Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RAB26	25837	broad.mit.edu	37	16	2201695	2201695	+	Splice_Site	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:2201695G>T	ENST00000210187.6	+	4	508		c.e4-1		RAB26_ENST00000541451.1_Splice_Site	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family						exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						TGTCGCTGCAGATGTGGGACA	0.622000													16	31					7.05477e-17	9.10387e-17	0.004990	1	0
ENTPD6	955	broad.mit.edu	37	20	25197285	25197285	+	Splice_Site	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:25197285C>A	ENST00000360031.2	+	8	890	c.706_splice	c.e8-1	p.G236_splice	ENTPD6_ENST00000376652.4_Splice_Site_p.G237_splice|ENTPD6_ENST00000354989.5_Splice_Site_p.G220_splice|ENTPD6_ENST00000433259.2_Splice_Site_p.G237_splice	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	237						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTGCTCCAGGCAGCTTGAAAA	0.572000													9	17					4.68919e-08	5.67447e-08	0.008291	1	0
STAB2	55576	broad.mit.edu	37	12	104118864	104118864	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:104118864A>T	ENST00000388887.2	+	45	4999	c.4795A>T	c.(4795-4797)Att>Ttt	p.I1599F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1599	FAS1 5.			IY -> HE (in Ref. 7; AAF82398).	angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCGCGGCAGCATTTATCAGGT	0.438000													67	16					0	0	0.014410	0	0
PPEF2	5470	broad.mit.edu	37	4	76813090	76813090	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:76813090A>C	ENST00000286719.7	-	3	453	c.97T>G	c.(97-99)Tac>Gac	p.Y33D	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	33	IQ.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGGGCCACGTAGCGCCGGTAC	0.577000													28	72					0	0	0.004656	0	0
IL2RA	3559	broad.mit.edu	37	10	6061875	6061875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:6061875C>T	ENST00000379959.3	-	5	786	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	IL2RA_ENST00000256876.6_Missense_Mutation_p.G196S|IL2RA_ENST00000379954.1_Missense_Mutation_p.G133S	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	205					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAGGACGGCCTTCGGGGCTT	0.597000													30	59					0	0	0.008361	0	0
VASP	7408	broad.mit.edu	37	19	46027399	46027399	+	Splice_Site	SNP	A	A	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:46027399A>T	ENST00000245932.6	+	10	1311	c.956_splice	c.e10+1	p.R319_splice		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	319	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		AACCTTGCCAAGGTAGGCCAT	0.577000											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	29					0	0	0.008361	0	0
PTPRM	5797	broad.mit.edu	37	18	8296397	8296397	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr18:8296397A>C	ENST00000332175.8	+	18	3784	c.2747A>C	c.(2746-2748)gAc>gCc	p.D916A	PTPRM_ENST00000580170.1_Missense_Mutation_p.D929A|PTPRM_ENST00000444013.1_Missense_Mutation_p.D703A|PTPRM_ENST00000400053.4_Missense_Mutation_p.D854A|PTPRM_ENST00000400060.4_Missense_Mutation_p.D930A	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	916	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCACCATGGGACTCGGCTAAG	0.423000													3	38					0	0	0.004672	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274113	39274113	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:39274113G>A	ENST00000391413.2	-	1	493	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	152	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcagcagctggattcacagca	0.657000													9	27					0	0	0.006214	0	0
USP8	9101	broad.mit.edu	37	15	50769168	50769168	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr15:50769168G>A	ENST00000433963.1	+	10	1472	c.972G>A	c.(970-972)caG>caA	p.Q324Q	USP8_ENST00000396444.3_Silent_p.Q324Q|USP8_ENST00000307179.4_Silent_p.Q324Q|USP8_ENST00000425032.3_Silent_p.Q247Q	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	324					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CACGACGCCAGAATGAAGAGG	0.393000													26	14					0	0	0.006320	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83820108	83820108	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr15:83820108G>A	ENST00000299633.4	-	5	1068	c.465C>T	c.(463-465)tcC>tcT	p.S155S		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		155					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACTGTTTAGAGGATTTCTAAA	0.393000													17	31					0	0	0.004990	0	0
CACNA1H	8912	broad.mit.edu	37	16	1245997	1245997	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:1245997C>T	ENST00000348261.5	+	5	865	c.617C>T	c.(616-618)cCc>cTc	p.P206L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P206L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P206L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	206					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTGCTGCGGCCCCTCCGCGCC	0.657000													41	56					0	0	0.011902	0	0
NAV2	89797	broad.mit.edu	37	11	19970445	19970445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:19970445G>A	ENST00000396085.1	+	10	2825	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M	NAV2_ENST00000527559.2_Missense_Mutation_p.V774M|NAV2_ENST00000360655.4_Missense_Mutation_p.V758M|NAV2_ENST00000396087.3_Missense_Mutation_p.V845M|NAV2_ENST00000540292.1_Missense_Mutation_p.V776M|NAV2_ENST00000349880.4_Missense_Mutation_p.V822M	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	845						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGTCGCTATGTGTACTCCGC	0.612000													40	14					0	0	0.014410	0	0
ALS2	57679	broad.mit.edu	37	2	202625540	202625540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:202625540C>T	ENST00000467448.1	-	4	1316	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ALS2_ENST00000264276.6_Intron	NM_001135745.1	NP_001129217.1	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	0					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTTAAAGTTTCTAAAGAAAAG	0.348000													3	10					0	0	0.004672	0	0
NPFFR1	64106	broad.mit.edu	37	10	72020461	72020461	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:72020461G>A	ENST00000277942.5	-	3	364	c.357C>T	c.(355-357)agC>agT	p.S119S		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	119						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						GCACCAAGCCGCTCATCTTGC	0.567000													7	17					0	0	0.001984	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917406	89917406	+	Silent	SNP	A	A	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:89917406A>T	ENST00000548729.1	-	3	1214	c.912T>A	c.(910-912)ccT>ccA	p.P304P	POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Silent_p.P307P|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000413530.1_Silent_p.P135P	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					CAGCCATGGTAGGTGATCTGA	0.473000													7	79					0	0	0.004482	0	0
SUPT6H	6830	broad.mit.edu	37	17	27009843	27009843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:27009843C>T	ENST00000314616.6	+	14	1979	c.1696C>T	c.(1696-1698)Ccc>Tcc	p.P566S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P566S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	566					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCCGCGGAGCCCTTGGAGCT	0.602000													33	46					0	0	0.012213	0	0
CCDC132	55610	broad.mit.edu	37	7	92869194	92869194	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:92869194C>G	ENST00000305866.5	+	2	177	c.49C>G	c.(49-51)Caa>Gaa	p.Q17E	CCDC132_ENST00000535481.1_Missense_Mutation_p.Q17E|CCDC132_ENST00000251739.5_Missense_Mutation_p.Q17E|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000544910.1_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	17										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAAAGCCCTCAAGAAAGCCT	0.378000													62	113					0	0	0.014410	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79770505	79770505	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:79770505G>A	ENST00000338008.5	+	17	4497	c.4317G>A	c.(4315-4317)caG>caA	p.Q1439Q	ZFYVE16_ENST00000510158.1_Silent_p.Q1439Q|ZFYVE16_ENST00000505560.1_Silent_p.Q1439Q	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1439					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAAAGGACCAGGATTTATCTA	0.333000													29	17					0	0	0.009535	0	0
ZNF737	100129842	broad.mit.edu	37	19	20736633	20736633	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:20736633C>T	ENST00000427401.4	-	2	106	c.12G>A	c.(10-12)ttG>ttA	p.L4L	ZNF737_ENST00000596797.1_Silent_p.L4L|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	4					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTCTAAATTGCAATGGCCCCT	0.403000													36	44					0	0	0.008740	0	0
NOS2	4843	broad.mit.edu	37	17	26125804	26125804	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:26125804G>C	ENST00000313735.6	-	2	265	c.32C>G	c.(31-33)aCc>aGc	p.T11S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	11					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GTGGAATTTGGTCTTGAACAG	0.458000													33	33					0	0	0.012213	0	0
GRSF1	2926	broad.mit.edu	37	4	71702029	71702029	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:71702029C>T	ENST00000254799.6	-	2	477	c.360G>A	c.(358-360)gaG>gaA	p.E120E	GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000545193.1_Silent_p.E2E	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	120					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TAGTTTTGGACTCCTTCCAAA	0.368000													29	53					0	0	0.004289	0	0
PTPN14	5784	broad.mit.edu	37	1	214542900	214542900	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:214542900C>T	ENST00000366956.5	-	17	3365	c.3171G>A	c.(3169-3171)aaG>aaA	p.K1057K	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1057	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGTGCTTGACCTTCAAGCCCG	0.478000													94	204					0	0	0.014410	0	0
TRIM40	135644	broad.mit.edu	37	6	30105123	30105123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:30105123G>A	ENST00000396581.1	+	2	696	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	TRIM40_ENST00000376724.2_Missense_Mutation_p.E104K|TRIM40_ENST00000307859.4_Missense_Mutation_p.E104K			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	104						intracellular	zinc ion binding			ovary(1)	1						GTCTCATCATGAACTGACCAT	0.552000													61	76					0	0	0.014410	0	0
RNF213	57674	broad.mit.edu	37	17	78322014	78322014	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:78322014C>A	ENST00000582970.1	+	29	10022	c.9879C>A	c.(9877-9879)caC>caA	p.H3293Q	RNF213_ENST00000508628.2_Missense_Mutation_p.H3342Q|RNF213_ENST00000336301.6_Missense_Mutation_p.H1366Q	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACAGAGGCACAACTCCTTTG	0.597000													3	44					6.4e-05	7.62605e-05	0.004672	1	0
LMNA	4000	broad.mit.edu	37	1	156106747	156106747	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:156106747G>A	ENST00000368300.4	+	8	1628	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000448611.2_Silent_p.Q360Q|LMNA_ENST00000473598.2_Silent_p.Q373Q|LMNA_ENST00000392353.3_Silent_p.Q391Q|LMNA_ENST00000368297.1_Silent_p.Q391Q|LMNA_ENST00000368299.3_Silent_p.Q472Q|LMNA_ENST00000361308.4_Silent_p.Q472Q|LMNA_ENST00000347559.2_Silent_p.Q472Q|LMNA_ENST00000368301.2_Silent_p.Q472Q	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	472	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TCAAGCGCCAGAATGGAGATG	0.592000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				23	19					0	0	0.002780	0	0
RMDN1	51115	broad.mit.edu	37	8	87519250	87519250	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:87519250G>A	ENST00000406452.3	-	2	380	c.221C>T	c.(220-222)gCt>gTt	p.A74V	CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Missense_Mutation_p.A30V|RMDN1_ENST00000518772.1_5'UTR|RMDN1_ENST00000430676.2_Missense_Mutation_p.A74V|RMDN1_ENST00000519966.1_Missense_Mutation_p.A74V	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		AACCACAGCAGCCTGAGAGAT	0.368000													93	150					0	0	0.014410	0	0
BRINP1	1620	broad.mit.edu	37	9	121929820	121929820	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:121929820T>G	ENST00000265922.3	-	8	2289	c.1828A>C	c.(1828-1830)Aca>Cca	p.T610P	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		610					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TCGAAAAATGTTTTCCACCGA	0.557000													116	29					0	0	0.014410	0	0
LEFTY2	7044	broad.mit.edu	37	1	226125198	226125198	+	Silent	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:226125198C>A	ENST00000366820.5	-	4	1392	c.1044G>T	c.(1042-1044)gtG>gtT	p.V348V	LEFTY2_ENST00000420304.2_Silent_p.V314V|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	348					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGCACTTCTGCACCCTCATGT	0.617000													35	59					3.11337e-16	3.98461e-16	0.013726	1	0
PRKCG	5582	broad.mit.edu	37	19	54401792	54401792	+	Silent	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:54401792G>C	ENST00000263431.3	+	11	1473	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	PRKCG_ENST00000540413.1_Silent_p.L397L|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000542049.1_Silent_p.L284L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	397	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACTGCACGCTGGTGGAGAAAC	0.637000													13	19					0	0	0.013537	0	0
RECQL5	9400	broad.mit.edu	37	17	73624385	73624385	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:73624385G>A	ENST00000317905.5	-	18	2877	c.2718C>T	c.(2716-2718)tcC>tcT	p.S906S	RECQL5_ENST00000423245.2_Silent_p.S879S|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	906					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.S879S(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGCCAGGAGCGGAGAGCTGGA	0.597000								Other identified genes with known or suspected DNA repair function					8	49					0	0	0.003080	0	0
TAF6	6878	broad.mit.edu	37	7	99711345	99711345	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:99711345G>A	ENST00000344095.4	-	4	816	c.291C>T	c.(289-291)gcC>gcT	p.A97A	TAF6_ENST00000437822.2_Silent_p.A134A|TAF6_ENST00000418432.2_Silent_p.A40A|TAF6_ENST00000472509.1_Silent_p.A154A|TAF6_ENST00000452041.1_Silent_p.A97A|TAF6_ENST00000453269.2_Silent_p.A97A	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	97					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCACCAGAGGCGAAGCGGA	0.607000													5	29					0	0	0.001984	0	0
ATP8A1	10396	broad.mit.edu	37	4	42618055	42618055	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:42618055G>A	ENST00000381668.5	-	5	635	c.404C>T	c.(403-405)aCg>aTg	p.T135M	ATP8A1_ENST00000264449.10_Missense_Mutation_p.T135M	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	135					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.T135M(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCTACCTTGCGTTTGTTTCTT	0.284000													23	10					0	0	0.002780	0	0
CIITA	4261	broad.mit.edu	37	16	11004076	11004076	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:11004076G>T	ENST00000324288.8	+	13	2981	c.2848G>T	c.(2848-2850)Gag>Tag	p.E950*	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Nonsense_Mutation_p.E366*	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	950			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CACAGCTGGGGAGCTCCCTGC	0.557000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								11	22					0.00010058	0.000118937	0.013537	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	79					0	0	0.004007	0	0
FAM8A1	51439	broad.mit.edu	37	6	17600920	17600920	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:17600920G>A	ENST00000259963.3	+	1	335	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	94						integral to membrane		p.E94K(1)|p.E94Q(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GGCGGGCTGCGAGGCGCCCGA	0.731000													18	11					0	0	0.006122	0	0
ZNF845	91664	broad.mit.edu	37	19	53854940	53854940	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:53854940C>G	ENST00000458035.1	+	4	1129	c.1012C>G	c.(1012-1014)Caa>Gaa	p.Q338E	ZNF845_ENST00000595091.1_Missense_Mutation_p.Q338E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GACCTTCAGTCAAACGTCATA	0.388000													29	50					0	0	0.008361	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899008	112899008	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:112899008G>A	ENST00000374530.3	+	8	1364	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	AKAP2_ENST00000555236.1_Missense_Mutation_p.R395Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R395Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R395Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.R253Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.R253Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.R164Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		164							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TGTTCTTCCCGAGATGGAGAG	0.572000													47	9					0	0	0.011902	0	0
SLC35F1	222553	broad.mit.edu	37	6	118556746	118556746	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:118556746G>T	ENST00000360388.4	+	3	625	c.424G>T	c.(424-426)Gca>Tca	p.A142S		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	142					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGACCTGGAAGCAAATTATCT	0.423000													23	37					1.28384e-07	1.54757e-07	0.012319	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38651237	38651237	+	RNA	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:38651237C>G	ENST00000494540.1	+	0	384					NR_003086.1																						AACTAAATATCAAAGCACTTC	0.373000													26	54					0	0	0.006320	0	0
CDK8	1024	broad.mit.edu	37	13	26975692	26975692	+	Silent	SNP	G	G	A	rs138501276		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:26975692G>A	ENST00000381527.3	+	12	1703	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGGGACCCCCGTTGAAGAAAG	0.473000													7	47					0	0	0.004482	0	0
DCAF16	54876	broad.mit.edu	37	4	17805431	17805431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:17805431C>T	ENST00000382247.1	-	3	1394	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	DCAF16_ENST00000536863.1_Missense_Mutation_p.E112K	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	112						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GGGGGCCATTCAGGAATTGGT	0.493000													64	55					0	0	0.014410	0	0
ZFP69B	65243	broad.mit.edu	37	1	40929123	40929123	+	Silent	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:40929123C>G	ENST00000411995.2	+	6	1842	c.1467C>G	c.(1465-1467)tcC>tcG	p.S489S	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Silent_p.S387S	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		ATGATTCATCCTTTGCTAAAC	0.388000													4	47					0	0	0.009096	0	0
F10	2159	broad.mit.edu	37	13	113777199	113777199	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:113777199C>T	ENST00000375559.3	+	1	68	c.30C>T	c.(28-30)ctC>ctT	p.L10L	F10_ENST00000409306.1_Silent_p.L10L|F10_ENST00000483537.1_3'UTR|F10_ENST00000375551.3_Silent_p.L10L	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	10					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGTCCTGCTCAGTGCCTCCC	0.672000													12	25					0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82584860	82584860	+	Silent	SNP	A	A	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:82584860A>G	ENST00000423517.2	-	5	5746	c.5409T>C	c.(5407-5409)tcT>tcC	p.S1803S	PCLO_ENST00000333891.8_Silent_p.S1803S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1734					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTTTTACTAGAACTCTTTC	0.378000													60	81					0	0	0.014410	0	0
FBXO30	84085	broad.mit.edu	37	6	146126431	146126431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:146126431C>T	ENST00000237281.4	-	2	1277	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	371							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TCCCCTAAGTCTACTTTTTTC	0.388000													53	76					0	0	0.014410	0	0
MTHFD1	4522	broad.mit.edu	37	14	64891551	64891551	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:64891551G>T	ENST00000555709.1	+	9	1144	c.757G>T	c.(757-759)Gtg>Ttg	p.V253L	MTHFD1_ENST00000545908.1_Missense_Mutation_p.V309L|MTHFD1_ENST00000216605.7_Missense_Mutation_p.V309L|MTHFD1_ENST00000555252.1_Missense_Mutation_p.V233L|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	253	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GAGAAAAGTTGTGGGTGATGT	0.488000													4	38					1.23904e-05	1.48208e-05	0.000602	1	0
VEGFC	7424	broad.mit.edu	37	4	177605120	177605120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:177605120C>T	ENST00000280193.2	-	7	1635	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	407					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AGGGACACAACGACACACTTC	0.418000													28	59					0	0	0.004656	0	0
PHF20	51230	broad.mit.edu	37	20	34505531	34505531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:34505531G>A	ENST00000374012.3	+	13	2080	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTATGACTTCGAGGTGGTCCG	0.502000													21	52					0	0	0.014323	0	0
CLVS1	157807	broad.mit.edu	37	8	62212732	62212732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:62212732C>T	ENST00000519846.1	+	3	818	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	CLVS1_ENST00000325897.4_Missense_Mutation_p.P116S|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	116					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGCAGATGATCCCGGCATTAA	0.507000													21	60					0	0	0.008871	0	0
ZNF831	128611	broad.mit.edu	37	20	57769026	57769026	+	Silent	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:57769026G>T	ENST00000371030.2	+	1	2952	c.2952G>T	c.(2950-2952)ctG>ctT	p.L984L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	984						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)					GGTCAGGACTGGGGACCCCTC	0.632000													34	15					3.11337e-16	3.98461e-16	0.013726	1	0
CKM	1158	broad.mit.edu	37	19	45810135	45810135	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:45810135T>C	ENST00000221476.3	-	8	1193	c.1019A>G	c.(1018-1020)gAt>gGt	p.D340G		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	340	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCCCAGCCGATCAGCGTTGGA	0.582000													57	116					0	0	0.014410	0	0
ABCG8	64241	broad.mit.edu	37	2	44099198	44099198	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:44099198C>T	ENST00000272286.2	+	7	1138	c.1048C>T	c.(1048-1050)Cta>Tta	p.L350L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	350					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCCCTGTTTCTAGAAAAAGT	0.537000													48	72					0	0	0.014410	0	0
RFC2	5982	broad.mit.edu	37	7	73649972	73649972	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:73649972G>A	ENST00000055077.3	-	10	904	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	RFC2_ENST00000352131.3_Missense_Mutation_p.L248F	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	282					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						AAGTGAGCAAGAATCTAGACA	0.448000													37	64					0	0	0.003755	0	0
C20orf27	54976	broad.mit.edu	37	20	3739186	3739186	+	Silent	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:3739186G>C	ENST00000379772.3	-	3	969	c.159C>G	c.(157-159)gtC>gtG	p.V53V	C20orf27_ENST00000217195.8_Silent_p.V78V	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	53										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						CATGTACCTTGACCAGAAAGC	0.587000													7	142					0	0	0.001984	0	0
EXOC4	60412	broad.mit.edu	37	7	133689722	133689722	+	Silent	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:133689722G>T	ENST00000253861.4	+	16	2435	c.2406G>T	c.(2404-2406)gtG>gtT	p.V802V	EXOC4_ENST00000539845.1_Silent_p.V701V|EXOC4_ENST00000545148.1_Silent_p.V412V|EXOC4_ENST00000541309.1_Silent_p.V90V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	802					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATGCCATTGTGGCTAATGTGG	0.463000													7	99					2.0095e-06	2.41295e-06	0.001984	1	0
DHX16	8449	broad.mit.edu	37	6	30624230	30624230	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:30624230G>T	ENST00000376442.3	-	15	2563	c.2368C>A	c.(2368-2370)Ctg>Atg	p.L790M	DHX16_ENST00000376437.5_Missense_Mutation_p.L309M	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	790					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AAAGCCAGCAGCAGTGTCTCA	0.547000													11	51					0.000673444	0.000784424	0.008291	1	0
ABCF3	55324	broad.mit.edu	37	3	183907447	183907447	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:183907447C>T	ENST00000429586.2	+	13	1401	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	ABCF3_ENST00000292808.5_Missense_Mutation_p.R400W|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	406	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATGGTTACCGGGGAGACTT	0.572000													20	41					0	0	0.010504	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	85					0	0	0.000602	0	0
KDM4C	23081	broad.mit.edu	37	9	6805612	6805612	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:6805612A>T	ENST00000536108.1	+	0	261				KDM4C_ENST00000381309.3_Missense_Mutation_p.K53M|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000401787.3_Missense_Mutation_p.K53M|KDM4C_ENST00000381306.3_Missense_Mutation_p.K53M|KDM4C_ENST00000535193.1_Missense_Mutation_p.K75M|KDM4C_ENST00000543771.1_Missense_Mutation_p.K53M|KDM4C_ENST00000489243.1_3'UTR			Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATTCCTCCTAAGGAGTGGAAG	0.358000													19	4					0	0	0.008871	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763371	140763371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:140763371C>A	ENST00000518325.1	+	1	905	c.905C>A	c.(904-906)tCa>tAa	p.S302*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATATCAACTTTAGAA	0.403000													19	36					7.07596e-05	8.39933e-05	0.006122	1	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								55	17					0	0	0.014410	0	0
TCF20	6942	broad.mit.edu	37	22	42606032	42606032	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr22:42606032G>A	ENST00000359486.3	-	1	5416	c.5280C>T	c.(5278-5280)tcC>tcT	p.S1760S	TCF20_ENST00000404876.1_Silent_p.S61S|TCF20_ENST00000335626.4_Silent_p.S1760S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGTCCGTCTTGGAGCCATTAG	0.557000													42	88					0	0	0.007835	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368445	18368445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:18368445C>T	ENST00000392413.3	-	4	3864	c.3649G>A	c.(3649-3651)Gac>Aac	p.D1217N	KIAA1683_ENST00000600359.2_Missense_Mutation_p.D984N|KIAA1683_ENST00000600328.2_Missense_Mutation_p.D1030N	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCGATGGTCAGATACTGTC	0.657000													25	44					0	0	0.004656	0	0
CCDC88C	440193	broad.mit.edu	37	14	91787565	91787565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:91787565G>A	ENST00000389857.6	-	13	1512	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	476					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ATGGTGCTCTGGAGGCTCTGA	0.587000													8	14					0	0	0.003080	0	0
RAB17	64284	broad.mit.edu	37	2	238483689	238483689	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:238483689C>T	ENST00000264601.3	-	6	1241	c.612G>A	c.(610-612)gcG>gcA	p.A204A	RAB17_ENST00000409822.1_Silent_p.A77A|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Silent_p.A77A	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	204					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TGGCCTGCCTCGCGGGCCCCT	0.642000													30	39					0	0	0.013726	0	0
RAG2	5897	broad.mit.edu	37	11	36614509	36614509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:36614509C>T	ENST00000311485.3	-	2	1371	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	404					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TCATCATCTTCATTATAGGTG	0.403000									Familial Hemophagocytic Lymphohistiocytosis				38	24					0	0	0.006230	0	0
KLHL23	151230	broad.mit.edu	37	2	170591601	170591601	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:170591601T>C	ENST00000392647.2	+	2	321	c.77T>C	c.(76-78)tTc>tCc	p.F26S	KLHL23_ENST00000272797.4_Missense_Mutation_p.F26S|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	26										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTGGATGCATTCAGAACATTT	0.363000													5	118					0	0	0.000602	0	0
OR7C2	26658	broad.mit.edu	37	19	15052714	15052714	+	Silent	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:15052714C>A	ENST00000248072.3	+	1	414	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCATGAACCCCCGGCTCTGTG	0.537000													64	115					2.89935e-36	3.86995e-36	0.014410	1	0
RFWD3	55159	broad.mit.edu	37	16	74695292	74695292	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:74695292T>A	ENST00000361070.4	-	2	153	c.56A>T	c.(55-57)cAa>cTa	p.Q19L	RFWD3_ENST00000571750.1_Missense_Mutation_p.Q19L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	19					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AGCTGGCTGTTGTTCGGCATG	0.483000													112	170					0	0	0.014410	0	0
PRR3	80742	broad.mit.edu	37	6	30530165	30530165	+	Splice_Site	SNP	G	G	T	rs79542230		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:30530165G>T	ENST00000376560.3	+	4	919		c.e4-1		PRR3_ENST00000498336.1_Splice_Site|PRR3_ENST00000376557.3_Splice_Site	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3								nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						CTTGTTCACAGACAAATCCGA	0.453000													77	199					7.63117e-38	1.02297e-37	0.014410	1	0
PCDHB11	56125	broad.mit.edu	37	5	140580820	140580820	+	Silent	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:140580820C>A	ENST00000354757.3	+	1	1473	c.1473C>A	c.(1471-1473)ctC>ctA	p.L491L	PCDHB11_ENST00000536699.1_Silent_p.L126L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		491	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCTACTCCCGCCCCAGG	0.642000													85	117					1.32003e-40	1.78492e-40	0.014410	1	0
CLPTM1	1209	broad.mit.edu	37	19	45496120	45496120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:45496120C>T	ENST00000541297.2	+	14	2398	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	CLPTM1_ENST00000337392.5_Missense_Mutation_p.P659S|CLPTM1_ENST00000546079.1_Missense_Mutation_p.P557S			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	659					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCAGGAAGCCCCTCCAAAGCC	0.682000													20	33					0	0	0.008871	0	0
HELB	92797	broad.mit.edu	37	12	66725387	66725387	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:66725387G>C	ENST00000247815.4	+	12	3183	c.3124G>C	c.(3124-3126)Ggt>Cgt	p.G1042R		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1042					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGAACCTGTGGTGTGAATGA	0.388000													5	160					0	0	0.003080	0	0
PIK3CB	5291	broad.mit.edu	37	3	138400825	138400825	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:138400825C>T	ENST00000477593.1	-	18	2561	c.2488G>A	c.(2488-2490)Gct>Act	p.A830T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.A830T|PIK3CB_ENST00000544716.1_Missense_Mutation_p.A281T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	830	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCCAAACCAGCTTCTTTCCAG	0.363000													17	37					0	0	0.007413	0	0
E2F5	1875	broad.mit.edu	37	8	86121536	86121536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:86121536C>G	ENST00000418930.2	+	6	971	c.775C>G	c.(775-777)Cca>Gca	p.P259A	E2F5_ENST00000521429.1_Missense_Mutation_p.P86A|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.P260A|E2F5_ENST00000517476.1_Missense_Mutation_p.P98A|E2F5_ENST00000416274.2_Missense_Mutation_p.P259A			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	259					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTCCTTGACTCCAGTGACTCC	0.488000													5	94					0	0	0.001168	0	0
SLC37A1	54020	broad.mit.edu	37	21	43962541	43962541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr21:43962541G>A	ENST00000352133.2	+	7	1496	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	SLC37A1_ENST00000398341.3_Missense_Mutation_p.G172S			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	172					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GCAGACCACCGGCTGGCCCAG	0.577000													18	28					0	0	0.010504	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722876	94722876	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:94722876G>T	ENST00000304338.3	+	17	2099	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	649						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCAGCAGTTAGAAATGTGTGT	0.348000													5	26					0.000602214	0.000704093	0.000602	1	0
RSPH10B	222967	broad.mit.edu	37	7	5968017	5968017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:5968017C>T	ENST00000405415.1	-	19	2628	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	RSPH10B_ENST00000441023.2_Missense_Mutation_p.E748K|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E748K|RSPH10B_ENST00000404406.1_Missense_Mutation_p.E748K|RSPH10B_ENST00000535104.1_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	748										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TTGGGTCTCTCATATTTCTCT	0.443000													67	172					0	0	0.014410	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884134	24884134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:24884134C>T	ENST00000382554.3	+	9	3497	c.3179C>T	c.(3178-3180)gCa>gTa	p.A1060V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1060					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGCCAGGGGCAGCTTCTCCC	0.647000													9	121					0	0	0.006214	0	0
ADCK3	56997	broad.mit.edu	37	1	227170663	227170663	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:227170663C>T	ENST00000366779.1	+	13	3779	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	ADCK3_ENST00000366775.1_Silent_p.F181F|ADCK3_ENST00000366777.3_Silent_p.F336F|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366776.1_Silent_p.F261F|ADCK3_ENST00000458507.2_Silent_p.F57F|ADCK3_ENST00000366778.1_Silent_p.F284F			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	336	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AGCGGCCCTTCGCCGCCGCAT	0.642000													3	5					0	0	0.000602	0	0
PSKH2	85481	broad.mit.edu	37	8	87076791	87076791	+	Silent	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:87076791G>T	ENST00000276616.2	-	2	329	c.255C>A	c.(253-255)acC>acA	p.T85T	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	85	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AAGGTTTCTTGGTGGTCTTCT	0.483000													28	109					8.58068e-18	1.11657e-17	0.007291	1	0
AHNAK2	113146	broad.mit.edu	37	14	105421961	105421961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:105421961C>T	ENST00000333244.5	-	5	444	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	109						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGTTGCCTCCTGGACAGCC	0.602000													30	48					0	0	0.010818	0	0
HECTD4	283450	broad.mit.edu	37	12	112665943	112665943	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:112665943C>T	ENST00000550722.1	-	43	6761	c.6366G>A	c.(6364-6366)ggG>ggA	p.G2122G	HECTD4_ENST00000377560.5_Silent_p.G2096G|HECTD4_ENST00000430131.2_Silent_p.G1846G	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CAGGAGCTGACCCATCTCCTG	0.517000													43	22					0	0	0.009718	0	0
CARD11	84433	broad.mit.edu	37	7	2962348	2962348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:2962348G>A	ENST00000396946.4	-	17	2592	c.2189C>T	c.(2188-2190)aCa>aTa	p.T730I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	730	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTTGGTGCATGTGTCCAACGG	0.622000			Mis		DLBCL								7	48					0	0	0.001984	0	0
SLC23A1	9963	broad.mit.edu	37	5	138707837	138707837	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:138707837A>G	ENST00000353963.3	-	14	1705	c.1667T>C	c.(1666-1668)aTa>aCa	p.I556T	SLC23A1_ENST00000348729.3_Missense_Mutation_p.I552T	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	552					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TCTTTTTACTATGCCCATCCC	0.443000													43	47					0	0	0.011902	0	0
TP53	7157	broad.mit.edu	37	17	7576928	7576928	+	Splice_Site	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:7576928T>C	ENST00000420246.2	-	9	1052		c.e9-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGGCAGTGCTAGGAAAGAGG	0.493000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			46	45					0	0	0.009718	0	0
CYLC2	1539	broad.mit.edu	37	9	105767308	105767308	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:105767308C>G	ENST00000374798.3	+	5	465	c.395C>G	c.(394-396)tCa>tGa	p.S132*	CYLC2_ENST00000487798.1_Nonsense_Mutation_p.S132*	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	132	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATTCGGAATCAGAATTAaaa	0.318000													6	27					0	0	0.001168	0	0
OR10H5	284433	broad.mit.edu	37	19	15905429	15905429	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:15905429G>A	ENST00000308940.8	+	1	669	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GGCCTGTGGAGATGATGTGCT	0.572000													6	86					0	0	0.001168	0	0
RIN2	54453	broad.mit.edu	37	20	19937366	19937366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:19937366G>A	ENST00000255006.6	+	4	562	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	RIN2_ENST00000440354.2_Missense_Mutation_p.R89Q|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	89	SH2.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATCTTGGACCGGCTCCTCCAC	0.607000													4	29					0	0	0.000602	0	0
PANK3	79646	broad.mit.edu	37	5	167991072	167991072	+	Splice_Site	SNP	T	T	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:167991072T>G	ENST00000239231.6	-	4	952		c.e4-2		PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3						coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CCTCCAAGGCTAAAGAAAATA	0.363000													44	219					0	0	0.009718	0	0
RADIL	55698	broad.mit.edu	37	7	4917456	4917456	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:4917456C>T	ENST00000399583.3	-	2	502	c.315G>A	c.(313-315)agG>agA	p.R105R	RADIL_ENST00000536091.1_Silent_p.R105R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	105	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCCGGCCTGCCTGGGGTCCA	0.682000													38	74					0	0	0.005524	0	0
ACSL5	51703	broad.mit.edu	37	10	114171725	114171725	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:114171725G>C	ENST00000393081.1	+	11	1243	c.936G>C	c.(934-936)gaG>gaC	p.E312D	ACSL5_ENST00000356116.1_Missense_Mutation_p.E368D|ACSL5_ENST00000354655.4_Missense_Mutation_p.E312D|ACSL5_ENST00000369410.3_Missense_Mutation_p.E94D|ACSL5_ENST00000433418.1_Missense_Mutation_p.E312D|ACSL5_ENST00000354273.4_Missense_Mutation_p.E312D	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	312					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATATGTTTGAGAGGATTGTAC	0.478000													7	139					0	0	0.001984	0	0
FAM92A1	137392	broad.mit.edu	37	8	94713483	94713483	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:94713483G>T	ENST00000518322.1	+	2	199	c.58G>T	c.(58-60)Gtc>Ttc	p.V20F	FAM92A1_ENST00000522324.1_Missense_Mutation_p.V20F|FAM92A1_ENST00000423990.2_Missense_Mutation_p.V20F	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	20										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCAAACAGCTGTCTCAAATGT	0.453000													10	41					2.80697e-09	3.42341e-09	0.010729	1	0
ZNF846	162993	broad.mit.edu	37	19	9868519	9868519	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:9868519G>T	ENST00000397902.2	-	6	1647	c.1234C>A	c.(1234-1236)Cat>Aat	p.H412N	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ATCCTTACATGTTGACTAAGC	0.403000													28	52					4.22769e-11	5.2383e-11	0.006320	1	0
FLG	2312	broad.mit.edu	37	1	152276850	152276850	+	Silent	SNP	C	C	T	rs139345866		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:152276850C>T	ENST00000368799.1	-	3	10547	c.10512G>A	c.(10510-10512)tcG>tcA	p.S3504S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3504	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGATGCGACCATGAGT	0.577000									Ichthyosis				138	227					0	0	0.014410	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315302	22315302	+	RNA	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:22315302C>T	ENST00000390434.3	+	0	465																											AAGGCATCAACGGTTTTGAGG	0.498000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	104					0	0	0.014410	0	0
GDF3	9573	broad.mit.edu	37	12	7842556	7842556	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:7842556G>A	ENST00000329913.3	-	2	1060	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	338					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						GTAGAGCATGGAAATGGGAGA	0.478000													30	59					0	0	0.006320	0	0
MYH11	4629	broad.mit.edu	37	16	15797863	15797863	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:15797863G>A	ENST00000396324.3	-	42	6012	c.5925C>T	c.(5923-5925)acC>acT	p.T1975T	NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000573908.1_5'UTR|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.1_3'UTR|MYH11_ENST00000452625.2_3'UTR|MYH11_ENST00000300036.5_Silent_p.T1968T|MYH11_ENST00000338282.6_3'UTR	NM_001040114.1	NP_001035203.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1968					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CACTGGCCTTGGTTCCATTGA	0.428000			T	CBFB	AML								111	153					0	0	0.014410	0	0
FAM111B	374393	broad.mit.edu	37	11	58892341	58892341	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:58892341T>A	ENST00000343597.3	+	4	962	c.771T>A	c.(769-771)gaT>gaA	p.D257E	FAM111B_ENST00000529618.1_Missense_Mutation_p.D227E|FAM111B_ENST00000411426.1_Missense_Mutation_p.D227E	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	257							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CCATGGTGGATGAAGTATCTG	0.343000													4	31					0	0	0.009096	0	0
IRF3	3661	broad.mit.edu	37	19	50162899	50162899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:50162899G>A	ENST00000600911.1	-	6	1566	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	IRF3_ENST00000593922.1_3'UTR|IRF3_ENST00000599223.1_3'UTR|IRF3_ENST00000596822.1_Missense_Mutation_p.R119C|IRF3_ENST00000599144.1_3'UTR|IRF3_ENST00000309877.7_3'UTR|IRF3_ENST00000377139.3_3'UTR|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000596765.1_3'UTR|IRF3_ENST00000598808.1_3'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.R436C|IRF3_ENST00000597198.1_3'UTR|IRF3_ENST00000600022.1_3'UTR			Q14653	IRF3_HUMAN	interferon regulatory factor 3	0					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CATGAGGAGCGAGGGCTCAGC	0.602000													6	16					0	0	0.001168	0	0
EIF3E	3646	broad.mit.edu	37	8	109252300	109252300	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:109252300C>G	ENST00000220849.5	-	3	272	c.210G>C	c.(208-210)ttG>ttC	p.L70F	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	70	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTTTCTCTCTCAAAGCTAATT	0.358000													30	126					0	0	0.012213	0	0
MYC	4609	broad.mit.edu	37	8	128753051	128753051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:128753051G>C	ENST00000377970.2	+	3	1722	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	MYC_ENST00000524013.1_Missense_Mutation_p.K403N	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	389	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ACAATGAAAAGGCCCCCAAGG	0.502000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""								64	305					0	0	0.014410	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626706	108626706	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:108626706G>A	ENST00000264047.2	+	9	1408	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.V378I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V273I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	378					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.V378I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAAGAAATCGTTTGGGTTAT	0.443000													42	60					0	0	0.009718	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801843	185801843	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:185801843G>T	ENST00000302277.6	+	4	2314	c.1720G>T	c.(1720-1722)Gat>Tat	p.D574Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	574						intracellular	zinc ion binding	p.D574Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGACACTCTAGATGAAAAATA	0.299000													20	42					3.62473e-10	4.47338e-10	0.012319	1	0
BTN3A3	10384	broad.mit.edu	37	6	26452390	26452390	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:26452390G>T	ENST00000244519.2	+	11	1749	c.1506G>T	c.(1504-1506)ttG>ttT	p.L502F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.L453F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.L460F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	502	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TCAGAATTTTGACCTTGGAGC	0.488000													43	123					7.53189e-24	9.9255e-24	0.007835	1	0
PREX2	80243	broad.mit.edu	37	8	68934274	68934274	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:68934274G>A	ENST00000288368.4	+	4	617	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	114	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCACAGAAAGACAAGTTTCG	0.299000													19	29					0	0	0.008871	0	0
HTR5A	3361	broad.mit.edu	37	7	154862903	154862903	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:154862903G>A	ENST00000287907.2	+	1	870	c.294G>A	c.(292-294)ctG>ctA	p.L98L	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.T37T|AC093726.4_ENST00000395731.2_Silent_p.T37T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	98						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGCTGAGCCTGGTGCACGAGC	0.672000													8	31					0	0	0.006214	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327892	88327892	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:88327892C>T	ENST00000325089.6	+	2	468	c.249C>T	c.(247-249)atC>atT	p.I83I	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	83						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTTTCCCAATCTACCACCTCT	0.453000													84	138					0	0	0.014410	0	0
PDLIM5	10611	broad.mit.edu	37	4	95376534	95376534	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:95376534G>A	ENST00000512274.1	+	2	213	c.95G>A	c.(94-96)aGt>aAt	p.S32N	PDLIM5_ENST00000359265.4_Splice_Site_p.S32_splice|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000508216.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000504489.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000450793.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000318007.5_Splice_Site_p.S32_splice|PDLIM5_ENST00000317968.4_Splice_Site_p.S32_splice|PDLIM5_ENST00000437932.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000514743.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000380180.3_Splice_Site_p.S32_splice|PDLIM5_ENST00000538141.1_Splice_Site_p.S32_splice			Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	32	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACAATCTCTAGTGTAAGTAAA	0.428000													15	11					0	0	0.004007	0	0
KLHL28	54813	broad.mit.edu	37	14	45414307	45414307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:45414307C>T	ENST00000396128.4	-	2	944	c.825G>A	c.(823-825)atG>atA	p.M275I	KLHL28_ENST00000355081.2_Missense_Mutation_p.M289I	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	275										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAGGTCGTGTCATCAAGACTG	0.418000													50	65					0	0	0.014410	0	0
SNX27	81609	broad.mit.edu	37	1	151640992	151640992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:151640992C>T	ENST00000368843.3	+	7	1150	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	SNX27_ENST00000458013.2_Nonsense_Mutation_p.Q344*|SNX27_ENST00000368838.1_Nonsense_Mutation_p.Q251*|SNX27_ENST00000482791.1_3'UTR	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	344	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCTACATTCAGAATTATAC	0.383000													30	92					0	0	0.006320	0	0
FARP2	9855	broad.mit.edu	37	2	242380775	242380775	+	Silent	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:242380775C>G	ENST00000264042.3	+	13	1385	c.1215C>G	c.(1213-1215)gcC>gcG	p.A405A	FARP2_ENST00000545004.1_Silent_p.A405A|FARP2_ENST00000373287.4_Silent_p.A405A	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	405					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGCGAATGCCTTTTACTCGC	0.502000													27	56					0	0	0.007291	0	0
EDEM1	9695	broad.mit.edu	37	3	5246816	5246816	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:5246816G>A	ENST00000256497.4	+	6	1240	c.1107G>A	c.(1105-1107)ctG>ctA	p.L369L	EDEM1_ENST00000445686.1_Silent_p.L174L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	369					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GTGCCGGGCTGGACTCCTTCT	0.453000													62	29					0	0	0.014410	0	0
TPR	7175	broad.mit.edu	37	1	186321170	186321170	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:186321170C>G	ENST00000367478.3	-	19	2703	c.2407G>C	c.(2407-2409)Gag>Cag	p.E803Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	803					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AACAAAGACTCTCTTTGCTGA	0.318000			T	NTRK1	papillary thyroid								19	100					0	0	0.012319	0	0
KIF3A	11127	broad.mit.edu	37	5	132052070	132052070	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:132052070T>C	ENST00000378746.4	-	7	1039	c.821A>G	c.(820-822)aAt>aGt	p.N274S	KIF3A_ENST00000378735.1_Missense_Mutation_p.N274S|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.N274S	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	274	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGTGAAAGATTGATTTTTGT	0.398000													3	80					0	0	0.004672	0	0
OC90	729330	broad.mit.edu	37	8	133036916	133036916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:133036916G>A	ENST00000262283.5	-	18	1981	c.1882C>T	c.(1882-1884)Ctc>Ttc	p.L628F	OC90_ENST00000603859.1_Missense_Mutation_p.L416F|OC90_ENST00000254627.3_Missense_Mutation_p.L416F|OC90_ENST00000443356.2_Missense_Mutation_p.L432F			Q02509	OC90_HUMAN	otoconin 90	432					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGGCACCCGAGTCTGCTTGGG	0.627000													10	36					0	0	0.006214	0	0
PTPN3	5774	broad.mit.edu	37	9	112168829	112168829	+	Missense_Mutation	SNP	C	C	G	rs59324117	byFrequency	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:112168829C>G	ENST00000412145.1	-	13	3865	c.1312G>C	c.(1312-1314)Gaa>Caa	p.E438Q	PTPN3_ENST00000446349.1_Missense_Mutation_p.E393Q|PTPN3_ENST00000374541.2_Missense_Mutation_p.E569Q|PTPN3_ENST00000394827.3_Missense_Mutation_p.E37Q|PTPN3_ENST00000262539.3_Missense_Mutation_p.E415Q	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	569					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCGTGTGTTCTGAGATGTCC	0.557000													87	134					0	0	0.014410	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671556	77671556	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:77671556C>G	ENST00000407578.2	-	56	9999	c.9733G>C	c.(9733-9735)Ggg>Cgg	p.G3245R	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3207R|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3207R	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3207	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTGACTCCCCACACAGTTCA	0.448000													14	29					0	0	0.004990	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44365306	44365306	+	Silent	SNP	T	T	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:44365306T>A	ENST00000262915.3	+	10	1035	c.858T>A	c.(856-858)ccT>ccA	p.P286P	ST3GAL3_ENST00000347631.2_Silent_p.P232P|ST3GAL3_ENST00000372375.2_Silent_p.P271P|ST3GAL3_ENST00000372368.2_Silent_p.P271P|ST3GAL3_ENST00000353126.3_Silent_p.P217P|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372372.2_Silent_p.P255P|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361400.4_Silent_p.P201P|ST3GAL3_ENST00000361392.4_Silent_p.P217P|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000351035.3_Silent_p.P255P|ST3GAL3_ENST00000372374.2_Silent_p.P186P|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000533933.1_Silent_p.P217P|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000531993.1_Silent_p.P201P|ST3GAL3_ENST00000361746.4_Silent_p.P286P|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372369.1_Silent_p.P217P|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.P186P	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	217					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TGCAGCGGCCTGAGCAGTACG	0.537000													42	54					0	0	0.010771	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999130	92999130	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:92999130C>A	ENST00000523629.1	-	8	1516	c.1062G>T	c.(1060-1062)tgG>tgT	p.W354C	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.W327C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.W327C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.W317C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.W354C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.W317C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.W317C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.W365C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	354	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAAGATGTTTCCACTCTTCTG	0.378000													6	215					0.00116845	0.00135592	0.001168	1	0
ITGAE	3682	broad.mit.edu	37	17	3631298	3631298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:3631298C>T	ENST00000263087.4	-	26	3097	c.2999G>A	c.(2998-3000)gGa>gAa	p.G1000E	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1000					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTATTCTGCTCCAAAGAGGTT	0.418000													36	42					0	0	0.004878	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375182	113375182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:113375182G>A	ENST00000316407.4	-	7	5757	c.5347C>T	c.(5347-5349)Ccc>Tcc	p.P1783S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1783S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1783					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTGGTGGGGGGCCAGTGTTT	0.418000													99	260					0	0	0.014410	0	0
HTR1B	3351	broad.mit.edu	37	6	78172918	78172918	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:78172918G>A	ENST00000369947.2	-	1	572	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	68					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AATCACAAAGGCATTGGAGAG	0.562000													74	121					0	0	0.014410	0	0
OR1C1	26188	broad.mit.edu	37	1	247921171	247921171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:247921171C>G	ENST00000408896.2	-	1	811	c.538G>C	c.(538-540)Gat>Cat	p.D180H		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGATTGAGATCACAGAAGAAA	0.483000													17	29					0	0	0.006122	0	0
KIF3C	3797	broad.mit.edu	37	2	26203809	26203809	+	Silent	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:26203809G>C	ENST00000264712.3	-	1	1557	c.978C>G	c.(976-978)ctC>ctG	p.L326L	KIF3C_ENST00000405914.1_Silent_p.L326L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	326	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGTCCTGGAGCAGCCGGG	0.607000													22	46					0	0	0.003954	0	0
APC	324	broad.mit.edu	37	5	112175991	112175991	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:112175991C>G	ENST00000457016.1	+	16	5080	c.4700C>G	c.(4699-4701)tCa>tGa	p.S1567*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S1567*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1567*			P25054	APC_HUMAN	adenomatous polyposis coli	1567	Asp/Glu-rich (acidic).|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTAGATGATTCAGATGATGAT	0.358000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			32	16					0	0	0.013726	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988641	17988641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:17988641G>A	ENST00000222248.3	+	6	1155	c.808G>A	c.(808-810)Gtg>Atg	p.V270M		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	270					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCAGCGCTACGTGGCTTGCCG	0.607000													45	67					0	0	0.014410	0	0
RAB26	25837	broad.mit.edu	37	16	2203334	2203334	+	Missense_Mutation	SNP	G	G	A	rs149402189	byFrequency	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:2203334G>A	ENST00000210187.6	+	9	843	c.683G>A	c.(682-684)cGc>cAc	p.R228H	RAB26_ENST00000541451.1_Missense_Mutation_p.R162H	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	228					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						TTGAAGCAGCGCTCCATGAAG	0.642000													26	48					0	0	0.009535	0	0
TLX1	3195	broad.mit.edu	37	10	102891411	102891411	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:102891411C>G	ENST00000370196.6	+	1	2155	c.113C>G	c.(112-114)tCg>tGg	p.S38W	TLX1_ENST00000467928.2_Missense_Mutation_p.S38W			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGACCCGCCTCGCGCCTCCAG	0.706000			T	"""TRB@, TRD@"""	T-ALL								8	15					0	0	0.006214	0	0
GAN	8139	broad.mit.edu	37	16	81399047	81399047	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:81399047C>T	ENST00000248272.3	+	9	1628	c.1466C>T	c.(1465-1467)aCt>aTt	p.T489I	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	489					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAGATGGTAACTTGCAAGTCC	0.468000													93	96					0	0	0.014410	0	0
MRPS22	56945	broad.mit.edu	37	3	139069822	139069822	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:139069822A>G	ENST00000495075.1	+	7	1084	c.652A>G	c.(652-654)Atg>Gtg	p.M218V	MRPS22_ENST00000465056.1_Missense_Mutation_p.M217V|MRPS22_ENST00000478464.1_Missense_Mutation_p.M177V|MRPS22_ENST00000310776.4_Missense_Mutation_p.M218V			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	218						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GTTTTAGACTATGTATAGCCA	0.468000													29	86					0	0	0.008361	0	0
MACF1	23499	broad.mit.edu	37	1	39951383	39951383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:39951383G>A	ENST00000564288.1	+	101	23362	c.22585G>A	c.(22585-22587)Ggg>Agg	p.G7529R	MACF1_ENST00000545844.1_Missense_Mutation_p.G5404R|MACF1_ENST00000289893.4_Missense_Mutation_p.G5912R|MACF1_ENST00000539005.1_Missense_Mutation_p.G5274R|MACF1_ENST00000567887.1_Missense_Mutation_p.G7566R|MACF1_ENST00000372915.3_Missense_Mutation_p.G7362R|MACF1_ENST00000317713.7_Missense_Mutation_p.G5404R|MACF1_ENST00000361689.2_Missense_Mutation_p.G5404R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7362					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCAGGAGAGGGCTAAACAA	0.542000													6	129					0	0	0.001984	0	0
MCM10	55388	broad.mit.edu	37	10	13240697	13240697	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:13240697G>T	ENST00000378694.1	+	15	2203	c.2128G>T	c.(2128-2130)Gaa>Taa	p.E710*	MCM10_ENST00000484800.2_Nonsense_Mutation_p.E711*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.E710*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	711					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGCTGAGGATGAATTGGAGCC	0.458000													45	61					8.94452e-30	1.18372e-29	0.014410	1	0
TCF21	6943	broad.mit.edu	37	6	134210616	134210616	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:134210616G>A	ENST00000367882.4	+	1	341	c.81G>A	c.(79-81)tcG>tcA	p.S27S	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.S27S	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	27					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AAATGGATTCGAACAAGGAAT	0.577000													44	57					0	0	0.009718	0	0
DALRD3	55152	broad.mit.edu	37	3	49053902	49053902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:49053902G>A	ENST00000440857.1	-	9	1307	c.605C>T	c.(604-606)aCc>aTc	p.T202I	DALRD3_ENST00000441576.2_Missense_Mutation_p.T369I|DALRD3_ENST00000341949.4_Missense_Mutation_p.T369I|DALRD3_ENST00000395462.4_Missense_Mutation_p.T202I|DALRD3_ENST00000313778.5_Missense_Mutation_p.T202I			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	369					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAACTTGATGGTGGCCACAGA	0.577000													22	8					0	0	0.002780	0	0
SUN5	140732	broad.mit.edu	37	20	31587898	31587898	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:31587898G>C	ENST00000356173.3	-	5	414	c.322C>G	c.(322-324)Ctg>Gtg	p.L108V	SUN5_ENST00000375519.2_Missense_Mutation_p.F85L|SUN5_ENST00000375523.3_Missense_Mutation_p.L83V	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	108					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CAGAGGAGCAGAATGCCTGTC	0.587000													13	71					0	0	0.002450	0	0
IL22	50616	broad.mit.edu	37	12	68645319	68645319	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:68645319G>T	ENST00000538666.1	-	5	506	c.436C>A	c.(436-438)Caa>Aaa	p.Q146K	IL22_ENST00000328087.4_Missense_Mutation_p.Q146K			Q9GZX6	IL22_HUMAN	interleukin 22	146					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TTCAGCTTTTGCACATTCCTC	0.363000													23	134					3.73808e-20	4.90525e-20	0.005443	1	0
NPIPA5	100288332	broad.mit.edu	37	16	15457778	15457778	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:15457778T>C	ENST00000360151.4	-	8	790	c.791A>G	c.(790-792)aAg>aGg	p.K264R		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		GGAAGGTGTCTTGAGGCTCAG	0.522000													14	181					0	0	0.002450	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212041	26212041	+	Silent	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chrX:26212041G>C	ENST00000379034.1	+	2	227	c.78G>C	c.(76-78)acG>acC	p.T26T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	26										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGGGTCTCACGGGTCCCCAGG	0.572000													30	16					0	0	0.008361	0	0
PIGG	54872	broad.mit.edu	37	4	499519	499519	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:499519G>A	ENST00000453061.2	+	3	479	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	PIGG_ENST00000310340.5_Missense_Mutation_p.G125R|PIGG_ENST00000509768.1_Missense_Mutation_p.G36R|PIGG_ENST00000503111.1_Missense_Mutation_p.G36R|PIGG_ENST00000536264.1_Missense_Mutation_p.G3R|PIGG_ENST00000296306.7_Missense_Mutation_p.G36R|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000504346.1_Missense_Mutation_p.G36R	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	125					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ATTGATGACGGGGAGCCTTCC	0.438000													3	50					0	0	0.004672	0	0
GRIP2	80852	broad.mit.edu	37	3	14565164	14565164	+	RNA	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:14565164C>T	ENST00000273083.3	-	0	510							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TAGAGGGAGACGTCCACTGTC	0.498000													7	3					0	0	0.003080	0	0
NLRP14	338323	broad.mit.edu	37	11	7063670	7063670	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:7063670G>T	ENST00000299481.4	+	4	759	c.413G>T	c.(412-414)tGg>tTg	p.W138L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	138					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGCATCACTTGGGACAAGAAG	0.363000													30	16					1.39806e-14	1.77467e-14	0.008361	1	0
ACSL5	51703	broad.mit.edu	37	10	114158684	114158684	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:114158684A>G	ENST00000393081.1	+	3	489	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	ACSL5_ENST00000356116.1_Missense_Mutation_p.Q117R|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Missense_Mutation_p.Q61R|ACSL5_ENST00000433418.1_Missense_Mutation_p.Q61R|ACSL5_ENST00000354273.4_Missense_Mutation_p.Q61R	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	61					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGGGTTTCCCAGAAGAACAAT	0.463000													55	73					0	0	0.014410	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384617	62384617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:62384617G>A	ENST00000531383.1	-	3	666	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	B3GAT3_ENST00000265471.5_Missense_Mutation_p.H154Y|B3GAT3_ENST00000534026.1_Missense_Mutation_p.H154Y			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	154					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CCACGGGGATGAACCCAGCCA	0.687000													33	46					0	0	0.003755	0	0
AOAH	313	broad.mit.edu	37	7	36633994	36633994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:36633994C>G	ENST00000431169.1	-	12	1189	c.889G>C	c.(889-891)Gac>Cac	p.D297H	AOAH_ENST00000538464.1_Missense_Mutation_p.D19H|AOAH_ENST00000535891.1_Missense_Mutation_p.D265H|AOAH_ENST00000258749.5_Missense_Mutation_p.D297H	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	297					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGGGGCCAGTCAAGCTCGTTG	0.408000													31	79					0	0	0.012213	0	0
ZNF507	22847	broad.mit.edu	37	19	32844322	32844322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:32844322C>T	ENST00000311921.3	+	2	778	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	ZNF507_ENST00000355898.5_Missense_Mutation_p.P196S|ZNF507_ENST00000544431.1_Missense_Mutation_p.P196S|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GTGCGTAAGCCCCTCCAGCTC	0.468000													37	49					0	0	0.005524	0	0
XKR4	114786	broad.mit.edu	37	8	56270346	56270346	+	Silent	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:56270346G>T	ENST00000327381.5	+	2	1015	c.915G>T	c.(913-915)ctG>ctT	p.L305L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	305						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGAGTATGCTGCATTTGCTAG	0.473000													43	37					2.19962e-31	2.92343e-31	0.008740	1	0
LAMB3	3914	broad.mit.edu	37	1	209796421	209796421	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:209796421A>C	ENST00000391911.1	-	16	2851	c.2462T>G	c.(2461-2463)gTc>gGc	p.V821G	LAMB3_ENST00000367030.3_Missense_Mutation_p.V821G|LAMB3_ENST00000356082.4_Missense_Mutation_p.V821G	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	821	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCTGGGAAGGACACCCCTGCA	0.632000													44	60					0	0	0.011902	0	0
BSX	390259	broad.mit.edu	37	11	122850009	122850009	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:122850009C>T	ENST00000343035.2	-	2	467	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	140										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CAGCTCCACTCGTTCTGGCGT	0.637000													42	97					0	0	0.010771	0	0
NRK	203447	broad.mit.edu	37	X	105179222	105179222	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chrX:105179222T>C	ENST00000428173.2	+	21	3866	c.3563T>C	c.(3562-3564)gTt>gCt	p.V1188A	NRK_ENST00000243300.9_Missense_Mutation_p.V1187A			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1187							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAAGTCAATGTTAACCCACTC	0.418000										HNSCC(51;0.14)			61	26					0	0	0.014410	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													3	138					0	0	0.004672	0	0
CCT5	22948	broad.mit.edu	37	5	10256236	10256236	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:10256236G>A	ENST00000280326.4	+	4	921	c.501G>A	c.(499-501)caG>caA	p.Q167Q	CCT5_ENST00000503026.1_Silent_p.Q146Q|CCT5_ENST00000506600.1_Silent_p.Q74Q|CCT5_ENST00000515676.1_Silent_p.Q129Q|CCT5_ENST00000515390.1_Silent_p.Q112Q	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	167					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CCCTGATTCAGACAGCAAAAA	0.468000													22	26					0	0	0.012319	0	0
KIAA1614	57710	broad.mit.edu	37	1	180910242	180910242	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:180910242A>G	ENST00000367588.4	+	7	3035	c.2980A>G	c.(2980-2982)Aag>Gag	p.K994E	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K615E	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	994	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGACCAGAACAAGAAAAGGAG	0.642000													6	47					0	0	0.001984	0	0
CLCA1	1179	broad.mit.edu	37	1	86961316	86961316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:86961316C>T	ENST00000234701.3	+	13	2422	c.2071C>T	c.(2071-2073)Cag>Tag	p.Q691*	CLCA1_ENST00000394711.1_Nonsense_Mutation_p.Q691*			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	691					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AGTGATACCCCAGCAGAGTGG	0.448000													21	7					0	0	0.014323	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75552076	75552076	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:75552076T>A	ENST00000604729.1	+	10	2076	c.1779T>A	c.(1777-1779)agT>agA	p.S593R	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S593R|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S593R|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.S593R|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S593R					zinc finger, SWIM-type containing 8																		GGGCTGGCAGTGGGAGCAAGG	0.642000													13	17					0	0	0.002450	0	0
CDK11B	984	broad.mit.edu	37	1	1586834	1586834	+	Silent	SNP	A	A	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:1586834A>T	ENST00000407249.3	-	2	215	c.216T>A	c.(214-216)tcT>tcA	p.S72S	CDK11B_ENST00000317673.7_Silent_p.S72S|CDK11B_ENST00000340677.5_Silent_p.S72S|CDK11B_ENST00000341832.6_Silent_p.S38S			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	72					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TGTCTTCCATAGAGTCTTCTC	0.547000													4	28					0	0	0.000602	0	0
AATF	26574	broad.mit.edu	37	17	35306512	35306512	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:35306512G>A	ENST00000225402.5	+	1	338	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	29					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				CGGACCCCGAGGAAGGTGAGG	0.746000													3	6					0	0	0.004672	0	0
KRT76	51350	broad.mit.edu	37	12	53164843	53164843	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:53164843T>G	ENST00000332411.2	-	7	1477	c.1424A>C	c.(1423-1425)aAg>aCg	p.K475T		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	475	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGGCCAGCTTGACGTTCAT	0.572000													9	116					0	0	0.008291	0	0
NOTCH3	4854	broad.mit.edu	37	19	15288423	15288423	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:15288423T>C	ENST00000263388.2	-	24	4391	c.4316A>G	c.(4315-4317)aAc>aGc	p.N1439S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1439					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCAGCGGCTGTTGTTGAAGAG	0.701000													7	2					0	0	0.001984	0	0
TM7SF2	7108	broad.mit.edu	37	11	64883456	64883456	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:64883456G>A	ENST00000279263.7	+	10	1350	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	TM7SF2_ENST00000540748.1_Silent_p.Q280Q|TM7SF2_ENST00000345348.5_Silent_p.Q369Q	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	396					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTGCCTGCAGAAGTACGGCC	0.632000													21	32					0	0	0.012319	0	0
TLR1	7096	broad.mit.edu	37	4	38798908	38798908	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:38798908C>A	ENST00000308979.2	-	4	1818	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	TLR1_ENST00000502213.2_Missense_Mutation_p.K515N	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	515					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGACCTCATCTTCTGGCAGC	0.433000													121	37					1.50762e-44	2.05645e-44	0.014410	1	0
OBSCN	84033	broad.mit.edu	37	1	228492963	228492963	+	Silent	SNP	A	A	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:228492963A>G	ENST00000570156.2	+	54	14480	c.14406A>G	c.(14404-14406)agA>agG	p.R4802R	OBSCN_ENST00000366707.4_Silent_p.R1479R|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3845					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGGGGACAGATACAACCTGA	0.567000													59	89					0	0	0.014410	0	0
AKAP8L	26993	broad.mit.edu	37	19	15514345	15514345	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:15514345C>T	ENST00000397410.4	-	4	367	c.303G>A	c.(301-303)atG>atA	p.M101I	AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Intron	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	101						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATGCGGCACCATATCTAAGC	0.537000													65	101					0	0	0.014410	0	0
DVL3	1857	broad.mit.edu	37	3	183885748	183885748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:183885748C>T	ENST00000313143.3	+	13	1641	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	DVL3_ENST00000431765.1_Missense_Mutation_p.R448C|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	465	DEP.			R -> P (in Ref. 1; AAB47447).	canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GAGGGAGGCCCGCAAGTATGC	0.577000													41	117					0	0	0.006230	0	0
MDM1	56890	broad.mit.edu	37	12	68719244	68719244	+	Missense_Mutation	SNP	C	C	A	rs138314442		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:68719244C>A	ENST00000303145.7	-	4	696	c.610G>T	c.(610-612)Gct>Tct	p.A204S	MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	204						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AAAGCTGGAGCAGTTTCTTTA	0.348000													103	380					2.98183e-41	4.04956e-41	0.014410	1	0
CAMTA1	23261	broad.mit.edu	37	1	7798213	7798213	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:7798213G>A	ENST00000303635.7	+	16	4060	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E1285K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCTGTCCCCGAGACACTCAG	0.552000			T	WWTR1	epitheliod hemangioendothelioma								23	14					0	0	0.014323	0	0
RNFT1	51136	broad.mit.edu	37	17	58042024	58042024	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:58042024T>C	ENST00000305783.8	-	1	56	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RNFT1_ENST00000442346.2_5'UTR|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	1						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			AACAGCGGCATACACCGCCTC	0.701000													6	9					0	0	0.001984	0	0
RAB1B	81876	broad.mit.edu	37	11	66039643	66039643	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:66039643G>C	ENST00000311481.6	+	3	250	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	RAB1B_ENST00000527397.1_Missense_Mutation_p.E35Q|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	35					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CACGTACACAGAGAGCTACAT	0.527000													74	150					0	0	0.014410	0	0
OR11L1	391189	broad.mit.edu	37	1	248005020	248005020	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:248005020T>A	ENST00000355784.2	-	1	234	c.179A>T	c.(178-180)tAc>tTc	p.Y60F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGGAACATGTACATAGGGGA	0.547000													12	21					0	0	0.013537	0	0
MYH14	79784	broad.mit.edu	37	19	50713685	50713685	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:50713685C>T	ENST00000440075.2	+	2	110	c.63C>T	c.(61-63)ccC>ccT	p.P21P	MYH14_ENST00000598205.1_Silent_p.P21P|MYH14_ENST00000376970.2_Silent_p.P21P|MYH14_ENST00000601313.1_Silent_p.P21P|MYH14_ENST00000425460.1_Silent_p.P21P|MYH14_ENST00000596571.1_Silent_p.P21P|MYH14_ENST00000262269.8_Silent_p.P21P			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	21	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCCAGTGCCCGAGGCGGCCC	0.756000													5	1					0	0	0.000602	0	0
CCDC151	115948	broad.mit.edu	37	19	11537725	11537725	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:11537725C>G	ENST00000356392.4	-	4	667	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	CCDC151_ENST00000586836.1_Missense_Mutation_p.E3Q|CCDC151_ENST00000591179.1_Missense_Mutation_p.E168Q|CCDC151_ENST00000545100.1_Missense_Mutation_p.E140Q	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	194										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TTTTGCGCCTCCGCCATCTCC	0.677000													30	45					0	0	0.003271	0	0
PRKD3	23683	broad.mit.edu	37	2	37506980	37506980	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:37506980C>T	ENST00000379066.1	-	8	1843	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PRKD3_ENST00000234179.2_Missense_Mutation_p.E361K			O94806	KPCD3_HUMAN	protein kinase D3	361					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GATGGCTCTTCTGTGTCATCC	0.398000													50	49					0	0	0.014410	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													3	140					0	0	0.004672	0	0
CCDC36	339834	broad.mit.edu	37	3	49278823	49278823	+	Splice_Site	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:49278823G>T	ENST00000438782.1	+	4	631		c.e4+1		CCDC36_ENST00000366429.2_Splice_Site|CCDC36_ENST00000296449.5_Splice_Site|CCDC36_ENST00000452691.2_Splice_Site|CCDC36_ENST00000451634.2_Splice_Site			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36											endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AATGTGACAGGTATGTAAACC	0.343000													13	6					1.05317e-09	1.28951e-09	0.002450	1	0
FGF23	8074	broad.mit.edu	37	12	4479837	4479837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:4479837C>G	ENST00000237837.1	-	3	573	c.428G>C	c.(427-429)aGa>aCa	p.R143T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	143					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CAGGAAGGCTCTCTTCGCCCG	0.597000													68	110					0	0	0.014410	0	0
OR10A6	390093	broad.mit.edu	37	11	7950014	7950014	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:7950014A>C	ENST00000309838.2	-	1	195	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCACAGATAAGTTCAGGAGA	0.443000													61	29					0	0	0.014410	0	0
AP1G2	8906	broad.mit.edu	37	14	24034829	24034829	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:24034829C>T	ENST00000308724.5	-	6	1482	c.727G>A	c.(727-729)Gac>Aac	p.D243N	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.D243N|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	243					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGGAAGGGGTCGCTGACTCCA	0.557000													16	31					0	0	0.007413	0	0
SRSF6	6431	broad.mit.edu	37	20	42087030	42087030	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:42087030G>T	ENST00000244020.3	+	2	243	c.137G>T	c.(136-138)cGc>cTc	p.R46L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	46	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GAGGACTCCCGCGACGCCGAC	0.721000													4	0					0.00024832	0.000291425	0.009096	1	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874373	74874373	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:74874373C>T	ENST00000331628.3	-	4	829	c.582G>A	c.(580-582)ggG>ggA	p.G194G	SYNDIG1L_ENST00000554823.1_Silent_p.G194G	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	194					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GGCGGAAGTCCCCTTTGGAGA	0.662000													33	69					0	0	0.004289	0	0
OR6C75	390323	broad.mit.edu	37	12	55759093	55759093	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:55759093C>T	ENST00000343399.3	+	1	199	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTCTCATTCCTGGAAATTTC	0.443000													81	119					0	0	0.014410	0	0
MORC3	23515	broad.mit.edu	37	21	37741537	37741537	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr21:37741537C>G	ENST00000400485.1	+	15	1947	c.1871C>G	c.(1870-1872)tCa>tGa	p.S624*	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	624					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CAGACTGGTTCAACAAGCACC	0.448000													33	78					0	0	0.013726	0	0
ARG2	384	broad.mit.edu	37	14	68108986	68108986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:68108986C>T	ENST00000261783.3	+	3	448	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	90					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	AGTGAATCCACGCTCAGTGGG	0.507000													24	31					0	0	0.002780	0	0
CNTN5	53942	broad.mit.edu	37	11	100211833	100211833	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:100211833C>G	ENST00000524871.1	+	23	3216	c.2926C>G	c.(2926-2928)Caa>Gaa	p.Q976E	CNTN5_ENST00000528682.1_Missense_Mutation_p.Q976E|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q976E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q902E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	976	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCTCCTAGTCAAGCACCTAG	0.428000													4	110					0	0	0.009096	0	0
TLK2	11011	broad.mit.edu	37	17	60685501	60685501	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:60685501G>C	ENST00000582809.1	+	22	2327	c.1624G>C	c.(1624-1626)Gaa>Caa	p.E542Q	TLK2_ENST00000346027.5_Missense_Mutation_p.E691Q|TLK2_ENST00000542523.1_Missense_Mutation_p.E659Q|TLK2_ENST00000326270.9_Missense_Mutation_p.E713Q|TLK2_ENST00000343388.7_Missense_Mutation_p.E659Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	713	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGTAACACCTGAAGCAAAGGT	0.433000													35	29					0	0	0.003271	0	0
LARP4B	23185	broad.mit.edu	37	10	863817	863817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:863817G>A	ENST00000316157.3	-	14	1583	c.1543C>T	c.(1543-1545)Cag>Tag	p.Q515*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	515							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GTTGGAGACTGTGTCTGGCTG	0.557000													23	49					0	0	0.014323	0	0
SYNE2	23224	broad.mit.edu	37	14	64518544	64518544	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:64518544C>G	ENST00000358025.3	+	48	8143	c.7913C>G	c.(7912-7914)aCt>aGt	p.T2638S	SYNE2_ENST00000554584.1_Missense_Mutation_p.T2671S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.T2638S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2638					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	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)		GTACAGGACACTGAGATTTCT	0.448000													14	99					0	0	0.002450	0	0
SEC1P	653677	broad.mit.edu	37	19	49183902	49183902	+	RNA	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:49183902G>A	ENST00000430145.2	+	0	989					NR_004401.2																						CATGCCGCGCGTATGGAAGGG	0.697000													9	11					0	0	0.010729	0	0
LIPN	643418	broad.mit.edu	37	10	90521213	90521213	+	Silent	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:90521213T>C	ENST00000404459.1	+	1	51	c.51T>C	c.(49-51)aaT>aaC	p.N17N		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	17					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		GAACTTTAAATGCTGGTGGAT	0.343000													39	62					0	0	0.011902	0	0
ITGA4	3676	broad.mit.edu	37	2	182387035	182387035	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:182387035C>T	ENST00000397033.2	+	18	2470	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	680					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.P680P(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TCAAACTACCCGTGGGTCTTT	0.338000													25	47					0	0	0.002780	0	0
ASAP1	50807	broad.mit.edu	37	8	131073299	131073299	+	Silent	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:131073299T>C	ENST00000357668.1	-	27	2745	c.2718A>G	c.(2716-2718)acA>acG	p.T906T	ASAP1_ENST00000518721.1_Silent_p.T906T			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	906	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGAGATGATCTGTTTTCCTTA	0.493000													83	271					0	0	0.014410	0	0
VPS13B	157680	broad.mit.edu	37	8	100513954	100513954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:100513954G>A	ENST00000395996.1	+	26	4021	c.3910G>A	c.(3910-3912)Gat>Aat	p.D1304N	VPS13B_ENST00000358544.2_Missense_Mutation_p.D1304N|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1304N			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1304					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCATTCTCAGATTCTGTGAC	0.368000													95	129					0	0	0.014410	0	0
LRPPRC	10128	broad.mit.edu	37	2	44162018	44162018	+	Splice_Site	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:44162018C>A	ENST00000260665.7	-	24	2562		c.e24-1			NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAGGTCGCCCCTTAGAAACAA	0.328000													23	38					2.21704e-12	2.75799e-12	0.002780	1	0
CSPG4	1464	broad.mit.edu	37	15	75982451	75982451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr15:75982451G>A	ENST00000308508.5	-	3	1047	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	319	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGACTGCCCCGTGGCTCCAGG	0.617000													12	7					0	0	0.001855	0	0
FSCN1	6624	broad.mit.edu	37	7	5632776	5632776	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:5632776T>A	ENST00000382361.3	+	1	323	c.209T>A	c.(208-210)cTg>cAg	p.L70Q	FSCN1_ENST00000340250.6_Missense_Mutation_p.L49Q	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	70					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GGCCGCTACCTGGCGGCGGAC	0.706000													4	10					0	0	0.009096	0	0
NBPF15	284565	broad.mit.edu	37	1	148594407	148594407	+	Missense_Mutation	SNP	G	G	A	rs144416833	byFrequency	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:148594407G>A	ENST00000442702.2	+	21	2847	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	594	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					GCTCTACGGCGTGCTGATGGA	0.458000													124	192					0	0	0.014410	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102993566	102993566	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:102993566A>C	ENST00000375735.2	+	11	1642	c.1498A>C	c.(1498-1500)Atc>Ctc	p.I500L	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.I500L|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I500L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	500	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGATGATACTATCAAGATTGC	0.358000													15	25					0	0	0.007413	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356496	22356496	+	RNA	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:22356496C>A	ENST00000390437.2	+	0	259																											CCGAGGTTCCCAGTCCTTCTT	0.478000													44	64					1.47197e-15	1.87616e-15	0.007835	1	0
UBN2	254048	broad.mit.edu	37	7	138968956	138968956	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:138968956G>C	ENST00000288561.8	+	15	3305	c.3056G>C	c.(3055-3057)aGc>aCc	p.S1019T	UBN2_ENST00000473989.2_Missense_Mutation_p.S1102T	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1102	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCCCAGGGTAGCCACTCCAGC	0.473000													59	66					0	0	0.014410	0	0
OR2T12	127064	broad.mit.edu	37	1	248458698	248458698	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:248458698C>T	ENST00000317996.1	-	1	182	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AAAGTTGGCTCAGGAGGAAGT	0.552000													54	58					0	0	0.014410	0	0
ZNF768	79724	broad.mit.edu	37	16	30536326	30536326	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:30536326C>A	ENST00000380412.5	-	2	1310	c.1135G>T	c.(1135-1137)Ggc>Tgc	p.G379C	ZNF768_ENST00000562803.1_Missense_Mutation_p.G348C	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	379					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAGCACTTGCCGCACTCGGTG	0.637000													23	20					2.41591e-17	3.13062e-17	0.004656	1	0
TCIRG1	10312	broad.mit.edu	37	11	67816400	67816400	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:67816400A>T	ENST00000265686.3	+	14	1717	c.1609A>T	c.(1609-1611)Atg>Ttg	p.M537L	TCIRG1_ENST00000532635.1_Missense_Mutation_p.M321L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	537					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CAAGATGAAGATGTCCGTCAT	0.632000													62	86					0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113323395	113323395	+	Splice_Site	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:113323395G>T	ENST00000297405.5	-	50	7941	c.7696_splice	c.e50-1	p.A2566_splice	CSMD3_ENST00000343508.3_Splice_Site_p.A2526_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A2462_splice|CSMD3_ENST00000352409.3_Splice_Site_p.A2496_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2566	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAGTAGAAAGCTTTTCAAAA	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	59					4.93089e-13	6.20853e-13	0.002450	1	0
NAALAD2	10003	broad.mit.edu	37	11	89902099	89902099	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:89902099G>C	ENST00000534061.1	+	12	1511	c.1281G>C	c.(1279-1281)gaG>gaC	p.E427D	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E394D	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	427	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AACTACAGGAGAATGTCAAAA	0.303000													12	42					0	0	0.001855	0	0
DST	667	broad.mit.edu	37	6	56481828	56481828	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:56481828G>T	ENST00000370765.6	-	24	6544	c.6437C>A	c.(6436-6438)tCt>tAt	p.S2146Y	DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1532					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTTTTGTAGATTCTAGGTA	0.423000													21	53					2.21704e-12	2.75799e-12	0.002780	1	0
SGK223	157285	broad.mit.edu	37	8	8234394	8234394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:8234394C>A	ENST00000520004.1	-	3	1789	c.1525G>T	c.(1525-1527)Gag>Tag	p.E509*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.E509*			Q86YV5	SG223_HUMAN		509							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCACCTACCTCGGAGTTCTGG	0.652000													13	8					0.000219431	0.000258497	0.002450	1	0
DEFB116	245930	broad.mit.edu	37	20	29891043	29891043	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:29891043G>T	ENST00000400549.1	-	2	280	c.281C>A	c.(280-282)aCa>aAa	p.T94K		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	94					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGAACTGTTTGTAACTGACAA	0.383000													83	183					3.76054e-38	5.06289e-38	0.014410	1	0
LY75	4065	broad.mit.edu	37	2	160663608	160663608	+	Silent	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:160663608G>C	ENST00000263636.4	-	34	4893	c.4866C>G	c.(4864-4866)gtC>gtG	p.V1622V	LY75_ENST00000554112.1_Silent_p.V1622V|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75-CD302_ENST00000504764.1_Silent_p.V1622V	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTCCCATTTGACAAATGTCA	0.343000													15	40					0	0	0.003163	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336596	39336596	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:39336596G>C	ENST00000221419.5	-	3	887	c.521C>G	c.(520-522)tCt>tGt	p.S174C	HNRNPL_ENST00000600873.1_Missense_Mutation_p.S41C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	174	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTGGCTGGTAGAGTAGTTGAC	0.522000													51	98					0	0	0.014410	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264849	50264849	+	Silent	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr15:50264849G>T	ENST00000284509.6	-	13	1314	c.1173C>A	c.(1171-1173)tcC>tcA	p.S391S	ATP8B4_ENST00000559829.1_Silent_p.S391S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	391					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCGTTTTGTCGGAGAAAATGT	0.433000													20	3					3.7963e-18	4.96072e-18	0.003330	1	0
GLT8D2	83468	broad.mit.edu	37	12	104390557	104390557	+	Missense_Mutation	SNP	C	C	T	rs7133444		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:104390557C>T	ENST00000360814.4	-	8	961	c.556G>A	c.(556-558)Gat>Aat	p.D186N	GLT8D2_ENST00000548660.1_Missense_Mutation_p.D186N|GLT8D2_ENST00000546436.1_Missense_Mutation_p.D186N	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	186						integral to membrane	transferase activity, transferring glycosyl groups	p.D186N(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAGGGCAAATCGCAGTCATCT	0.502000													59	19					0	0	0.014410	0	0
SOS2	6655	broad.mit.edu	37	14	50616839	50616839	+	Silent	SNP	T	T	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:50616839T>A	ENST00000216373.5	-	14	2545	c.2271A>T	c.(2269-2271)ccA>ccT	p.P757P	SOS2_ENST00000543680.1_Silent_p.P724P	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	757	Poly-Pro.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATTCAATTGGTGGAGGTGGAC	0.408000													50	94					0	0	0.014410	0	0
LRP1	4035	broad.mit.edu	37	12	57594938	57594938	+	Splice_Site	SNP	T	T	C	rs111522273		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:57594938T>C	ENST00000243077.3	+	65	10811		c.e65+2			NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|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)	GGGACTGCCGTGAGTGTCAGA	0.567000													45	84					0	0	0.014410	0	0
POTEH	23784	broad.mit.edu	37	22	16279295	16279295	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr22:16279295G>T	ENST00000343518.6	-	4	979	c.928C>A	c.(928-930)Ctc>Atc	p.L310I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	310										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AGTGGTGTGAGGCCATGCTGT	0.323000													36	510					2.215e-12	2.75799e-12	0.011902	1	0
COL4A3BP	10087	broad.mit.edu	37	5	74801935	74801935	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:74801935T>C	ENST00000380494.5	-	3	780	c.487A>G	c.(487-489)Aac>Gac	p.N163D	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.N35D|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.N35D	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	35					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGAATGTAGTTTGTCCACTGG	0.378000													26	4					0	0	0.003954	0	0
BAG4	9530	broad.mit.edu	37	8	38034614	38034614	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:38034614G>A	ENST00000287322.4	+	1	498	c.227G>A	c.(226-228)gGa>gAa	p.G76E	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.G76E	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	76					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TATCCCTCGGGAGGCGCCTGG	0.706000													21	6					0	0	0.012319	0	0
PIK3R4	30849	broad.mit.edu	37	3	130425836	130425836	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:130425836C>G	ENST00000356763.3	-	11	3234	c.2677G>C	c.(2677-2679)Gag>Cag	p.E893Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	893					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCAGAGGACTCGGAACGAGGA	0.502000													3	53					0	0	0.004672	0	0
CC2D1B	200014	broad.mit.edu	37	1	52823543	52823543	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:52823543C>G	ENST00000371586.2	-	14	1645	c.1507G>C	c.(1507-1509)Gcc>Ccc	p.A503P	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.A497P	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	503										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGTTTCTTGGCCACTGGGGCC	0.632000													30	11					0	0	0.013726	0	0
MAGED1	9500	broad.mit.edu	37	X	51639730	51639730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chrX:51639730C>T	ENST00000375695.2	+	5	1300	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Nonsense_Mutation_p.Q327*|MAGED1_ENST00000326587.7_Nonsense_Mutation_p.Q327*|MAGED1_ENST00000375722.1_Nonsense_Mutation_p.Q327*	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	327	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCCAGCTAGGCAGACCCCACC	0.602000										Multiple Myeloma(10;0.10)			30	9					0	0	0.009535	0	0
MEF2C	4208	broad.mit.edu	37	5	88018742	88018742	+	Splice_Site	SNP	T	T	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:88018742T>C	ENST00000504921.2	-	10	1773	c.1100_splice	c.e10-1	p.G367_splice	MEF2C_ENST00000340208.5_Splice_Site_p.G377_splice|MEF2C_ENST00000510942.1_Splice_Site_p.G359_splice|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000514028.1_Splice_Site_p.G367_splice|MEF2C_ENST00000424173.2_Splice_Site_p.G357_splice|MEF2C_ENST00000437473.2_Splice_Site_p.G367_splice|MEF2C_ENST00000539796.1_Splice_Site_p.G311_splice|MEF2C_ENST00000514015.1_Intron			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	367					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TAGTGCAAGCTCTGTAGGAGG	0.463000										HNSCC(66;0.2)			4	7					0	0	0.009096	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184366790	184366790	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:184366790G>A	ENST00000504169.1	+	2	582	c.375G>A	c.(373-375)gtG>gtA	p.V125V	CDKN2AIP_ENST00000302350.4_Intron|CDKN2AIP_ENST00000510928.1_Silent_p.V125V|CDKN2AIP_ENST00000506835.1_Intron	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	125					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTGCCAAGGTGAAGAAAAGAG	0.363000													17	8					0	0	0.006122	0	0
LIN9	286826	broad.mit.edu	37	1	226454018	226454018	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:226454018C>T	ENST00000328205.5	-	9	1425	c.880G>A	c.(880-882)Gag>Aag	p.E294K	LIN9_ENST00000481685.1_Missense_Mutation_p.E259K|LIN9_ENST00000366801.1_Missense_Mutation_p.E243K	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	278	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GGCATTGTCTCATGAGGTTCA	0.363000													9	23					0	0	0.010729	0	0
ITGB6	3694	broad.mit.edu	37	2	160994637	160994637	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:160994637C>T	ENST00000283249.2	-	9	1418	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	ITGB6_ENST00000409872.1_Missense_Mutation_p.C394Y|ITGB6_ENST00000428609.2_Missense_Mutation_p.C352Y|ITGB6_ENST00000409967.2_Missense_Mutation_p.C394Y			P18564	ITB6_HUMAN	integrin, beta 6	394					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACCGTTGTTACAGATGGCTGT	0.428000													6	134					0	0	0.001168	0	0
ITGAD	3681	broad.mit.edu	37	16	31422110	31422110	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:31422110G>T	ENST00000389202.2	+	12	1316	c.1267G>T	c.(1267-1269)Gcc>Tcc	p.A423S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	423					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCCTGGGGGCCCCCCGCTA	0.642000													25	53					7.38237e-10	9.07477e-10	0.006320	1	0
EFEMP1	2202	broad.mit.edu	37	2	56149558	56149558	+	Silent	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:56149558G>A	ENST00000394555.2	-	2	453	c.18C>T	c.(16-18)ttC>ttT	p.F6F	EFEMP1_ENST00000355426.3_Silent_p.F6F|EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000394554.1_Silent_p.F6F|EFEMP1_ENST00000497698.1_5'UTR	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	6					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCATAGTTAGGAAAAGGGCTT	0.428000													66	71					0	0	0.014410	0	0
GPR112	139378	broad.mit.edu	37	X	135439890	135439890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chrX:135439890G>C	ENST00000394143.1	+	10	7246	c.6955G>C	c.(6955-6957)Gct>Cct	p.A2319P	GPR112_ENST00000394141.1_Missense_Mutation_p.A2114P|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.A2114P|GPR112_ENST00000370652.1_Missense_Mutation_p.A2319P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2319					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAAGAAATGGCTACAATTTC	0.348000													5	126					0	0	0.001984	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51281127	51281127	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:51281127G>A	ENST00000398458.3	+	5	910	c.878G>A	c.(877-879)gGc>gAc	p.G293D	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	293	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TACGGACATGGCTGTGGTCGA	0.433000													53	73					0	0	0.014410	0	0
USP7	7874	broad.mit.edu	37	16	8990890	8990890	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:8990890C>G	ENST00000344836.4	-	26	2983	c.2785G>C	c.(2785-2787)Gtg>Ctg	p.V929L	USP7_ENST00000535863.1_Missense_Mutation_p.V830L|USP7_ENST00000381886.4_Missense_Mutation_p.V913L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	929					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	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						CCAAGCTCCACGGCCTTTTTA	0.438000													13	251					0	0	0.004007	0	0
GPR98	84059	broad.mit.edu	37	5	89988434	89988434	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:89988434C>A	ENST00000405460.2	+	32	7060	c.6964C>A	c.(6964-6966)Caa>Aaa	p.Q2322K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2322	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATCCAAGTGCAACTAACTGA	0.348000													9	4					0.00829132	0.00951513	0.008291	1	0
HHIPL1	84439	broad.mit.edu	37	14	100125954	100125954	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:100125954C>T	ENST00000330710.5	+	4	1334	c.1236C>T	c.(1234-1236)cgC>cgT	p.R412R	HHIPL1_ENST00000357223.2_Silent_p.R412R	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	412					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCACTGGCCGCGGGCGCCTCT	0.726000													6	4					0	0	0.001168	0	0
TRIM27	5987	broad.mit.edu	37	6	28871930	28871930	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:28871930G>C	ENST00000377199.3	-	8	1815	c.1459C>G	c.(1459-1461)Ctg>Gtg	p.L487V	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	487	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CAGATGATCAGAGGAGCTGCA	0.527000			T	RET	papillary thyroid								57	63					0	0	0.014410	0	0
KMT2B	9757	broad.mit.edu	37	19	36210733	36210733	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:36210733C>T	ENST00000222270.7	+	3	484	c.484C>T	c.(484-486)Cct>Tct	p.P162S	WBP7_ENST00000341701.1_Missense_Mutation_p.P162S|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P162S	NM_014727.1	NP_055542.1																					GACCCCCCTTCCTCCTCCTCG	0.607000													52	97					0	0	0.014410	0	0
KRI1	65095	broad.mit.edu	37	19	10675688	10675688	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:10675688C>T	ENST00000312962.6	-	3	228	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	KRI1_ENST00000361821.5_Missense_Mutation_p.R66Q|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	70										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GTAAAAGTCCCGCTCCTGCTG	0.522000											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	65					0	0	0.013726	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868743	22868743	+	Silent	SNP	C	C	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr22:22868743C>T	ENST00000302097.3	-	2	1464	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CAGCAAAGACCGACGATCTGT	0.413000													6	116					0	0	0.001168	0	0
AHDC1	27245	broad.mit.edu	37	1	27875791	27875792	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:27875791_27875792insG	ENST00000374011.2	-	6	3803_3804	c.2835_2836insC	c.(2833-2838)ccagctfs	p.A946fs	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.A946fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	946							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCACCAGCTTGGGGAAGGTCT	0.678													56	33	---	---	---	---					
SLC6A9	6536	broad.mit.edu	37	1	44467092	44467094	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:44467092_44467094delGAA	ENST00000372310.3	-	9	1333_1335	c.1168_1170delTTC	c.(1168-1170)del	p.F390del	SLC6A9_ENST00000357730.2_In_Frame_Del_p.F409del|SLC6A9_ENST00000475075.2_In_Frame_Del_p.F279del|SLC6A9_ENST00000372306.3_In_Frame_Del_p.F390del|SLC6A9_ENST00000537678.1_In_Frame_Del_p.F325del|SLC6A9_ENST00000360584.2_In_Frame_Del_p.F463del|SLC6A9_ENST00000372307.3_In_Frame_Del_p.F325del	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	463						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGATAAGCATGAAGAAGAAGAGC	0.640													29	68	---	---	---	---					
NBPF18P	441908	broad.mit.edu	37	1	151992831	151992831	+	RNA	DEL	G	G	-			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:151992831delG	ENST00000432386.1	+	0	2480					NR_103561.1																						GCGGCCCCGTGGGGGCAGGCA	0.567													42	75	---	---	---	---					
ETV5	2119	broad.mit.edu	37	3	185797720	185797721	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:185797720_185797721insG	ENST00000306376.5	-	7	781_782	c.535_536insC	c.(535-537)ttcfs	p.F179fs	ETV5_ENST00000537818.1_Frame_Shift_Ins_p.F221fs|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Frame_Shift_Ins_p.F179fs	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	179					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TGGAAGCGAATGGGGGGCGGGG	0.614			T	"""TMPRSS2, SCL45A3"""	Prostate								40	181	---	---	---	---					
RREB1	6239	broad.mit.edu	37	6	7211049	7211071	+	Frame_Shift_Del	DEL	CCATGAGAAGGACCCTAACAGTG	CCATGAGAAGGACCCTAACAGTG	-	rs145494137		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:7211049_7211071delCCATGAGAAGGACCCTAACAGTG	ENST00000379938.2	+	7	975_997	c.438_460delCCATGAGAAGGACCCTAACAGTG	c.(436-462)atccfs	p.IHEKDPNSA146fs	RREB1_ENST00000349384.6_Frame_Shift_Del_p.IHEKDPNSA146fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.IHEKDPNSA146fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.IHEKDPNSA146fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	146					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATATGAAGATCCATGAGAAGGACCCTAACAGTGCCACAGCCAC	0.439													12	87	---	---	---	---					
HIST1H1B	3009	broad.mit.edu	37	6	27835121	27835121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:27835121delC	ENST00000331442.3	-	1	238	c.187delG	c.(187-189)cafs	p.A64fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	64	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTAAGGGCTGCCAAAGAAAGG	0.607													14	166	---	---	---	---					
RP1L1	94137	broad.mit.edu	37	8	10467489	10467503	+	In_Frame_Del	DEL	CTGCACCCCCTCTTC	CTGCACCCCCTCTTC	-	rs116242305	by1000genomes	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:10467489_10467503delCTGCACCCCCTCTTC	ENST00000382483.3	-	4	4328_4342	c.4105_4119delGAAGAGGGGGTGCAG	c.(4105-4119)del	p.EEGVQ1369del		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1369					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCct	0.498													10	201	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	144992466	144992479	+	Frame_Shift_Del	DEL	GCTGGGCTCTGACA	GCTGGGCTCTGACA	-			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:144992466_144992479delGCTGGGCTCTGACA	ENST00000322810.4	-	32	12090_12103	c.11921_11934delTGTCAGAGCCCAGC	c.(11920-11934)cfs	p.LSEPS3974fs	PLEC_ENST00000356346.3_Frame_Shift_Del_p.LSEPS3823fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.LSEPS3841fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.LSEPS3860fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.LSEPS3805fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.LSEPS3837fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.LSEPS3837fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.LSEPS3864fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.LSEPS3815fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3974	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGCACCTCGCTGGGCTCTGACAGCTGGTCGTG	0.692													9	26	---	---	---	---					
LRRC19	64922	broad.mit.edu	37	9	26999638	26999640	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:26999638_26999640delATA	ENST00000380055.5	-	2	163_165	c.53_55delTAT	c.(52-57)tca>t	p.LS18del	IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000443698.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	18						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		ATTTTGTCTGATAATAATATCAT	0.291													14	20	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88328028	88328029	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:88328028_88328029insG	ENST00000325089.6	+	2	604_605	c.385_386insG	c.(385-387)gggfs	p.G129fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	129						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCATGGGCTACGGGGTTTGAGG	0.450													71	108	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:29372348delT	ENST00000398878.3	+	0	1186				SNX29P2_ENST00000507381.1_RNA																							TGGGAGGttgttttttttttt	0.478													5	1	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577032	7577033	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:7577032_7577033delCC	ENST00000420246.2	-	8	1037_1038	c.905_906delGG	c.(904-906)gfs	p.G302fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.G302fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G302fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.G302fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G302fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	302	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in a sporadic cancer; somatic mutation).|G -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(3)|p.G302E(3)|p.G302G(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.G302fs*2(1)|p.S303fs*42(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTTAGTGCTCCCTGGGGGCAG	0.554		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			43	70	---	---	---	---					
AKAP1	8165	broad.mit.edu	37	17	55189196	55189197	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:55189196_55189197insT	ENST00000337714.3	+	4	2119_2120	c.1886_1887insT	c.(1885-1887)tgtfs	p.C629fs	AKAP1_ENST00000571629.1_Frame_Shift_Ins_p.C629fs|AKAP1_ENST00000572557.1_Frame_Shift_Ins_p.C629fs|AKAP1_ENST00000539273.1_Frame_Shift_Ins_p.C629fs	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	629	KH.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CAGGGGCGCTATGTGAGTTTTC	0.480													86	100	---	---	---	---					
NUMBL	9253	broad.mit.edu	37	19	41173905	41173907	+	In_Frame_Del	DEL	TGC	TGC	-	rs67712968		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:41173905_41173907delTGC	ENST00000252891.4	-	10	1463_1465	c.1296_1298delGCA	c.(1294-1299)caa>ca	p.QQ444del	NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ403del|NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ403del	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	444	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgttgctgttgctgctgctgct	0.660													3	5	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45762300	45762300	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:45762300delC	ENST00000300843.4	+	2	402	c.105delC	c.(103-105)agfs	p.S35fs	MARK4_ENST00000262891.4_Frame_Shift_Del_p.S35fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	35					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTGGTCCAGCCGCTCACTGG	0.662													16	28	---	---	---	---					
ACSS2	55902	broad.mit.edu	37	20	33502206	33502206	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:33502206delC	ENST00000360596.2	+	7	1011	c.800delC	c.(799-801)tcfs	p.S267fs	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Frame_Shift_Del_p.S217fs|ACSS2_ENST00000253382.5_Frame_Shift_Del_p.S267fs	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	267					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCAGCCAGTCCCCCCCAATT	0.537													20	64	---	---	---	---					
