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
FOXJ3	22887	broad.mit.edu	37	1	42693556	42693556	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:42693556G>A	uc001che.3	-	6	838	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	FOXJ3_uc001chf.3_Missense_Mutation_p.R176W|FOXJ3_uc001chh.2_Missense_Mutation_p.R176W|FOXJ3_uc001chg.3_Missense_Mutation_p.R176W	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	176					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTTACCCGTTCTACAGAT	0.393												
NSUN4	387338	broad.mit.edu	37	1	46810560	46810560	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:46810560C>T	uc001cpr.1	+	1	290	c.181C>T	c.(181-183)Cca>Tca	p.P61S	NSUN4_uc010omc.1_Missense_Mutation_p.P12S|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Missense_Mutation_p.P12S|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	61							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGATCTTTGGCCATCAATCCG	0.488												
COL11A1	1301	broad.mit.edu	37	1	103487313	103487313	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:103487313C>A	uc001dum.3	-	8	1612	c.1294G>T	c.(1294-1296)Ggt>Tgt	p.G432C	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.G420C|COL11A1_uc001dun.3_Missense_Mutation_p.G381C|COL11A1_uc009weh.3_Missense_Mutation_p.G304C	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	420	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCATATGCACCATGGCCATTT	0.343												
HSPA6	3310	broad.mit.edu	37	1	161495457	161495457	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:161495457G>A	uc001gaq.3	+	0	1422	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	337					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATGACGTCGTCCTGGTGGG	0.597												
CFHR2	3080	broad.mit.edu	37	1	196927110	196927110	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:196927110G>T	uc001gtq.1	+	3	597	c.520G>T	c.(520-522)Gtt>Ttt	p.V174F	CFHR2_uc001gtr.1_Missense_Mutation_p.V50F	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	174	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGGTTCATCAGTTGAGTACCA	0.403												
YME1L1	10730	broad.mit.edu	37	10	27415646	27415646	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:27415646G>A	uc001iti.3	-	9	1309	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	YME1L1_uc001itj.3_Missense_Mutation_p.L310F|YME1L1_uc010qdl.2_Missense_Mutation_p.L277F	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	367					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTACCTCCAAGAATAGTAAAT	0.274												
DRGX	644168	broad.mit.edu	37	10	50599244	50599244	+	Missense_Mutation	SNP	T	T	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:50599244T>G	uc010qgq.2	-	1	113	c.113A>C	c.(112-114)cAg>cCg	p.Q38P	DRGX_uc021pqd.1_Missense_Mutation_p.Q33P	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	38					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q38H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTTCCGGCGCTGTTTTCTACG	0.507												
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318												
MUC5B	727897	broad.mit.edu	37	11	1274084	1274084	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:1274084G>A	uc001lta.3	+	32	15150	c.15091G>A	c.(15091-15093)Gtg>Atg	p.V5031M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5031					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCAGGTGCGTGGGTGACAA	0.632												
MS4A1	931	broad.mit.edu	37	11	60231772	60231772	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:60231772C>T	uc009yna.3	+	3	618	c.291C>T	c.(289-291)tcC>tcT	p.S97S	MS4A1_uc009ymy.1_3'UTR|MS4A1_uc009ymz.3_Silent_p.S97S|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Silent_p.S97S|MS4A1_uc001npq.3_Silent_p.S97S	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	97					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATATTATTTCCGGATCACTCC	0.438												
PC	5091	broad.mit.edu	37	11	66637883	66637883	+	Missense_Mutation	SNP	A	A	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:66637883A>C	uc001ojn.1	-	6	842	c.793T>G	c.(793-795)Tgc>Ggc	p.C265G	PC_uc001ojo.1_Missense_Mutation_p.C265G|PC_uc001ojp.1_Missense_Mutation_p.C265G	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	265	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGGATGGAGCAGTCTCGCTCG	0.602												
IQSEC3	440073	broad.mit.edu	37	12	247990	247990	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:247990C>T	uc001qhw.2	+	3	1461	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	IQSEC3_uc001qhu.1_Silent_p.D184D|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	487					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.N487K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTTTCCGGGACGTCACGGTGC	0.731												
APOBEC1	339	broad.mit.edu	37	12	7805403	7805403	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:7805403C>T	uc001qtb.3	-	2	107	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	25					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCATAGAAGACGTCAAACTCC	0.483												
PKP2	5318	broad.mit.edu	37	12	33031888	33031888	+	Missense_Mutation	SNP	C	C	T	rs149542398	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:33031888C>T	uc001rlj.4	-	1	417	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_uc001rlk.4_Missense_Mutation_p.R101H|PKP2_uc010skj.2_Missense_Mutation_p.R101H	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378												
PDZRN4	29951	broad.mit.edu	37	12	41967460	41967460	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:41967460G>A	uc010skn.2	+	9	2887	c.2879G>A	c.(2878-2880)cGt>cAt	p.R960H	PDZRN4_uc001rmq.4_Missense_Mutation_p.R702H|PDZRN4_uc009zjz.3_Missense_Mutation_p.R700H|PDZRN4_uc001rmr.3_Missense_Mutation_p.R587H	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	960	Poly-Arg.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGCCGTCGCCGTGAGTTCATG	0.527												
ORAI1	84876	broad.mit.edu	37	12	122079482	122079482	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:122079482C>T	uc021rff.1	+	1	1038	c.845C>T	c.(844-846)gCc>gTc	p.A282V		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	280					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GCGGAGTTTGCCCGCTTACAG	0.607												
FOXO1	2308	broad.mit.edu	37	13	41134348	41134348	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr13:41134348C>A	uc001uxl.4	-	1	1665	c.1280G>T	c.(1279-1281)gGc>gTc	p.G427V	FOXO1_uc010acc.1_Missense_Mutation_p.G242V	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	427					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GCTGGATTGGCCATATGTATA	0.488												
FSCB	84075	broad.mit.edu	37	14	44974303	44974303	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr14:44974303C>T	uc001wvn.3	-	0	2197	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	630	Ala-rich.					cilium		p.A630T(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCAGCGGGGGCCTCCTCAGCT	0.642												
HERC2P3	283755	broad.mit.edu	37	15	20645788	20645788	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:20645788G>A	uc001ytg.3	-	19	2997	c.2288C>T	c.(2287-2289)aCg>aTg	p.T763M	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.T763M|HERC2P3_uc010tyy.2_Missense_Mutation_p.T763M					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGAGCAGCGTGATCCACTG	0.617												
CSPG4	1464	broad.mit.edu	37	15	75974722	75974722	+	Missense_Mutation	SNP	C	C	T	rs143855050	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:75974722C>T	uc002baw.3	-	7	4955	c.4862G>A	c.(4861-4863)cGt>cAt	p.R1621H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1621	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGCACCACACGGTAGAGCAG	0.662												
CHRNB4	1143	broad.mit.edu	37	15	78921864	78921864	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:78921864G>A	uc002bed.1	-	4	895	c.783C>T	c.(781-783)ggC>ggT	p.G261G	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.G79G	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	261					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCATCTTCTCGCCGCAGTCGG	0.567												
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	Silent	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:102516424G>T	uc002cdi.3	+	10	2170	c.750G>T	c.(748-750)ccG>ccT	p.P250P	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647												
NPIPA1	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562												
CACNG3	10368	broad.mit.edu	37	16	24372858	24372858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:24372858C>T	uc002dmf.3	+	3	1824	c.622C>T	c.(622-624)Cga>Tga	p.R208*		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	208					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCAGCAGTTACGAGCCAAATC	0.488												
ABCC11	85320	broad.mit.edu	37	16	48210869	48210869	+	Silent	SNP	G	G	A	rs143002804		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:48210869G>A	uc002eff.1	-	23	3854	c.3504C>T	c.(3502-3504)caC>caT	p.H1168H	ABCC11_uc002efg.1_Silent_p.H1168H|ABCC11_uc002efh.1_Silent_p.H1168H|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1168	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H1168H(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCACCACTTCGTGGCCGCGGA	0.562												
MAPK7	5598	broad.mit.edu	37	17	19284297	19284297	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:19284297C>T	uc002gvn.3	+	3	1161	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Missense_Mutation_p.R120C|MAPK7_uc002gvq.3_Missense_Mutation_p.R259C|MAPK7_uc002gvp.3_Missense_Mutation_p.R259C	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	259	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCTGGCCCGGCGCCAGCTCTT	0.567												
GAS2L2	246176	broad.mit.edu	37	17	34072485	34072485	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:34072485C>T	uc002hjv.2	-	5	2059	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	677					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGAGCCAGTCGGGGCTGCCT	0.612												
LHX1	3975	broad.mit.edu	37	17	35297618	35297618	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:35297618C>G	uc002hnh.2	+	1	925	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	LHX1_uc010cux.1_5'UTR	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	68	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCTGCGCTCAGGGCATCTC	0.652												
JUP	3728	broad.mit.edu	37	17	39919367	39919367	+	Silent	SNP	G	G	A	rs77375949	by1000genomes	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:39919367G>A	uc002hxq.2	-	7	1642	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.A455A|JUP_uc002hxs.2_Silent_p.A455A	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	455					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAGCGCAGACGGCAGGCTCCG	0.607												
TEX34	124783	broad.mit.edu	37	17	43333194	43333194	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:43333194G>A	uc002iis.1	-	3	451	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.P98S	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	119																	TGTGGCGTGGGCAGCCCCATG	0.557												
HOXB1	3211	broad.mit.edu	37	17	46607745	46607745	+	Silent	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:46607745G>T	uc002ink.1	-	0	528	c.522C>A	c.(520-522)acC>acA	p.T174T	HOXB1_uc021tzf.1_Silent_p.T174T	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	174						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCGTGGGGGTGTTAGGTT	0.592												
KIF19	124602	broad.mit.edu	37	17	72342551	72342551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72342551delC	uc002jkm.4	+	7	950	c.812delC	c.(811-813)gccfs	p.A271fs	KIF19_uc002jkj.2_Frame_Shift_Del_p.A271fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.A229fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.A229fs	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	271	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGGAGGGGGCCCACATCAAC	0.597												
CD300C	10871	broad.mit.edu	37	17	72539125	72539125	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72539125G>A	uc002jky.1	-	3	762	c.401_splice	c.e3-1	p.A134_splice		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	134	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGGTCGTCCCGGCTGTGGGTG	0.577												
C18orf21	83608	broad.mit.edu	37	18	33554930	33554930	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr18:33554930C>T	uc002kzc.3	+	2	276	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	C18orf21_uc002kzd.3_5'UTR|C18orf21_uc021uit.1_Missense_Mutation_p.R58C|C18orf21_uc021uiu.1_5'UTR	NM_031446	NP_001188404	Q32NC0	CR021_HUMAN	Homo sapiens chromosome 18 open reading frame 21 (C18orf21), transcript variant 1, mRNA.	58										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						CTCTCGAGTGCGTCTCAAACC	0.373												
MUC16	94025	broad.mit.edu	37	19	9062926	9062926	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:9062926C>T	uc002mkp.3	-	2	24724	c.24520G>A	c.(24520-24522)Gtg>Atg	p.V8174M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8176	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGTGACACTGTGAGCTGA	0.502												
TMEM38A	79041	broad.mit.edu	37	19	16790904	16790904	+	Silent	SNP	C	C	T	rs144587502		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:16790904C>T	uc002nes.3	+	1	325	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	78						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGCCACTGATCGATTACTTCA	0.602												
CCNE1	898	broad.mit.edu	37	19	30313489	30313489	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:30313489C>G	uc002nsn.3	+	10	1272	c.1089C>G	c.(1087-1089)caC>caG	p.H363Q	CCNE1_uc002nso.3_Missense_Mutation_p.H348Q	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	363					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	p.T362A(1)|p.H363N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TACAGACCCACAGAGACAGCT	0.507			A		serous ovarian							
ZNF569	148266	broad.mit.edu	37	19	37904887	37904887	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:37904887G>C	uc002ogj.3	-	8	1677	c.745C>G	c.(745-747)Cac>Gac	p.H249D	ZNF569_uc002ogh.3_Missense_Mutation_p.H66D|ZNF569_uc002ogi.3_Missense_Mutation_p.H225D	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCCTTGTGACTGAAGGCT	0.348												
EML2	24139	broad.mit.edu	37	19	46116829	46116829	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:46116829G>A	uc010xxm.2	-	20	2470	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	EML2_uc002pcn.3_Silent_p.H598H|EML2_uc002pcp.3_Silent_p.H482H|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.H745H	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	598					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCTAAACAGGTGAACTTTGC	0.582												
PLB1	151056	broad.mit.edu	37	2	28741363	28741363	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr2:28741363C>A	uc002rmb.2	+	2	192	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PLB1_uc010ezj.2_Missense_Mutation_p.P50T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	50	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCATGCAACCCAAATAAATT	0.428												
HCK	3055	broad.mit.edu	37	20	30681787	30681787	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:30681787T>C	uc002wxh.3	+	10	1451	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A	HCK_uc010gdy.3_Missense_Mutation_p.V385A|HCK_uc021wbv.1_Missense_Mutation_p.V384A|HCK_uc002wxi.3_Missense_Mutation_p.V383A	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	405	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A404D(1)|p.P405S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGGCCCGGGTCATTGAGGAC	0.552												
C20orf132	140699	broad.mit.edu	37	20	35752057	35752057	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:35752057C>T	uc010zvu.2	-	15	2022	c.1931G>A	c.(1930-1932)gGc>gAc	p.G644D	C20orf132_uc002xgk.3_Missense_Mutation_p.G276D	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	55										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TGTGTACAGGCCACTTGGGAT	0.488												
HNF4A	3172	broad.mit.edu	37	20	43042366	43042366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:43042366C>T	uc002xma.3	+	3	507	c.418C>T	c.(418-420)Cga>Tga	p.R140*	HNF4A_uc002xlt.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xlu.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xlv.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xly.3_Nonsense_Mutation_p.R140*|HNF4A_uc010ggq.3_Nonsense_Mutation_p.R133*|HNF4A_uc002xlz.3_Nonsense_Mutation_p.R140*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	140					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATCAGCACTCGAAGGTCAAG	0.632												
LIMK2	3985	broad.mit.edu	37	22	31658176	31658176	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr22:31658176G>A	uc003akh.3	+	5	753	c.608G>A	c.(607-609)cGc>cAc	p.R203H	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.R182H|LIMK2_uc003akk.3_Missense_Mutation_p.R182H|LIMK2_uc011aln.2_Missense_Mutation_p.R120H	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	203	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTGGGGACCGCATCCTGGAG	0.547												
STK32B	55351	broad.mit.edu	37	4	5461833	5461833	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:5461833C>T	uc003gih.1	+	8	851	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	STK32B_uc010ida.1_Silent_p.L216L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	263	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACTGCAGCTCCTGACCAAGGA	0.552											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADH1B	125	broad.mit.edu	37	4	100232699	100232699	+	Missense_Mutation	SNP	A	A	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:100232699A>C	uc003hus.4	-	6	1027	c.943T>G	c.(943-945)Tgg>Ggg	p.W315G	ADH1B_uc003hut.4_Missense_Mutation_p.W275G|ADH1B_uc011ceh.2_Missense_Mutation_p.W160G|ADH1B_uc011cei.1_Missense_Mutation_p.W275G	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	315					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCCCCCTTCCAGGTGCGTCCA	0.433												
TACR3	6870	broad.mit.edu	37	4	104640358	104640358	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:104640358G>A	uc003hxe.1	-	0	616	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	159						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCTGGAAGCGGCAGTAGTTG	0.542												
VEGFC	7424	broad.mit.edu	37	4	177650867	177650867	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:177650867G>A	uc003ius.1	-	1	611	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	61					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.R61P(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GACACAGACCGTAACTGCTCC	0.408												
PLEKHG4B	153478	broad.mit.edu	37	5	140705	140705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:140705C>T	uc003jak.2	+	0	333	c.283C>T	c.(283-285)Cag>Tag	p.Q95*		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	95					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAGGGGCCCAGGCTGCAGC	0.662												
SLC6A19	340024	broad.mit.edu	37	5	1216997	1216997	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:1216997C>T	uc003jbw.4	+	7	1166	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	370					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCAACGCCTCCGACCCCGCGG	0.627												
SLIT3	6586	broad.mit.edu	37	5	168310294	168310294	+	Missense_Mutation	SNP	C	C	T	rs138901310		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:168310294C>T	uc010jjg.3	-	4	881	c.461G>A	c.(460-462)cGc>cAc	p.R154H	SLIT3_uc003mab.3_Missense_Mutation_p.R154H|SLIT3_uc010jji.2_Missense_Mutation_p.R154H	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	154					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGATGCCGCGGAACGCCTT	0.502												
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:30954349A>G	uc003nsh.2	+	1	648	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S117G	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.A132V(2)|p.S133R(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612												
TFAP2D	83741	broad.mit.edu	37	6	50696983	50696983	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:50696983C>T	uc003paf.3	+	4	1353	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	281	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGCAGGAAGACGGAAAGCAGC	0.423												
EPB41L2	2037	broad.mit.edu	37	6	131277174	131277174	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:131277174C>G	uc003qch.2	-	1	634	c.452G>C	c.(451-453)aGc>aCc	p.S151T	EPB41L2_uc010kfl.2_Missense_Mutation_p.S151T|EPB41L2_uc003qcg.1_Missense_Mutation_p.S151T|EPB41L2_uc003qci.3_Missense_Mutation_p.S151T|EPB41L2_uc011eby.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfk.2_Missense_Mutation_p.S151T	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	151					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTTCCTTGCTCACTGAGGG	0.408												
C6orf118	168090	broad.mit.edu	37	6	165715366	165715366	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:165715366C>T	uc003qum.4	-	1	481	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	149										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACAGCCTCCACTGGAAGGAAA	0.627												
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55225428	55225428	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55225428G>T	uc003tqk.3	+	10	1526	c.1280G>T	c.(1279-1281)cGc>cTc	p.R427L	EGFR_uc003tqi.3_Missense_Mutation_p.R427L|EGFR_uc003tqj.3_Missense_Mutation_p.R427L|EGFR_uc022adm.1_Missense_Mutation_p.R427L|EGFR_uc010kzg.2_Missense_Mutation_p.R382L|EGFR_uc022adn.1_Missense_Mutation_p.R382L|EGFR_uc011kco.2_Missense_Mutation_p.R374L|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	427					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAAATCATACGCGGCAGGACC	0.453		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CNPY4	245812	broad.mit.edu	37	7	99717380	99717380	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:99717380C>T	uc003uto.3	+	0	116	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	TAF6_uc003utm.3_5'Flank|TAF6_uc003uti.3_5'Flank|TAF6_uc003utk.3_5'Flank|TAF6_uc011kji.2_5'UTR	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.	5						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGACCTGTGCGGTTGGGAAT	0.542												
SPDYE6	729597	broad.mit.edu	37	7	101989079	101989079	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:101989079G>T	uc011kkp.2	-	5	1215	c.794C>A	c.(793-795)tCc>tAc	p.S265Y	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	265																	GTTTTGTTTGGAGTCCTCGTC	0.557												
SPAM1	6677	broad.mit.edu	37	7	123594466	123594466	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:123594466G>A	uc003vle.3	+	2	1281	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.R281Q|SPAM1_uc022aks.1_Missense_Mutation_p.R281Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R281Q|SPAM1_uc010lku.3_Missense_Mutation_p.R281Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	281					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GTGCGCAATCGAGTTCGGGAA	0.428												
FLNC	2318	broad.mit.edu	37	7	128491526	128491526	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:128491526G>A	uc003vnz.4	+	34	5895	c.5686G>A	c.(5686-5688)Gtg>Atg	p.V1896M	FLNC_uc003voa.4_Missense_Mutation_p.V1863M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1896					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTCACTGGCCGTGGAGGGCCC	0.622												
SLC13A4	26266	broad.mit.edu	37	7	135376342	135376342	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:135376342G>A	uc003vtb.3	-	11	1964	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	SLC13A4_uc003vta.3_Silent_p.L424L|C7orf73_uc003vsz.4_Non-coding_Transcript	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	424						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GAATGAGGAAGAGGAGGAAGC	0.478												
CLU	1191	broad.mit.edu	37	8	27456003	27456003	+	Silent	SNP	C	C	T	rs144959547	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:27456003C>T	uc003xfy.2	-	7	1494	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	CLU_uc003xfw.2_Silent_p.A438A|CLU_uc003xfx.2_Silent_p.A438A|CLU_uc003xfz.2_Silent_p.A438A	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	438					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATTCCTGCAGCGCTTTCTCCG	0.542												
ZBTB10	65986	broad.mit.edu	37	8	81431744	81431744	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:81431744G>T	uc003ybx.4	+	5	3195	c.2597G>T	c.(2596-2598)tGt>tTt	p.C866F	ZBTB10_uc003ybv.4_Missense_Mutation_p.C574F|ZBTB10_uc003ybw.4_Missense_Mutation_p.C842F|ZBTB10_uc022awq.1_Missense_Mutation_p.C842F|ZBTB10_uc010lzt.3_Missense_Mutation_p.C864F|ZBTB10_uc022awr.1_Non-coding_Transcript	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.	866					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GGAGAAGTTTGTATGTCTCTA	0.408												
TAF1L	138474	broad.mit.edu	37	9	32630679	32630679	+	Silent	SNP	A	A	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:32630679A>T	uc003zrg.1	-	0	4989	c.4899T>A	c.(4897-4899)ctT>ctA	p.L1633L	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1633					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TATCCTTCTCAAGTTGAGTCA	0.448												
OR13C9	286362	broad.mit.edu	37	9	107379535	107379535	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:107379535G>A	uc011lvr.2	-	0	951	c.951C>T	c.(949-951)agC>agT	p.S317S		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCATTCACTTGCTAAAGAACC	0.353												
SVEP1	79987	broad.mit.edu	37	9	113173765	113173765	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:113173765G>A	uc010mtz.3	-	36	6563	c.6226C>T	c.(6226-6228)Ccc>Tcc	p.P2076S	SVEP1_uc010mty.3_Missense_Mutation_p.P2S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2076	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATACAACGGGGCATGTCTTGA	0.483												
ADAMTS13	11093	broad.mit.edu	37	9	136302931	136302931	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:136302931G>A	uc004cdv.4	+	12	1942	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D500N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D469N|ADAMTS13_uc004cdw.4_Missense_Mutation_p.D500N|ADAMTS13_uc004cdx.4_Missense_Mutation_p.D469N|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.D170N|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Intron	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	500					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAAGCGTGGAGACAGCTTCCT	0.627												
ASMT	438	broad.mit.edu	37	X	1746635	1746635	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:1746635C>T	uc004cqd.3	+	4	630	c.414C>T	c.(412-414)ccC>ccT	p.P138P	ASMT_uc010ncy.3_Silent_p.P138P|ASMT_uc004cqe.3_Silent_p.P138P	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	138					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGCGTTCCCGCTGAAGAGC	0.388												
FIGF	2277	broad.mit.edu	37	X	15381369	15381369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:15381369G>A	uc004cwt.2	-	1	630	c.163C>T	c.(163-165)Cga>Tga	p.R55*	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	55					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGAGTAATTCGAAGTAGTTCC	0.453												
KIAA1210	57481	broad.mit.edu	37	X	118221675	118221675	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:118221675C>T	uc004era.4	-	10	3518	c.3518G>A	c.(3517-3519)cGa>cAa	p.R1173Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1173										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCTCTAGTCGTGAGGTCAT	0.468												
FLNA	2316	broad.mit.edu	37	X	153588591	153588591	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:153588591G>A	uc004fkk.2	-	21	3821	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.A1191V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1191					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCAGCTCCGCGCTGCCCGC	0.642											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
RAB39B	116442	broad.mit.edu	37	X	154490213	154490213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:154490213C>A	uc004fne.3	-	1	796	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	173					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTAACCAGCTCATATATGTCT	0.473