_p.D173N|FOLH1_uc009yma.3_5'UTR	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	173					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACACTAGATCGCCCTGTTGA	0.393000														73			12		0	0	0.002450	0	0
C19orf45	374877	broad.mit.edu	37	19	7573206	7573206	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:7573206C>T	uc002mgm.2	+	8	1549	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	470										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACTGAAAAATCCTCAGGAGGG	0.607000														34			5		0	0	0.001168	0	0
MPP7	143098	broad.mit.edu	37	10	28420551	28420551	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:28420551C>T	uc001iua.1	-	7	789	c.385G>A	c.(385-387)Gat>Aat	p.D129N	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.D129N|MPP7_uc009xla.2_Missense_Mutation_p.D129N|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	129					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCGTCAATATCTTCAGGCATA	0.393000														72			12		0	0	0.013537	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393608	145393608	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:145393608C>T	uc003lnt.3	+	4	1281	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S348F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	348							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGTTCCTTCCAGCTGTGTG	0.527000														61			7		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13850769	13850769	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:13850769G>A	uc003jfd.2	-	30	5148	c.5106C>T	c.(5104-5106)tcC>tcT	p.S1702S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1702	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCCAGTAAGGGATTTCTGGC	0.463000									Kartagener syndrome					36			5		0	0	0.001168	0	0
SYT11	23208	broad.mit.edu	37	1	155837946	155837946	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:155837946C>T	uc001fmg.3	+	1	518	c.225C>T	c.(223-225)atC>atT	p.I75I	SYT11_uc010pgq.2_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	75						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGAAGAAAATCATCAAAGTGC	0.507000														97			26		0	0	0.003330	0	0
ZNF560	147741	broad.mit.edu	37	19	9577806	9577806	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:9577806C>T	uc002mlp.1	-	9	2027	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E	ZNF560_uc010dwr.1_Missense_Mutation_p.G500E	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GAAGGCTTTTCCACATTTCTT	0.408000														74			14		0	0	0.003163	0	0
GRK7	131890	broad.mit.edu	37	3	141499546	141499546	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:141499546C>T	uc011bnd.2	+	1	1027	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	315	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCGTCTATCGGGACATGAA	0.587000														39			10		0	0	0.008291	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391717	22391717	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:22391717G>A	uc001mqk.3	+	7	1437	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	342					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAAGTCTTTGGATTTGAAAT	0.299000														61			7		0	0	0.003080	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703213	156703213	+	Silent	SNP	G	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:156703213G>T	uc001fpu.3	+	4	1171	c.537G>T	c.(535-537)gtG>gtT	p.V179V	RRNAD1_uc001fpv.3_Silent_p.V179V	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	179						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGTTGATGGTGAAGAGCATCG	0.592000														128			20		1.10513e-12	1.71624e-12	0.014323	1	0
CHRM3	1131	broad.mit.edu	37	1	240071876	240071876	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:240071876C>A	uc021plc.1	+	0	1125	c.1125C>A	c.(1123-1125)agC>agA	p.S375R	CHRM3_uc001hyp.3_Missense_Mutation_p.S375R	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	375					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CGGGTCACAGCACCATCCTCA	0.602000														19			5		0.000602214	0.000925523	0.000602	1	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														122			18		0	0	0.014323	0	0
C9orf96	169436	broad.mit.edu	37	9	136259426	136259426	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:136259426C>T	uc004cdk.3	+	7	653	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	198	Protein kinase.						ATP binding|protein kinase activity	p.R198C(2)|p.R198H(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGACCCCTTTCGTAAGTCCTG	0.567000														99			23		0	0	0.002780	0	0
DACH1	1602	broad.mit.edu	37	13	72131213	72131213	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:72131213C>T	uc021rkj.1	-	5	1942	c.1519G>A	c.(1519-1521)Gga>Aga	p.G507R	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCCAAATCTCCCTCTTTGGGC	0.418000														40			6		0	0	0.001168	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626208	140626208	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140626208C>G	uc003lje.3	+	0	1062	c.1062C>G	c.(1060-1062)agC>agG	p.S354R		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	354	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTTACCAGCCCTATTCCCG	0.453000														80			20		0	0	0.007413	0	0
OR6V1	346517	broad.mit.edu	37	7	142749462	142749462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142749462G>A	uc011ksv.2	+	0	25	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCAGCCCTCCGAATTTGTCCT	0.517000														140			57		0	0	0.014410	0	0
IRGC	56269	broad.mit.edu	37	19	44223413	44223413	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:44223413G>A	uc002oxh.3	+	1	850	c.703G>A	c.(703-705)Gac>Aac	p.D235N	IRGC_uc021uvh.1_Missense_Mutation_p.D235N	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	235						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTGGGAGCACGACCTGCCCTC	0.667000														16			6		0	0	0.001168	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661352	176661352	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176661352G>A	uc001gkz.3	+	5	3686	c.2522G>A	c.(2521-2523)aGa>aAa	p.R841K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	841					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGAAAGCAGAAAGCCCACC	0.498000														135			31		0	0	0.003755	0	0
EFS	10278	broad.mit.edu	37	14	23828855	23828856	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:23828855_23828856CC>TT	uc001wjo.3	-	3	1439_1440	c.831_832GG>AA	c.(829-834)caggac>caAAac	p.D278N	EFS_uc001wjp.3_Missense_Mutation_p.D185N|EFS_uc010tnm.2_Missense_Mutation_p.D109N	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	278	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCCAGGGTGTCCTGGTCATGGG	0.708000														40			5		0	0	0.004672	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798785	55798785	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:55798785G>A	uc010riw.2	+	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACAAGGATGTGAAAAATGCTC	0.313000														43			6		0	0	0.001168	0	0
MAGI1	9223	broad.mit.edu	37	3	65349223	65349223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:65349223G>A	uc003dmn.3	-	20	3938	c.3412C>T	c.(3412-3414)Cga>Tga	p.R1138*	MAGI1_uc003dmm.3_Nonsense_Mutation_p.R1166*|MAGI1_uc003dmo.3_Nonsense_Mutation_p.R1167*|MAGI1_uc003dmp.3_Nonsense_Mutation_p.R1071*	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1167	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CGGCCTCCTCGAAGGCTAAAG	0.463000														102			21		0	0	0.010504	0	0
SYT8	90019	broad.mit.edu	37	11	1858224	1858224	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:1858224G>A	uc001lue.1	+	7	998	c.870G>A	c.(868-870)agG>agA	p.R290R	SYT8_uc001lud.2_Silent_p.R290R|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	290	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGAACCAGAGGAAGTGGAAGA	0.632000														56			12		0	0	0.010729	0	0
FLNC	2318	broad.mit.edu	37	7	128493032	128493032	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:128493032C>T	uc003vnz.4	+	36	6364	c.6155C>T	c.(6154-6156)tCc>tTc	p.S2052F	FLNC_uc003voa.4_Missense_Mutation_p.S2019F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2052					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AAGGGGCTTTCCGAGGGACAC	0.617000														93			43		0	0	0.014410	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673303	25673303	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:25673303G>A	uc003grr.3	+	8	1089	c.1008G>A	c.(1006-1008)tgG>tgA	p.W336*	SLC34A2_uc003grs.3_Nonsense_Mutation_p.W335*|SLC34A2_uc010iev.3_Nonsense_Mutation_p.W335*	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	336					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCAAAACTGGACCATGAAGA	0.498000			T	ROS1	NSCLC									164			31		0	0	0.009535	0	0
GPR115	221393	broad.mit.edu	37	6	47675989	47675989	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:47675989G>A	uc003oyz.1	+	3	294	c.294G>A	c.(292-294)ggG>ggA	p.G98G	GPR115_uc003oza.1_Silent_p.G41G|GPR115_uc003ozb.1_Silent_p.G41G	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	41					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCCCTGAAGGGAAACCCAAGA	0.453000														19			4		0	0	0.000602	0	0
SPACA1	81833	broad.mit.edu	37	6	88768457	88768457	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:88768457C>T	uc003pmn.3	+	3	508	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	131						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		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;0.11)		TTCAGAAAGTCTTGAAAGTGT	0.313000														29			4		0	0	0.001168	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530614	5530614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:5530614C>T	uc021qcw.1	-	0	175	c.175G>A	c.(175-177)Gat>Aat	p.D59N	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.D59N	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	59	Ubiquitin-like.							p.D59N(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAAGCTGATCGGGGTGGGCC	0.502000														140			23		0	0	0.003954	0	0
RYR2	6262	broad.mit.edu	37	1	237580356	237580356	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:237580356C>T	uc001hyl.1	+	10	901	c.781C>T	c.(781-783)Cat>Tat	p.H261Y		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	261	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAACTGTTCATTATGAAGG	0.393000														39			7		0	0	0.003080	0	0
SPG20	23111	broad.mit.edu	37	13	36888536	36888536	+	Silent	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:36888536A>G	uc001uvn.3	-	6	1581	c.1311T>C	c.(1309-1311)ggT>ggC	p.G437G	SPG20_uc010ten.2_Silent_p.G427G|SPG20_uc001uvm.3_Silent_p.G437G|SPG20_uc001uvo.3_Silent_p.G437G|SPG20_uc001uvq.3_Silent_p.G437G	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	437					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTTTGACTAAACCCCAACTCA	0.383000														49			7		0	0	0.003080	0	0
CSMD1	64478	broad.mit.edu	37	8	3000022	3000022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:3000022G>A	uc022aqr.1	-	40	6596	c.6206C>T	c.(6205-6207)tCg>tTg	p.S2069L	CSMD1_uc011kwj.2_Missense_Mutation_p.S1462L|CSMD1_uc010lrg.3_Missense_Mutation_p.S138L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2070	CUB 12.					integral to membrane		p.S2069L(1)|p.S1798L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGTTTTGCGAATGGTCACT	0.453000														43			6		0	0	0.001168	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313585	233313585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:233313585G>A	uc001hvl.2	-	16	3471	c.3236C>T	c.(3235-3237)gCt>gTt	p.A1079V	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1079						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTCAGCAGCTGACTCTGC	0.433000														45			11		0	0	0.010729	0	0
SIM1	6492	broad.mit.edu	37	6	100897561	100897561	+	Silent	SNP	T	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:100897561T>A	uc003pqj.4	-	3	830	c.363A>T	c.(361-363)ggA>ggT	p.G121G	SIM1_uc021zdg.1_Silent_p.G121G|SIM1_uc010kcu.3_Silent_p.G121G	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	121	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGCTGTTTCCGGTCAGCT	0.577000														54			6		0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141986887	141986887	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:141986887C>T	uc002tvj.1	-	5	1687	c.715G>A	c.(715-717)Gat>Aat	p.D239N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	239					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAATAAAATCCAGAGTATGA	0.294000										TSP Lung(27;0.18)				35			6		0	0	0.001168	0	0
PAPPA	5069	broad.mit.edu	37	9	118982244	118982244	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:118982244C>T	uc004bjn.3	+	4	2328	c.1947C>T	c.(1945-1947)ccC>ccT	p.P649P	PAPPA_uc011lxp.1_Silent_p.P344P|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	649					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.P649H(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCTTCACGCCCAATCAAGTCG	0.592000														94			16		0	0	0.004990	0	0
RHO	6010	broad.mit.edu	37	3	129252474	129252474	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:129252474C>T	uc003emt.3	+	4	1055	c.960C>T	c.(958-960)acC>acT	p.T320T		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	320					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGCTCACCACCATCTGCTGCG	0.617000														109			22		0	0	0.014323	0	0
SCN10A	6336	broad.mit.edu	37	3	38738847	38738847	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:38738847C>T	uc003ciq.3	-	26	5864	c.5864G>A	c.(5863-5865)gGg>gAg	p.G1955E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1955					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACTAGGGCCCAGGGGCAAT	0.483000														79			13		0	0	0.002450	0	0
ZNF613	79898	broad.mit.edu	37	19	52447895	52447895	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:52447895C>T	uc002pxz.2	+	5	1223	c.759C>T	c.(757-759)aaC>aaT	p.N253N	ZNF613_uc002pya.2_Silent_p.N217N	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACCAGAGAAACCACACAGGAG	0.463000														86			11		0	0	0.010729	0	0
WTIP	126374	broad.mit.edu	37	19	34981317	34981317	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:34981317C>T	uc002nvm.3	+	1	704	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCTACGGAGCCCAGCAGGCG	0.587000														60			6		0	0	0.001984	0	0
ZNF709	163051	broad.mit.edu	37	19	12575985	12575985	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:12575985G>A	uc002mtv.4	-	3	912	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	ZNF709_uc002mtw.4_Missense_Mutation_p.P219S|ZNF709_uc002mtx.4_Missense_Mutation_p.P251S	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATTCATAGGGTTTCTCTCCA	0.393000														57			6		0	0	0.001168	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45244822	45244822	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:45244822G>A	uc003bfd.3	+	14	1666	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	PRR5-ARHGAP8_uc011aqi.2_Silent_p.V375V|PRR5-ARHGAP8_uc011aqj.2_Silent_p.V289V|PRR5-ARHGAP8_uc003bfi.3_Silent_p.V253V|PRR5-ARHGAP8_uc010gzv.3_Silent_p.V253V|PRR5-ARHGAP8_uc003bfj.3_Silent_p.V284V|PRR5-ARHGAP8_uc003bfk.3_Silent_p.V253V|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GGAAGCCCGTGAACTTTGACG	0.617000														108			17		0	0	0.004007	0	0
CLEC4A	50856	broad.mit.edu	37	12	8276533	8276533	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:8276533G>A	uc001qtz.1	+	0	306	c.59G>A	c.(58-60)gGc>gAc	p.G20D	CLEC4A_uc009zga.1_Missense_Mutation_p.G20D|CLEC4A_uc001qub.1_Missense_Mutation_p.G20D|CLEC4A_uc001quc.1_Missense_Mutation_p.G20D|CLEC4A_uc009zgb.1_Missense_Mutation_p.G20D	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA.	20					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		AAGTCCTCAGGCATCAACACA	0.418000														44			7		0	0	0.004482	0	0
PCDH18	54510	broad.mit.edu	37	4	138452842	138452842	+	Missense_Mutation	SNP	G	A	A	rs143505708	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:138452842G>A	uc003ihe.4	-	0	788	c.401C>T	c.(400-402)tCt>tTt	p.S134F	PCDH18_uc003ihf.4_Missense_Mutation_p.S127F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	134	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAACTGGGGAGAATTGTCATT	0.433000														22			4		0	0	0.009096	0	0
GEMIN4	50628	broad.mit.edu	37	17	648241	648241	+	Silent	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:648241A>G	uc002frs.1	-	1	3161	c.3042T>C	c.(3040-3042)acT>acC	p.T1014T		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	1014					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCTTGCTCAAAGTCTCATAGC	0.557000														38			3		0	0	0.004672	0	0
OR5H1	26341	broad.mit.edu	37	3	97851905	97851905	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:97851905C>T	uc011bgt.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGCATATGATCGCTATGTAGC	0.393000														58			6		0	0	0.001984	0	0
TACC2	10579	broad.mit.edu	37	10	123847380	123847380	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:123847380G>A	uc001lfv.3	+	3	5725	c.5365G>A	c.(5365-5367)Gat>Aat	p.D1789N	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.D1789N|TACC2_uc010qtv.2_Missense_Mutation_p.D1789N	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1789						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCAGCTGGGGATGGGAAGGT	0.622000														28			10		0	0	0.001855	0	0
WNK3	65267	broad.mit.edu	37	X	54359611	54359611	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:54359611C>A	uc004dtc.2	-	1	935	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	WNK3_uc004dtd.2_Missense_Mutation_p.D166Y	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	166	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTTTCAGTGTCCAGTCCTTTA	0.408000														35			16		2.94398e-08	4.5666e-08	0.007413	1	0
SRGAP3	9901	broad.mit.edu	37	3	9146374	9146374	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:9146374A>C	uc003brf.1	-	2	1089	c.413T>G	c.(412-414)cTc>cGc	p.L138R	SRGAP3_uc003brg.1_Missense_Mutation_p.L138R|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.3_Missense_Mutation_p.L138R	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	138					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTTTTTGAAGAGTCTGATGAC	0.552000			T	RAF1	pilocytic astrocytoma									83			13		0	0	0.001855	0	0
ACSL1	2180	broad.mit.edu	37	4	185697691	185697691	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:185697691C>T	uc003iww.2	-	6	997	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	ACSL1_uc011ckm.1_Missense_Mutation_p.V64M|ACSL1_uc003iwt.1_Missense_Mutation_p.V235M|ACSL1_uc003iwu.1_Missense_Mutation_p.V235M|ACSL1_uc011ckn.1_Missense_Mutation_p.V201M|ACSL1_uc010ise.1_5'Flank	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	235					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCGTTCCACCAGTTCACTG	0.522000														100			14		0	0	0.003163	0	0
ZNHIT3	9326	broad.mit.edu	37	17	34842473	34842473	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:34842473G>A	uc002hms.1	+	1	1	c.-70_splice	c.e1-1		ZNHIT3_uc010cus.1_Splice_Site|ZNHIT3_uc002hmt.1_Splice_Site|ZNHIT3_uc010cut.1_Splice_Site	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.						regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		ACGGAAAAAGGGGCGTGCACG	0.592000														42			9		0	0	0.004482	0	0
SCN10A	6336	broad.mit.edu	37	3	38755522	38755522	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:38755522G>A	uc003ciq.3	-	20	3731	c.3731C>T	c.(3730-3732)gCt>gTt	p.A1244V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1244					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTGATGGGAGCCACTTCAGA	0.502000														102			14		0	0	0.003163	0	0
OS9	10956	broad.mit.edu	37	12	58110498	58110498	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:58110498C>T	uc001spj.3	+	8	1223	c.1016C>T	c.(1015-1017)gCa>gTa	p.A339V	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Missense_Mutation_p.A339V|OS9_uc001spl.3_Missense_Mutation_p.A339V|OS9_uc001spm.3_Missense_Mutation_p.A339V|OS9_uc001spn.3_Missense_Mutation_p.A340V|OS9_uc010sry.2_Missense_Mutation_p.A307V|OS9_uc010srz.2_Missense_Mutation_p.A280V	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	339					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGCCCTGAGGCAGCAGATTCA	0.507000														109			15		0	0	0.004990	0	0
MEGF11	84465	broad.mit.edu	37	15	66223205	66223205	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:66223205C>T	uc002apm.2	-	10	1505	c.1364G>A	c.(1363-1365)gGt>gAt	p.G455D	MEGF11_uc002apl.2_Missense_Mutation_p.G380D|MEGF11_uc002apn.1_Missense_Mutation_p.G455D	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	455	EGF-like 8.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCAGGTGCCACCATTGTTACA	0.562000														66			11		0	0	0.013537	0	0
ABCA10	10349	broad.mit.edu	37	17	67187420	67187420	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:67187420G>A	uc010dfa.1	-	17	2787	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Silent_p.I237I	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	636					transport	integral to membrane	ATP binding|ATPase activity	p.I636M(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAAGGGATGTGATTTTTTCTG	0.338000														21			6		0	0	0.003080	0	0
SH2D5	400745	broad.mit.edu	37	1	21050929	21050929	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:21050929G>A	uc009vpy.1	-	5	1092	c.590C>T	c.(589-591)tCc>tTc	p.S197F	SH2D5_uc001bdt.1_Missense_Mutation_p.S113F|SH2D5_uc001bdu.1_Non-coding_Transcript	NM_001103161	NP_001096630	Q6ZV89	SH2D5_HUMAN	Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA.	113										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGCCGAAAGGAGACCAGGGC	0.662000														34			11		0	0	0.008291	0	0
TRAK2	66008	broad.mit.edu	37	2	202248842	202248843	+	Missense_Mutation	DNP	AA	CC	CC			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:202248842_202248843AA>CC	uc002uyb.4	-	14	2506_2507	c.2060_2061TT>GG	c.(2059-2061)gtt>gGG	p.V687G		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	687				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ACCTGGGGGTAACCTGAGTGAT	0.426000														36			6		0	0	0.004672	0	0
PTPN22	26191	broad.mit.edu	37	1	114380623	114380623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:114380623C>T	uc001eds.3	-	12	1529	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	PTPN22_uc021orx.1_Missense_Mutation_p.E467K|PTPN22_uc009wgq.3_Missense_Mutation_p.E412K|PTPN22_uc021ory.1_Missense_Mutation_p.E443K|PTPN22_uc010owo.2_Missense_Mutation_p.E223K|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.E467K|PTPN22_uc009wgs.2_Missense_Mutation_p.E340K|PTPN22_uc001edu.2_Missense_Mutation_p.E467K	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	467					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity	p.E467K(2)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAGTTTTCCTTGCTGTCC	0.373000														78			7		0	0	0.004482	0	0
ATP9B	374868	broad.mit.edu	37	18	77067158	77067158	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:77067158A>G	uc002lmx.3	+	14	1711	c.1697A>G	c.(1696-1698)gAg>gGg	p.E566G	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.E566G|ATP9B_uc002lmz.1_Missense_Mutation_p.E260G	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	566					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCGTTACTGAGGAGACTGAG	0.542000														88			13		0	0	0.002450	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754685	93754685	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:93754685A>G	uc001pep.2	+	0	308	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	51	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TATTACTGGGAAAAGTTTCAC	0.448000														115			20		0	0	0.014323	0	0
XIRP1	165904	broad.mit.edu	37	3	39230536	39230536	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:39230536G>A	uc003cjk.2	-	1	630	c.401C>T	c.(400-402)tCc>tTc	p.S134F	XIRP1_uc003cji.3_Missense_Mutation_p.S134F|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.S134F	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	134							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTGGCAAAGGAGCCTTCCTC	0.612000														59			16		0	0	0.004990	0	0
ALKBH1	8846	broad.mit.edu	37	14	78174243	78174243	+	Silent	SNP	G	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:78174243G>T	uc001xuc.1	-	0	114	c.105C>A	c.(103-105)ccC>ccA	p.P35P	SLIRP_uc001xue.4_5'Flank	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	35					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTGCGGTCCCGGGCCGGCTCT	0.667000														60			9		1.12685e-05	1.73984e-05	0.004482	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232629380	232629380	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:232629380C>T	uc001hvg.3	-	1	1668	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	504					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCAAGGTTTTCATCTATTCCA	0.448000														228			52		0	0	0.014410	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056460	120056460	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:120056460C>T	uc001ehv.1	+	3	459	c.314C>T	c.(313-315)aCc>aTc	p.T105I		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	105					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGGACAGGTACCCAGCTCCTG	0.512000														227			33		0	0	0.003755	0	0
SIRPG	55423	broad.mit.edu	37	20	1616836	1616836	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:1616836C>T	uc002wfm.1	-	2	811	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	SIRPG_uc002wfn.1_Missense_Mutation_p.R249Q|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	249					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCCTCTACCTCGGATGGCCTC	0.622000														55			8		0	0	0.006214	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560333	44560333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:44560333C>T	uc002lcr.1	-	0	1656	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	435					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GACTGGCTTTCCTGGACAGGA	0.577000														108			22		0	0	0.014323	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626250	140626250	+	Silent	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140626250T>C	uc003lje.3	+	0	1104	c.1104T>C	c.(1102-1104)ttT>ttC	p.F368F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	368	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCCCTGTTTAGGATTAGAG	0.408000														65			15		0	0	0.003163	0	0
P2RX3	5024	broad.mit.edu	37	11	57135556	57135556	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:57135556G>A	uc001nju.3	+	8	1100	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	306					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CATCCGCTTCGACGTGCTGGT	0.567000														69			8		0	0	0.003080	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	C	C	rs121913377		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:140453134T>C	uc003vwc.4	-	14	1862	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					40			27		0	0	0.012213	0	0
ZNF235	9310	broad.mit.edu	37	19	44791801	44791801	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:44791801T>G	uc002oza.4	-	4	1890	c.1787A>C	c.(1786-1788)gAa>gCa	p.E596A	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.E592A	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAATGGTTTTTCCCCAGTGTG	0.483000														66			10		0	0	0.008291	0	0
SETD1A	9739	broad.mit.edu	37	16	30976345	30976345	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:30976345C>T	uc002ead.1	+	6	1968	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	428	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTACCGGCCTCCTGCCTCAGA	0.662000														48			7		0	0	0.004482	0	0
MAP2K4	6416	broad.mit.edu	37	17	12016634	12016634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:12016634C>T	uc002gnj.3	+	6	839	c.770C>T	c.(769-771)tCt>tTt	p.S257F	MAP2K4_uc002gnk.3_Missense_Mutation_p.S268F|MAP2K4_uc010vvi.2_Missense_Mutation_p.S139F|MAP2K4_uc010vvj.2_Missense_Mutation_p.S129F	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	257	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTTGTGGACTCTATTGCCAAG	0.448000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""									27			4		0	0	0.009096	0	0
LIPI	149998	broad.mit.edu	37	21	15561360	15561360	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:15561360G>A	uc002yjm.3	-	1	500	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.L143F|LIPI_uc021whh.1_Missense_Mutation_p.L143F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.L143F|LIPI_uc021whe.1_Missense_Mutation_p.L143F|LIPI_uc021whf.1_Missense_Mutation_p.L143F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	143					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.L164V(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTTACCAAAAGATTTTTAATG	0.333000														41			4		0	0	0.000602	0	0
NLRC4	58484	broad.mit.edu	37	2	32476427	32476427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:32476427C>T	uc002roi.3	-	3	767	c.506G>A	c.(505-507)gGg>gAg	p.G169E	NLRC4_uc021vfq.1_Missense_Mutation_p.G169E|NLRC4_uc002roj.2_Missense_Mutation_p.G169E|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	169	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCCAGATTCCCCTTCAATGAT	0.562000														60			6		0	0	0.001168	0	0
UBE3B	89910	broad.mit.edu	37	12	109967761	109967761	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:109967761C>T	uc001top.3	+	24	3297	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	UBE3B_uc001toq.3_Silent_p.A898A|UBE3B_uc001tos.3_Silent_p.A325A|UBE3B_uc001tot.3_Silent_p.A16A|UBE3B_uc010sxp.1_Silent_p.A16A	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	898	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AAACAGCTGCCCTCATTAGCG	0.438000														78			12		0	0	0.013537	0	0
CYP2C19	1557	broad.mit.edu	37	10	96454787	96454787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:96454787G>A	uc001kjv.4	+	3	921	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CYP2C19_uc001kjw.4_Missense_Mutation_p.E199K|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	199					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TAACTTGATGGAAAAATTCAA	0.388000														34			7		0	0	0.004482	0	0
SH2B1	25970	broad.mit.edu	37	16	28883220	28883220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:28883220C>T	uc002dri.3	+	7	1868	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Missense_Mutation_p.P167S|SH2B1_uc002drj.3_Missense_Mutation_p.P477S|SH2B1_uc002drk.3_Missense_Mutation_p.P477S|SH2B1_uc002drl.3_Missense_Mutation_p.P477S|SH2B1_uc010vdd.2_Missense_Mutation_p.P141S|SH2B1_uc010vde.2_Missense_Mutation_p.P477S|SH2B1_uc002drm.3_Missense_Mutation_p.P477S	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	477	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCCGCATCCCCATTGAAGA	0.627000														44			10		0	0	0.008291	0	0
ITGB4	3691	broad.mit.edu	37	17	73727378	73727378	+	Missense_Mutation	SNP	C	T	T	rs141337579	by1000genomes	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:73727378C>T	uc002jpg.3	+	9	1331	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	ITGB4_uc002jph.3_Missense_Mutation_p.R382W|ITGB4_uc010dgo.3_Missense_Mutation_p.R382W|ITGB4_uc002jpi.4_Missense_Mutation_p.R382W|ITGB4_uc010dgp.1_Missense_Mutation_p.R382W|ITGB4_uc002jpj.3_Missense_Mutation_p.R382W|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	382					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGAGGCCTTCGGACAGAGGT	0.637000														73			9		0	0	0.004482	0	0
PILRB	29990	broad.mit.edu	37	7	99956576	99956576	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:99956576C>T	uc022aim.1	+	6	1400	c.328C>T	c.(328-330)Ctc>Ttc	p.L110F	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Missense_Mutation_p.L110F	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	110	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCGGCTTCCTCAGGATCTC	0.562000														134			24		0	0	0.004656	0	0
STIL	6491	broad.mit.edu	37	1	47746080	47746080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:47746080G>A	uc001crd.1	-	11	2205	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.P637S|STIL_uc010omo.1_Missense_Mutation_p.P684S|STIL_uc001crc.1_Missense_Mutation_p.P684S|STIL_uc001cre.1_Missense_Mutation_p.P684S|STIL_uc001crf.1_Missense_Mutation_p.P297S|STIL_uc001crg.1_Missense_Mutation_p.P637S	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	684	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTTGCCACAGGCGATGGTTCA	0.483000														125			22		0	0	0.002780	0	0
GPR18	2841	broad.mit.edu	37	13	99907258	99907258	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:99907258G>A	uc001voe.4	-	2	1528	c.869C>T	c.(868-870)tCa>tTa	p.S290L	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Missense_Mutation_p.S290L|GPR18_uc021rlz.1_Missense_Mutation_p.S290L	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	290						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	AAATTGTTTTGAAACGATGTA	0.468000														63			14		0	0	0.002450	0	0
ENAM	10117	broad.mit.edu	37	4	71510108	71510108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:71510108G>A	uc011caw.1	+	8	3246	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	989					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCTCAAAAATGATCTTGGAGG	0.408000														49			14		0	0	0.002450	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226002	79226002	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:79226002G>A	uc002jzz.1	-	12	2313	c.1938C>T	c.(1936-1938)agC>agT	p.S646S	SLC38A10_uc002jzy.1_Silent_p.S564S|SLC38A10_uc002kab.3_Silent_p.S646S	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	646					amino acid transport|sodium ion transport	integral to membrane		p.D645G(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCGTGGTCGCTGTCCTCTG	0.697000														109			28		0	0	0.006320	0	0
DNAH17	8632	broad.mit.edu	37	17	76457746	76457746	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:76457746G>A	uc010dhp.2	-	57	9344	c.9219C>T	c.(9217-9219)ctC>ctT	p.L3073L	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTCTGCTTGAGCTCAGCCT	0.562000														27			4		0	0	0.001168	0	0
FAT4	79633	broad.mit.edu	37	4	126240824	126240824	+	Silent	SNP	T	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:126240824T>G	uc003ifj.4	+	0	3258	c.3258T>G	c.(3256-3258)gtT>gtG	p.V1086V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1086	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTGAATGTTACTGTAATTT	0.383000														138			21		0	0	0.012319	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:61802491C>T	uc001jky.3	-	42	13430	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_uc001jkw.3_Silent_p.T988T|ANK3_uc009xpa.3_Silent_p.T987T|ANK3_uc001jkx.3_Silent_p.T1031T|ANK3_uc010qih.2_Silent_p.T1855T|ANK3_uc001jkz.4_Silent_p.T1848T|ANK3_uc001jkv.3_Silent_p.T387T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4364					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTTTCTTCGTTTTCACCT	0.398000														94			13		0	0	0.001855	0	0
TRAF5	7188	broad.mit.edu	37	1	211526699	211526699	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:211526699G>A	uc010psx.2	+	1	203	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	TRAF5_uc001hih.3_Missense_Mutation_p.E40K|TRAF5_uc001hii.3_Missense_Mutation_p.E40K|TRAF5_uc010psy.2_Missense_Mutation_p.E40K|TRAF5_uc001hij.3_Missense_Mutation_p.E40K	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	40					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GGAGCGGTTGGAAGAGCGCTA	0.547000														121			21		0	0	0.010504	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217790	44217790	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:44217790C>A	uc003oxa.1	+	4	631	c.547C>A	c.(547-549)Ctc>Atc	p.L183I	HSP90AB1_uc011dvr.1_Missense_Mutation_p.L173I|HSP90AB1_uc003oxb.1_Missense_Mutation_p.L183I|HSP90AB1_uc011dvs.1_Missense_Mutation_p.L3I|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	183					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAAAGTGATCCTCCATCTTAA	0.433000														81			12		2.31682e-05	3.573e-05	0.003163	1	0
RANBP3	8498	broad.mit.edu	37	19	5931539	5931539	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:5931539G>A	uc002mdw.3	-	7	796	c.569C>T	c.(568-570)cCc>cTc	p.P190L	RANBP3_uc002mdv.3_5'UTR|RANBP3_uc002mdx.3_Missense_Mutation_p.P190L|RANBP3_uc002mdy.3_Missense_Mutation_p.P122L|RANBP3_uc002mdz.3_Missense_Mutation_p.P122L|RANBP3_uc010duq.3_Missense_Mutation_p.P100L|RANBP3_uc010xix.2_Missense_Mutation_p.P62L	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	190					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GCCACTGCTGGGGACTGTGGG	0.652000														60			12		0	0	0.001855	0	0
GLT1D1	144423	broad.mit.edu	37	12	129383812	129383812	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:129383812G>A	uc010tbh.1	+	3	331	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	GLT1D1_uc001uhx.1_Missense_Mutation_p.E119K|GLT1D1_uc001uhy.1_Intron	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	119					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	p.R108G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GTCAATGAAGGAAATGGCACA	0.378000														87			15		0	0	0.007413	0	0
GORASP2	26003	broad.mit.edu	37	2	171819405	171819405	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:171819405C>T	uc002ugk.3	+	8	1782	c.967C>T	c.(967-969)Cca>Tca	p.P323S	GORASP2_uc002ugj.3_Missense_Mutation_p.P255S|GORASP2_uc010zdl.2_Missense_Mutation_p.P335S|GORASP2_uc010zdm.2_Missense_Mutation_p.P279S|GORASP2_uc002ugl.3_Missense_Mutation_p.P255S|GORASP2_uc002ugm.3_Missense_Mutation_p.P105S	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	323	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CCTCAACCTCCCAGCACCACA	0.473000														44			8		0	0	0.010729	0	0
TMEM38A	79041	broad.mit.edu	37	19	16797160	16797160	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:16797160C>T	uc002nes.3	+	4	707	c.616C>T	c.(616-618)Cca>Tca	p.P206S		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	206						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CCGCTGGCTCCCAGTGTCCAA	0.562000														41			5		0	0	0.000602	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408642	105408642	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:105408642C>T	uc010axc.1	-	6	13266	c.13146G>A	c.(13144-13146)ccG>ccA	p.P4382P	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.P4282P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4382						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGCAGCTTCGGCAGGTGCC	0.602000														102			25		0	0	0.003954	0	0
DCLK1	9201	broad.mit.edu	37	13	36401880	36401880	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:36401880G>A	uc001uvf.3	-	9	1582	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.I126I|DCLK1_uc010teh.2_Silent_p.I126I|DCLK1_uc010abk.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	433	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTCATTCTGGATCATGTGCT	0.393000														65			12		0	0	0.004007	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142499844	142499844	+	RNA	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142499844G>A	uc003wbe.4	+	3		c.514G>A			TCRBV3S1_uc022anx.1_Non-coding_Transcript|TCRBV3S1_uc003wbi.4_Non-coding_Transcript|TCRBV3S1_uc022any.1_Non-coding_Transcript|TCRBV3S1_uc003wbm.4_Non-coding_Transcript|TCRBV3S1_uc003wbn.4_Non-coding_Transcript|TCRBV3S1_uc010los.3_Non-coding_Transcript					Human TCR Cbeta1 chain cDNA.																		TCTTGCTAGGGAAGGCCACCT	0.567000														75			9		0	0	0.010729	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997290	82997290	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:82997290G>A	uc003uhy.2	-	16	2561	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	SEMA3E_uc022agy.1_Missense_Mutation_p.S587L	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	647	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCCAGCATCTGATTTGTGTAA	0.428000														53			8		0	0	0.004482	0	0
UBE2C	11065	broad.mit.edu	37	20	44444545	44444545	+	Silent	SNP	C	T	T	rs61760191		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:44444545C>T	uc002xpm.3	+	4	554	c.474C>T	c.(472-474)aaC>aaT	p.N158N	UBE2C_uc002xpl.3_Silent_p.N140N|UBE2C_uc002xpn.3_Silent_p.N119N|UBE2C_uc002xpo.3_Silent_p.N129N|UBE2C_uc002xpp.3_3'UTR|UBE2C_uc002xpq.3_Silent_p.N119N	NM_007019	NP_861518	O00762	UBE2C_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C (UBE2C), transcript variant 1, mRNA.	158					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	p.N158T(1)		large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TCTGGAAAAACCCCACAGGTG	0.552000														134			7		0	0	0.004482	0	0
OR10A4	283297	broad.mit.edu	37	11	6898467	6898467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:6898467G>A	uc010rat.2	+	0	612	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTGTGTTTGAACTGGAGGC	0.498000														65			10		0	0	0.010729	0	0
AKAP6	9472	broad.mit.edu	37	14	33015010	33015010	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:33015010C>T	uc001wrq.3	+	3	1321	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	AKAP6_uc010aml.3_Missense_Mutation_p.P381L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	384					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGGACTCTCCCACGCAGCCT	0.418000														43			10		0	0	0.008291	0	0
DRD5	1816	broad.mit.edu	37	4	9784938	9784938	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:9784938G>A	uc003gmb.4	+	0	1681	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	429					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.D428D(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGACAACGACGAGGAGGAGGG	0.577000														60			6		0	0	0.001168	0	0
POTEF	728378	broad.mit.edu	37	2	130832798	130832798	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:130832798C>T	uc010fmh.2	-	16	2647	c.2247G>A	c.(2245-2247)caG>caA	p.Q749Q		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	749	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGGACTCTTTCTGATGCATGC	0.617000														80			17		0	0	0.004007	0	0
FREM2	341640	broad.mit.edu	37	13	39263138	39263138	+	Silent	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:39263138T>C	uc001uwv.3	+	0	1966	c.1657T>C	c.(1657-1659)Tta>Cta	p.L553L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	553					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCCATCACCTTAGTGCCTGT	0.587000														25			5		0	0	0.001168	0	0
NIM1	167359	broad.mit.edu	37	5	43277242	43277242	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:43277242G>A	uc003jno.3	+	2	1257	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	126	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CTCCAGCATGGAAAAGCTGCA	0.498000														54			9		0	0	0.004482	0	0
NPTX2	4885	broad.mit.edu	37	7	98254457	98254457	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:98254457C>T	uc003upl.2	+	2	1044	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	289	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.I289I(4)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAACCCCATCGAGCTGCTCA	0.662000														69			14		0	0	0.003163	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917321	108917321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:108917321C>T	uc002tdy.3	+	3	758	c.305C>T	c.(304-306)tCt>tTt	p.S102F	SULT1C2_uc010ywp.1_Intron|SULT1C2_uc010ywq.2_Missense_Mutation_p.S116F|SULT1C2_uc002tdx.3_Intron	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	102					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCAATGCCCTCTCCACGGATA	0.478000														140			24		0	0	0.007291	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748170	19748170	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:19748170C>T	uc009zzj.3	-	4	1291	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	396					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACATGAGATCGAACTTATGG	0.642000														116			14		0	0	0.004007	0	0
LOC401010	401010	broad.mit.edu	37	2	132200580	132200580	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:132200580C>T	uc002tst.2	-	0	1888	c.1422G>A	c.(1420-1422)tgG>tgA	p.W474*						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GCTGGATCTCCCAGTCACGCA	0.572000														35			4		0	0	0.009096	0	0
BAG1	573	broad.mit.edu	37	9	33264545	33264545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:33264545G>A	uc003zsj.3	-	0	215	c.128C>T	c.(127-129)cCc>cTc	p.P43L	BAG1_uc003zsi.3_5'UTR|CHMP5_uc003zsm.4_5'Flank|CHMP5_uc011lnv.2_5'Flank	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.	43	Arg-rich.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			ACGCCCAGAGGGAGGCGGACC	0.771000														12			3		0	0	0.004672	0	0
ZNF451	26036	broad.mit.edu	37	6	57015571	57015571	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:57015571T>C	uc003pdm.1	+	10	2887	c.2663T>C	c.(2662-2664)aTa>aCa	p.I888T	ZNF451_uc003pdl.3_Missense_Mutation_p.I888T|ZNF451_uc003pdn.1_Intron|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.I888T	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGACTCATATAGTCTTTGTA	0.368000														122			7		0	0	0.003080	0	0
TTC3	7267	broad.mit.edu	37	21	38524315	38524315	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:38524315A>T	uc002yvz.3	+	25	2504	c.2399A>T	c.(2398-2400)aAt>aTt	p.N800I	TTC3_uc011aee.1_Missense_Mutation_p.N490I|TTC3_uc002ywa.3_Missense_Mutation_p.N800I|TTC3_uc002ywb.3_Missense_Mutation_p.N800I|TTC3_uc010gnf.3_Missense_Mutation_p.N565I|TTC3_uc002ywc.3_Missense_Mutation_p.N490I|TTC3_uc011aed.1_Missense_Mutation_p.N490I	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	800					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)				CCACCCAAAAATGAAGAGCAG	0.328000														95			23		0	0	0.002780	0	0
ZNF507	22847	broad.mit.edu	37	19	32844579	32844579	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:32844579T>G	uc002nte.3	+	2	1115	c.843T>G	c.(841-843)ttT>ttG	p.F281L	ZNF507_uc002ntc.2_Missense_Mutation_p.F281L|ZNF507_uc010xrn.1_Missense_Mutation_p.F281L|ZNF507_uc002ntd.3_Missense_Mutation_p.F281L	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I280M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATCCAATCTTTGAAAATGAAA	0.473000														102			16		0	0	0.003163	0	0
SORL1	6653	broad.mit.edu	37	11	121491883	121491883	+	Silent	SNP	G	A	A	rs3134566		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:121491883G>A	uc001pxx.3	+	43	6129	c.6000G>A	c.(5998-6000)ggG>ggA	p.G2000G	SORL1_uc010rzp.1_Silent_p.G846G|SORL1_uc010rzq.1_Silent_p.G615G	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2000	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGCCTGGCGGGAAATACCACA	0.443000														75			11		0	0	0.008291	0	0
ZNF483	158399	broad.mit.edu	37	9	114305057	114305057	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:114305057G>A	uc004bff.2	+	5	2066	c.1842G>A	c.(1840-1842)atG>atA	p.M614I	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	614					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTGCGGAATGACTTTTAGCC	0.408000														33			4		0	0	0.009096	0	0
TRIML2	205860	broad.mit.edu	37	4	189012615	189012615	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:189012615G>A	uc011cle.1	-	7	1523	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	TRIML2_uc003izj.1_Missense_Mutation_p.S187F|TRIML2_uc003izk.1_Missense_Mutation_p.S167F|TRIML2_uc003izl.2_Missense_Mutation_p.S359F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	359							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GATACAGAGGGAAAACACAGG	0.473000														103			18		0	0	0.004990	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516369	140516369	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140516369C>T	uc003liq.3	+	0	1570	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	451					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCCTTCACCCAAACCTCCT	0.602000														120			20		0	0	0.012319	0	0
HEATR3	55027	broad.mit.edu	37	16	50102755	50102755	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:50102755C>T	uc002efw.3	+	2	538	c.376C>T	c.(376-378)Cct>Tct	p.P126S	HEATR3_uc021thv.1_Missense_Mutation_p.P40S|HEATR3_uc002efx.3_Missense_Mutation_p.P40S	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	126							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TATCATGACCCCTCTGGTTGC	0.378000														181			12		0	0	0.003163	0	0
HSD11B1	3290	broad.mit.edu	37	1	209905834	209905834	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:209905834G>A	uc001hhj.3	+	5	703	c.571G>A	c.(571-573)Gat>Aat	p.D191N	HSD11B1_uc021pin.1_Missense_Mutation_p.D191N|HSD11B1_uc001hhk.3_Missense_Mutation_p.D191N	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	191					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GTTTGCTTTGGATGGGTTCTT	0.428000														89			20		0	0	0.014323	0	0
ZNF536	9745	broad.mit.edu	37	19	30935759	30935759	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:30935759C>T	uc002nsu.1	+	1	1428	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y	ZNF536_uc010edd.1_Silent_p.Y430Y	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCCAGGTACCTCTCCTGCC	0.642000														39			8		0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457514	110457514	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:110457514C>T	uc003yne.3	+	37	5520	c.5416C>T	c.(5416-5418)Cca>Tca	p.P1806S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1806	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1808S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACTCCTCTCCCAGTTGGACA	0.468000										HNSCC(38;0.096)				98			5		0	0	0.001984	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427485	27427485	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:27427485G>A	uc011aww.2	-	22	3611	c.3390C>T	c.(3388-3390)ctC>ctT	p.L1130L	SLC4A7_uc011awx.2_Silent_p.L1117L|SLC4A7_uc021wun.1_Silent_p.L1006L|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Silent_p.L1113L|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Silent_p.L1002L|SLC4A7_uc011axb.2_Silent_p.L1117L|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Silent_p.L1002L|SLC4A7_uc010hfl.3_Silent_p.L671L|SLC4A7_uc003cdv.3_Silent_p.L1121L|SLC4A7_uc003cdw.3_Silent_p.L997L	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1121						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ACAGGTCCATGAGTTTGCGCA	0.343000														173			28		0	0	0.009535	0	0
CCDC144A	9720	broad.mit.edu	37	17	16703526	16703526	+	RNA	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:16703526C>T	uc010cpj.1	+	18		c.4637C>T			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		CTGGTCACTCCTCAGGACCAT	0.547000														66			8		0	0	0.004482	0	0
TAF1L	138474	broad.mit.edu	37	9	32630177	32630177	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:32630177C>T	uc003zrg.1	-	0	5491	c.5401G>A	c.(5401-5403)Gga>Aga	p.G1801R		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1801					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCACCATATCCCACATCAGAG	0.468000														72			12		0	0	0.001855	0	0
WDR63	126820	broad.mit.edu	37	1	85595745	85595745	+	Missense_Mutation	SNP	C	T	T	rs143304188		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:85595745C>T	uc001dkt.3	+	21	2673	c.2482C>T	c.(2482-2484)Cgt>Tgt	p.R828C	WDR63_uc009wcl.3_Missense_Mutation_p.R789C	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	828										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAAAAAAATTCGTGAGCAAGA	0.368000														155			19		0	0	0.007413	0	0
OR5D14	219436	broad.mit.edu	37	11	55563262	55563262	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:55563262C>T	uc010rim.2	+	0	231	c.231C>T	c.(229-231)tcC>tcT	p.S77S		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTTACTCTTCCATTGTCACTC	0.403000														28			7		0	0	0.001984	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514779	26514779	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:26514779C>T	uc001bln.4	+	16	1588	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A	CNKSR1_uc001blm.4_Silent_p.A503A|CNKSR1_uc009vsd.3_Silent_p.A245A|CNKSR1_uc009vse.3_Silent_p.A245A|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	510					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCCGGGCCCCCCCACCCC	0.602000														44			12		0	0	0.001855	0	0
COL5A1	1289	broad.mit.edu	37	9	137620555	137620555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:137620555G>A	uc004cfe.3	+	5	1208	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	276	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E276K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTATTACTACGAATACCCCTA	0.607000														130			25		0	0	0.003330	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269672	150269672	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:150269672C>T	uc003whl.3	+	2	596	c.514C>T	c.(514-516)Cca>Tca	p.P172S	GIMAP4_uc011kuu.2_Missense_Mutation_p.P33S|GIMAP4_uc011kuv.2_Missense_Mutation_p.P186S	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	172							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGGAAGCTCCAGAAGACAT	0.468000														79			10		0	0	0.006214	0	0
MXRA5	25878	broad.mit.edu	37	X	3238787	3238787	+	Missense_Mutation	SNP	C	T	T	rs150094241	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:3238787C>T	uc004crg.4	-	4	5096	c.4939G>A	c.(4939-4941)Gaa>Aaa	p.E1647K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1647						extracellular region		p.P1646P(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTAGTTATTTCCGGTTTGTTG	0.453000														94			32		0	0	0.012213	0	0
BYSL	705	broad.mit.edu	37	6	41889369	41889369	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:41889369C>T	uc003orl.3	+	0	405	c.69C>T	c.(67-69)atC>atT	p.I23I	MED20_uc003orj.3_5'Flank|MED20_uc003ork.3_5'Flank|MED20_uc011duh.2_5'Flank|MED20_uc011dui.2_5'Flank|MED20_uc011duj.2_5'Flank	NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	23					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGATCAGATCCTGGCTGGGA	0.652000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			8		0	0	0.004482	0	0
INO80D	54891	broad.mit.edu	37	2	206869496	206869496	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:206869496G>A	uc002vaz.4	-	10	3085	c.2680C>T	c.(2680-2682)Cct>Tct	p.P894S		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	626					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AGGTTGACAGGGAGATTGCCC	0.557000														62			10		0	0	0.006214	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664746	5664747	+	Missense_Mutation	DNP	CC	TT	TT	rs148404455	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:5664746_5664747CC>TT	uc001mbh.3	+	7	1431_1432	c.1274_1275CC>TT	c.(1273-1275)tcc>tTT	p.S425F	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.S779F|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.S425F|TRIM6-TRIM34_uc009yer.3_Intron	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	779						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TTGACTCTCTCCATGGCTGTGC	0.455000														90			15		0	0	0.004672	0	0
OR5M1	390168	broad.mit.edu	37	11	56380268	56380268	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:56380268G>A	uc001nja.1	-	0	711	c.711C>T	c.(709-711)gcC>gcT	p.A237A	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ACGTAGAAAAGGCTTTGTGCC	0.448000														48			6		0	0	0.001984	0	0
OR2B3	442184	broad.mit.edu	37	6	29054291	29054291	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:29054291C>T	uc003nlx.3	-	0	800	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ACACCACAATCATGTGGGACC	0.443000														31			5		0	0	0.001168	0	0
TIMM17A	10440	broad.mit.edu	37	1	201934671	201934672	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:201934671_201934672GG>AA	uc001gxc.3	+	5	466	c.430_splice	c.e5+1	p.G144_splice		NM_006335	NP_006326	Q99595	TI17A_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 17 homolog A (yeast) (TIMM17A), nuclear gene encoding mitochondrial protein, mRNA.	144					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(3)|stomach(1)	5						GTTTCCCAATGGTGAGTCTTTT	0.396000														66			12		0	0	0.004672	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526320	35526320	+	Nonsense_Mutation	SNP	G	A	A	rs149846637		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:35526320G>A	uc002xgh.2	-	14	1851	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	SAMHD1_uc010gft.2_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	551					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAATATACTCGAATCAGCTGC	0.408000														110			9		0	0	0.004482	0	0
LPHN1	22859	broad.mit.edu	37	19	14262155	14262155	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:14262155C>T	uc010xnn.2	-	23	4251	c.3955G>A	c.(3955-3957)Gag>Aag	p.E1319K	LPHN1_uc010xno.2_Missense_Mutation_p.E1314K|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1319					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCTCTTCCTCGCCCCCGCCC	0.716000														13			4		0	0	0.009096	0	0
JAK2	3717	broad.mit.edu	37	9	5044450	5044450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:5044450G>A	uc010mhm.3	+	3	511	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	JAK2_uc003ziw.3_Missense_Mutation_p.R133Q	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	133	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AGAGCCTATCGGCATGGAATA	0.383000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					41			6		0	0	0.001168	0	0
DBC1	1620	broad.mit.edu	37	9	121929643	121929643	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:121929643G>A	uc004bkc.2	-	7	2461	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	669					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCACTGCGCAGGAGGTCGGCG	0.572000														137			21		0	0	0.012319	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960361	73960361	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:73960361G>A	uc004eby.3	-	2	4648	c.4031C>T	c.(4030-4032)cCc>cTc	p.P1344L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1344					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGCTCCATGGGTTCCCAAAG	0.478000														17			5		0	0	0.000602	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800850	185800850	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:185800850G>A	uc002uph.3	+	3	1321	c.727G>A	c.(727-729)Gga>Aga	p.G243R		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	243						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCCTCAGTGGGAAAAGGATT	0.423000														52			10		0	0	0.008291	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101773424	101773424	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:101773424G>A	uc001pgl.3	-	5	1064	c.468C>T	c.(466-468)acC>acT	p.T156T		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	156	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CAGAGCCAATGGTATCCTTAA	0.343000														96			17		0	0	0.007413	0	0
RBM41	55285	broad.mit.edu	37	X	106332042	106332042	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:106332042T>A	uc004emz.3	-	4	605	c.551A>T	c.(550-552)gAt>gTt	p.D184V	RBM41_uc004emy.2_Missense_Mutation_p.D184V	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	184							RNA binding|nucleotide binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GTTCATGGGATCACCTTTGTT	0.373000														42			11		0	0	0.001855	0	0
MAP3K15	389840	broad.mit.edu	37	X	19378893	19378893	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:19378893C>A	uc022btq.1	-	28	3916	c.3916G>T	c.(3916-3918)Gcc>Tcc	p.A1306S	MAP3K15_uc004czj.2_Missense_Mutation_p.A741S|MAP3K15_uc004czk.2_Missense_Mutation_p.A781S|PDHA1_uc004czh.4_3'UTR|PDHA1_uc011mjc.2_3'UTR|PDHA1_uc004czg.4_3'UTR|PDHA1_uc011mjd.2_3'UTR|PDHA1_uc010nfl.3_3'UTR|MAP3K15_uc004czi.2_Missense_Mutation_p.A240S	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1306							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTTTCTGAGGCCTCCTGAGCC	0.502000														22			6		8.12818e-05	0.000125063	0.001984	1	0
C9orf11	54586	broad.mit.edu	37	9	27297013	27297013	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:27297013G>A	uc003zql.3	-	0	125	c.41C>T	c.(40-42)tCc>tTc	p.S14F	C9orf11_uc011lnq.2_Missense_Mutation_p.S14F|C9orf11_uc003zqm.3_Missense_Mutation_p.S14F	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	14						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		ACTTTTTAAGGAAAAAACTCC	0.323000														34			4		0	0	0.000602	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880737	105880737	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:105880737G>A	uc001piy.3	-	2	736	c.563C>T	c.(562-564)aCc>aTc	p.T188I	MSANTD4_uc001piz.3_Missense_Mutation_p.T188I	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	Homo sapiens KIAA1826 (KIAA1826), mRNA.	188						nucleus											TGAGTTAAGGGTAAAAAACTC	0.398000														84			14		0	0	0.003163	0	0
LGALS9C	654346	broad.mit.edu	37	17	18389395	18389395	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:18389395C>T	uc002gtw.3	+	2	349	c.279C>T	c.(277-279)ttC>ttT	p.F93F	LGALS9C_uc010vyb.2_Silent_p.F5F	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA.	93	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						ACATGCCCTTCCAGAAGGGGA	0.582000														32			15		0	0	0.004007	0	0
CACNA1C	775	broad.mit.edu	37	12	2224601	2224601	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:2224601G>A	uc009zdu.1	+	1	574	c.261G>A	c.(259-261)ggG>ggA	p.G87G	CACNA1C_uc001qkc.2_Silent_p.G87G|CACNA1C_uc001qjz.2_Silent_p.G87G|CACNA1C_uc001qkd.2_Silent_p.G87G|CACNA1C_uc001qke.2_Silent_p.G87G|CACNA1C_uc001qkf.2_Silent_p.G87G|CACNA1C_uc009zdw.1_Silent_p.G87G|CACNA1C_uc001qkg.2_Silent_p.G87G|CACNA1C_uc001qkh.2_Silent_p.G87G|CACNA1C_uc001qkl.2_Silent_p.G87G|CACNA1C_uc001qkj.2_Silent_p.G87G|CACNA1C_uc001qkk.2_Silent_p.G87G|CACNA1C_uc001qkn.2_Silent_p.G87G|CACNA1C_uc001qkm.2_Silent_p.G87G|CACNA1C_uc001qko.2_Silent_p.G87G|CACNA1C_uc001qkp.2_Silent_p.G87G|CACNA1C_uc001qkq.2_Silent_p.G87G|CACNA1C_uc001qku.2_Silent_p.G87G|CACNA1C_uc001qkr.2_Silent_p.G87G|CACNA1C_uc001qks.2_Silent_p.G87G|CACNA1C_uc001qkt.2_Silent_p.G87G|CACNA1C_uc009zdv.1_Silent_p.G87G|CACNA1C_uc001qkb.2_Silent_p.G87G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	87					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCAATATGGGAAACCCAAGA	0.657000														37			8		0	0	0.003080	0	0
C8B	732	broad.mit.edu	37	1	57411609	57411609	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:57411609G>A	uc001cyp.3	-	6	1057	c.990C>T	c.(988-990)taC>taT	p.Y330Y	C8B_uc010oon.2_Silent_p.Y268Y|C8B_uc010ooo.2_Silent_p.Y278Y	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	330	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.Y330Y(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTATTCCCCGTAGCTGTACT	0.493000														55			6		0	0	0.001168	0	0
ACVR1B	91	broad.mit.edu	37	12	52374763	52374763	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:52374763C>T	uc010snn.2	+	3	668	c.591C>T	c.(589-591)ctC>ctT	p.L197L	ACVR1B_uc001rzl.3_Silent_p.L197L|ACVR1B_uc001rzm.3_Silent_p.L197L|ACVR1B_uc001rzn.3_Silent_p.L197L|ACVR1B_uc021qya.1_Silent_p.L145L	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	197	GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGTTACCCCTCTTTGTCCAGC	0.498000											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			6		0	0	0.001984	0	0
PURG	29942	broad.mit.edu	37	8	30889612	30889612	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:30889612C>T	uc003xin.3	-	0	706	c.687G>A	c.(685-687)atG>atA	p.M229I	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.M229I	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	229						nucleus	DNA binding	p.M229I(3)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GAAACTCAATCATTCCTTGTG	0.488000														103			13		0	0	0.003163	0	0
LAMA3	3909	broad.mit.edu	37	18	21419774	21419774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:21419774G>A	uc002kuq.3	+	26	3303	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	LAMA3_uc002kur.3_Missense_Mutation_p.E1073K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1073	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGGCCCATGAAACTCCTCC	0.443000														90			20		0	0	0.012319	0	0
HSPG2	3339	broad.mit.edu	37	1	22162078	22162078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:22162078C>T	uc009vqd.3	-	75	10451	c.10411G>A	c.(10411-10413)Gga>Aga	p.G3471R	HSPG2_uc001bfj.3_Missense_Mutation_p.G3470R	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3470	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCCAAGGTCCATGGGCCTGG	0.502000														52			10		0	0	0.010729	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013051	247013051	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:247013051G>A	uc001ibv.2	-	32	6381	c.6284C>T	c.(6283-6285)gCc>gTc	p.A2095V	AHCTF1_uc009xgs.1_Missense_Mutation_p.A947V|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	2086	Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGAAGCTGTGGCGAGCAATCT	0.443000														63			10		0	0	0.008291	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378925	114378925	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:114378925C>T	uc003pwg.4	-	1	569	c.537G>A	c.(535-537)ttG>ttA	p.L179L	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Silent_p.L179L	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	179					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGACAATGATCAACAACTTGA	0.408000														188			13		0	0	0.013537	0	0
PITPNM2	57605	broad.mit.edu	37	12	123477212	123477212	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:123477212G>A	uc001uej.1	-	14	2437	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	PITPNM2_uc001uek.1_Silent_p.F746F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	746	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCCGCAGCTGGAAAACTGGGG	0.662000														58			8		0	0	0.003080	0	0
CNGB1	1258	broad.mit.edu	37	16	57918086	57918086	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:57918086C>T	uc002emt.2	-	32	3803	c.3738G>A	c.(3736-3738)agG>agA	p.R1246R	CNGB1_uc010cdh.2_Silent_p.R1240R	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1246					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCTTCTCCTCCCTTTCCTCCG	0.711000														87			13		0	0	0.004007	0	0
NLRP13	126204	broad.mit.edu	37	19	56413492	56413492	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:56413492G>A	uc010ygg.2	-	8	2723	c.2698C>T	c.(2698-2700)Ctg>Ttg	p.L900L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	900							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCAGATTCAGGTGTGTCAGG	0.552000														58			6		0	0	0.001168	0	0
OR2T6	254879	broad.mit.edu	37	1	248551181	248551181	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:248551181C>T	uc001iei.1	+	0	272	c.272C>T	c.(271-273)aCc>aTc	p.T91I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCGAGGGGACCATCTCTTTC	0.527000														68			15		0	0	0.004007	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250261	140250261	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140250261G>A	uc003lia.2	+	0	2431	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.E525K	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	540	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGACCACGAGGAGCTGGA	0.682000														145			27		0	0	0.007291	0	0
ZNF546	339327	broad.mit.edu	37	19	40521505	40521505	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:40521505C>T	uc002oms.2	+	6	2584	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P	ZNF546_uc002omt.2_Silent_p.P750P	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGAGAAACCCTATAAATGTA	0.383000														37			5		0	0	0.000602	0	0
SLC14A2	8170	broad.mit.edu	37	18	43216985	43216985	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:43216985C>T	uc002lbe.3	+	5	1497	c.681C>T	c.(679-681)atC>atT	p.I227I	SLC14A2_uc002lbb.3_Silent_p.I227I|SLC14A2_uc010dnj.3_Silent_p.I227I	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	227						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAATTCCATCTTCAGCAAGT	0.512000														232			36		0	0	0.007835	0	0
DLG5	9231	broad.mit.edu	37	10	79566601	79566601	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:79566601G>A	uc001jzk.3	-	25	4952	c.4882C>T	c.(4882-4884)Cag>Tag	p.Q1628*	DLG5_uc001jzi.3_Nonsense_Mutation_p.Q383*|DLG5_uc001jzj.3_Nonsense_Mutation_p.Q1043*|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1628	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AACGTGCCCTGGGGTAAGGTG	0.572000														73			14		0	0	0.003163	0	0
FGFR4	2264	broad.mit.edu	37	5	176519691	176519691	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:176519691G>A	uc003mfl.3	+	7	1130	c.963G>A	c.(961-963)cgG>cgA	p.R321R	FGFR4_uc003mfm.3_Silent_p.R321R|FGFR4_uc011dfu.2_Silent_p.R321R|FGFR4_uc011dfw.1_Silent_p.R321R|FGFR4_uc003mfo.3_Silent_p.R321R	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	321	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGTACCTGCGGAACGTGTCAG	0.642000										TSP Lung(9;0.080)				44			11		0	0	0.010729	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579992	35579992	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:35579992C>T	uc001bym.3	+	9	2707	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	ZMYM1_uc001byn.3_Missense_Mutation_p.S854F|ZMYM1_uc010ohu.2_Missense_Mutation_p.S835F|ZMYM1_uc001byo.3_Missense_Mutation_p.S494F|ZMYM1_uc009vut.3_Missense_Mutation_p.S779F	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	854						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACATTGGTTTCCAAATTTGAA	0.343000														37			6		0	0	0.001168	0	0
SEC14L1	6397	broad.mit.edu	37	17	75190973	75190973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:75190973C>T	uc010dhc.3	+	6	1009	c.689C>T	c.(688-690)cCc>cTc	p.P230L	SEC14L1_uc021udv.1_Missense_Mutation_p.P230L|SEC14L1_uc021udw.1_Missense_Mutation_p.P230L|SEC14L1_uc021udx.1_Missense_Mutation_p.P230L|SEC14L1_uc002jto.3_Missense_Mutation_p.P230L|SEC14L1_uc010wth.2_Missense_Mutation_p.P230L|SEC14L1_uc002jtm.3_Missense_Mutation_p.P230L|SEC14L1_uc010wti.2_Missense_Mutation_p.P196L	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	230					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCACCTGAGCCCGTGGTGGGC	0.632000														63			20		0	0	0.007413	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446914	169446914	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:169446914G>A	uc001gge.4	-	1	490	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	96					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GGTTTATAACGGAGGTAGTCT	0.428000														38			6		0	0	0.001168	0	0
PABPC1L	80336	broad.mit.edu	37	20	43561048	43561048	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:43561048G>A	uc010ggv.1	+	8	1387	c.1305G>A	c.(1303-1305)tgG>tgA	p.W435*	PABPC1L_uc010zwq.1_Intron|PABPC1L_uc002xmv.2_Intron|PABPC1L_uc002xmw.2_5'UTR|PABPC1L_uc002xmx.3_5'UTR	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	435	Pro-rich.						RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCCCAGGTGGACATCCCAGC	0.612000														67			21		0	0	0.012319	0	0
GRAP2	9402	broad.mit.edu	37	22	40356158	40356158	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:40356158G>A	uc003ayh.2	+	3	533	c.270G>A	c.(268-270)ggG>ggA	p.G90G	GRAP2_uc011aom.2_Silent_p.G64G|GRAP2_uc011aon.2_Intron|GRAP2_uc010gya.2_Silent_p.G90G|GRAP2_uc011aoo.2_Silent_p.G18G|GRAP2_uc011aop.2_Intron|GRAP2_uc011aoq.2_Missense_Mutation_p.G34R|GRAP2_uc003ayj.2_Silent_p.G90G	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	90	SH2.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCTCCCCAGGGGACTTCTCCA	0.557000														160			27		0	0	0.007291	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149113	142149113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142149113C>T	uc010lnw.1	-	1	240	c.158G>A	c.(157-159)tGg>tAg	p.W53*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTTGGTACCAGGACACACT	0.512000														112			10		0	0	0.013537	0	0
C5orf46	389336	broad.mit.edu	37	5	147281223	147281223	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:147281223C>T	uc010jgp.3	-	1	221	c.184G>A	c.(184-186)Gag>Aag	p.E62K	C5orf46_uc003lou.3_Missense_Mutation_p.E62K|C5orf46_uc003lov.4_Missense_Mutation_p.E62K	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	62						extracellular region		p.E62K(2)		NS(1)|lung(1)|prostate(1)	3						AGGATGAACTCGACTGCATTC	0.498000														45			5		0	0	0.000602	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:241262011G>A	uc001hyv.2	-	2	460	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_uc010pyh.2_Missense_Mutation_p.R18C|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.R44C|RGS7_uc009xgn.1_Missense_Mutation_p.R44C|RGS7_uc001hyw.2_Missense_Mutation_p.R44C	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(3)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000														39			7		0	0	0.004482	0	0
MIR1275	100302123	broad.mit.edu	37	6	33967763	33967763	+	RNA	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:33967763G>A	uc021yyr.1	-	0		c.66C>T								Homo sapiens microRNA 1275 (MIR1275), microRNA.																		TCTGCCTTGGGGAAAATAAGT	0.512000														59			8		0	0	0.004482	0	0
HAL	3034	broad.mit.edu	37	12	96371823	96371823	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:96371823G>A	uc001tem.1	-	17	1850	c.1553C>T	c.(1552-1554)tCt>tTt	p.S518F	HAL_uc010sux.1_Missense_Mutation_p.S518F|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.S310F	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	518					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGAGTCAACAGACGAGGGATG	0.572000														48			6		0	0	0.001168	0	0
PSG2	5670	broad.mit.edu	37	19	43585170	43585170	+	Missense_Mutation	SNP	C	T	T	rs150218743		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:43585170C>T	uc002ovr.3	-	1	465	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	98	Ig-like V-type.				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)				TGCTGTTTCTCGTCCACTATA	0.448000														275			46		0	0	0.014410	0	0
OR51D1	390038	broad.mit.edu	37	11	4661752	4661752	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:4661752G>A	uc010qyk.2	+	0	808	c.732G>A	c.(730-732)cgG>cgA	p.R244R		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R244R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCCTCTCGGAGGGCAGCAC	0.527000														84			19		0	0	0.007413	0	0
DZIP3	9666	broad.mit.edu	37	3	108406916	108406916	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:108406916C>T	uc003dxd.3	+	28	3665	c.3243C>T	c.(3241-3243)tcC>tcT	p.S1081S	DZIP3_uc003dxf.1_Silent_p.S1081S|DZIP3_uc011bhm.2_Silent_p.S532S	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	1081					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCAAGATTTCCCAGTTTATTG	0.348000														48			5		0	0	0.000602	0	0
GPR98	84059	broad.mit.edu	37	5	89938477	89938477	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:89938477G>A	uc003kju.3	+	11	2361	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	755					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCAAGTGCTGAAATCTGGAT	0.413000														81			11		0	0	0.001855	0	0
CRB1	23418	broad.mit.edu	37	1	197396610	197396610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:197396610G>A	uc001gtz.3	+	6	2364	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	CRB1_uc010poz.2_Missense_Mutation_p.D650N|CRB1_uc009wza.3_Missense_Mutation_p.D607N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.D200N|CRB1_uc001gub.1_Missense_Mutation_p.D368N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	719	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTTGGCCAGGATGACTCCAC	0.438000														39			7		0	0	0.003080	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455423	187455423	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:187455423G>A	uc003izd.1	-	1	491	c.473C>T	c.(472-474)gCc>gTc	p.A158V		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	158					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGGCAGGACGGCCGCCAGCGT	0.602000														75			7		0	0	0.003080	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715974	13715974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:13715974C>T	uc001rbt.2	-	12	4377	c.4198G>A	c.(4198-4200)Ggc>Agc	p.G1400S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1400					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.H1399N(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATTTGCTGCCATGGAGCAAG	0.637000														47			5		0	0	0.000602	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165620	134165620	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:134165620G>A	uc004cal.2	+	0	540	c.236G>A	c.(235-237)gGc>gAc	p.G79D		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 3 (PPAPDC3), mRNA.	79	interaction with MTOR (By similarity).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCCTTCAAGGGCATCGCCTTC	0.662000														58			18		0	0	0.008871	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741331	81741331	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:81741331C>T	uc001szo.2	-	17	2374	c.2213G>A	c.(2212-2214)cGg>cAg	p.R738Q	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.R664Q|PPFIA2_uc021rbh.1_Missense_Mutation_p.R639Q|PPFIA2_uc021rbi.1_Missense_Mutation_p.R738Q|PPFIA2_uc021rbj.1_Missense_Mutation_p.R738Q|PPFIA2_uc021rbk.1_Missense_Mutation_p.R720Q|PPFIA2_uc021rbl.1_Missense_Mutation_p.R738Q|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.R305Q|PPFIA2_uc021rbf.1_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	664										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GACTCCCATCCGATCCATTTC	0.498000														82			17		0	0	0.004990	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029697	13029697	+	Silent	SNP	C	T	T	rs151327623		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:13029697C>T	uc002wod.1	+	1	511	c.222C>T	c.(220-222)acC>acT	p.T74T	SPTLC3_uc002woc.3_Silent_p.T74T	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	74					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GAATTGGAACCCTGTTTGGCT	0.408000														79			33		0	0	0.012213	0	0
TRIM33	51592	broad.mit.edu	37	1	114964156	114964156	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:114964156G>C	uc001eew.3	-	10	2047	c.1963C>G	c.(1963-1965)Cga>Gga	p.R655G	TRIM33_uc010owr.2_Missense_Mutation_p.R245G|TRIM33_uc010ows.2_Missense_Mutation_p.R263G|TRIM33_uc001eex.3_Missense_Mutation_p.R655G	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	655					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGGACCTCGGTTTGCATTT	0.507000			T	RET	papillary thyroid									82			19		0	0	0.007413	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542791	133542791	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:133542791C>T	uc002ttp.3	-	13	1967	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	531							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAGGCCTTTCCTTGGGATAAA	0.517000														170			26		0	0	0.007291	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661369	176661369	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176661369C>A	uc001gkz.3	+	5	3703	c.2539C>A	c.(2539-2541)Ccc>Acc	p.P847T	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	847					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCATCCCCATTCCACC	0.512000														156			35		1.57019e-19	2.44987e-19	0.007835	1	0
HYDIN	54768	broad.mit.edu	37	16	70889126	70889126	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:70889126G>A	uc002ezr.3	-	72	12496	c.12345C>T	c.(12343-12345)ttC>ttT	p.F4115F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4116										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGAAAAATCGAACCCCTGCT	0.542000														76			12		0	0	0.003163	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188182	32188182	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:32188182C>T	uc003obb.3	-	6	1298	c.1159_splice	c.e6+1	p.G387_splice	NOTCH4_uc011dpu.2_Splice_Site|NOTCH4_uc011dpv.2_Splice_Site|NOTCH4_uc003obc.3_Splice_Site_p.G387_splice	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	387	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACCCCCATACCTGTGCGTCCA	0.597000														242			49		0	0	0.014410	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886764	9886764	+	Silent	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:9886764C>A	uc002koi.4	+	1	737	c.288C>A	c.(286-288)acC>acA	p.T96T	TXNDC2_uc002koh.4_Silent_p.T29T|TXNDC2_uc021ugx.1_Silent_p.T29T	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	96					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAGCAAACACCAGCCATCCCA	0.572000														38			7		0.00307968	0.00472217	0.003080	1	0
ST18	9705	broad.mit.edu	37	8	53049985	53049985	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:53049985G>A	uc003xqz.2	-	12	2383	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C	ST18_uc011ldq.1_Missense_Mutation_p.R390C|ST18_uc011ldr.1_Missense_Mutation_p.R708C|ST18_uc011lds.1_Missense_Mutation_p.R648C|ST18_uc003xra.2_Missense_Mutation_p.R743C	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	743						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGTACCTGCGATGAGATGCA	0.413000														34			6		0	0	0.001168	0	0
FAM135B	51059	broad.mit.edu	37	8	139263089	139263089	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:139263089C>T	uc003yuy.3	-	5	708	c.537G>A	c.(535-537)ttG>ttA	p.L179L	FAM135B_uc003yux.3_Silent_p.L80L|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	179										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATACCTGATCAATGGCTGCT	0.562000										HNSCC(54;0.14)				58			16		0	0	0.008871	0	0
DNAH7	56171	broad.mit.edu	37	2	196825163	196825163	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:196825163C>T	uc002utj.4	-	17	2813	c.2712G>A	c.(2710-2712)gcG>gcA	p.A904A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	904	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTCTCCATCGCCTTTTCAA	0.378000														85			18		0	0	0.007413	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95513821	95513821	+	RNA	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:95513821G>A	uc010fhp.3	-	4		c.584C>T						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TGTCTTGAGCGAAGACATCAA	0.353000														348			34		0	0	0.003755	0	0
NUP35	129401	broad.mit.edu	37	2	184024281	184024281	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:184024281C>T	uc002upf.3	+	7	907	c.804C>T	c.(802-804)atC>atT	p.I268I	NUP35_uc010zfs.2_Silent_p.I250I|NUP35_uc010zft.2_Silent_p.I150I|NUP35_uc002upg.3_Non-coding_Transcript	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	Homo sapiens nucleoporin 35kDa (NUP35), mRNA.	268					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						CACCACCAATCAAAACTCTAG	0.398000														53			8		0	0	0.003080	0	0
CILP2	148113	broad.mit.edu	37	19	19655927	19655927	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:19655927G>A	uc002nmw.4	+	7	2676	c.2591G>A	c.(2590-2592)gGc>gAc	p.G864D	CILP2_uc002nmv.4_Missense_Mutation_p.G858D	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	858						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.A864S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AAGCGTAACGGCTTCCGCATC	0.716000														48			9		0	0	0.004482	0	0
ZNF558	148156	broad.mit.edu	37	19	8921958	8921958	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:8921958C>T	uc002mkn.1	-	5	1438	c.1208G>A	c.(1207-1209)tGa>tAa	p.*403*	ZNF558_uc010xkh.1_Silent_p.*332*|ZNF558_uc010dwg.1_Silent_p.*403*	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TGCAGTAATTCATATCCATCT	0.378000														41			6		0	0	0.001168	0	0
TECPR1	25851	broad.mit.edu	37	7	97854178	97854178	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:97854178G>A	uc003upg.3	-	18	2830	c.2625C>T	c.(2623-2625)ttC>ttT	p.F875F		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	875						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAAATCCACGAACCAGTCGG	0.647000														3			3		0	0	0.004672	0	0
ATG2B	55102	broad.mit.edu	37	14	96761443	96761443	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:96761443C>T	uc001yfi.3	-	35	5645	c.5280G>A	c.(5278-5280)aaG>aaA	p.K1760K		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1760										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATTTGGCTCCTTTGAGGTAC	0.408000														84			13		0	0	0.002450	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130289092	130289092	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:130289092G>A	uc001qgg.4	-	1	1174	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	272	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CATCTTCTACGATCAGCACTT	0.527000														128			25		0	0	0.004656	0	0
RAB1B	81876	broad.mit.edu	37	11	66043344	66043344	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:66043344C>T	uc001ohf.3	+	4	444	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	AK125412_uc001ohg.1_Intron|CNIH2_uc001ohi.1_5'Flank|CNIH2_uc009yrb.1_5'Flank	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	117					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCAATAAGCTCCTGGTGGG	0.597000														20			4		0	0	0.009096	0	0
APOB	338	broad.mit.edu	37	2	21231540	21231540	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:21231540G>A	uc002red.3	-	25	8328	c.8200C>T	c.(8200-8202)Cct>Tct	p.P2734S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2734				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.P2734S(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAAGGTCAGGAACTTGAAAA	0.418000														319			45		0	0	0.009718	0	0
KCNN1	3780	broad.mit.edu	37	19	18084953	18084953	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:18084953C>T	uc002nht.3	+	2	566	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	KCNN1_uc010xqa.1_Missense_Mutation_p.P86S	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	86					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CTCGGGGAAACCCTCAAATGT	0.667000														35			6		0	0	0.004482	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077190	57077190	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:57077190C>A	uc001njr.3	-	4	3307	c.2995G>T	c.(2995-2997)Gag>Tag	p.E999*	TNKS1BP1_uc001njs.3_Nonsense_Mutation_p.E999*|TNKS1BP1_uc009ymd.1_Nonsense_Mutation_p.E450*	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	999	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCTTCTTCTCAAATTCCTCA	0.592000														44			10		7.48243e-07	1.15661e-06	0.006214	1	0
TBX22	50945	broad.mit.edu	37	X	79286536	79286536	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:79286536G>A	uc010nmg.1	+	8	1623	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	TBX22_uc004edi.1_Missense_Mutation_p.D377N|TBX22_uc004edj.1_Missense_Mutation_p.D497N	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	497					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTGAATGACGACAGTCAAGT	0.348000														7			5		0	0	0.000602	0	0
TRBV2	28620	broad.mit.edu	37	7	142001095	142001095	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142001095G>A	uc011kro.1	+	1	232	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GCAGAAAGTCGAGTTTCTGGT	0.393000														31			4		0	0	0.001168	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059752	79059752	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:79059752G>A	uc002bej.4	-	17	3039	c.2828C>T	c.(2827-2829)cCg>cTg	p.P943L	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	943	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P943S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCAGGTGGCCGGACAGGGTAC	0.657000														26			5		0	0	0.000602	0	0
C3orf20	84077	broad.mit.edu	37	3	14744758	14744758	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:14744758G>T	uc003byy.3	+	5	1319	c.867G>T	c.(865-867)ttG>ttT	p.L289F	C3orf20_uc003byz.3_Missense_Mutation_p.L167F|C3orf20_uc003bza.3_Missense_Mutation_p.L167F|C3orf20_uc003byx.2_Missense_Mutation_p.L289F	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	289						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGCAGGAGTTGTGTCGCCACA	0.622000														132			22		2.32416e-17	3.62199e-17	0.014323	1	0
RGPD3	653489	broad.mit.edu	37	2	107040937	107040937	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:107040937C>T	uc010ywi.1	-	19	3543	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1162	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTCAAATTTCTGCTTGAATT	0.448000														94			18		0	0	0.006122	0	0
NEDD4L	23327	broad.mit.edu	37	18	55992272	55992273	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:55992272_55992273CC>TT	uc002lgy.3	+	8	841_842	c.558_559CC>TT	c.(556-561)caccaa>caTTaa	p.Q187*	NEDD4L_uc002lgz.3_Nonsense_Mutation_p.Q187*|NEDD4L_uc002lgx.3_Nonsense_Mutation_p.Q187*|NEDD4L_uc010xee.1_Nonsense_Mutation_p.Q66*|NEDD4L_uc002lhc.2_Nonsense_Mutation_p.Q179*|NEDD4L_uc002lhd.2_Nonsense_Mutation_p.Q66*|NEDD4L_uc002lhb.2_Nonsense_Mutation_p.Q66*|NEDD4L_uc002lhe.2_Nonsense_Mutation_p.Q179*|NEDD4L_uc002lhf.3_Nonsense_Mutation_p.Q66*|NEDD4L_uc002lhg.3_Nonsense_Mutation_p.Q66*|NEDD4L_uc002lhh.2_Nonsense_Mutation_p.Q66*|NEDD4L_uc010dpm.1_Nonsense_Mutation_p.Q38*	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	187					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTTCTCAGCACCAAGAGGAACT	0.490000														224			39		0	0	0.004672	0	0
ERCC6	2074	broad.mit.edu	37	10	50740647	50740648	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:50740647_50740648GG>AT	uc001jhs.4	-	1	517_518	c.363_364CC>AT	c.(361-366)agccgt>agATgt	p.121_122SR>RC	ERCC6_uc009xoe.3_Missense_Mutation_p.121_122SR>RC|ERCC6_uc001jhu.3_Missense_Mutation_p.121_122SR>RC	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	121					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGGAGGCACGGCTGGCCTCAT	0.569000								Direct reversal of damage;Nucleotide excision repair (NER)						66			7		0	0	0.004672	0	0
IFNE	338376	broad.mit.edu	37	9	21481125	21481125	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:21481125C>T	uc003zpg.3	-	0	1188	c.569G>A	c.(568-570)gGa>gAa	p.G190E	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	190					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						CAAGGGTCTTCCTTGTTTGCT	0.473000														140			18		0	0	0.007413	0	0
CYP2R1	120227	broad.mit.edu	37	11	14902178	14902178	+	Silent	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:14902178A>T	uc001mlr.3	-	2	504	c.504T>A	c.(502-504)gcT>gcA	p.A168A	CYP2R1_uc001mlp.3_Silent_p.A51A|CYP2R1_uc001mlq.3_Non-coding_Transcript|CYP2R1_uc001mls.1_Silent_p.A113A	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily R, polypeptide 1 (CYP2R1), mRNA.	168					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ATGTTTCAATAGCATCATTGA	0.313000														10			3		0	0	0.004672	0	0
FGF23	8074	broad.mit.edu	37	12	4479873	4479873	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:4479873T>G	uc001qmq.1	-	2	538	c.392A>C	c.(391-393)cAg>cCg	p.Q131P		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	131					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GAAGTGATACTGAGGAGAGTG	0.587000														118			12		0	0	0.003163	0	0
METTL24	728464	broad.mit.edu	37	6	110620292	110620292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:110620292G>A	uc010kdu.1	-	3	619	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	METTL24_uc003pub.2_Missense_Mutation_p.R10C	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	207						extracellular region											GGATCAAAACGATGCACTTCA	0.468000														72			17		0	0	0.004990	0	0
PRIC285	85441	broad.mit.edu	37	20	62194861	62194861	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:62194861G>A	uc002yfm.2	-	8	6206	c.5314C>T	c.(5314-5316)Ccc>Tcc	p.P1772S	PRIC285_uc002yfl.1_Missense_Mutation_p.P1203S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1772					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GAGCCGTAGGGGACGGGGCAG	0.736000														7			5		0	0	0.000602	0	0
MMP3	4314	broad.mit.edu	37	11	102710958	102710958	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:102710958G>A	uc001phj.1	-	5	881	c.816C>T	c.(814-816)acC>acT	p.T272T		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	272					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GTACCAGGGGGGTCTCAGGGG	0.522000														35			5		0	0	0.000602	0	0
ERBB4	2066	broad.mit.edu	37	2	212576792	212576792	+	Silent	SNP	T	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:212576792T>G	uc002veg.1	-	8	1205	c.1107A>C	c.(1105-1107)ctA>ctC	p.L369L	ERBB4_uc002veh.1_Silent_p.L369L|ERBB4_uc010zji.1_Silent_p.L369L|ERBB4_uc010zjj.1_Silent_p.L369L|ERBB4_uc010fut.1_Silent_p.L369L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	369					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TACCAGTGACTAGAAAGATCA	0.343000										TSP Lung(8;0.080)				26			10		0	0	0.013537	0	0
OGDH	4967	broad.mit.edu	37	7	44741166	44741166	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:44741166C>T	uc003tln.3	+	19	2743	c.2584C>T	c.(2584-2586)Ctg>Ttg	p.L862L	OGDH_uc011kbx.2_Silent_p.L858L|OGDH_uc011kby.2_Silent_p.L712L|OGDH_uc003tlp.3_Silent_p.L873L|OGDH_uc011kbz.2_Silent_p.L657L	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	862					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCCCAAATCCCTGTTGCGCCA	0.498000														53			10		0	0	0.010729	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130288957	130288957	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:130288957G>A	uc001qgg.4	-	1	1309	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	317	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCTGTCTGGTGAGCAGGATGG	0.622000														118			14		0	0	0.002450	0	0
EGFL6	25975	broad.mit.edu	37	X	13636018	13636018	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:13636018C>T	uc004cvj.3	+	7	1235	c.948C>T	c.(946-948)ttC>ttT	p.F316F	EGFL6_uc004cvi.3_Silent_p.F316F|EGFL6_uc011mik.1_Silent_p.F217F	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	316					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	p.F316L(3)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGCAGCCCTTCAACTATGAAG	0.433000														36			22		0	0	0.004656	0	0
OR6F1	343169	broad.mit.edu	37	1	247876018	247876018	+	Silent	SNP	A	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:247876018A>G	uc001idj.1	-	0	40	c.40T>C	c.(40-42)Tta>Cta	p.L14L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGCCCAGTAAGAGAAAGTCC	0.458000														82			12		0	0	0.013537	0	0
VCAN	1462	broad.mit.edu	37	5	82815771	82815771	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:82815771G>A	uc003kii.3	+	6	2002	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G549E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	549	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.Y548Y(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTCACTATGGATTCACCTTG	0.413000														88			9		0	0	0.006214	0	0
KCTD20	222658	broad.mit.edu	37	6	36454665	36454665	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:36454665C>T	uc003ome.3	+	7	1364	c.973C>T	c.(973-975)Cct>Tct	p.P325S	KCTD20_uc011dtn.2_Missense_Mutation_p.P79S|KCTD20_uc010jwk.3_Missense_Mutation_p.P159S|KCTD20_uc011dto.2_Missense_Mutation_p.P79S|KCTD20_uc011dtm.2_Missense_Mutation_p.P180S	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	325						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TGCAGGTTACCCTACCTGTAA	0.433000														140			8		0	0	0.004482	0	0
TPTE2	93492	broad.mit.edu	37	13	20067628	20067628	+	Missense_Mutation	SNP	C	T	T	rs140148307		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:20067628C>T	uc001umd.3	-	2	236	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E9K|TPTE2_uc001ume.3_Missense_Mutation_p.E9K|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	9						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTAAATTCGTTTGTCTGT	0.358000														108			14		0	0	0.003163	0	0
DMBT1	1755	broad.mit.edu	37	10	124345794	124345794	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:124345794G>A	uc001lgk.1	+	15	1784	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	DMBT1_uc001lgl.1_Missense_Mutation_p.D550N|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.D560N|DMBT1_uc021qag.1_Missense_Mutation_p.D550N|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.D560N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	560	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D560D(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCCTGGATGACGTGCGCTG	0.592000														128			34		0	0	0.010818	0	0
PRKCB	5579	broad.mit.edu	37	16	24166021	24166021	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:24166021G>A	uc002dmd.3	+	9	1279	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	PRKCB_uc002dme.3_Missense_Mutation_p.R361Q	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	361	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTTTCAGAACGAAAAGGCACA	0.507000														54			5		0	0	0.003080	0	0
SAMD3	154075	broad.mit.edu	37	6	130497140	130497140	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:130497140C>T	uc003qbw.3	-	7	996	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	SAMD3_uc003qbx.3_Missense_Mutation_p.R223Q|SAMD3_uc010kfg.1_3'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	223										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTGAGGGCTCGTTTCCATAA	0.348000														66			12		0	0	0.003163	0	0
TET2	54790	broad.mit.edu	37	4	106156493	106156493	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:106156493C>T	uc011cez.2	+	2	1862	c.1457C>T	c.(1456-1458)cCa>cTa	p.P486L	TET2_uc003hxk.3_Missense_Mutation_p.P465L|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.P465L|TET2_uc010ilp.2_Missense_Mutation_p.P465L|TET2_uc021xql.1_Missense_Mutation_p.P465L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	465					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTCCTAATCCATCTACACAT	0.453000			"""Mis N, F"""		MDS									53			10		0	0	0.008291	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050235	120050235	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:120050235G>A	uc001ehv.1	+	1	281	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	46					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.E45D(1)|p.E45K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATTGAGAGAGGAATTTTCTAG	0.478000														89			16		0	0	0.006122	0	0
OR5T3	390154	broad.mit.edu	37	11	56020261	56020261	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:56020261C>T	uc010rjd.2	+	0	586	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TACATTTAGCCTGTCCTTCTG	0.433000														125			20		0	0	0.010504	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653538	46653538	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:46653538G>A	uc003bhh.3	-	0	5682	c.5682C>T	c.(5680-5682)tcC>tcT	p.S1894S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1894					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.N1893H(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCTCAGTGTGGAATTAAACC	0.393000														141			18		0	0	0.006122	0	0
ACTN4	81	broad.mit.edu	37	19	39191312	39191312	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:39191312C>T	uc002oja.2	+	1	354	c.235C>T	c.(235-237)Cga>Tga	p.R79*	ACTN4_uc010egc.2_Nonsense_Mutation_p.R79*|ACTN4_uc021uug.1_Intron	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	79	Actin-binding.|CH 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGAGGACTTCCGAGACGGGCT	0.607000														40			8		0	0	0.004482	0	0
MLL3	58508	broad.mit.edu	37	7	151878661	151878661	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:151878661C>T	uc003wla.3	-	35	6503	c.6284G>A	c.(6283-6285)aGt>aAt	p.S2095N	MLL3_uc003wkz.3_Missense_Mutation_p.S1156N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2095	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGAGGCTGACTATATGGATC	0.453000			N		medulloblastoma									50			9		0	0	0.004482	0	0
VCX3A	51481	broad.mit.edu	37	X	6451806	6451806	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:6451806C>T	uc004crs.3	-	2	848	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	VCX3A_uc010ndk.2_Intron|VCX3A_uc022bsg.1_Missense_Mutation_p.E161K	NM_016379	NP_057463	Q9NNX9	VCX3_HUMAN	Homo sapiens variable charge, X-linked 3A (VCX3A), mRNA.	181	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development	nucleolus				NS(1)|lung(2)|pancreas(1)	4						GGTAGTTCTTCCATCTCGCTC	0.597000														85			27		0	0	0.009535	0	0
RTDR1	27156	broad.mit.edu	37	22	23401696	23401696	+	Missense_Mutation	SNP	C	T	T	rs35881601	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:23401696C>T	uc002zwt.3	-	6	1149	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	331							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGTAAGGCTTCGGCCACTTGA	0.582000														99			20		0	0	0.007413	0	0
LRRN1	57633	broad.mit.edu	37	3	3886533	3886533	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:3886533C>T	uc003bpt.4	+	1	969	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.L70F	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	70	LRRNT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCCCAGTAACCTCTCTAGTGA	0.453000														62			6		0	0	0.001168	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672273	44672273	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:44672273G>A	uc010zxl.1	+	10	1383	c.1307_splice	c.e10-1	p.G436_splice	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Splice_Site_p.G413_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	436					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTTTGCAGGGATCATGGCTG	0.572000														78			13		0	0	0.001855	0	0
FER1L6	654463	broad.mit.edu	37	8	125029953	125029953	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:125029953G>A	uc003yqw.3	+	15	2214	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	670						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGCTGGCAGGAGCTGGTATG	0.388000														37			14		0	0	0.001855	0	0
PCDH17	27253	broad.mit.edu	37	13	58207500	58207500	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:58207500C>G	uc001vhq.1	+	0	1712	c.820C>G	c.(820-822)Ccc>Gcc	p.P274A	PCDH17_uc010aec.1_Missense_Mutation_p.P274A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	274	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGATGAAGGTCCCAATGGTGA	0.607000														58			11		0	0	0.010729	0	0
ZNF432	9668	broad.mit.edu	37	19	52538078	52538078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:52538078C>T	uc002pyk.3	-	4	1172	c.854G>A	c.(853-855)gGa>gAa	p.G285E		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGGTTTCTCTCCAGTATGAGT	0.383000														75			7		0	0	0.003080	0	0
PSG3	5671	broad.mit.edu	37	19	43233329	43233329	+	Missense_Mutation	SNP	G	A	A	rs149820484	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:43233329G>A	uc002oue.3	-	4	1321	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Missense_Mutation_p.R397C	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	397	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.R397C(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.448000														228			25		0	0	0.003954	0	0
FAM3C	10447	broad.mit.edu	37	7	121004237	121004237	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:121004237A>C	uc003vjx.3	-	5	526	c.278T>G	c.(277-279)aTg>aGg	p.M93R	FAM3C_uc010lkm.3_Missense_Mutation_p.M93R	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	Homo sapiens family with sequence similarity 3, member C (FAM3C), transcript variant 1, mRNA.	93					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					AACACCACTCATTAAACTGAA	0.279000														38			23		0	0	0.004656	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47189669	47189669	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:47189669C>T	uc003bib.3	+	2	557	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	TBC1D22A_uc010haf.3_Missense_Mutation_p.P101S|TBC1D22A_uc003bie.3_Missense_Mutation_p.P112S|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.P84S	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	131						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGCAGAGCCGCCCTCACCCCC	0.687000														11			3		0	0	0.009096	0	0
ASTN1	460	broad.mit.edu	37	1	176833426	176833426	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176833426C>T	uc001glc.3	-	22	4091	c.3879G>A	c.(3877-3879)gaG>gaA	p.E1293E	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1301					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGCTAGATCTCTTTGCTGT	0.517000														147			14		0	0	0.003163	0	0
GAD1	2571	broad.mit.edu	37	2	171709222	171709222	+	Splice_Site	SNP	A	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:171709222A>T	uc002ugi.3	+	13	1607	c.1185_splice	c.e13-2	p.R395_splice	GAD1_uc010fqc.3_Splice_Site_p.R14_splice	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	395					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGCTTCTTTCAGGGCCAACTC	0.478000														43			8		0	0	0.003080	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612200	16612200	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:16612200G>A	uc002gqk.1	+	4	905	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	277																	AAAATCTGAGGAAATGTGGAT	0.358000														67			7		0	0	0.013537	0	0
PAGE2B	389860	broad.mit.edu	37	X	55102477	55102477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:55102477G>A	uc004due.3	+	1	55	c.3G>A	c.(1-3)atG>atA	p.M1I	PAGE2B_uc022bxk.1_Missense_Mutation_p.M1I	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN	Homo sapiens P antigen family, member 2B (PAGE2B), mRNA.	1										lung(3)	3						TGGGAAATATGAGTGAGCATG	0.358000														17			9		0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141533714	141533714	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:141533714G>A	uc002tvj.1	-	32	6425	c.5453C>T	c.(5452-5454)aCt>aTt	p.T1818I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1818					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCCCAGAAGTCTTATTCCG	0.423000										TSP Lung(27;0.18)				61			15		0	0	0.004007	0	0
KLF6	1316	broad.mit.edu	37	10	3821774	3821774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:3821774G>A	uc001iha.3	-	3	1076	c.809C>T	c.(808-810)tCc>tTc	p.S270F	KLF6_uc010qaj.2_Missense_Mutation_p.P229S|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.S228F	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	270					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GTCAGACCTGGAAAAACACCT	0.587000														35			6		0	0	0.003080	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770048	112770048	+	Silent	SNP	C	T	T	rs139038807		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:112770048C>T	uc003kqm.2	-	0	681	c.489G>A	c.(487-489)cgG>cgA	p.R163R	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	163	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R163R(3)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CACTGTCATCCCGCAGGCAGC	0.572000														34			7		0	0	0.003080	0	0
C3orf30	152405	broad.mit.edu	37	3	118865782	118865782	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:118865782C>T	uc003ecb.1	+	0	786	c.746C>T	c.(745-747)cCa>cTa	p.P249L	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.P249L	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	249										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TCGTCCGTACCATCTGACCAA	0.483000														83			12		0	0	0.010729	0	0
NALCN	259232	broad.mit.edu	37	13	101763545	101763545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:101763545G>A	uc001vox.1	-	18	2414	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	742						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G741R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCCTCAAATGATCCGCTCAG	0.493000														59			12		0	0	0.013537	0	0
ITPR1	3708	broad.mit.edu	37	3	4808225	4808225	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:4808225C>T	uc003bqc.3	+	43	5861	c.5511C>T	c.(5509-5511)ttC>ttT	p.F1837F	ITPR1_uc021wsi.1_Silent_p.F1804F|ITPR1_uc021wsj.1_Silent_p.F1789F|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1852					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACTCCTTTTTCTGTCGCTTGA	0.423000														58			14		0	0	0.003163	0	0
BCL11A	53335	broad.mit.edu	37	2	60688062	60688062	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:60688062C>T	uc002sae.1	-	3	2213	c.1985G>A	c.(1984-1986)gGc>gAc	p.G662D	BCL11A_uc002sab.3_Missense_Mutation_p.G662D|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.G331D|BCL11A_uc010ypj.2_Missense_Mutation_p.G628D|BCL11A_uc002sad.1_Missense_Mutation_p.G510D|BCL11A_uc002saf.1_Missense_Mutation_p.G628D	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	662					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGCCGCGTAGCCGGCGAGCCA	0.622000			T	IGH@	B-CLL									319			48		0	0	0.014410	0	0
ENO3	2027	broad.mit.edu	37	17	4860302	4860303	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:4860302_4860303TC>GT	uc010vst.2	+	7	928_929	c.746_747TC>GT	c.(745-747)atc>aGT	p.I249S	ENO3_uc002gab.4_Missense_Mutation_p.I422S|ENO3_uc002gac.4_Missense_Mutation_p.I422S|ENO3_uc010vss.2_Missense_Mutation_p.I379S	NM_001193503	NP_001180432	P13929	ENOB_HUMAN	Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA.	422					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GACAAGGCAATCTTTGCTGGAC	0.574000											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			19		0	0	0.004672	0	0
F8	2157	broad.mit.edu	37	X	154128148	154128148	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:154128148C>T	uc004fmt.3	-	20	6437	c.6266G>A	c.(6265-6267)tGg>tAg	p.W2089*	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2089	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AACCTTGATCCAAGAAAAGGG	0.413000														15			4		0	0	0.000602	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363464	42363464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:42363464C>T	uc001zox.3	-	16	1828	c.1733G>A	c.(1732-1734)tGg>tAg	p.W578*		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	578	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TGGCTGCAGCCACGAGGCCTC	0.637000														34			8		0	0	0.006214	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28327191	28327191	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:28327191C>T	uc002ymg.3	-	2	1834	c.1105_splice	c.e2-1	p.D369_splice		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	369	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACATAAATCCTGCCCAGGAG	0.478000														29			12		0	0	0.013537	0	0
RNFT2	84900	broad.mit.edu	37	12	117271707	117271707	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:117271707C>T	uc009zwn.3	+	7	1226	c.993C>T	c.(991-993)ttC>ttT	p.F331F	RNFT2_uc001twb.4_Silent_p.F331F|RNFT2_uc001twa.4_Silent_p.F241F|RNFT2_uc001twc.4_Silent_p.F79F	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	331						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ACAGCTACTTCCTGGGCGGGG	0.592000														33			6		0	0	0.003080	0	0
NOL3	8996	broad.mit.edu	37	16	67208641	67208641	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:67208641G>A	uc010vjd.2	+	2	596	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	NOL3_uc010vjc.2_Missense_Mutation_p.G138D|NOL3_uc002erp.3_Missense_Mutation_p.G138D	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	135					RNA splicing|anti-apoptosis|apoptosis|mRNA processing	cytosol|nucleolus	RNA binding|identical protein binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GAGGCCGGGGGCCCTGAGGGC	0.697000														22			5		0	0	0.000602	0	0
ANAPC1	64682	broad.mit.edu	37	2	112541923	112541923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:112541923G>A	uc002thi.3	-	40	5219	c.4972C>T	c.(4972-4974)Cca>Tca	p.P1658S		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1658					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGGAGTTCTGGAAGAAGGGTA	0.438000														97			13		0	0	0.003163	0	0
ALMS1	7840	broad.mit.edu	37	2	73717795	73717795	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:73717795C>T	uc002sje.1	+	9	8817	c.8706C>T	c.(8704-8706)caC>caT	p.H2902H	ALMS1_uc002sjf.1_Silent_p.H2860H|ALMS1_uc002sjg.3_Silent_p.H2290H|ALMS1_uc002sjh.1_Silent_p.H2290H	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2902					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGAGGAAACACCATTCTCCCT	0.433000														105			30		0	0	0.009535	0	0
GJA5	2702	broad.mit.edu	37	1	147230993	147230993	+	Silent	SNP	C	G	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:147230993C>G	uc021ovl.1	-	0	354	c.354G>C	c.(352-354)cgG>cgC	p.R118R	GJA5_uc001eps.1_Silent_p.R118R|GJA5_uc001ept.1_Silent_p.R118R	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	118					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R118W(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCCAGAGCCCCGGACCTCTT	0.617000														62			20		0	0	0.007413	0	0
ATP10D	57205	broad.mit.edu	37	4	47574913	47574913	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:47574913G>A	uc003gxk.1	+	17	3429	c.3265G>A	c.(3265-3267)Gtt>Att	p.V1089I	ATP10D_uc003gxl.1_Missense_Mutation_p.V337I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1089					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGACTTTGCCGTTTCTCAGTT	0.438000														242			47		0	0	0.014410	0	0
SRRM4	84530	broad.mit.edu	37	12	119554778	119554778	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:119554778G>A	uc001txa.2	+	3	790	c.402G>A	c.(400-402)aaG>aaA	p.K134K		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	134	Lys-rich.|Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCAAGAAAAAGAAGAAGAAAA	0.488000														40			6		0	0	0.001984	0	0
ATP8A1	10396	broad.mit.edu	37	4	42415007	42415007	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:42415007C>T	uc003gwr.2	-	36	3653	c.3421G>A	c.(3421-3423)Gaa>Aaa	p.E1141K	ATP8A1_uc003gwq.2_Missense_Mutation_p.E367K|ATP8A1_uc003gws.2_Missense_Mutation_p.E1126K|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1141					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATTCCATTTTCATCTTGAGAG	0.433000														22			5		0	0	0.000602	0	0
PREX2	80243	broad.mit.edu	37	8	69021761	69021761	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:69021761G>A	uc003xxv.1	+	24	3076	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	PREX2_uc011lez.1_Missense_Mutation_p.E952K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1017					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTGCTAAAAGAAGAAGACTT	0.478000														51			9		0	0	0.006214	0	0
FAR2	55711	broad.mit.edu	37	12	29460616	29460616	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:29460616G>A	uc001rit.3	+	4	839	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FAR2_uc001ris.4_Missense_Mutation_p.E191K|FAR2_uc009zjm.3_Missense_Mutation_p.E94K|AX746523_uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	191					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TATTATTGACGAGATTACACC	0.403000														66			8		0	0	0.006214	0	0
ERF	2077	broad.mit.edu	37	19	42752971	42752971	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:42752971C>T	uc002ote.4	-	3	1451	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	ERF_uc002otd.4_Silent_p.S162S	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	431					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				ACTCGCCTTCCGAGATGGGCT	0.662000														148			22		0	0	0.002780	0	0
TRIM2	23321	broad.mit.edu	37	4	154217084	154217084	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:154217084G>A	uc003inh.2	+	5	1491	c.1406G>A	c.(1405-1407)gGg>gAg	p.G469E	TRIM2_uc003ing.2_Missense_Mutation_p.G442E	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	442						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AAGTCCCCGGGGAGCGGCCAC	0.537000														37			9		0	0	0.006214	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180721	19180721	+	Missense_Mutation	SNP	C	T	T	rs35605435		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:19180721C>T	uc001bba.1	-	2	1244	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	415					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGGGGTAGACCACCCTCTTG	0.617000														27			8		0	0	0.004482	0	0
PLCH1	23007	broad.mit.edu	37	3	155311961	155311961	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:155311961G>A	uc021xge.1	-	2	480	c.203C>T	c.(202-204)tCc>tTc	p.S68F	PLCH1_uc021xgd.1_Missense_Mutation_p.S68F|PLCH1_uc021xgf.1_Missense_Mutation_p.S50F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	68	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.A67S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGTAAATGGAATCAATAAG	0.423000														56			8		0	0	0.006214	0	0
MRO	83876	broad.mit.edu	37	18	48327812	48327812	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:48327812C>T	uc010dpa.3	-	4	683	c.534G>A	c.(532-534)ggG>ggA	p.G178G	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Silent_p.G164G|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Silent_p.G164G	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	164						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCCATTTCCTCCCGGCAAAGG	0.468000														126			20		0	0	0.007413	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214953	140214953	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140214953C>T	uc003lhq.2	+	0	985	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.P329S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	344	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTTCCCACCCCTGGCTGG	0.483000														90			11		0	0	0.013537	0	0
OR51A2	401667	broad.mit.edu	37	11	4976683	4976683	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:4976683G>A	uc010qyt.2	-	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGAACAGGAAGATGCTTA	0.463000														33			8		0	0	0.008291	0	0
EYA2	2139	broad.mit.edu	37	20	45702823	45702824	+	Nonsense_Mutation	DNP	CC	AT	AT	rs149474635		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:45702823_45702824CC>AT	uc002xsm.3	+	6	884_885	c.510_511CC>AT	c.(508-513)ccccag>ccATag	p.Q171*	EYA2_uc010ghp.3_Nonsense_Mutation_p.Q171*|EYA2_uc002xsq.3_Nonsense_Mutation_p.Q171*	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	171					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.P170H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCGGCTTCCCCCAGAGCCAGTA	0.599000														75			8		0	0	0.004672	0	0
FUT11	170384	broad.mit.edu	37	10	75535399	75535399	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:75535399T>C	uc001jva.3	+	2	1478	c.1435T>C	c.(1435-1437)Tgg>Cgg	p.W479R	FUT11_uc001juz.1_3'UTR	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	Homo sapiens fucosyltransferase 11 (alpha (1,3) fucosyltransferase) (FUT11), mRNA.	479					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GACGAAATTTTGGGATTACCT	0.453000														71			9		0	0	0.008291	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612490	96612490	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:96612490G>A	uc010qnz.2	+	9	1292	c.1292_splice	c.e9-1	p.G431_splice	CYP2C19_uc010qny.2_Splice_Site_p.G409_splice	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	431					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTATTTTCAGGAAAACGGATT	0.423000														30			4		0	0	0.009096	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129688901	129688901	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:129688901G>A	uc003vpi.3	-	1	257	c.230C>T	c.(229-231)gCc>gTc	p.A77V		NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	77					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	p.E76V(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCTAAAGAAGGCTTCTTTGCT	0.413000														145			13		0	0	0.001855	0	0
DENND5A	23258	broad.mit.edu	37	11	9225822	9225822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:9225822G>A	uc001mhl.3	-	3	591	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	DENND5A_uc010rbw.2_Missense_Mutation_p.P112S|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	112	UDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTCCCTGGGATCAGCCTGG	0.498000														61			10		0	0	0.008291	0	0
OR4D2	124538	broad.mit.edu	37	17	56247769	56247769	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:56247769C>T	uc010wnp.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCATGATCTTCGTTCCAAGCA	0.537000														121			11		0	0	0.013537	0	0
KRT85	3891	broad.mit.edu	37	12	52760942	52760942	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:52760942C>T	uc001sag.3	-	0	368	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	83	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCGGAGCGGTAGCCGAA	0.692000														70			13		0	0	0.001855	0	0
MIR205HG	642587	broad.mit.edu	37	1	209603818	209603818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:209603818G>A	uc009xcn.3	+	2	543	c.160G>A	c.(160-162)Gag>Aag	p.E54K	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		GACCCCACATGAGGGTGAGGC	0.532000														87			18		0	0	0.008871	0	0
KAT6A	7994	broad.mit.edu	37	8	41812837	41812837	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:41812837G>A	uc010lxb.3	-	9	2119	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	KAT6A_uc010lxc.3_Silent_p.S525S|KAT6A_uc003xon.4_Silent_p.S525S|KAT6A_uc010lxd.3_Silent_p.S525S	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	525	Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S525S(1)									GAGGATATGGGGAGGAGTACC	0.463000														52			7		0	0	0.004482	0	0
OR6C68	403284	broad.mit.edu	37	12	55886277	55886277	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:55886277G>A	uc010spo.2	+	0	131	c.131G>A	c.(130-132)gGg>gAg	p.G44E		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AGTGTAACAGGGAAACTGACC	0.393000														84			12		0	0	0.001855	0	0
MC5R	4161	broad.mit.edu	37	18	13826627	13826627	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:13826627C>T	uc010xaf.2	+	0	1085	c.863C>T	c.(862-864)tCc>tTc	p.S288F		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	288					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATGTGTAATTCCGTGATGGAC	0.458000														135			11		0	0	0.013537	0	0
SEC24A	10802	broad.mit.edu	37	5	134059307	134059307	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:134059307C>T	uc003kzs.3	+	21	3406	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	SEC24A_uc011cxu.2_Silent_p.F802F	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	1038					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAATAGCTTTCATCTCTTGGC	0.338000														97			16		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9047175	9047175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:9047175C>T	uc002mkp.3	-	4	34660	c.34456G>A	c.(34456-34458)Gag>Aag	p.E11486K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11488	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTTGTCTCTGGTTCATAT	0.507000														95			12		0	0	0.002450	0	0
CACNG3	10368	broad.mit.edu	37	16	24373082	24373082	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:24373082C>T	uc002dmf.3	+	3	2048	c.846C>T	c.(844-846)tcC>tcT	p.S282S		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	282					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S282S(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCCTCAACTCCGACCGGGACC	0.552000														83			17		0	0	0.010504	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921158	12921158	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:12921158C>T	uc001aum.1	+	3	1036	c.949C>T	c.(949-951)Cca>Tca	p.P317S		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	317										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCAGTTCCCAAGCCTCGG	0.493000														212			29		0	0	0.006320	0	0
ANK2	287	broad.mit.edu	37	4	114117612	114117612	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:114117612C>T	uc003ibe.4	+	2	375	c.275C>T	c.(274-276)tCt>tTt	p.S92F	ANK2_uc003ibd.4_Missense_Mutation_p.S71F|ANK2_uc003ibf.4_Missense_Mutation_p.S92F|ANK2_uc003ibc.2_Missense_Mutation_p.S68F|ANK2_uc011cgb.1_Missense_Mutation_p.S107F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	92					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGTGGATTCTGCCACTAAG	0.423000														32			9		0	0	0.006214	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762578	81762578	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:81762578C>T	uc001szo.2	-	12	1569	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.D396N|PPFIA2_uc021rbh.1_Missense_Mutation_p.D371N|PPFIA2_uc021rbi.1_Missense_Mutation_p.D470N|PPFIA2_uc021rbj.1_Missense_Mutation_p.D470N|PPFIA2_uc021rbk.1_Missense_Mutation_p.D452N|PPFIA2_uc021rbl.1_Missense_Mutation_p.D470N|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.D37N|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	396										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGAAGTCTATCAACCGTATCC	0.353000														20			4		0	0	0.009096	0	0
SLC33A1	9197	broad.mit.edu	37	3	155551305	155551305	+	Silent	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:155551305G>A	uc003fan.4	-	3	1680	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	SLC33A1_uc003fao.2_Silent_p.F406F|SLC33A1_uc003fap.1_5'Flank	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	406					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATATATAGGGAATCCCCCTT	0.383000														71			18		0	0	0.004990	0	0
DRD3	1814	broad.mit.edu	37	3	113890585	113890585	+	Missense_Mutation	SNP	C	G	G	rs76256558		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:113890585C>G	uc003ebd.2	-	2	678	c.255G>C	c.(253-255)tgG>tgC	p.W85C	DRD3_uc010hqn.1_Missense_Mutation_p.W85C|DRD3_uc003ebb.1_Missense_Mutation_p.W85C|DRD3_uc003ebc.1_Missense_Mutation_p.W85C	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	85					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGTATACCACCCAGGGCATCA	0.547000														96			13		0	0	0.003163	0	0
C18orf34	374864	broad.mit.edu	37	18	30873194	30873194	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:30873194C>T	uc010xbr.1	-	10	1247	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	C18orf34_uc002kxn.2_Missense_Mutation_p.E369K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E369K|C18orf34_uc002kxp.3_Missense_Mutation_p.E369K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	369										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ACTTCCTCTTCCTTCTCCTCA	0.294000														18			5		0	0	0.000602	0	0
TECTA	7007	broad.mit.edu	37	11	120989022	120989022	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:120989022C>T	uc010rzo.2	+	5	798	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	266	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAGGACAATTCCTTCGGCGAG	0.473000														51			6		0	0	0.001168	0	0
SPHKAP	80309	broad.mit.edu	37	2	228858297	228858297	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:228858297C>T	uc002vpq.2	-	8	4721	c.4674G>A	c.(4672-4674)atG>atA	p.M1558I	SPHKAP_uc002vpp.2_Intron|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1558						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTCCAGATCCATAATGCCAA	0.443000														9			3		0	0	0.009096	0	0
GPR133	283383	broad.mit.edu	37	12	131616322	131616322	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:131616322C>T	uc010tbm.2	+	21	2883	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	GPR133_uc001uit.4_Missense_Mutation_p.A743V|GPR133_uc009zyo.3_Missense_Mutation_p.A25V|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	743					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGATCAGCGCCGACAACTAC	0.572000														51			5		0	0	0.003080	0	0
LAMA2	3908	broad.mit.edu	37	6	129635944	129635944	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:129635944G>A	uc021zfb.1	+	24	3660	c.3555_splice	c.e24+1	p.W1185_splice	LAMA2_uc003qbn.3_Splice_Site_p.W1185_splice|LAMA2_uc003qbo.3_Splice_Site_p.W1185_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1185	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGGACGTGGGTGAGTAGGGA	0.483000														77			19		0	0	0.003330	0	0
FBN2	2201	broad.mit.edu	37	5	127627235	127627235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:127627235C>T	uc003kuu.3	-	48	6717	c.6278G>A	c.(6277-6279)gGa>gAa	p.G2093E		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2093	EGF-like 35; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCATCTCCGTCCATTATCAGA	0.438000														80			6		0	0	0.001984	0	0
WNT5B	81029	broad.mit.edu	37	12	1748967	1748967	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:1748967C>T	uc009zdq.3	+	3	688	c.446C>T	c.(445-447)cCc>cTc	p.P149L	WNT5B_uc001qjj.3_Missense_Mutation_p.P149L|WNT5B_uc001qjk.3_Missense_Mutation_p.P149L|WNT5B_uc001qjl.3_Missense_Mutation_p.P149L	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	149					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			ACGGCGCGGCCCAAGGACCTG	0.721000														40			8		0	0	0.006214	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976026	120976026	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:120976026C>T	uc003eec.4	+	16	1818	c.1678C>T	c.(1678-1680)Cag>Tag	p.Q560*	STXBP5L_uc011bji.2_Nonsense_Mutation_p.Q560*	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	560					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTACGACTTCAGTATGATGT	0.333000														63			6		0	0	0.001168	0	0
MAP3K11	4296	broad.mit.edu	37	11	65373447	65373447	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:65373447G>A	uc001oew.3	-	6	2202	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	MAP3K11_uc001oev.3_5'UTR|MAP3K11_uc010rol.2_Missense_Mutation_p.S313F|MAP3K11_uc001oex.1_Missense_Mutation_p.S77F	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	570					G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						AGGCTTGGGGGAACTGGGACC	0.627000														26			4		0	0	0.009096	0	0
CACNA1E	777	broad.mit.edu	37	1	181754883	181754883	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:181754883C>T	uc009wxt.3	+	42	5909	c.5714C>T	c.(5713-5715)tCa>tTa	p.S1905L	CACNA1E_uc001gow.3_Missense_Mutation_p.S1905L|CACNA1E_uc009wxs.3_Missense_Mutation_p.S1886L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1905					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGGAGCCTTCATCTCTGCCT	0.502000														207			43		0	0	0.014410	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528319	65528319	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:65528319C>T	uc003xvj.2	-	2	983	c.779G>A	c.(778-780)tGg>tAg	p.W260*		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	260					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AACTTCTGACCATCCTTGCAT	0.388000														82			12		0	0	0.001855	0	0
NCAPH	23397	broad.mit.edu	37	2	97017715	97017715	+	Silent	SNP	C	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:97017715C>T	uc002svz.1	+	6	951	c.867C>T	c.(865-867)ctC>ctT	p.L289L	NCAPH_uc010fhu.1_Silent_p.L265L|NCAPH_uc010fhv.1_Silent_p.L278L|NCAPH_uc010yum.1_Silent_p.L265L|NCAPH_uc010yun.1_Silent_p.L153L	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	289					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GAGAACCTCTCGAGTTGCCAG	0.468000														90			11		0	0	0.008291	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255315	25255315	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:25255315G>A	uc002dod.4	-	5	2179	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.S387F	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	591					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGTGCTGGGGGAAGGAGCAGA	0.547000														65			7		0	0	0.001984	0	0
NBR1	4077	broad.mit.edu	37	17	41341632	41341632	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:41341632G>A	uc010whv.2	+	7	591	c.508G>A	c.(508-510)Gtt>Att	p.V170I	NBR1_uc010czd.3_Missense_Mutation_p.V170I|NBR1_uc010diz.3_Missense_Mutation_p.V170I|NBR1_uc010whu.2_Missense_Mutation_p.V170I|NBR1_uc010whw.2_Missense_Mutation_p.V149I|NBR1_uc010whx.1_5'Flank	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	170					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TAACGAAACGGTTGAGAAGCT	0.393000														92			17		0	0	0.004007	0	0
CAMTA2	23125	broad.mit.edu	37	17	4876977	4876977	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:4876977G>C	uc010cku.2	-	12	2585	c.2173C>G	c.(2173-2175)Cgt>Ggt	p.R725G	CAMTA2_uc002gag.2_Missense_Mutation_p.R701G|CAMTA2_uc002gah.2_Missense_Mutation_p.R702G|CAMTA2_uc002gai.2_Missense_Mutation_p.R704G|CAMTA2_uc010ckv.1_Missense_Mutation_p.R349G	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	702					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGGGCCAGACGTTCAGGACCC	0.627000														48			8		0	0	0.006214	0	0
KRT84	3890	broad.mit.edu	37	12	52778976	52778976	+	Missense_Mutation	SNP	G	A	A	rs140458726		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:52778976G>A	uc001sah.1	-	0	442	c.394C>T	c.(394-396)Cca>Tca	p.P132S		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	132	Head.					keratin filament	structural constituent of epidermis	p.P132S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGGCTGCTGGGACTCCAACC	0.567000														143			30		0	0	0.009535	0	0
CD48	962	broad.mit.edu	37	1	160648919	160648919	+	Silent	SNP	G	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:160648919G>T	uc001fwn.3	-	3	687	c.655C>A	c.(655-657)Cgg>Agg	p.R219R		NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	219					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCAAAGGACCGGGCTGAAAGA	0.468000														67			8		1.06961e-07	1.65722e-07	0.003080	1	0
GIGYF2	26058	broad.mit.edu	37	2	233697764	233697766	+	In_Frame_Del	DEL	GCA	-	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:233697764_233697766delGCA	uc002vtj.4	+	23	3057_3059	c.2790_2792delGCA	c.(2788-2793)ttgcag>ttg	p.Q938del	GIGYF2_uc002vti.4_In_Frame_Del_p.Q917del|GIGYF2_uc002vtk.4_In_Frame_Del_p.Q917del|GIGYF2_uc002vth.4_In_Frame_Del_p.Q911del|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_In_Frame_Del_p.Q748del|GIGYF2_uc002vtq.4_In_Frame_Del_p.Q250del	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	917	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCCGGAGGTTgcagcagcagcag	0.547													---	4	---	---	2	---					
TACC3	10460	broad.mit.edu	37	4	1742558	1742559	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:1742558_1742559insT	uc003gdo.3	+	12	2223_2224	c.2068_2069insT	c.(2068-2070)gttfs	p.V690fs	TACC3_uc003gdp.3_Frame_Shift_Ins_p.V330fs	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	690						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCAAGAGGAAGTTCAGAAGCAG	0.470													---	83	---	---	9	---					
PTPRZ1	5803	broad.mit.edu	37	7	121653001	121653001	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:121653001delA	uc003vjy.3	+	11	4296	c.3901delA	c.(3901-3903)aacfs	p.N1301fs	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1301					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTGGAGATTAACCAGGCCCA	0.368													---	54	---	---	16	---					
IGSF9B	22997	broad.mit.edu	37	11	133790896	133790904	+	In_Frame_Del	DEL	CAGGGCGGC	-	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:133790896_133790904delCAGGGCGGC	uc001qgx.4	-	17	2947_2955	c.2716_2724delGCCGCCCTG	c.(2716-2724)gccgccctgdel	p.AAL906del		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	906						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGGGACTTCAGGGCGGCCACAGATGTG	0.675													---	121	---	---	7	---					
JA660597	0	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	-	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrY:10037863delC	uc022cjg.1	+	0		c.18delC								Homo sapiens piRNA piR-32678, complete sequence.																		ATCGACACTTCGAACGCACTT	0.552													---	5	---	---	3	---