Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FIGLA	344018	broad.mit.edu	37	2	71012684	71012684	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr2:71012684G>A	uc002she.1	-	2	477	c.472C>T	c.(472-474)Caa>Taa	p.Q158*		NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN	Homo sapiens folliculogenesis specific basic helix-loop-helix (FIGLA), mRNA.	158					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding			endometrium(2)|lung(3)	5						CTGATATGTTGGGTGATGTTT	0.488000														207			82		0	0	0.000147903	0	0
APOB	338	broad.mit.edu	37	2	21237341	21237342	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr2:21237341_21237342GG>TT	uc002red.3	-	23	3948_3949	c.3820_3821CC>AA	c.(3820-3822)cca>AAa	p.P1274K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1274					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGGTTTTCTGGGATGTGGAAG	0.411000														398			13		0	0	6.4e-05	0	0
LRRC14B	389257	broad.mit.edu	37	5	191738	191738	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr5:191738G>A	uc003jal.1	+	0	113	c.85G>A	c.(85-87)Gtg>Atg	p.V29M		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	29										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCTGGACAGCGTGGCCCACAA	0.652000														44			6		0	0	8.12818e-05	0	0
ADD1	118	broad.mit.edu	37	4	2929961	2929962	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr4:2929961_2929962CC>AA	uc003gfq.3	+	14	2206_2207	c.2018_2019CC>AA	c.(2017-2019)ccc>cAA	p.P673Q	ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_Missense_Mutation_p.P642Q|ADD1_uc003gfs.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	642					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAACTCTCCCCGATCTGTCCC	0.559000														893			14		0	0	6.4e-05	0	0
TBC1D15	64786	broad.mit.edu	37	12	72307690	72307690	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr12:72307690C>T	uc001swu.3	+	12	1511	c.1436C>T	c.(1435-1437)tCt>tTt	p.S479F	TBC1D15_uc001sww.3_Missense_Mutation_p.S233F|TBC1D15_uc010stt.2_Missense_Mutation_p.S470F|TBC1D15_uc001swv.3_Missense_Mutation_p.S462F	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	479	Rab-GAP TBC.						Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCTTTGCCTCTTACATGGAC	0.294000														437			454		0	0	0.000147903	0	0
FAM105A	54491	broad.mit.edu	37	5	14602345	14602345	+	Silent	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr5:14602345G>A	uc003jfj.3	+	4	515	c.402G>A	c.(400-402)agG>agA	p.R134R		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	134										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GACAAGTAAGGAGAGATAACT	0.358000														179			21		0	0	0.000132079	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671704	39671704	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr21:39671704G>A	uc021wjc.1	+	0	521	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	KCNJ15_uc002ywv.3_Missense_Mutation_p.R174Q|KCNJ15_uc002yww.3_Missense_Mutation_p.R174Q|KCNJ15_uc002ywx.3_Missense_Mutation_p.R174Q	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	174					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	p.R174R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCCAAAAAGCGGGCTGAGACC	0.507000														3			48		0	0	0.000106405	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35913788	35913788	+	Silent	SNP	C	T	T	rs147017356		TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:35913788C>T	uc001byx.3	-	15	2757	c.2499G>A	c.(2497-2499)ccG>ccA	p.P833P	KIAA0319L_uc001byw.3_Silent_p.P275P|KIAA0319L_uc010ohv.1_Silent_p.P475P	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	833						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTCCGTGTACGGCTGAATCT	0.542000														91			25		0	0	9.22233e-05	0	0
ZNF341	84905	broad.mit.edu	37	20	32341106	32341106	+	Silent	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr20:32341106C>T	uc002wzy.3	+	4	638	c.618C>T	c.(616-618)ccC>ccT	p.P206P	ZNF341_uc002wzx.3_Silent_p.P206P|ZNF341_uc010geq.3_Silent_p.P116P|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCCTGGGCCCCCCTGGGCGTC	0.692000														7			11		0	0	3.86212e-05	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87370861	87370861	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr7:87370861A>C	uc003ujb.3	+	6	1057	c.646A>C	c.(646-648)Ata>Cta	p.I216L	RUNDC3B_uc011khd.1_Missense_Mutation_p.I199L|RUNDC3B_uc011khe.2_Missense_Mutation_p.I199L|RUNDC3B_uc003ujc.3_Missense_Mutation_p.I199L|RUNDC3B_uc003ujd.3_Missense_Mutation_p.I121L	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	216										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCCTGCTGTAATAGACTATAC	0.279000														18			19		0	0	5.49717e-05	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150293	70150294	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr12:70150293_70150294GG>TT	uc001svp.3	+	2	855_856	c.408_409GG>TT	c.(406-411)cagggt>caTTgt	p.136_137QG>HC	RAB3IP_uc021rao.1_Missense_Mutation_p.120_121QG>HC|RAB3IP_uc001svm.3_Missense_Mutation_p.120_121QG>HC|RAB3IP_uc001svn.3_Missense_Mutation_p.120_121QG>HC|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.136_137QG>HC|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	136					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGTTTTTACAGGGTGCTACTAT	0.426000														924			14		0	0	6.4e-05	0	0
CTR9	9646	broad.mit.edu	37	11	10791757	10791757	+	Splice_Site	SNP	T	G	G			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr11:10791757T>G	uc001mja.3	+	17	2259	c.2110_splice	c.e17-1	p.Y704_splice		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	704					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTTACTGTAGTATGAAAACTG	0.348000														16			16		0	0	5.01169e-05	0	0
SON	6651	broad.mit.edu	37	21	34924690	34924690	+	Silent	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr21:34924690C>T	uc002yse.1	+	2	3202	c.3153C>T	c.(3151-3153)tcC>tcT	p.S1051S	SON_uc002ysb.1_Silent_p.S1051S|SON_uc002ysc.3_Silent_p.S1051S|SON_uc002ysd.3_Silent_p.S42S|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.S697S|SON_uc002ysg.3_Silent_p.S42S	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1051	14 X 6 AA repeats of [ED]-R-S-M-M-S.				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTATGATGTCCCCTATGGCTG	0.498000														104			6		0	0	3.59834e-05	0	0
PLP1	5354	broad.mit.edu	37	X	103044323	103044323	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chrX:103044323C>T	uc010nov.3	+	6	1038	c.758C>T	c.(757-759)tCc>tTc	p.S253F	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.S253F|PLP1_uc004elj.3_Missense_Mutation_p.S218F|PLP1_uc011msf.2_Missense_Mutation_p.S198F|PLP1_uc010nox.3_Missense_Mutation_p.S207F	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	253			S -> F (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						ACACTGGTTTCCCTGGTGAGT	0.453000														4			59		0	0	0.000147903	0	0
CLCNKA	1187	broad.mit.edu	37	1	16382952	16382953	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:16382952_16382953CC>AA	uc001axx.4	+	18	2101_2102	c.1965_1966CC>AA	c.(1963-1968)tccctc>tcAAtc	p.L656I	CLCNKA_uc021ogm.1_Missense_Mutation_p.L487I|CLCNKA_uc001axy.4_Missense_Mutation_p.L486I	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	656	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACCTTCATTCCCTCTTTGTGAC	0.599000											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		323			9		0	0	6.4e-05	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658390	33658390	+	Silent	SNP	C	G	G			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr5:33658390C>G	uc003jia.1	-	6	1252	c.1089G>C	c.(1087-1089)ctG>ctC	p.L363L	ADAMTS12_uc010iuq.1_Silent_p.L363L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	363	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G362G(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAAGGTGAGACAGGCCCAGGG	0.502000										HNSCC(64;0.19)				146			53		0	0	0.000147903	0	0
PTPRJ	5795	broad.mit.edu	37	11	48145321	48145321	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr11:48145321A>G	uc001ngp.4	+	4	1128	c.773A>G	c.(772-774)aAt>aGt	p.N258S	PTPRJ_uc001ngo.4_Missense_Mutation_p.N258S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	258	Fibronectin type-III 2.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTTCAGGTCAATATCTCGGGC	0.502000														32			26		0	0	9.22233e-05	0	0
CSMD1	64478	broad.mit.edu	37	8	2815274	2815274	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr8:2815274G>A	uc022aqr.1	-	62	10148	c.9758C>T	c.(9757-9759)aCg>aTg	p.T3253M	CSMD1_uc011kwj.2_Missense_Mutation_p.T2583M|CSMD1_uc010lrg.3_Missense_Mutation_p.T1145M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3254	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTGCGAGTCGTGGAACCTTG	0.443000														4			5		0	0	3.59834e-05	0	0
NBPF7	343505	broad.mit.edu	37	1	120378786	120378787	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:120378786_120378787CG>AT	uc010oxk.2	-	6	1580_1581	c.959_960CG>AT	c.(958-960)ccg>cAT	p.P320H		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	320	NBPF 2.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CCCTTTCCTCCGGGGAGTCCTG	0.480000														512			9		0	0	6.4e-05	0	0
CACNA1S	779	broad.mit.edu	37	1	201047108	201047108	+	Silent	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:201047108G>A	uc001gvv.3	-	10	1745	c.1518C>T	c.(1516-1518)agC>agT	p.S506S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	506					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.S506I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGGATACCGCTACACACCA	0.577000														29			16		0	0	3.45872e-05	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525708	176525708	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:176525708G>A	uc001gkz.3	+	1	1414	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	PAPPA2_uc001gky.1_Missense_Mutation_p.V84M|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	84					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P83P(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCCTACCCCGTGGGGGAGCA	0.562000														58			58		0	0	0.000147903	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971110	21971110	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr9:21971110T>C	uc003zpk.3	-	1	554	c.248A>G	c.(247-249)cAc>cGc	p.H83R	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.H83R|CDKN2A_uc003zpl.3_Silent_p.A97A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(34)|p.H83P(4)|p.H83fs*2(4)|p.V82_G89>G(2)|p.V82fs*62(2)|p.P81_A85del(2)|p.V82_E88del(2)|p.H83R(2)|p.V82M(2)|p.E61_L94del(2)|p.R80fs*34(1)|p.H83N(1)|p.A68fs*3(1)|p.H83Q(1)|p.V82fs*44(1)|p.V82V(1)|p.0(1)|p.V82fs*64(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.V82L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCAGCGTCGTGCACGGGTCG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				7			64		0	0	0.000147903	0	0
SLC44A4	80736	broad.mit.edu	37	6	31832501	31832502	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr6:31832501_31832502CC>AA	uc010jti.3	-	19	2004_2005	c.1938_1939GG>TT	c.(1936-1941)ctgggg>ctTTgg	p.G647W	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Missense_Mutation_p.G571W|SLC44A4_uc011dom.2_Missense_Mutation_p.G605W	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	647						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ACATAGGCCCCCAGGATGGAGG	0.604000														375			10		0	0	6.4e-05	0	0
WHSC1	7468	broad.mit.edu	37	4	1902634	1902635	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr4:1902634_1902635CG>AT	uc003gdz.4	+	1	429_430	c.253_254CG>AT	c.(253-255)cgg>ATg	p.R85M	WHSC1_uc003geb.4_Missense_Mutation_p.R85M|WHSC1_uc003gec.4_Missense_Mutation_p.R85M|WHSC1_uc003ged.4_Missense_Mutation_p.R85M|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Missense_Mutation_p.R85M|WHSC1_uc003gdy.1_Missense_Mutation_p.R85M|WHSC1_uc010icd.1_Missense_Mutation_p.R85M|WHSC1_uc003gea.1_Missense_Mutation_p.R85M|WHSC1_uc010ice.1_Missense_Mutation_p.R85M|WHSC1_uc003geg.1_Missense_Mutation_p.R85M|WHSC1_uc003geh.1_Missense_Mutation_p.R85M	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	85					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCTTACTTCCCGGGTGTTTAAT	0.540000			T	IGH@	MM									775			21		0	0	6.4e-05	0	0
MIA3	375056	broad.mit.edu	37	1	222803530	222803530	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:222803530G>A	uc001hnl.3	+	3	2977	c.2968G>A	c.(2968-2970)Gca>Aca	p.A990T	MIA3_uc009xea.1_Missense_Mutation_p.A826T	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	990					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCTGAGCATAGCAGAAAAAAT	0.413000														387			9		0	0	0.000151284	0	0
TBC1D15	64786	broad.mit.edu	37	12	72307701	72307701	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr12:72307701C>T	uc001swu.3	+	12	1522	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	TBC1D15_uc001sww.3_Nonsense_Mutation_p.Q237*|TBC1D15_uc010stt.2_Nonsense_Mutation_p.Q474*|TBC1D15_uc001swv.3_Nonsense_Mutation_p.Q466*	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	483	Rab-GAP TBC.						Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTACATGGACCAAATGGTAAG	0.308000														438			457		0	0	0.000147903	0	0
CNNM1	26507	broad.mit.edu	37	10	101090132	101090132	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr10:101090132G>A	uc010qpi.2	+	0	1277	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	CNNM1_uc009xwe.3_Missense_Mutation_p.V330M|CNNM1_uc001kpp.4_Missense_Mutation_p.V330M|CNNM1_uc009xwf.3_Missense_Mutation_p.V330M	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	330	DUF21.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GCCGGCGCTCGTGTGCACCGG	0.697000														2			4		0	0	0.00024832	0	0
FZD4	8322	broad.mit.edu	37	11	86662335	86662335	+	Missense_Mutation	SNP	C	T	T	rs80358298		TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr11:86662335C>T	uc001pce.3	-	1	1776	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	488			G -> D (in EVR1).		Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGAAGTGATGCCCACCAACAA	0.403000														33			24		0	0	3.10358e-05	0	0
ISM2	145501	broad.mit.edu	37	14	77950804	77950804	+	Silent	SNP	A	C	C			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr14:77950804A>C	uc001xtz.3	-	2	563	c.489T>G	c.(487-489)acT>acG	p.T163T	ISM2_uc001xua.3_Silent_p.T163T|ISM2_uc001xty.3_Silent_p.T75T	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	163						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCAGTGACAGTCCAACATC	0.617000														28			25		0	0	0.000117367	0	0
SERAC1	84947	broad.mit.edu	37	6	158541470	158541471	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr6:158541470_158541471GG>TT	uc003qrc.2	-	10	1294_1295	c.1152_1153CC>AA	c.(1150-1155)ccccaa>ccAAaa	p.Q385K	SERAC1_uc003qrb.2_Missense_Mutation_p.Q113K	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	385					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTTCGATATTGGGGATGCAGCA	0.436000														110			5		0	0	6.4e-05	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														37			4		0	0	1.23904e-05	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47614759	47614759	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr20:47614759G>A	uc002xtx.4	+	23	3403	c.3251G>A	c.(3250-3252)gGa>gAa	p.G1084E	ARFGEF2_uc010zyf.2_Missense_Mutation_p.G377E	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1084					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGACTGGATGGAAATGCAATA	0.448000														18			16		0	0	0.000132079	0	0
GRHL3	57822	broad.mit.edu	37	1	24663066	24663067	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:24663066_24663067CC>AA	uc021oiw.1	+	3	591_592	c.361_362CC>AA	c.(361-363)cca>AAa	p.P121K	GRHL3_uc001bix.3_Missense_Mutation_p.P121K|GRHL3_uc021oix.1_Missense_Mutation_p.P75K|GRHL3_uc001biy.3_Missense_Mutation_p.P126K|GRHL3_uc001biz.3_Missense_Mutation_p.P28K	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	121					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTCTGGAACCCCAGAGTACCCA	0.569000														900			14		0	0	6.4e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92085293	92085294	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr11:92085293_92085294GG>TT	uc001pdj.4	+	0	32_33	c.15_16GG>TT	c.(13-18)atggga>atTTga	p.5_6MG>I*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	5					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATATAATTATGGGACACTGTGT	0.500000										TCGA Ovarian(4;0.039)				476			9		0	0	6.4e-05	0	0
GPR116	221395	broad.mit.edu	37	6	46847621	46847621	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr6:46847621C>T	uc003oyo.3	-	8	1259	c.970G>A	c.(970-972)Gca>Aca	p.A324T	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.A324T|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Missense_Mutation_p.A324T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	324	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A324T(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGAAAAGTGCGGTGTAAATC	0.463000														63			32		0	0	8.91981e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95902775	95902776	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr8:95902775_95902776CC>AA	uc003yhc.3	-	5	424_425	c.320_321GG>TT	c.(319-321)tgg>tTT	p.W107F	CCNE2_uc003yhd.2_Missense_Mutation_p.W107F	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	107					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTGAACATCCCCAGCTATGGAA	0.356000														266			9		0	0	6.4e-05	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756737	+	Missense_Mutation	DNP	TT	CC	CC			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr2:54756736_54756737TT>CC	uc010yot.1	+	0	378_379	c.254_255TT>CC	c.(253-255)ttt>tCC	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAGA	0.480000														36			4		0	0	6.4e-05	0	0
FBXO39	162517	broad.mit.edu	37	17	6683324	6683324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr17:6683324G>A	uc010vtg.2	+	1	257	c.137G>A	c.(136-138)tGg>tAg	p.W46*		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	46	F-box.									NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGCAGAAAGTGGAACCAGATG	0.542000														18			18		0	0	7.07596e-05	0	0
CSMD2	114784	broad.mit.edu	37	1	34033216	34033216	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:34033216G>A	uc001bxm.1	-	52	8534	c.8357C>T	c.(8356-8358)tCg>tTg	p.S2786L	CSMD2_uc001bxn.1_Missense_Mutation_p.S2763L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2763	Sushi 19.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTCTTGCCCGACCAGTGATG	0.522000														2			46		0	0	0.000147903	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr20:29628263A>G	uc010ztl.1	+	2	207	c.175A>G	c.(175-177)Att>Gtt	p.I59V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000														101			26		0	0	5.1965e-05	0	0
ZNF398	57541	broad.mit.edu	37	7	148876793	148876793	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr7:148876793C>T	uc011kum.2	+	6	1985	c.1844C>T	c.(1843-1845)cCc>cTc	p.P615L	ZNF398_uc011kul.2_Missense_Mutation_p.P439L|ZNF398_uc003wfl.3_Missense_Mutation_p.P610L	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	610					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCACCAGGTCCCCTCATAACT	0.557000														29			9		0	0	1.12685e-05	0	0
SPTA1	6708	broad.mit.edu	37	1	158606503	158606503	+	Silent	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:158606503C>T	uc001fst.1	-	36	5437	c.5238G>A	c.(5236-5238)caG>caA	p.Q1746Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1746					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGAACCCCCTGAAGATCTC	0.468000														129			25		0	0	7.16444e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92088126	92088127	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr11:92088126_92088127CC>AA	uc001pdj.4	+	0	2865_2866	c.2848_2849CC>AA	c.(2848-2850)cct>AAt	p.P950N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	950	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAGATCTCCCTGTTGGCACT	0.436000										TCGA Ovarian(4;0.039)				659			12		0	0	6.4e-05	0	0
SLC5A11	115584	broad.mit.edu	37	16	24922761	24922762	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr16:24922761_24922762CC>AA	uc002dmu.3	+	15	2166_2167	c.1935_1936CC>AA	c.(1933-1938)tccctg>tcAAtg	p.L646M	SLC5A11_uc002dms.3_Missense_Mutation_p.L582M|SLC5A11_uc010vcd.2_Missense_Mutation_p.L611M|SLC5A11_uc002dmt.3_Missense_Mutation_p.L490M|SLC5A11_uc010vce.2_Missense_Mutation_p.L576M|SLC5A11_uc010bxt.3_Missense_Mutation_p.L582M|SLC5A11_uc002dmv.3_Missense_Mutation_p.L269M	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	646					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.L646M(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TCATAGTTTCCCTGGAAGAAAA	0.530000														187			7		0	0	6.4e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	203972604	203972604	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr2:203972604G>T	uc002uzt.3	+	12	1888	c.1555G>T	c.(1555-1557)Ggg>Tgg	p.G519W		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	519							binding	p.R519S(1)|p.R519H(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGTTCCTTGGGGAGTCAGTC	0.463000														426			10		6.40141e-05	0.00311095	6.40141e-05	1	0
SSTR1	6751	broad.mit.edu	37	14	38679353	38679353	+	Silent	SNP	G	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr14:38679353G>T	uc021rsi.1	+	0	759	c.759G>T	c.(757-759)gtG>gtT	p.V253V	SSTR1_uc001wul.1_Silent_p.V253V	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	253					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGCGCATGGTGGCCCTCAAGG	0.567000														29			20		3.99206e-14	2.07541e-12	9.7654e-05	1	0
PCSK9	255738	broad.mit.edu	37	1	55505557	55505557	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:55505557T>C	uc001cyf.2	+	0	409	c.47T>C	c.(46-48)cTg>cCg	p.L16P	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	16					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ctgccactgctgctgctgctg	0.706000														43			49		0	0	0.000147903	0	0
CXorf66	347487	broad.mit.edu	37	X	139038753	139038753	+	Missense_Mutation	SNP	C	T	T	rs139549978		TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chrX:139038753C>T	uc004fbb.3	-	2	410	c.388G>A	c.(388-390)Gca>Aca	p.A130T		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	130	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CTGGATTGTGCGGATGCCCTT	0.448000														65			57		0	0	0.000147903	0	0
FGFR3	2261	broad.mit.edu	37	4	1803642	1803642	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr4:1803642C>T	uc003gdr.3	+	6	1076	c.820C>T	c.(820-822)Cac>Tac	p.H274Y	FGFR3_uc003gdu.2_Missense_Mutation_p.H274Y|FGFR3_uc003gds.3_Missense_Mutation_p.H274Y|FGFR3_uc003gdq.3_Missense_Mutation_p.H274Y|FGFR3_uc010icb.1_Missense_Mutation_p.H116Y|FGFR3_uc003gdt.1_Missense_Mutation_p.H116Y	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	274	Ig-like C2-type 3.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.F273C(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CGTGGAGTTCCACTGCAAGGT	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					173			143		0	0	0.000147903	0	0
PITHD1	57095	broad.mit.edu	37	1	24106393	24106394	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:24106393_24106394GG>TT	uc001bhq.3	+	2	412_413	c.282_283GG>TT	c.(280-285)atggga>atTTga	p.94_95MG>I*	LOC100506963_uc001bhp.2_5'Flank|PITHD1_uc010oeb.2_Nonsense_Mutation_p.1_2MG>I*	NM_020362	NP_065095	Q9GZP4	PITH1_HUMAN	Homo sapiens PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1 (PITHD1), mRNA.	94	PITH.									haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						TCATTATAATGGGAGAGGATGA	0.426000														679			13		0	0	6.4e-05	0	0
CAMK2B	816	broad.mit.edu	37	7	44266164	44266164	+	Silent	SNP	C	G	G			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr7:44266164C>G	uc003tkq.2	-	19	1758	c.1548G>C	c.(1546-1548)ggG>ggC	p.G516G	CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_Silent_p.G149G	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	516					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGGCGGGGGCCCCACTGGCG	0.697000														8			3		0	0	0.00024832	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447568	24447569	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:24447568_24447569CC>AA	uc001biq.2	-	6	1654_1655	c.1451_1452GG>TT	c.(1450-1452)ggg>gTT	p.G484V	IL22RA1_uc010oeg.1_Missense_Mutation_p.G416V|IL22RA1_uc009vrb.2_Missense_Mutation_p.G348V|IL22RA1_uc010oeh.2_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	484						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCCCTTCCTCCCCACTGTGTAG	0.564000														721			11		0	0	6.4e-05	0	0
SASH1	23328	broad.mit.edu	37	6	148865579	148865579	+	Silent	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr6:148865579G>A	uc003qme.1	+	17	3448	c.2973G>A	c.(2971-2973)aaG>aaA	p.K991K	SASH1_uc011eeb.1_Silent_p.K752K|SASH1_uc003qmf.1_Silent_p.K401K	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	991	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTGCCAAAAAGAGCAGAGAAC	0.587000														45			40		0	0	0.000125731	0	0
PASK	23178	broad.mit.edu	37	2	242063523	242063523	+	Silent	SNP	C	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr2:242063523C>A	uc002wao.2	-	10	2878	c.2745G>T	c.(2743-2745)gtG>gtT	p.V915V	PASK_uc010zol.2_Silent_p.V729V|PASK_uc010zom.2_Silent_p.V880V|PASK_uc010fzl.2_Silent_p.V915V|PASK_uc010zon.2_Silent_p.V696V|PASK_uc021vzf.1_Silent_p.V915V|PASK_uc002wap.3_Silent_p.V458V|PASK_uc002waq.3_Silent_p.V915V	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	915					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCTGGAGCTCCACCCGCCTCA	0.587000														7			4		3.59834e-05	0.00176793	3.59834e-05	1	0
PTPRJ	5795	broad.mit.edu	37	11	48177618	48177618	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr11:48177618G>T	uc001ngp.4	+	20	3740	c.3385G>T	c.(3385-3387)Gag>Tag	p.E1129*		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	1129	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATGGTTTGGGAGAAAAATGT	0.328000														64			46		6.31075e-24	3.31946e-22	0.000147903	1	0
ZNF589	51385	broad.mit.edu	37	3	48309500	48309500	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr3:48309500A>G	uc003csl.4	+	3	385	c.319A>G	c.(319-321)Att>Gtt	p.I107V	ZNF589_uc010hjt.2_Missense_Mutation_p.I104V|ZNF589_uc003csn.3_Non-coding_Transcript|ZNF589_uc011bbg.2_Missense_Mutation_p.I106V|ZNF589_uc003csm.3_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	Homo sapiens zinc finger protein 589 (ZNF589), mRNA.	107	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAATCATCCTATTCCAGGTTT	0.507000														36			15		0	0	3.45872e-05	0	0
EPHB1	2047	broad.mit.edu	37	3	134880946	134880946	+	Silent	SNP	G	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr3:134880946G>T	uc003eqt.3	+	6	1884	c.1509G>T	c.(1507-1509)gtG>gtT	p.V503V	EPHB1_uc003equ.3_Silent_p.V64V	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	503	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGTATATGTGGTACAGGTGC	0.552000														12			40		1.03484e-13	5.31811e-12	0.000191422	1	0
SRRM1	10250	broad.mit.edu	37	1	24981531	24981532	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:24981531_24981532CC>AA	uc001bjm.3	+	8	1450_1451	c.1226_1227CC>AA	c.(1225-1227)ccc>cAA	p.P409Q	SRRM1_uc010oel.2_Missense_Mutation_p.P409Q|SRRM1_uc009vrh.1_Missense_Mutation_p.P370Q|SRRM1_uc009vri.1_Missense_Mutation_p.P326Q|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	409	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACTCCACCACCCAAAACTCGGC	0.510000														541			12		0	0	6.4e-05	0	0
C1orf201	90529	broad.mit.edu	37	1	24685042	24685043	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:24685042_24685043CG>AT	uc001bjc.3	-	8	1162_1163	c.995_996CG>AT	c.(994-996)ccg>cAT	p.P332H	GRHL3_uc021oiw.1_Intron|C1orf201_uc010oej.2_Missense_Mutation_p.G119C|C1orf201_uc001bjb.3_Missense_Mutation_p.P240H|C1orf201_uc001bja.3_Missense_Mutation_p.P285H|C1orf201_uc001bjd.3_Missense_Mutation_p.P332H	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	332				P -> R (in Ref. 2; AAH35061).				p.P285P(1)|p.P332P(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		CCTACAGAACCGGGATCCATTT	0.564000														486			8		0	0	6.4e-05	0	0
TMEM57	55219	broad.mit.edu	37	1	25812258	25812259	+	Missense_Mutation	DNP	CG	AT	AT	rs142677711		TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:25812258_25812259CG>AT	uc001bkk.3	+	7	1670_1671	c.1468_1469CG>AT	c.(1468-1470)cgg>ATg	p.R490M	TMEM57_uc009vru.3_Missense_Mutation_p.R263M|TMEM57_uc009vrv.3_Missense_Mutation_p.R132M	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	490						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.R490Q(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CACTGCTGCCCGGGCTGTTGCG	0.450000														847			19		0	0	6.4e-05	0	0
OR4C13	283092	broad.mit.edu	37	11	49974394	49974394	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr11:49974394C>A	uc010rhz.2	+	0	452	c.420C>A	c.(418-420)agC>agA	p.S140R		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S140S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTTTGTAGCCTGCTAGTGG	0.468000														43			28		3.1745e-13	1.61286e-11	0.000227799	1	0
PRKCH	5583	broad.mit.edu	37	14	61788891	61788891	+	Silent	SNP	C	G	G			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr14:61788891C>G	uc001xfn.3	+	0	377	c.72C>G	c.(70-72)ccC>ccG	p.P24P	PRKCH_uc010tsa.2_Intron|BC050301_uc001xfm.3_Intron	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	24	C2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGCTGCAGCCCACCCGCTGGT	0.682000														7			3		0	0	6.4e-05	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859894	144859894	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:144859894C>T	uc021ouh.1	-	37	6492	c.6190G>A	c.(6190-6192)Ggg>Agg	p.G2064R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.G2064R|PDE4DIP_uc001elx.4_Missense_Mutation_p.G1958R|PDE4DIP_uc001elv.4_Missense_Mutation_p.G1071R	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2064					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAATTGTTCCCCTGAATGCTC	0.592000			T	PDGFRB	MPD									71			19		0	0	0.000132079	0	0
CIITA	4261	broad.mit.edu	37	16	11009480	11009480	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr16:11009480C>T	uc002daj.4	+	13	3078	c.2945C>T	c.(2944-2946)aCg>aTg	p.T982M	CIITA_uc002dai.4_Missense_Mutation_p.T981M|CIITA_uc002dak.4_Missense_Mutation_p.T397M	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	981			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	ATP binding|activating transcription factor 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						CGGATCCTCACGGCCTTTTCC	0.582000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									31			19		0	0	0.000229342	0	0
TTC12	54970	broad.mit.edu	37	11	113196260	113196260	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr11:113196260G>C	uc001pnv.3	+	5	442	c.337G>C	c.(337-339)Ggg>Cgg	p.G113R	TTC12_uc001pnu.3_Missense_Mutation_p.G113R|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_5'UTR	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	113							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AAAAGAAAAAGGGAATGAAGC	0.428000														25			17		0	0	9.7654e-05	0	0
DNMBP	23268	broad.mit.edu	37	10	101716647	101716647	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr10:101716647G>A	uc001kqj.2	-	3	676	c.584C>T	c.(583-585)cCa>cTa	p.P195L	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	195	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAAACCTTCTGGAAAAATGCC	0.483000														42			24		0	0	9.22233e-05	0	0
HNRNPR	10236	broad.mit.edu	37	1	23650117	23650118	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:23650117_23650118CG>AT	uc001bgr.4	-	5	765_766	c.606_607CG>AT	c.(604-609)tccggt>tcATgt	p.G203C	HNRNPR_uc010odw.2_Missense_Mutation_p.G165C|HNRNPR_uc009vql.3_Missense_Mutation_p.G64C|HNRNPR_uc001bgp.4_Missense_Mutation_p.G203C|HNRNPR_uc001bgs.4_Missense_Mutation_p.G102C|HNRNPR_uc009vqk.3_Missense_Mutation_p.G102C|HNRNPR_uc010odx.2_Intron	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	203	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	p.S202fs*7(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTATTCTGACCGGACAGTGGAT	0.450000														878			11		0	0	6.4e-05	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281586	145281587	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:145281586_145281587GG>TT	uc001emn.4	+	3	886_887	c.516_517GG>TT	c.(514-519)cagggc>caTTgc	p.172_173QG>HC	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.172_173QG>HC|NOTCH2NL_uc001emo.2_Missense_Mutation_p.172_173QG>HC|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	172	EGF-like 5; calcium-binding (Potential).				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.G173V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AGTGCCTTCAGGGCTTCACAGG	0.559000														902			14		0	0	6.4e-05	0	0
LETM1	3954	broad.mit.edu	37	4	1823927	1823928	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr4:1823927_1823928GG>TT	uc003gdv.3	-	9	1885_1886	c.1588_1589CC>AA	c.(1588-1590)ccg>AAg	p.P530K		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	530					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTCCAGCACCGGGGCAGTGTCC	0.634000														717			9		0	0	6.4e-05	0	0
CD163L1	283316	broad.mit.edu	37	12	7531757	7531757	+	Missense_Mutation	SNP	G	T	T	rs147841364		TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr12:7531757G>T	uc010sge.2	-	8	2244	c.2218C>A	c.(2218-2220)Caa>Aaa	p.Q740K	CD163L1_uc001qsy.3_Missense_Mutation_p.Q730K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	730	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATTCAAGTTGCCTGCAAACA	0.488000														47			23		3.01185e-09	1.51303e-07	7.16444e-05	1	0
RHD	6007	broad.mit.edu	37	1	25633086	25633087	+	Splice_Site	DNP	GG	TT	TT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:25633086_25633087GG>TT	uc009vro.3	+	7	998	c.940_splice	c.e7-1	p.G314_splice	C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Splice_Site_p.G314_splice|RHD_uc001bjz.3_Splice_Site_p.G314_splice|RHD_uc001bkc.3_Intron|RHD_uc009vrm.3_Splice_Site_p.G146_splice|RHD_uc001bka.3_Splice_Site_p.G314_splice|RHD_uc001bkb.3_Splice_Site_p.G314_splice|RHD_uc009vrn.3_Intron|RHD_uc009vrp.3_Splice_Site_p.G314_splice|AX747205_uc001bkd.1_5'Flank			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	314				G -> V (in Ref. 4; AAB26081 and 7; AAB31911).		integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTTGTCCACAGGGGTGTTGTAA	0.530000														887			16		0	0	6.4e-05	0	0
CCR2	729230	broad.mit.edu	37	3	46399487	46399488	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr3:46399487_46399488GG>TT	uc003cpn.4	+	1	954_955	c.469_470GG>TT	c.(469-471)ggg>TTg	p.G157L	CCR2_uc003cpm.4_Missense_Mutation_p.G157L|CCR2_uc021wxa.1_Missense_Mutation_p.G157L	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	157					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGTCACCTTTGGGGTGGTGACA	0.441000														304			8		0	0	6.4e-05	0	0
CAPN5	726	broad.mit.edu	37	11	76834836	76834836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr11:76834836C>T	uc009yup.3	+	13	2148	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	CAPN5_uc001oxx.3_Nonsense_Mutation_p.R615*|CAPN5_uc009yuq.3_Nonsense_Mutation_p.R651*|CAPN5_uc001oxy.3_Nonsense_Mutation_p.R655*|CAPN5_uc001oya.3_Nonsense_Mutation_p.R177*	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	615					proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCTCCGGGACCGAAATAGCCG	0.622000														27			33		0	0	4.66903e-05	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778779	31778779	+	Missense_Mutation	SNP	C	T	T	rs142398035	byFrequency	TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr6:31778779C>T	uc003nxh.3	-	1	1154	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	HSPA1L_uc010jte.3_Missense_Mutation_p.R324Q|HSPA1L_uc021yuz.1_Missense_Mutation_p.R324Q	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	324					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTGGCATCCCGAAGCGCTTT	0.498000														253			247		0	0	0.000147903	0	0
VEZF1	7716	broad.mit.edu	37	17	56056541	56056542	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr17:56056541_56056542CC>AA	uc002ivf.1	-	4	1252_1253	c.1109_1110GG>TT	c.(1108-1110)tgg>tTT	p.W370F	VEZF1_uc010dcn.1_Missense_Mutation_p.W220F	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	370					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CAGCTTCTTCCCACAGTCTCAG	0.465000														386			9		0	0	6.4e-05	0	0
FRS2	10818	broad.mit.edu	37	12	69962850	69962851	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr12:69962850_69962851CC>AA	uc001suy.3	+	5	550_551	c.40_41CC>AA	c.(40-42)cca>AAa	p.P14K	FRS2_uc001suz.3_Missense_Mutation_p.P14K|FRS2_uc009zrj.3_Missense_Mutation_p.P14K|FRS2_uc009zrk.3_Missense_Mutation_p.P14K	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	14	IRS-type PTB.				G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGACACTGTCCCAGATAACCAT	0.356000														766			13		0	0	6.4e-05	0	0
LBX2	85474	broad.mit.edu	37	2	74729892	74729892	+	Missense_Mutation	SNP	G	A	A	rs149381878		TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr2:74729892G>A	uc002slw.3	-	0	552	c.95C>T	c.(94-96)tCc>tTc	p.S32F	LOC151534_uc002slx.2_Non-coding_Transcript	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	Homo sapiens ladybird homeobox 2 (LBX2), mRNA.	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGCGGGCCGGGAAGCAGCCAG	0.627000														37			20		0	0	0.000229342	0	0
IL28RA	163702	broad.mit.edu	37	1	24485583	24485584	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr1:24485583_24485584CC>AA	uc001bis.3	-	5	786_787	c.759_760GG>TT	c.(757-762)atgggg>atTTgg	p.253_254MG>IW	IL28RA_uc001bir.3_Missense_Mutation_p.253_254MG>IW|IL28RA_uc001bit.3_Intron|IL28RA_uc001biu.3_Missense_Mutation_p.169_170MG>IW	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	253					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		CAGGGGTTCCCCATGAGGGTCT	0.574000														635			12		0	0	6.4e-05	0	0
RAB3IP	117177	broad.mit.edu	37	12	70194035	70194036	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr12:70194035_70194036CC>AA	uc001svp.3	+	6	1430_1431	c.983_984CC>AA	c.(982-984)ccc>cAA	p.P328Q	RAB3IP_uc001svm.3_Missense_Mutation_p.P312Q|RAB3IP_uc001svn.3_Missense_Mutation_p.P312Q|RAB3IP_uc001svo.3_Intron|RAB3IP_uc001svq.3_Missense_Mutation_p.P328Q|RAB3IP_uc001svs.3_Intron|RAB3IP_uc001svt.3_Missense_Mutation_p.P106Q|Mir_548_uc021rap.1_5'Flank	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	328					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGGATGAGCCCACAATGGACA	0.327000														908			15		0	0	6.4e-05	0	0
PRKDC	5591	broad.mit.edu	37	8	48749816	48749816	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr8:48749816G>A	uc003xqi.3	-	57	7772	c.7715C>T	c.(7714-7716)cCa>cTa	p.P2572L	PRKDC_uc003xqj.3_Missense_Mutation_p.P2572L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2573	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATGGGGTTTGGATAATCTGG	0.388000								Non-homologous end-joining						12			13		0	0	7.07596e-05	0	0
LGR5	8549	broad.mit.edu	37	12	71976316	71976317	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr12:71976316_71976317CC>AA	uc001swl.3	+	16	1681_1682	c.1633_1634CC>AA	c.(1633-1635)cca>AAa	p.P545K	LGR5_uc001swm.3_Missense_Mutation_p.P521K|LGR5_uc021rar.1_Missense_Mutation_p.P473K|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	545						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTCACCTTCCCCAGGTGAGAAA	0.450000														930			22		0	0	6.4e-05	0	0
DLX6	1750	broad.mit.edu	37	7	96635389	96635391	+	In_Frame_Del	DEL	CAG	-	-	rs35478952		TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr7:96635389_96635391delCAG	uc022ahu.1	+	0	100_102	c.100_102delCAG	c.(100-102)cagdel	p.Q44del	DLX6-AS1_uc003uok.3_5'Flank|DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					gcagcagcaacagcagcagcagc	0.680													---	4	---	---	2	---					
YY1	7528	broad.mit.edu	37	14	100728792	100728792	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr14:100728792delA	uc001ygy.1	+	1	1311	c.831delA	c.(829-831)gcafs	p.A277fs		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	277	Involved in nuclear matrix association.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AACAACTGGCAGAATTTGCTA	0.398													---	57	---	---	47	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-D9-A1X3-01A-11D-A197-08	TCGA-D9-A1X3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453504ec-ec7a-481c-b5d5-e32c27caede6	2ac41d53-16d3-4125-9a1f-36e88e4567d7	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	223	---	---	11	---					
