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
SHANK3	85358	broad.mit.edu	37	22	51143466	51143466	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:51143466C>T	uc003bne.1	+	16	2019	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	SHANK3_uc003bnf.1_Silent_p.L128L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	673										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCAACCGCCTCGTCATGAAGG	0.617000														49			4		0	0	1	0	0
RAB22A	57403	broad.mit.edu	37	20	56886156	56886156	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr20:56886156C>T	uc002xyz.3	+	1	356	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	Homo sapiens RAB22A, member RAS oncogene family (RAB22A), mRNA.	32					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			CAGTTTTGATCCAAACATCAA	0.388000														68			5		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73726977	73726977	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:73726977G>A	uc002jpg.3	+	8	1211	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	ITGB4_uc002jph.3_Missense_Mutation_p.V342I|ITGB4_uc010dgo.3_Missense_Mutation_p.V342I|ITGB4_uc002jpi.4_Missense_Mutation_p.V342I|ITGB4_uc010dgp.1_Missense_Mutation_p.V342I|ITGB4_uc002jpj.3_Missense_Mutation_p.V342I|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	342					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)			CTATTTCCCTGTCTCCTCACT	0.562000														115			8		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35774042	35774042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:35774042G>A	uc003jjo.3	+	27	4108	c.3997G>A	c.(3997-3999)Gag>Aag	p.E1333K	SPEF2_uc003jjp.1_Missense_Mutation_p.E819K|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1333					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTAACAACAGAGGAAATTGC	0.388000														21			4		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906143	164906143	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr3:164906143G>T	uc003fej.4	-	1	2920	c.2476C>A	c.(2476-2478)Cag>Aag	p.Q826K	SLITRK3_uc003fek.3_Missense_Mutation_p.Q826K|SLITRK3_uc021xgy.1_Missense_Mutation_p.Q826K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	826						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGTTAAGCTGGGAGCTGGAC	0.547000										HNSCC(40;0.11)				73			5		1.23904e-05	1.26242e-05	1	1	0
C20orf151	140893	broad.mit.edu	37	20	60987794	60987794	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr20:60987794G>A	uc002ycw.2	-	12	1959	c.1762C>T	c.(1762-1764)Cag>Tag	p.Q588*		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	588										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)			GCCTCCGCCTGGGAGCTCAGG	0.701000														56			7		0	0	1	0	0
FAM123A	219287	broad.mit.edu	37	13	25744177	25744177	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr13:25744177G>A	uc001uqb.3	-	0	1681	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	FAM123A_uc001uqa.3_Silent_p.S408S|FAM123A_uc001uqc.3_Silent_p.S408S	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	527								p.L526L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTGGCGTGGTGGAGTCCCAGT	0.642000														72			8		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708830	203708830	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:203708830C>T	uc001gzw.3	+	20	4363	c.3466C>T	c.(3466-3468)Cct>Tct	p.P1156S	ATP2B4_uc001gzv.3_3'UTR|ATP2B4_uc001gzx.3_Missense_Mutation_p.P223S|ATP2B4_uc009xar.3_3'UTR	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1192					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAGGAAAATCCTGACAAGGC	0.498000														32			3		0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209010522	209010522	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:209010522G>A	uc002vcp.4	-	1	261	c.228C>T	c.(226-228)atC>atT	p.I76I	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	76	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGCAGGAGCGGATGGAGTCGC	0.507000														64			5		0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11614446	11614446	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:11614446C>T	uc011kxc.1	+	4	1460	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	GATA4_uc003wub.1_Missense_Mutation_p.P128S|GATA4_uc003wuc.2_Missense_Mutation_p.P334S	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	334					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CATTCCAGCTCCTTCAGGCAG	0.612000														101			12		0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291979	22291979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:22291979C>T	uc004dai.2	+	0	950	c.871C>T	c.(871-873)Cca>Tca	p.P291S		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	291	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCCATCATCACCAGTAAACCA	0.473000														38			6		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240036892	240036892	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:240036892G>A	uc002vyk.4	-	12	2425	c.1633C>T	c.(1633-1635)Ccg>Tcg	p.P545S	HDAC4_uc010fyz.1_Missense_Mutation_p.P540S|HDAC4_uc010zoa.1_Missense_Mutation_p.P545S|HDAC4_uc010fza.2_Missense_Mutation_p.P550S|HDAC4_uc010fyy.3_Missense_Mutation_p.P502S|HDAC4_uc010znz.1_Missense_Mutation_p.P428S	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	545					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P545S(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TTCTGCCCCGGCAGCCGGTCC	0.701000														112			8		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719536	95719536	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr10:95719536C>T	uc009xuj.2	-	0	2137	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		CAGTCATTATCCAGTGTGATA	0.537000														17			3		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3641734	3641734	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:3641734C>T	uc002lyj.2	-	14	1845	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	PIP5K1C_uc010xhq.2_Missense_Mutation_p.E586K|PIP5K1C_uc010xhr.2_Missense_Mutation_p.E586K	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	586					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ACCACAATCTCCACGCTGCAC	0.682000														45			8		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8119365	8119365	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:8119365G>A	uc001mga.3	+	7	1139	c.990G>A	c.(988-990)ggG>ggA	p.G330G	TUB_uc010rbk.2_Silent_p.G336G|TUB_uc001mfy.3_Silent_p.G385G	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	330					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCTATATCGGGAAACTGCGGT	0.552000														65			4		0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495964	6495964	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:6495964G>A	uc002mfg.1	-	3	653	c.546C>T	c.(544-546)ccC>ccT	p.P182P	TUBB4A_uc002mff.1_Silent_p.P110P|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	182					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TGGCGTTGTAGGGCTCCACCA	0.577000														98			8		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177098790	177098790	+	Silent	SNP	G	A	A	rs145267415		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:177098790G>A	uc003iuj.3	+	29	4137	c.3834G>A	c.(3832-3834)acG>acA	p.T1278T	WDR17_uc003ium.4_Silent_p.T1239T|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Silent_p.T489T	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1278										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTGTCTTACGGGATTAAAAA	0.318000														20			4		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018434	161018434	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:161018434C>T	uc001fxl.3	-	11	2723	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.G639R|ARHGAP30_uc009wtx.3_Missense_Mutation_p.G466R	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	793	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTCTGACTCCCTCAGCCTCT	0.527000														115			10		0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50172187	50172187	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:50172187C>T	uc002ppa.3	+	3	1264	c.582C>T	c.(580-582)ccC>ccT	p.P194P	BCL2L12_uc002ppb.3_Silent_p.P193P	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	194					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		AATCTCCGCCCAGCCCAGGTG	0.572000														49			5		0	0	1	0	0
DUSP18	150290	broad.mit.edu	37	22	31059547	31059547	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:31059547C>T	uc003aiu.3	-	1	945	c.444G>A	c.(442-444)tgG>tgA	p.W148*	SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Non-coding_Transcript|DUSP18_uc003aiw.1_Nonsense_Mutation_p.W148*|DUSP18_uc021wnv.1_Nonsense_Mutation_p.W148*	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.	148	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TGAGCTGCTCCCAAAAGCCGC	0.552000														32			5		0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827773	1827773	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:1827773G>A	uc002cmu.3	-	5	787	c.696C>T	c.(694-696)acC>acT	p.T232T	SPSB3_uc002cmt.3_Silent_p.T104T|SPSB3_uc010uvm.2_3'UTR	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	232	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TCTTGAAAAAGGTGAGTGTGC	0.627000														29			4		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925773	55925773	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:55925773C>T	uc003pcs.3	-	25	2500	c.2268G>A	c.(2266-2268)gtG>gtA	p.V756V	COL21A1_uc010jzz.3_Silent_p.V141V|COL21A1_uc011dxg.2_Silent_p.V129V|COL21A1_uc011dxh.2_Silent_p.V141V|COL21A1_uc003pcr.3_Silent_p.V113V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	756	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)			TCAAGCCATCCACCCCAGATT	0.507000														25			5		0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117684	117684	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr9:117684G>A	uc003zfz.3	-	0	734	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	146					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGCCAGGCGGGGAACTTGCGG	0.637000														247			13		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107464510	107464510	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:107464510A>G	uc004enw.4	-	3	345	c.242T>C	c.(241-243)tTc>tCc	p.F81S	COL4A6_uc004env.4_Missense_Mutation_p.F80S|COL4A6_uc011msn.2_Missense_Mutation_p.F80S|COL4A6_uc010npk.3_Missense_Mutation_p.F80S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	81	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AAGGCCTGGGAAACCCCTTTC	0.473000									Alport syndrome with Diffuse Leiomyomatosis					41			5		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240046	27240046	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:27240046G>A	uc002hdg.1	-	8	2073	c.1543C>T	c.(1543-1545)Cca>Tca	p.P515S	PHF12_uc010wbb.1_Missense_Mutation_p.P497S|PHF12_uc002hdi.1_Missense_Mutation_p.P511S|PHF12_uc002hdj.1_Missense_Mutation_p.P515S|PHF12_uc010crw.1_Missense_Mutation_p.P218S|PHF12_uc002hdh.1_Missense_Mutation_p.P298S	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	515	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.P515P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCTAGGGCTGGGGACTGGTGG	0.552000														60			4		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173490487	173490487	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:173490487C>T	uc001giz.2	-	21	3115	c.2692G>A	c.(2692-2694)Ggt>Agt	p.G898S	SLC9C2_uc009wwe.2_Missense_Mutation_p.G456S	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	898					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GGCATTTCACCTCCTTTACAA	0.318000														23			3		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57056174	57056174	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:57056174C>T	uc021tiu.1	+	2	429	c.302C>T	c.(301-303)aCc>aTc	p.T101I	NLRC5_uc021tit.1_Missense_Mutation_p.T101I|NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	101					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.F100F(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCAGGGTTCACCAGCCAGCTG	0.612000														16			4		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23326306	23326307	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr10:23326306_23326307GG>AA	uc001irm.4	+	18	2600_2601	c.2517_2518GG>AA	c.(2515-2520)gggggc>ggAAgc	p.G840S	ARMC3_uc010qcv.2_Missense_Mutation_p.G833S|ARMC3_uc010qcw.2_Missense_Mutation_p.G577S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	840							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGTGATTGGGGGCCTCCCCGC	0.500000														54			5		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890501	22890501	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:22890501G>A	uc002zwf.3	-	4	1674	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.F490F|PRAME_uc010gtr.3_Silent_p.F506F|PRAME_uc002zwg.3_Silent_p.F506F|PRAME_uc002zwh.3_Silent_p.F506F|PRAME_uc002zwi.3_Silent_p.F506F|PRAME_uc002zwj.3_Silent_p.F506F|PRAME_uc002zwk.3_Silent_p.F506F	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	506	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGTTAGGCATGAAACAGGGGC	0.532000														133			11		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3115784	3115784	+	Splice_Site	SNP	G	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:3115784G>T	uc002ctq.3	+	2	68	c.-27_splice	c.e2-1		IL32_uc002ctn.3_5'UTR|IL32_uc002ctk.3_Splice_Site|IL32_uc002cto.3_Splice_Site|IL32_uc010uwp.2_Splice_Site|IL32_uc010btb.3_Intron|IL32_uc002ctl.3_Splice_Site|IL32_uc002ctm.3_Splice_Site|IL32_uc002ctp.3_Splice_Site|IL32_uc010uwq.1_Splice_Site|IL32_uc002ctr.3_Splice_Site|IL32_uc002ctt.3_Splice_Site|IL32_uc010uwr.2_5'Flank|IL32_uc002ctu.3_5'Flank|IL32_uc021tbc.1_5'Flank	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.						cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTCGCCAGCAGGCCTTGGCTC	0.577000														151			10		1.76689e-08	1.83485e-08	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129558903	129558903	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:129558903C>T	uc009zyl.1	-	8	3145	c.2817G>A	c.(2815-2817)gtG>gtA	p.V939V	TMEM132D_uc001uia.2_Silent_p.V477V	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	939						integral to membrane		p.V939L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGCAAAGGTCACACAGTTTA	0.463000														59			5		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705338	101705338	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:101705338C>T	uc021oqt.1	+	0	798	c.798C>T	c.(796-798)atC>atT	p.I266I	S1PR1_uc001dud.2_Silent_p.I266I|S1PR1_uc009weg.2_Silent_p.I266I	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	266					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCGTCTTCATCGCCTGCTGGG	0.577000														140			12		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109792668	109792669	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr13:109792668_109792669CC>TT	uc010agk.2	+	31	4730_4731	c.4108_4109CC>TT	c.(4108-4110)cct>TTt	p.P1370F	MYO16_uc001vqt.1_Missense_Mutation_p.P1348F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1348					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAAGATTCCTCCTCGAAAGCCC	0.703000														38			4		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27290975	27290975	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:27290975C>T	uc003xfn.2	+	15	1819	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	PTK2B_uc022ate.1_Silent_p.S337S|PTK2B_uc003xfp.2_Silent_p.S337S|PTK2B_uc003xfq.2_Silent_p.S337S|PTK2B_uc010luq.1_Silent_p.S108S|PTK2B_uc003xfr.1_Silent_p.S83S	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	337	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AAACCTCATCCCTAGCAGAGG	0.587000														63			6		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042803	5042803	+	Silent	SNP	T	C	C			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:5042803T>C	uc002gau.1	+	21	3562	c.1332T>C	c.(1330-1332)ggT>ggC	p.G444G	USP6_uc002gav.1_Silent_p.G444G|USP6_uc010ckz.1_Silent_p.G127G|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	444					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GACCTCAGGGTTCCTGGAGAT	0.612000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									49			7		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237739	29237739	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:29237739C>T	uc001wqe.3	+	0	1453	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	418					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTACTTTTTCCCCCACGTCC	0.692000														28			4		0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30530924	30530924	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:30530924C>T	uc002hgw.3	+	15	1587	c.1348C>T	c.(1348-1350)Cgt>Tgt	p.R450C	RHOT1_uc002hgy.3_Missense_Mutation_p.R450C|RHOT1_uc002hgz.3_Missense_Mutation_p.R450C|RHOT1_uc002hha.3_Missense_Mutation_p.R323C|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Missense_Mutation_p.R323C|RHOT1_uc010wby.2_Missense_Mutation_p.R450C|RHOT1_uc002hhb.3_Missense_Mutation_p.R429C|RHOT1_uc002hgv.3_Missense_Mutation_p.R450C	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	450	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GAAGAAAATTCGTGAAGATCA	0.333000														25			3		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818679	17818679	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:17818679C>T	uc022btm.1	-	0	1452	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	RAI2_uc004cyf.3_Silent_p.G484G|RAI2_uc004cyg.3_Silent_p.G484G|RAI2_uc011miy.2_Silent_p.G434G|RAI2_uc022btl.1_Silent_p.G484G|RAI2_uc004cyh.4_Silent_p.G484G|RAI2_uc010nfa.3_Silent_p.G484G	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	484					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGGACTCTTCCCCTTGGCTGT	0.478000														162			18		0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3494394	3494394	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:3494394C>T	uc010vro.2	-	2	501	c.468G>A	c.(466-468)aaG>aaA	p.K156K	TRPV1_uc010vrp.2_Silent_p.K156K|TRPV1_uc010vrq.2_Silent_p.K154K|TRPV1_uc010vrr.2_Silent_p.K156K|TRPV1_uc010vrs.2_Silent_p.K156K|TRPV1_uc010vrt.2_Silent_p.K156K|TRPV1_uc010vru.2_Silent_p.K156K	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	156					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCAGACAGGTCTTCCCTGTCT	0.632000														19			3		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18895135	18895135	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:18895135C>T	uc002nke.3	-	16	1989	c.1953G>A	c.(1951-1953)cgG>cgA	p.R651R	COMP_uc002nkd.3_Silent_p.R618R|COMP_uc010xqj.2_Silent_p.R598R	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	651	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACAGAGCGTTCCGCAGCTGTT	0.612000														42			5		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591520	46591520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:46591520C>T	uc009zkj.1	-	15	2030	c.1345G>A	c.(1345-1347)Gga>Aga	p.G449R	SLC38A1_uc001rpb.3_Missense_Mutation_p.G449R|SLC38A1_uc001rpc.3_Missense_Mutation_p.G449R|SLC38A1_uc001rpd.3_Missense_Mutation_p.G449R|SLC38A1_uc001rpe.3_Missense_Mutation_p.G449R|SLC38A1_uc001rpa.3_Missense_Mutation_p.G449R	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	449					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTTTGAGTTCCTTTATCTCCA	0.323000														47			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140812062	140812062	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:140812062C>T	uc003lkt.2	+	0	1905	c.1736C>T	c.(1735-1737)cCc>cTc	p.P579L	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_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.P579L	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	580	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)			GAGCTGGCTCCCCGCTCCGCA	0.667000														136			14		0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16720904	16720904	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:16720904G>A	uc004cxk.3	-	1	866	c.122C>T	c.(121-123)cCc>cTc	p.P41L	CTPS2_uc004cxl.3_Missense_Mutation_p.P41L|CTPS2_uc004cxm.3_Missense_Mutation_p.P41L	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	41					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GTTAATATAGGGGTCGATTTT	0.448000														48			6		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022163	14022163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:14022163C>T	uc003wwq.3	-	4	1133	c.473G>A	c.(472-474)aGt>aAt	p.S158N	SGCZ_uc010lss.3_Missense_Mutation_p.S111N	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	145					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCCATCTTCACTGGCTCTCAC	0.423000														33			4		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1828357	1828357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:1828357G>A	uc002lua.4	-	1	526	c.431C>T	c.(430-432)gCc>gTc	p.A144V	REXO1_uc010dsr.1_Missense_Mutation_p.A98V	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	144						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		CAGTGGGAAGGCATCCTCGTC	0.746000														24			3		0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197480894	197480894	+	Silent	SNP	G	A	A	rs34213899		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:197480894G>A	uc021pgu.1	-	21	2117	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.F157L(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTGATCTAAAGAAATCCAAGC	0.373000														44			5		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151785759	151785759	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:151785759A>T	uc001ezh.3	-	7	1238	c.1130T>A	c.(1129-1131)tTt>tAt	p.F377Y	RORC_uc001ezg.3_Missense_Mutation_p.F356Y|RORC_uc010pdo.2_Missense_Mutation_p.F431Y|RORC_uc010pdp.2_Missense_Mutation_p.F377Y	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	377	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTTCAAAAAAGACCGTGCG	0.557000														179			19		0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825608	52825608	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:52825608C>T	uc004drc.1	-	1	139	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	47										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					GTTGAATATTCTGATGTTTTC	0.398000														21			5		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736405	26736405	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:26736405G>A	uc003acb.3	+	9	2215	c.2019G>A	c.(2017-2019)ctG>ctA	p.L673L	SEZ6L_uc003acd.3_Silent_p.L673L|SEZ6L_uc011akd.2_Silent_p.L673L|SEZ6L_uc003ace.3_Silent_p.L673L|SEZ6L_uc011akc.2_Silent_p.L673L|SEZ6L_uc003acc.3_Silent_p.L673L|SEZ6L_uc003acf.1_Silent_p.L446L|SEZ6L_uc010gvc.1_Silent_p.L446L	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	673	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCAAGCCTGAATCTGAGCA	0.468000														114			8		0	0	1	0	0
AV4S1	0	broad.mit.edu	37	14	22670518	22670518	+	Splice_Site	SNP	T	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:22670518T>A	uc021rpv.1	+	1	30	c.-5_splice	c.e1+2		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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Splice_Site					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		TATCTTTGGGTAAGTGTTCTG	0.433000														7			3		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15487610	15487610	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:15487610C>T	uc003nbj.3	+	5	987	c.743C>T	c.(742-744)cCc>cTc	p.P248L	JARID2_uc011diu.1_Missense_Mutation_p.P112L|JARID2_uc011div.2_Missense_Mutation_p.P76L|JARID2_uc011diw.1_Missense_Mutation_p.P210L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	248					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAGGCCACTCCCGCAAAGGAG	0.562000														48			5		0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268203	22268203	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:22268203C>T	uc002dki.3	+	6	1238	c.753C>T	c.(751-753)atC>atT	p.I251I	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	251	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ATGACAACATCCGCCTGACGC	0.607000														53			4		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378023	19378023	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:19378023C>T	uc010tkp.2	+	0	430	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P144P(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCTGCCGTCCCTTGCTCTA	0.443000														99			6		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153732	4153732	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:4153732C>T	uc003smx.3	+	24	3788	c.3649C>T	c.(3649-3651)Cgc>Tgc	p.R1217C	SDK1_uc010kso.3_Missense_Mutation_p.R493C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1217	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.R1217C(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAAGTACTGGCGCTCAGACCT	0.577000														52			4		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25168015	25168015	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:25168015C>T	uc003xeg.3	+	12	1422	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R143W|DOCK5_uc003xei.3_5'UTR	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	429						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R429L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGCAATAGCCCGGAAGATGGG	0.468000														26			3		0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42427920	42427920	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:42427920C>T	uc002igp.1	+	5	792	c.573C>T	c.(571-573)ctC>ctT	p.L191L	GRN_uc002igq.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	191					signal transduction	extracellular space	cytokine activity|growth factor activity			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)		CAAAGAAGCTCCCTGCCCAGA	0.627000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			6		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139263247	139263247	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:139263247C>A	uc003yuy.3	-	5	550	c.379G>T	c.(379-381)Gtg>Ttg	p.V127L	FAM135B_uc003yux.3_Missense_Mutation_p.V28L|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	127								p.D126N(1)		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)			GCCCCAGCCACATCCCTCAAC	0.582000										HNSCC(54;0.14)				87			8		0.000442599	0.000448132	1	1	0
GDF3	9573	broad.mit.edu	37	12	7843022	7843022	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:7843022G>A	uc001qte.3	-	1	583	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	183					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACATCCAGCAGGTTGAAGTGA	0.498000														42			4		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226929	43226929	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:43226929C>T	uc003ouq.1	+	10	1449	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	390						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.V389A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACCTTGTCCCCCACCCCGGGG	0.627000														60			5		0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66041910	66041910	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:66041910C>T	uc002jgk.3	+	9	1502	c.1370C>T	c.(1369-1371)aCt>aTt	p.T457I	KPNA2_uc002jgl.3_Missense_Mutation_p.T457I	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	457					DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTAGGTGAAACTGAGAAACTT	0.313000														39			4		0	0	1	0	0
NF1P2	440225	broad.mit.edu	37	15	21134234	21134234	+	RNA	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr15:21134234C>T	uc001ytv.1	-	1		c.272G>A								Homo sapiens neurofibromin 1 pseudogene 2 (NF1P2), non-coding RNA.																		CCAGAGCCATCGCTATAGGGA	0.473000														8			3		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	199656	199656	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrGL000192.1:199656C>T	uc010yii.1	-	6	985	c.764G>A	c.(763-765)gGg>gAg	p.G255E	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	1953										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)				GACAGAGATCCCTCGGCTCAG	0.498000														22			3		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915151	31915151	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:31915151C>T	uc003nyj.4	+	3	789	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	CFB_uc011dor.2_Missense_Mutation_p.P673S|CFB_uc003nyi.2_Missense_Mutation_p.P171S	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	171	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCCGGGCATCCCCATTGGCAC	0.617000														113			9		0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103553284	103553284	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:103553284G>A	uc003hwg.3	-	16	2670	c.2570C>T	c.(2569-2571)cCt>cTt	p.P857L	MANBA_uc011ces.2_Missense_Mutation_p.P800L	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	857					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GGGCTCCCAAGGGTAAAATAA	0.423000														48			7		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755186	72755186	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr9:72755186G>A	uc004ahm.2	+	7	1737	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	374	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCGGGCTGGAGACCACACTAC	0.453000														73			13		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4286286	4286286	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr9:4286286G>A	uc003zhx.1	-	1	853	c.140C>T	c.(139-141)tCg>tTg	p.S47L	GLIS3_uc003zic.1_Missense_Mutation_p.S47L|GLIS3_uc003zie.1_Missense_Mutation_p.S47L|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Missense_Mutation_p.S47L	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	637	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGTGGGACTCGATGTGCTGCC	0.607000														32			4		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126237670	126237670	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:126237670C>T	uc003ifj.4	+	0	104	c.104C>T	c.(103-105)cCg>cTg	p.P35L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	35					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						TCATTGCTTCCGGGGCAGGCC	0.627000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			6		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36041766	36041766	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:36041766C>T	uc001wtj.3	-	37	6241	c.5850_splice	c.e37+1	p.E1950_splice	RALGAPA1_uc010amp.3_Splice_Site|RALGAPA1_uc001wti.3_Splice_Site_p.E1950_splice|RALGAPA1_uc010tpv.2_Splice_Site_p.E1963_splice|RALGAPA1_uc010tpw.1_Splice_Site_p.E1997_splice	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1950	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGTTCTTACCTCTGGTTTTT	0.333000														35			5		0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15230079	15230079	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:15230079G>A	uc002nam.3	-	8	1070	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	317						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ATCCCTCCAAGGAAGCAGGGA	0.667000														37			6		0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274355	51274355	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:51274355G>A	uc010ycf.2	+	0	498	c.498G>A	c.(496-498)tgG>tgA	p.W166*		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	166						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTGGGGTGTGGCTCCTGGCCG	0.592000														52			4		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171013	117171013	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:117171013G>A	uc003vjd.3	+	3	466	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	112	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.D112A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTATGACCCGGATAACAAGGA	0.428000									Cystic Fibrosis					15			3		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57078992	57078992	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:57078992C>T	uc003xsq.4	-	2	1764	c.1313G>A	c.(1312-1314)gGg>gAg	p.G438E	PLAG1_uc003xsr.4_Missense_Mutation_p.G438E|PLAG1_uc010lyi.3_Missense_Mutation_p.G438E|PLAG1_uc010lyj.3_Missense_Mutation_p.G356E|PLAG1_uc022aur.1_Missense_Mutation_p.G356E	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	438	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCCAAGGCTCCCCACTGATAG	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									65			5		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111490767	111490767	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:111490767C>T	uc001eaa.3	-	3	2380	c.2124G>A	c.(2122-2124)ttG>ttA	p.L708L	LRIF1_uc001dzz.3_Silent_p.L172L|LRIF1_uc001eab.3_Silent_p.L172L	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATTTGAATTCAAAGTGCCTT	0.378000														87			8		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36221458	36221458	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:36221458C>T	uc021usv.1	+	24	5217	c.5217C>T	c.(5215-5217)tcC>tcT	p.S1739S	MLL2_uc021usu.1_Silent_p.S553S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5187					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			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						GCATTGACTCCCTGGGTACTC	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				248			17		0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46527683	46527683	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:46527683C>T	uc010olw.2	-	5	837	c.820G>A	c.(820-822)Gag>Aag	p.E274K	PIK3R3_uc001cpb.4_Missense_Mutation_p.E228K|PIK3R3_uc009vyb.3_Missense_Mutation_p.E228K|PIK3R3_uc009vyc.3_Missense_Mutation_p.E245K|PIK3R3_uc001cpc.4_Missense_Mutation_p.E228K|PIK3R3_uc010olv.2_Missense_Mutation_p.E18K	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	228					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding	p.S273T(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGACACTGCTCTTCAAATATT	0.358000														67			8		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155258175	155258175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:155258175C>T	uc001fjz.1	+	7	2254	c.2246C>T	c.(2245-2247)cCa>cTa	p.P749L	HCN3_uc010pfz.1_Missense_Mutation_p.P444L	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	749	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCAAACCTCCAAGGACAGCC	0.632000														55			7		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681340	100681340	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:100681340C>T	uc003uxp.1	+	2	6696	c.6643C>T	c.(6643-6645)Cct>Tct	p.P2215S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2215	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)					AACCTCAACTCCTAGTGAAGG	0.498000														293			30		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8996035	8996035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:8996035G>A	uc002czl.2	-	17	2150	c.1951C>T	c.(1951-1953)Ctc>Ttc	p.L651F	USP7_uc010uyk.1_Missense_Mutation_p.L552F|USP7_uc010uyj.1_Missense_Mutation_p.L552F|USP7_uc002czk.2_Missense_Mutation_p.L635F|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	651	Interaction with ICP0/VMW110.				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						TTATCACTGAGCTCAATCATC	0.413000														73			6		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172007473	172007473	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:172007473C>T	uc001gie.3	+	6	1040	c.864C>T	c.(862-864)caC>caT	p.H288H	DNM3_uc001gid.4_Silent_p.H288H|DNM3_uc009wwb.2_Silent_p.H288H|DNM3_uc001gif.3_Silent_p.H288H	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	288					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTACCAACCACATTCGGGATA	0.378000														38			3		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102662226	102662226	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:102662226C>T	uc001phi.2	-	8	1177	c.1034_splice	c.e8-1	p.G345_splice	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Splice_Site_p.G279_splice	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	345	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTACTTATTCCCTGCCAATCA	0.433000														92			5		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59946488	59946488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:59946488G>A	uc002izn.3	-	22	3251	c.3175C>T	c.(3175-3177)Cag>Tag	p.Q1059*	INTS2_uc002izm.3_Nonsense_Mutation_p.Q1051*	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	1059					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAAAGCAACTGGATAGCAAAT	0.313000														24			3		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892297	130892297	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:130892297C>G	uc001uil.2	-	15	3115	c.2899G>C	c.(2899-2901)Gaa>Caa	p.E967Q		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	967	SH3 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCGAGCTTTCTCTGGGGTCG	0.557000														233			15		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100692185	100692185	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:100692185T>G	uc003uxp.1	+	4	12648	c.12595T>G	c.(12595-12597)Ttc>Gtc	p.F4199V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4199	SEA.					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)					CAGTGTGAAGTTCACCGAAGA	0.502000														31			6		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699178	17699178	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:17699178C>T	uc002rcl.1	-	0	529	c.505G>A	c.(505-507)Gga>Aga	p.G169R	RAD51AP2_uc010exn.1_Missense_Mutation_p.G160R	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	169										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTCTAATTCCATGTATATCG	0.408000														39			5		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44070959	44070959	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:44070959G>A	uc001cjr.3	+	17	3574	c.3234G>A	c.(3232-3234)atG>atA	p.M1078I	PTPRF_uc001cjs.3_Missense_Mutation_p.M1069I|PTPRF_uc001cju.3_Missense_Mutation_p.M456I|PTPRF_uc009vwt.3_Missense_Mutation_p.M638I|PTPRF_uc001cjv.3_Missense_Mutation_p.M538I|PTPRF_uc001cjw.3_Missense_Mutation_p.M304I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1078	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGTGCTGATGAACCGTGGCA	0.617000														63			7		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304821	67304821	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:67304821G>A	uc002esm.3	+	15	2462	c.2399G>A	c.(2398-2400)aGc>aAc	p.S800N	SLC9A5_uc010cee.3_Missense_Mutation_p.S505N|SLC9A5_uc010vji.2_Missense_Mutation_p.S304N	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	800					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCCCTGGAGAGCCTAGCGTCC	0.617000														65			4		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52709810	52709810	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:52709810C>T	uc001saf.2	-	6	1192	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	377	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity	p.E377K(2)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGCGCCCTCCAGCTCGGCC	0.632000														65			7		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999570	108999570	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:108999570C>T	uc002tea.1	+	3	788	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Intron	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	139					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGCAAGAAATCCCAAGGACAA	0.398000														45			5		0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524522	35524522	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:35524522C>T	uc002nxo.2	+	2	460	c.327C>T	c.(325-327)acC>acT	p.T109T	SCN1B_uc002nxp.3_Silent_p.T109T|SCN1B_uc010xsg.2_Intron	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	109	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCTTCATCACCAATGTCACCT	0.572000														131			9		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661064	8661064	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:8661064C>T	uc002mkj.1	-	10	1504	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ADAMTS10_uc002mkk.1_Silent_p.G42G	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	410	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C409F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GACCACGGGCCCCACAGCTGT	0.627000														75			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107113854	107113854	+	RNA	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:107113854C>T	uc021ser.1	-	96		c.4375G>A								Parts of antibodies, mostly variable regions.																		ACAGAGTCTGCATAATATGTG	0.493000														194			13		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419603	10419603	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:10419603C>T	uc002gmo.3	-	3	355	c.261G>A	c.(259-261)aaG>aaA	p.K87K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	87	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.K87T(1)|p.D86Y(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTCCTCGATCTTGTCATATT	0.473000														109			6		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139653219	139653219	+	Missense_Mutation	SNP	G	C	C	rs150139510		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:139653219G>C	uc011kqv.2	+	6	879	c.644G>C	c.(643-645)cGc>cCc	p.R215P	TBXAS1_uc003vvh.3_Missense_Mutation_p.R169P|TBXAS1_uc010lne.3_Missense_Mutation_p.R101P|TBXAS1_uc011kqu.2_Missense_Mutation_p.R120P|TBXAS1_uc003vvi.3_Missense_Mutation_p.R169P|TBXAS1_uc011kqw.2_Missense_Mutation_p.R149P|TBXAS1_uc003vvj.3_Missense_Mutation_p.R169P	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	168					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CATTTAAAACGCTATGCGGAA	0.468000														53			4		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61295562	61295562	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:61295562C>T	uc001nrv.3	-	4	499	c.447G>A	c.(445-447)gaG>gaA	p.E149E	SYT7_uc009ynr.3_Silent_p.E224E	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	149	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGAGCGTGGACTCCTGGAAGT	0.632000														63			4		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766471	57766471	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr20:57766471G>A	uc002yan.3	+	0	397	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	133						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCACGCTGGGCAGCCCAGG	0.682000														73			6		0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223988514	223988514	+	Splice_Site	SNP	T	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:223988514T>A	uc001hod.3	-	11	1650	c.839_splice	c.e11-1	p.G280_splice	TP53BP2_uc010pvb.2_Splice_Site_p.G409_splice|TP53BP2_uc010puz.2_Splice_Site|TP53BP2_uc010pva.2_Splice_Site_p.G48_splice	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	403					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTTTAGAGCCTAAAATACAGA	0.373000														24			3		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18745763	18745764	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr11:18745763_18745764CC>TT	uc009yht.2	-	1	210_211	c.20_21GG>AA	c.(19-21)cgg>cAA	p.R7Q	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	7			R -> W (found in a renal cell carcinoma sample; somatic mutation).					p.R7W(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCAGCATCTGCCGGCTGTGAAT	0.584000														62			6		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47388699	47388699	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:47388699G>A	uc002iov.4	-	4	1748	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ZNF652_uc002iow.3_Silent_p.F428F|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGTGTTCGTCGAAGTACTGCT	0.423000														73			4		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72046280	72046280	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr9:72046280C>T	uc004ahh.2	-	12	2753	c.2477G>A	c.(2476-2478)aGg>aAg	p.R826K		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	826					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGTCAGCAGCCTGTACATCGC	0.592000														109			7		0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	101993104	101993104	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr10:101993104G>A	uc001kqq.1	-	13	1584	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	CWF19L1_uc001kqs.1_Silent_p.I251I|CWF19L1_uc001kqr.1_Silent_p.I459I|CWF19L1_uc001kqt.1_Silent_p.I203I|CWF19L1_uc010qpn.1_Silent_p.I362I	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	Homo sapiens CWF19-like 1, cell cycle control (S. pombe) (CWF19L1), mRNA.	499							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GAACATTAAGGATGGCTTCAC	0.507000														66			5		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101712206	101712206	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr13:101712206C>T	uc001vox.1	-	41	5058	c.4869G>A	c.(4867-4869)acG>acA	p.T1623T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1623						integral to membrane	sodium channel activity|voltage-gated ion channel activity			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)					TGTTGGCATTCGTGTCCTCAC	0.542000														50			6		0	0	1	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														33			5		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr15:66729162C>T	uc010bhq.3	+	2	845	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	124	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(12)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000														38			5		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57579531	57579531	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr12:57579531C>T	uc001snd.3	+	40	7147	c.6681C>T	c.(6679-6681)ttC>ttT	p.F2227F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2227					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCAGCCCTTCGAGGACCCTG	0.607000														35			5		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28586912	28586912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr18:28586912G>A	uc002kwj.4	-	11	2004	c.1849C>T	c.(1849-1851)Cca>Tca	p.P617S	DSC3_uc002kwi.4_Missense_Mutation_p.P617S	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	617	Cadherin 5.				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)			CTGATTTCTGGAGAAGTATTG	0.353000														27			4		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554952	106554952	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr6:106554952C>T	uc003prd.2	+	6	2303	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	PRDM1_uc003pre.3_Missense_Mutation_p.S556F	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	690					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CACAAGTGCTCCCAGTGCCAC	0.587000			"""D, N, Mis, F, S"""		DLBCL									170			12		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169500056	169500056	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:169500056G>A	uc001ggg.1	-	14	5321	c.5176C>T	c.(5176-5178)Cgg>Tgg	p.R1726W		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1726	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCCCAAGCCCGACAGGCAGAG	0.473000														47			7		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835297	38835297	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr3:38835297C>T	uc003ciq.3	-	0	205	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	69					sensory perception	voltage-gated sodium channel complex		p.G68V(1)		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)	GCTGGGAGCTCACCATAGAAC	0.552000														88			7		0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111435132	111435132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:111435132G>A	uc001dzw.3	+	3	400	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	CD53_uc001dzx.3_Missense_Mutation_p.E77K|CD53_uc010owa.2_Missense_Mutation_p.E77K	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	77					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CTCTATCAAGGAAAACAAGTG	0.517000														76			7		0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6649172	6649172	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:6649172C>T	uc009vmc.2	+	10	2090	c.1967C>T	c.(1966-1968)cCc>cTc	p.P656L	ZBTB48_uc001anx.3_Missense_Mutation_p.P656L|ZBTB48_uc009vmd.2_Missense_Mutation_p.P656L|ZBTB48_uc001any.2_Missense_Mutation_p.P294L	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	656						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCAGCTCCCCGGCCAGAGA	0.672000														59			4		0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	120942120	120942120	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:120942120A>T	uc003yow.4	+	2	554	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	DEPTOR_uc011lid.2_Intron	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	123					intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GGATGACGGCACCTTCCCATT	0.413000														64			4		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69965788	69965788	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:69965788C>T	uc002exu.1	+	16	1766	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	WWP2_uc002exv.1_Silent_p.I559I|WWP2_uc010vlm.1_Silent_p.I443I|WWP2_uc010vln.1_Silent_p.I177I|WWP2_uc002exw.1_Silent_p.I120I|MIR140_uc002exx.1_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	559	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGGGGCATCGCCAGGTGAG	0.607000														76			6		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151820052	151820052	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:151820052T>A	uc004ffp.1	+	7	985	c.965T>A	c.(964-966)aTt>aAt	p.I322N		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	322						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCCAACATTTCCTGTATC	0.438000														41			10		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891617	30891617	+	Silent	SNP	G	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr22:30891617G>T	uc003aid.2	-	3	287	c.187C>A	c.(187-189)Cgg>Agg	p.R63R	SEC14L4_uc011akz.1_Silent_p.R63R|SEC14L4_uc003aie.2_Silent_p.R48R|SEC14L4_uc003aif.2_Silent_p.R9R	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	63						integral to membrane|intracellular	lipid binding|transporter activity	p.F62L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TGTTGCTTCCGGAACTCCATG	0.592000														89			5		0.014758	0.0148497	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102105228	102105228	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr13:102105228C>T	uc001vpb.3	+	0	263	c.44C>T	c.(43-45)tCc>tTc	p.S15F	ITGBL1_uc010agb.3_Missense_Mutation_p.S15F|ITGBL1_uc001vpc.4_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	15					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.S14P(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGGCGTCCTCCCTTCTCTTT	0.557000														70			7		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176903418	176903418	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:176903418C>T	uc001glc.3	-	15	2753	c.2541G>A	c.(2539-2541)gcG>gcA	p.A847A	ASTN1_uc001glb.1_Silent_p.A847A|ASTN1_uc001gld.1_Silent_p.A847A	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	855					cell migration|neuron cell-cell adhesion	integral to membrane		p.A847A(2)|p.A847E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTCCAACAGCGCCACAAAAT	0.542000														31			3		0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85661061	85661061	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr15:85661061G>A	uc002blh.3	+	16	1914	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	PDE8A_uc021stv.1_Silent_p.E503E|PDE8A_uc002bli.3_Silent_p.E529E|PDE8A_uc010bnc.3_Silent_p.E328E|PDE8A_uc010bnd.3_Silent_p.E328E|PDE8A_uc002blj.3_Silent_p.E195E|PDE8A_uc002blk.3_Silent_p.E195E|PDE8A_uc002bll.3_5'Flank	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	575	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TCTCCAAGGAGAGGATAAAGG	0.448000														91			8		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983587	128983588	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:128983587_128983588GG>AA	uc003kvb.1	+	12	1985	c.1985_splice	c.e12+1	p.G662_splice	ADAMTS19_uc010jdh.1_Splice_Site	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	662	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAAATGTCCTGGGTAAACTCAA	0.500000														80			5		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866044	208866044	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:208866044G>A	uc002vcl.2	-	1	810	c.320C>T	c.(319-321)tCc>tTc	p.S107F	PLEKHM3_uc002vcm.2_Missense_Mutation_p.S107F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	107					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATCCAGGAAAGATTATC	0.458000														66			6		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64468788	64468788	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:64468788C>T	uc001xgl.3	+	28	4005	c.3775C>T	c.(3775-3777)Caa>Taa	p.Q1259*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.Q1259*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.Q1259*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1259					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCGCATCTATCAACACCTAAG	0.378000														54			4		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64644282	64644282	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr3:64644282A>T	uc003dmg.3	-	3	897	c.865T>A	c.(865-867)Tta>Ata	p.L289I	ADAMTS9_uc011bfo.2_Missense_Mutation_p.L289I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.L118I|ADAMTS9_uc003dmk.1_Missense_Mutation_p.L289I	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	289					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGATAGGATAAAAAACGTTTT	0.398000														115			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182267	140182267	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr5:140182267G>A	uc003lhf.2	+	0	1485	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.V495V	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	509	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)			ACTCGCTGGTGGAACGGCGGG	0.677000														88			10		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68047686	68047686	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:68047686C>T	uc001xjl.1	+	22	3357	c.3215C>T	c.(3214-3216)gCc>gTc	p.A1072V	PLEKHH1_uc010tsw.1_Missense_Mutation_p.A640V|PLEKHH1_uc001xjn.1_Missense_Mutation_p.A587V|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	1072	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGGGAACAAGCCATGAAGGAG	0.512000														42			5		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52825873	52825873	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr3:52825873G>A	uc003dfs.3	+	21	2712	c.2682G>A	c.(2680-2682)ggG>ggA	p.G894G	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.G752G|ITIH1_uc021wzg.1_Silent_p.G606G|ITIH1_uc021wzh.1_Silent_p.G606G|ITIH1_uc003dft.3_Missense_Mutation_p.G486S|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	894	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACAACAATGGGGCTGGACTCA	0.592000														27			3		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179533843	179533843	+	Silent	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:179533843G>A	uc001gmq.4	-	1	445	c.360C>T	c.(358-360)tcC>tcT	p.S120S	NPHS2_uc009wxi.3_Silent_p.S120S	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	120					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGAACCAGATGGAAAAAGGGA	0.458000														23			3		0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144698813	144698813	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr8:144698813G>A	uc003yza.2	-	1	106	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	TSTA3_uc003yzb.2_Nonsense_Mutation_p.Q24*|TSTA3_uc011lko.1_Nonsense_Mutation_p.Q24*	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	24					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	ACCACCTTCTGGATGGCTTTG	0.557000														103			12		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974745	16974745	+	RNA	SNP	G	A	A	rs28526603	by1000genomes	TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:16974745G>A	uc010och.2	+	6		c.1205G>A			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTGGAACCGGAGGGCCGGGG	0.711000														24			4		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47942867	47942867	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:47942867G>A	uc003gxu.3	-	8	925	c.784C>T	c.(784-786)Caa>Taa	p.Q262*	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Nonsense_Mutation_p.Q193*	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	193					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TAATCAGATTGAAGTTCATCA	0.289000														33			4		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206327536	206327536	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:206327536C>T	uc001hdu.3	+	5	843	c.725C>T	c.(724-726)tCt>tTt	p.S242F	CTSE_uc001hdv.3_Missense_Mutation_p.S242F|CTSE_uc010prs.2_Missense_Mutation_p.S167F	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	247					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCCCATTTCTCTGGGAGCCTG	0.512000														102			9		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989632	15989632	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:15989632C>T	uc002nbs.1	-	12	1562	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	CYP4F2_uc010xot.1_Silent_p.L355L	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	504					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGCGCAGGACCAGCTCCGGCT	0.647000														35			4		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23646880	23646880	+	Silent	SNP	T	C	C			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:23646880T>C	uc002dlx.1	-	3	1187	c.987A>G	c.(985-987)ctA>ctG	p.L329L		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	329					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGAGTTCATTTAGAGAACATG	0.338000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						58			4		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724777	158724777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:158724777C>T	uc001fsw.1	+	0	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATTCTTTATTCCCTTGCTTCT	0.463000														75			5		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59024580	59024580	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr17:59024580G>A	uc002iyv.4	+	14	1197	c.1088_splice	c.e14-1	p.G363_splice	BCAS3_uc010wow.1_Splice_Site_p.G150_splice|BCAS3_uc002iyu.4_Splice_Site_p.G363_splice|BCAS3_uc002iyw.4_Splice_Site_p.G359_splice|BCAS3_uc002iyx.1_Splice_Site_p.G178_splice|BCAS3_uc002iyy.4_Splice_Site_p.G134_splice	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	363						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTCTTCCAGGAATGCTTCTA	0.358000														70			6		0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135638623	135638623	+	Silent	SNP	A	G	G			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:135638623A>G	uc004ezy.3	+	4	872	c.702A>G	c.(700-702)ttA>ttG	p.L234L		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					TTTCAGAGTTAGAGACACCTG	0.483000														30			3		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169500058	169500058	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr1:169500058C>A	uc001ggg.1	-	14	5319	c.5174G>T	c.(5173-5175)tGt>tTt	p.C1725F		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1725	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCAAGCCCGACAGGCAGAGCC	0.473000														51			8		0.27861	0.27861	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					29			3		0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2438259	2438259	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:2438259T>C	uc002lvy.3	-	3	613	c.526A>G	c.(526-528)Aag>Gag	p.K176E		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	176	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		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)		TCCAGCTGCTTTTTGGCCACT	0.607000														46			4		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142250914	142250914	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:142250914C>T	uc011ksf.2	-	1	148	c.133G>A	c.(133-135)Gat>Aat	p.D45N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGTCTCATATCCTGGGTACAT	0.498000														26			6		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442567	138442567	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr4:138442567C>T	uc003ihe.4	-	3	3411	c.3024G>A	c.(3022-3024)atG>atA	p.M1008I	PCDH18_uc003ihf.4_Missense_Mutation_p.M1000I|PCDH18_uc011cgz.2_Missense_Mutation_p.M219I|PCDH18_uc003ihg.4_Missense_Mutation_p.M787I|PCDH18_uc011cha.2_Missense_Mutation_p.M188I	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1008	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACACACTGCTCATTTCCGAGA	0.527000														47			6		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11114060	11114060	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:11114060G>A	uc021tcy.1	+	11	1544	c.1314G>A	c.(1312-1314)atG>atA	p.M438I	CLEC16A_uc002dan.4_Missense_Mutation_p.M420I|CLEC16A_uc002dao.3_Missense_Mutation_p.M436I	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	438								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGATCGAGATGGTGATCATGG	0.532000														42			5		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499716	66499716	+	Missense_Mutation	SNP	A	G	G	rs141617852	by1000genomes	TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr9:66499716A>G	uc004aee.1	+	0	526	c.526A>G	c.(526-528)Aat>Gat	p.N176D	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CCTGGAGCCCAATCTGCTGGA	0.607000														42			4		0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596953	142596953	+	Silent	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:142596953C>T	uc004fbw.3	-	1	205	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	39										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCAAACTCTGTTCGGGGG	0.373000														33			3		0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474515	99474515	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr7:99474515G>A	uc003usc.1	-	0	142	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ATGCAGATGAGGAGAATGGTG	0.498000														22			4		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704665	47704665	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr21:47704665G>A	uc002zir.1	-	0	572	c.536C>T	c.(535-537)tCc>tTc	p.S179F	YBEY_uc002zit.1_5'Flank|YBEY_uc002ziu.1_5'Flank|YBEY_uc010gqh.3_5'Flank|YBEY_uc002ziv.3_5'Flank|YBEY_uc002ziw.3_5'Flank|YBEY_uc002zix.3_5'Flank|YBEY_uc002ziy.3_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	179					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.S179F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATTGGGTGGGAAAATGTAAA	0.428000														30			4		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868138	57868138	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr19:57868138C>T	uc010etw.3	+	3	1430	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	ZNF304_uc010ygw.2_Missense_Mutation_p.H301Y|ZNF304_uc010etx.3_Missense_Mutation_p.H259Y	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CCAGAAATTTCACACTGGAAA	0.428000														39			3		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217142440	217142440	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr2:217142440G>T	uc002vgb.3	-	2	2587	c.820C>A	c.(820-822)Cag>Aag	p.Q274K		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	274						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TAGCAGATCTGGAAGAGAAGG	0.567000														93			8		1.06961e-07	1.10368e-07	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31475729	31475730	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:31475729_31475730CC>TT	uc010vfn.2	+	5	1794_1795	c.1670_1671CC>TT	c.(1669-1671)tcc>tTT	p.S557F	ARMC5_uc010vfo.2_Missense_Mutation_p.S494F|ARMC5_uc002ecc.3_Missense_Mutation_p.S462F|ARMC5_uc002eca.4_Missense_Mutation_p.S462F|ARMC5_uc002ecb.2_Missense_Mutation_p.S462F|ARMC5_uc010vfp.2_Missense_Mutation_p.S270F	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	462							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGCTGATCTCCGAGGGCTATG	0.634000														22			3		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1818353	1818353	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr16:1818353C>T	uc010uvl.2	+	29	3836	c.3716C>T	c.(3715-3717)gCc>gTc	p.A1239V	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.A1238V|MAPK8IP3_uc002cml.3_Missense_Mutation_p.A1228V|MAPK8IP3_uc021tah.1_Missense_Mutation_p.A1232V	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	1238					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CACCGCGATGCCGTGAAGTTC	0.657000														47			6		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64468786	64468786	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chr14:64468786A>T	uc001xgl.3	+	28	4003	c.3773A>T	c.(3772-3774)tAt>tTt	p.Y1258F	SYNE2_uc001xgm.3_Missense_Mutation_p.Y1258F|SYNE2_uc021ruh.1_Missense_Mutation_p.Y1258F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1258					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATCGCATCTATCAACACCTA	0.378000														54			4		0	0	1	0	0
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-D3-A51F-06A-11D-A25O-08	TCGA-D3-A51F-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3F1CC29B-D0F4-4F4C-998D-246E2D588A1B	7AB2A9EE-B955-485B-9372-4FDB42A4B738	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	5	---	---	4	---