Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAM153C	653316	broad.mit.edu	37	5	177468711	177468711	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:177468711G>A	ENST00000398106.2	+	6	604	c.151G>A	c.(151-153)Gag>Aag	p.E51K	FAM153C_ENST00000511189.1_Missense_Mutation_p.E80K|FAM153C_ENST00000507848.1_Missense_Mutation_p.E51K					family with sequence similarity 153, member C											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGACCTGGAGGAGCATCT	0.522000													61	168					0	0	0.014410	0	0
NUP160	23279	broad.mit.edu	37	11	47819815	47819815	+	Splice_Site	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:47819815C>A	ENST00000378460.2	-	25	3038		c.e25-1		NUP160_ENST00000530326.1_Splice_Site|NUP160_ENST00000528071.1_Splice_Site	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTAGAGTAGCCTAAATATCAA	0.353000													8	40					0.000157383	0.000202419	0.003080	1	0
RPIA	22934	broad.mit.edu	37	2	89034118	89034118	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:89034118T>C	ENST00000283646.4	+	5	567	c.512T>C	c.(511-513)cTc>cCc	p.L171P		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	171					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GATCTCAATCTCATCAAGGGT	0.463000													31	62					0	0	0.009535	0	0
RAB3D	9545	broad.mit.edu	37	19	11446394	11446394	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:11446394G>C	ENST00000222120.3	-	3	554	c.294C>G	c.(292-294)ttC>ttG	p.F98L	RAB3D_ENST00000589655.1_Missense_Mutation_p.F98L	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	98					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						ACATGAGCAGGAAGCCCATGG	0.587000													36	155					0	0	0.009718	0	0
ADAM7	8756	broad.mit.edu	37	8	24324310	24324310	+	Splice_Site	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:24324310A>C	ENST00000175238.6	+	6	472		c.e6-1		ADAM7_ENST00000380789.1_Splice_Site|ADAM7_ENST00000441335.2_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAATTTCTACAGGGGATTCTT	0.383000													8	15					0	0	0.004482	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32199130	32199130	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:32199130C>T	ENST00000492345.1	+	5	1034	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	CBFA2T2_ENST00000344201.3_Missense_Mutation_p.L117F|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L117F|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L156F|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L146F|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.L146F|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L137F|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.L117F			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	146	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GACTCTTGTTCTTGCACTGGT	0.478000													15	134					0	0	0.020292	0	0
DND1	373863	broad.mit.edu	37	5	140052881	140052881	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140052881C>T	ENST00000542735.1	-	2	160	c.117G>A	c.(115-117)caG>caA	p.Q39Q	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	39					multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACTTCCTCTGCCCGTTCA	0.667000													25	71					0	0	0.007291	0	0
EZH2	2146	broad.mit.edu	37	7	148526870	148526870	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:148526870A>T	ENST00000320356.2	-	5	555	c.434T>A	c.(433-435)tTc>tAc	p.F145Y	EZH2_ENST00000476773.1_Missense_Mutation_p.F136Y|EZH2_ENST00000541220.1_Missense_Mutation_p.F136Y|EZH2_ENST00000483967.1_Missense_Mutation_p.F136Y|EZH2_ENST00000350995.2_Missense_Mutation_p.F106Y|EZH2_ENST00000478654.1_Missense_Mutation_p.F136Y|EZH2_ENST00000536783.1_Missense_Mutation_p.F36Y|EZH2_ENST00000460911.1_Missense_Mutation_p.F145Y	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	145	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.F145C(1)|p.F145S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTCTTCAATGAAAGTACCATC	0.333000			Mis		DLBCL								12	56					0	0	0.010729	0	0
SDK1	221935	broad.mit.edu	37	7	4107520	4107520	+	Missense_Mutation	SNP	C	C	G	rs142269128		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:4107520C>G	ENST00000404826.2	+	20	3101	c.2962C>G	c.(2962-2964)Ctc>Gtc	p.L988V	SDK1_ENST00000389531.3_Missense_Mutation_p.L988V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	988	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGACACATCTCTCAAGGTCAG	0.423000													5	35					0	0	0.014758	0	0
TP53BP2	7159	broad.mit.edu	37	1	223976866	223976866	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:223976866G>A	ENST00000391878.2	-	17	3388	c.2620C>T	c.(2620-2622)Cat>Tat	p.H874Y	TP53BP2_ENST00000391879.2_Missense_Mutation_p.H236Y|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.H1003Y	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	997	Pro-rich.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCAGCACAATGTAATGGAGTC	0.458000													19	88					0	0	0.012319	0	0
VPS13D	55187	broad.mit.edu	37	1	12429573	12429573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:12429573G>T	ENST00000358136.3	+	54	10754	c.10624G>T	c.(10624-10626)Gaa>Taa	p.E3542*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E3517*|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3541					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTCCGGACTGAAGTGAAGCC	0.517000													28	181					1.88708e-17	2.62934e-17	0.008361	1	0
MYO5B	4645	broad.mit.edu	37	18	47369614	47369614	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:47369614C>T	ENST00000285039.7	-	34	4907	c.4608G>A	c.(4606-4608)ctG>ctA	p.L1536L	MYO5B_ENST00000592688.1_Silent_p.L106L|MYO5B_ENST00000324581.6_Silent_p.L651L|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1536	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGCTTACTTTCAGGACTTTCT	0.527000													9	30					0	0	0.006214	0	0
TULP1	7287	broad.mit.edu	37	6	35471540	35471540	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:35471540G>A	ENST00000229771.6	-	12	1277	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	TULP1_ENST00000322263.4_Missense_Mutation_p.R347W	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	400			R -> W (in LCA15).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCTCCTGCCGAAGGCTTGCC	0.597000													21	7					0	0	0.014323	0	0
EVC2	132884	broad.mit.edu	37	4	5586480	5586480	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:5586480G>C	ENST00000310917.2	-	17	3418	c.2687C>G	c.(2686-2688)tCc>tGc	p.S896C	EVC2_ENST00000344938.1_Missense_Mutation_p.S976C|EVC2_ENST00000344408.5_Missense_Mutation_p.S976C	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	976						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGTCACCCGGGACGCCTTCTG	0.607000													16	35					0	0	0.006122	0	0
AMFR	267	broad.mit.edu	37	16	56423172	56423172	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:56423172C>T	ENST00000290649.5	-	9	1411	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	401					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ACCAAATTCTCATCCAAGTTC	0.448000													16	113					0	0	0.004990	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798111	31798111	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:31798111G>A	ENST00000390690.2	-	1	175	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	40						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TGGGAGAGCAGAGGTCAGTGC	0.582000													8	82					0	0	0.004482	0	0
ADAT1	23536	broad.mit.edu	37	16	75646149	75646149	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:75646149C>T	ENST00000307921.3	-	7	1180	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	345	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						ACCTTCCAATCAGTGCTCTCT	0.512000													19	104					0	0	0.012319	0	0
CPXM2	119587	broad.mit.edu	37	10	125506529	125506529	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:125506529G>T	ENST00000241305.3	-	14	2176	c.2022C>A	c.(2020-2022)aaC>aaA	p.N674K	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	674					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AATCCCCATCGTTGGCTGTGA	0.552000													24	208					3.28513e-13	4.50224e-13	0.021523	1	0
USP4	7375	broad.mit.edu	37	3	49363263	49363263	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:49363263G>A	ENST00000351842.4	-	4	384	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	USP4_ENST00000416417.1_Silent_p.L126L|USP4_ENST00000415188.1_Silent_p.L126L|USP4_ENST00000265560.4_Silent_p.L126L	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	126					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGACAAACAGGCCATGCTCC	0.498000													35	119					0	0	0.007835	0	0
RTN1	6252	broad.mit.edu	37	14	60193667	60193667	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:60193667G>C	ENST00000267484.5	-	3	2070	c.1735C>G	c.(1735-1737)Ccc>Gcc	p.P579A		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	579					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGCAGTGGGGGCGGGGCGCCA	0.582000													6	22					0	0	0.001984	0	0
FAM71B	153745	broad.mit.edu	37	5	156589870	156589870	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:156589870G>T	ENST00000302938.4	-	2	1501	c.1406C>A	c.(1405-1407)tCc>tAc	p.S469Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	469						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAGATGCGGACCGGTGGGA	0.532000													130	22					2.27054e-47	3.23369e-47	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179578817	179578817	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179578817G>C	ENST00000589042.1	-	92	26792	c.26568C>G	c.(26566-26568)acC>acG	p.T8856T	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.T7612T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.T8539T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8539	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTTCAGGGGTGCCAGCTA	0.413000													13	17					0	0	0.013537	0	0
MR1	3140	broad.mit.edu	37	1	181018405	181018405	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:181018405C>G	ENST00000367580.5	+	2	290	c.285C>G	c.(283-285)ttC>ttG	p.F95L	MR1_ENST00000367579.3_Missense_Mutation_p.F95L|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.F95L|MR1_ENST00000282990.6_Missense_Mutation_p.F95L	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	95	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						AGCAGATGTTCAAGGTGGAAC	0.617000													8	44					0	0	0.004482	0	0
IL27RA	9466	broad.mit.edu	37	19	14150615	14150615	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:14150615G>A	ENST00000263379.2	+	4	552	c.427G>A	c.(427-429)Gac>Aac	p.D143N		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	143	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TTCCGAGGATGACCCCCTGGA	0.607000													91	45					0	0	0.014410	0	0
TMEM100	55273	broad.mit.edu	37	17	53798395	53798395	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:53798395G>A	ENST00000575734.1	-	4	845	c.37C>T	c.(37-39)Cca>Tca	p.P13S	TMEM100_ENST00000424486.2_Missense_Mutation_p.P13S	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	13						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TGAGCCTTTGGGGCTCCCAGG	0.507000													25	159					0	0	0.004656	0	0
ARRB1	408	broad.mit.edu	37	11	74977287	74977287	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:74977287G>A	ENST00000420843.2	-	16	1274	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	ARRB1_ENST00000393505.4_Missense_Mutation_p.R393C|ARRB1_ENST00000360025.3_Missense_Mutation_p.R385C	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	393	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						AGTCTCTGGCGAGCAAAGTCC	0.547000													28	152					0	0	0.006320	0	0
KRT36	8689	broad.mit.edu	37	17	39645947	39645947	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:39645947G>C	ENST00000393986.2	-	2	232	c.20C>G	c.(19-21)tCt>tGt	p.S7C	KRT36_ENST00000328119.6_Missense_Mutation_p.S57C			O76013	KRT36_HUMAN	keratin 36	57	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCCAAGGCCAGAGAGGCCCGA	0.637000													104	53					0	0	0.014410	0	0
KIAA1429	25962	broad.mit.edu	37	8	95508024	95508024	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:95508024G>A	ENST00000297591.5	-	19	4554	c.4479C>T	c.(4477-4479)ctC>ctT	p.L1493L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1493					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CCTGGTCACTGAGAGGTAAAG	0.388000													12	97					0	0	0.016723	0	0
MAPK8	5599	broad.mit.edu	37	10	49633979	49633979	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:49633979C>G	ENST00000374189.1	+	8	918	c.737C>G	c.(736-738)cCt>cGt	p.P246R	MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000360332.3_Missense_Mutation_p.P246R|MAPK8_ENST00000374182.3_Missense_Mutation_p.P246R			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	246	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ACACCATGTCCTGAATTCATG	0.343000													13	18					0	0	0.020292	0	0
ADCY3	109	broad.mit.edu	37	2	25141819	25141819	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:25141819G>A	ENST00000260600.5	-	1	889	c.38C>T	c.(37-39)tCg>tTg	p.S13L		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	13					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					gtactcggccgagtattcggG	0.642000													4	21					0	0	0.014758	0	0
UBR5	51366	broad.mit.edu	37	8	103354706	103354706	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:103354706C>G	ENST00000520539.1	-	9	1699	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H	UBR5_ENST00000521922.1_Missense_Mutation_p.D359H|UBR5_ENST00000220959.4_Missense_Mutation_p.D365H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	365					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATACCTTATCAGGCCACCAC	0.408000													24	144					0	0	0.018920	0	0
BIRC6	57448	broad.mit.edu	37	2	32743962	32743962	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:32743962C>T	ENST00000421745.2	+	57	11706	c.11572C>T	c.(11572-11574)Ctt>Ttt	p.L3858F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3858					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.L3830I(1)|p.L3858I(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTCCGTACTCTTCATTTGCC	0.368000													7	36					0	0	0.004482	0	0
FAM71F1	84691	broad.mit.edu	37	7	128355536	128355536	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:128355536C>G	ENST00000315184.5	+	1	94	c.41C>G	c.(40-42)tCa>tGa	p.S14*	FAM71F1_ENST00000469348.1_Intron|FAM71F1_ENST00000485070.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	14										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGGAGGAAATCAAAGAAGACA	0.493000													53	58					0	0	0.014410	0	0
PRPF6	24148	broad.mit.edu	37	20	62624835	62624835	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:62624835C>G	ENST00000535781.1	+	4	546	c.435C>G	c.(433-435)ctC>ctG	p.L145L	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	145					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TCTCAGACCTCAAGGTGAGCC	0.463000													23	38					0	0	0.004656	0	0
BTBD7	55727	broad.mit.edu	37	14	93717986	93717986	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:93717986C>T	ENST00000334746.5	-	8	2072	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	BTBD7_ENST00000393170.2_Missense_Mutation_p.E163K|BTBD7_ENST00000554565.1_Missense_Mutation_p.E238K	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	589										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACCATCATCTCATCTAGCACT	0.403000													49	37					0	0	0.014410	0	0
GLI3	2737	broad.mit.edu	37	7	42005202	42005202	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:42005202C>T	ENST00000395925.3	-	15	3553	c.3469G>A	c.(3469-3471)Gac>Aac	p.D1157N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1157					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATGGGCAGGTCGGTTTTGCTG	0.692000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				55	245					0	0	0.014410	0	0
ZNF117	51351	broad.mit.edu	37	7	64439571	64439571	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:64439571T>A	ENST00000282869.6	-	4	1662	c.378A>T	c.(376-378)caA>caT	p.Q126H		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TTCTTTTATGTTGAGTTAGGT	0.308000													6	15					0	0	0.001168	0	0
SZT2	23334	broad.mit.edu	37	1	43890034	43890034	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:43890034G>T	ENST00000562955.1	+	16	2402	c.2402G>T	c.(2401-2403)aGt>aTt	p.S801I	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	801						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGCTTTGGAGTGTCCCGTCA	0.622000													26	112					9.39395e-14	1.2938e-13	0.006320	1	0
LPHN3	23284	broad.mit.edu	37	4	62849142	62849142	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:62849142C>A	ENST00000512091.2	+	18	3600	c.2853C>A	c.(2851-2853)ttC>ttA	p.F951L	LPHN3_ENST00000504896.1_Missense_Mutation_p.F951L|LPHN3_ENST00000506720.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000514591.1_Missense_Mutation_p.F951L|LPHN3_ENST00000545650.1_Missense_Mutation_p.F951L|LPHN3_ENST00000507625.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000506746.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000511324.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000508693.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000506700.1_Missense_Mutation_p.F951L|LPHN3_ENST00000514996.1_Missense_Mutation_p.F951L|LPHN3_ENST00000509896.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000508946.1_Missense_Mutation_p.F951L|LPHN3_ENST00000507164.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000514157.1_Missense_Mutation_p.F951L			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.F951L(2)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTTCTTCTTCTTGGCTGCCT	0.433000													4	16					0.00024832	0.00031791	0.009096	1	0
KIF17	57576	broad.mit.edu	37	1	21042025	21042025	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:21042025G>C	ENST00000247986.2	-	2	649	c.339C>G	c.(337-339)atC>atG	p.I113M	KIF17_ENST00000375044.1_Missense_Mutation_p.I13M|KIF17_ENST00000400463.3_Missense_Mutation_p.I113M			Q9P2E2	KIF17_HUMAN	kinesin family member 17	113	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCCTGGGGATGATGCCTCTCT	0.652000													25	107					0	0	0.004656	0	0
CD3EAP	10849	broad.mit.edu	37	19	45910367	45910367	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:45910367C>T	ENST00000309424.3	+	2	526	c.38C>T	c.(37-39)tCt>tTt	p.S13F	CD3EAP_ENST00000589804.1_Missense_Mutation_p.S15F	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	13					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	p.S13C(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GCTCGGTTCTCTTGTCCCCCC	0.592000													27	221					0	0	0.005443	0	0
DHRS11	79154	broad.mit.edu	37	17	34951498	34951498	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:34951498C>T	ENST00000251312.5	+	2	457	c.245C>T	c.(244-246)tCa>tTa	p.S82L	DHRS11_ENST00000394445.1_3'UTR|DHRS11_ENST00000590554.1_Missense_Mutation_p.S3L	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	82						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						TCCATGTTCTCAGCTATCCGT	0.542000													96	118					0	0	0.014410	0	0
EML5	161436	broad.mit.edu	37	14	89109329	89109329	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:89109329C>G	ENST00000554922.1	-	31	4393	c.4145G>C	c.(4144-4146)aGa>aCa	p.R1382T	EML5_ENST00000380664.5_Missense_Mutation_p.R1374T|EML5_ENST00000352093.5_Missense_Mutation_p.R1336T	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1374						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCTACAGTCTCTGCCTCGATA	0.338000													16	45					0	0	0.004990	0	0
OR14K1	343170	broad.mit.edu	37	1	247902465	247902465	+	Silent	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:247902465A>G	ENST00000283225.2	+	1	549	c.549A>G	c.(547-549)ctA>ctG	p.L183L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CTGCCCTACTAAAGCTCACTT	0.438000													23	151					0	0	0.005443	0	0
MYH13	8735	broad.mit.edu	37	17	10243492	10243492	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10243492C>G	ENST00000418404.3	-	17	2194	c.2031G>C	c.(2029-2031)ctG>ctC	p.L677L	MYH13_ENST00000252172.4_Silent_p.L677L|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	677	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CATTGGGAATCAGACATCGTA	0.428000													18	4					0	0	0.010504	0	0
NPDC1	56654	broad.mit.edu	37	9	139937556	139937556	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:139937556C>T	ENST00000371600.3	-	1	988	c.316G>A	c.(316-318)Gag>Aag	p.E106K	NPDC1_ENST00000488145.1_Intron|NPDC1_ENST00000371601.4_Intron			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	32						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGGGCCGGCTCACGGCCCCGC	0.716000													16	18					0	0	0.004990	0	0
ATAD2	29028	broad.mit.edu	37	8	124392872	124392872	+	Missense_Mutation	SNP	C	C	G	rs148295369		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:124392872C>G	ENST00000287394.5	-	2	324	c.217G>C	c.(217-219)Gct>Cct	p.A73P	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GATCTTAAAGCACGTGTCCGG	0.358000													7	153					0	0	0.001984	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585512	70585512	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:70585512G>A	ENST00000260126.4	-	10	2845	c.2139C>T	c.(2137-2139)tgC>tgT	p.C713C	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.C658C	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCCAGAGCATGCAGGTGGTGT	0.478000													42	214					0	0	0.008740	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494488	123494488	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:123494488G>A	ENST00000280562.5	-	5	757	c.552C>T	c.(550-552)gtC>gtT	p.V184V	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000542749.1_Silent_p.V184V|PITPNM2_ENST00000546049.1_Silent_p.V184V|PITPNM2_ENST00000320201.4_Silent_p.V184V|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	184					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGATGGGGAAGACCTGCTTCT	0.562000													55	190					0	0	0.014410	0	0
MPI	4351	broad.mit.edu	37	15	75183880	75183880	+	Missense_Mutation	SNP	C	C	T	rs104894494		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:75183880C>T	ENST00000352410.4	+	3	372	c.305C>T	c.(304-306)tCa>tTa	p.S102L	MPI_ENST00000562606.1_Missense_Mutation_p.S82L|MPI_ENST00000563786.1_Missense_Mutation_p.S82L|MPI_ENST00000563422.1_Missense_Mutation_p.S102L|MPI_ENST00000566377.1_Missense_Mutation_p.S102L|MPI_ENST00000565576.1_Missense_Mutation_p.S102L|MPI_ENST00000323744.6_Missense_Mutation_p.S102L|MPI_ENST00000564003.1_Missense_Mutation_p.S52L|MPI_ENST00000535694.1_Missense_Mutation_p.S52L			P34949	MPI_HUMAN	mannose phosphate isomerase	102			S -> L (in CDG1B).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						AAAGTGCTCTCAGTTGAAACA	0.532000													44	107					0	0	0.014410	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387551	50387551	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50387551G>C	ENST00000221543.5	+	11	1467	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	TBC1D17_ENST00000535102.2_Missense_Mutation_p.E357Q	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	390	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CAAGTTCTACGAGGGTCCCGA	0.632000													44	310					0	0	0.010771	0	0
CARD6	84674	broad.mit.edu	37	5	40843437	40843437	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:40843437G>C	ENST00000254691.5	+	2	666	c.467G>C	c.(466-468)aGg>aCg	p.R156T	CARD6_ENST00000381677.3_Missense_Mutation_p.R156T	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	156					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACTAGTTATAGGGAAACAGCT	0.418000													4	73					0	0	0.009096	0	0
SIX3	6496	broad.mit.edu	37	2	45171878	45171878	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:45171878C>G	ENST00000260653.3	+	2	1320	c.978C>G	c.(976-978)agC>agG	p.S326R		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	326					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAACCTCCAGCGACTCGGAAT	0.672000													3	9					0	0	0.009096	0	0
IRX2	153572	broad.mit.edu	37	5	2748596	2748596	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:2748596C>A	ENST00000382611.6	-	3	1474	c.1226G>T	c.(1225-1227)cGg>cTg	p.R409L	IRX2_ENST00000302057.5_Missense_Mutation_p.R409L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	409						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		AGAGTTGTACCGCAGGAGACC	0.716000													31	67					8.16721e-17	1.13607e-16	0.010818	1	0
PATZ1	23598	broad.mit.edu	37	22	31731850	31731850	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:31731850C>G	ENST00000266269.5	-	3	1965		c.e3-1		PATZ1_ENST00000405309.3_Splice_Site|PATZ1_ENST00000351933.4_Splice_Site|RP3-400N23.6_ENST00000451161.1_RNA|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CATTGCAGGTCTGAAGGCAGA	0.552000													4	76					0	0	0.009096	0	0
KMT2D	8085	broad.mit.edu	37	12	49446375	49446375	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:49446375C>G	ENST00000301067.7	-	9	1229	c.1230G>C	c.(1228-1230)ggG>ggC	p.G410G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATTGCAGGGGCCCTGGTTCCT	0.547000													10	25					0	0	0.008291	0	0
KIAA1109	84162	broad.mit.edu	37	4	123117944	123117944	+	Silent	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:123117944A>C	ENST00000264501.4	+	12	1580	c.1207A>C	c.(1207-1209)Agg>Cgg	p.R403R	KIAA1109_ENST00000388738.3_Silent_p.R403R|KIAA1109_ENST00000455637.1_Silent_p.R403R|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	403					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACCAAAAATAGGGtaattat	0.299000													12	27					0	0	0.010729	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190099	5190099	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:5190099A>T	ENST00000274181.7	+	7	1201	c.1063A>T	c.(1063-1065)Agt>Tgt	p.S355C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S355C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	355	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACTGGTGATAAGTCACCACGC	0.473000													11	110					0	0	0.013537	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890988	32890988	+	RNA	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:32890988G>T	ENST00000330048.5	-	0	2978					NR_003083.2																						GCCAGAGCAGGGTGGTGCCAC	0.627000													37	61					3.66082e-28	5.196e-28	0.005524	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121651654	121651654	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:121651654G>A	ENST00000393386.2	+	12	2965	c.2554G>A	c.(2554-2556)Gat>Aat	p.D852N	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	852					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TACCGAGAGTGATAAGGTGCC	0.473000													10	81					0	0	0.008291	0	0
PI3	5266	broad.mit.edu	37	20	43804728	43804728	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:43804728G>A	ENST00000243924.3	+	2	353	c.306G>A	c.(304-306)aaG>aaA	p.K102K		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	102	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAGGAATCAAGAAGTGCTGTG	0.542000													16	134					0	0	0.004990	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126901	19126901	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:19126901T>A	ENST00000381440.3	+	1	1648	c.1118T>A	c.(1117-1119)cTc>cAc	p.L373H	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	373						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCTGCTACCTCAAGTGCCTG	0.647000													34	146					0	0	0.013726	0	0
RXRA	6256	broad.mit.edu	37	9	137300887	137300887	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:137300887C>G	ENST00000540193.1	+	3	1164	c.241C>G	c.(241-243)Ctg>Gtg	p.L81V	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.L178V			P19793	RXRA_HUMAN	retinoid X receptor, alpha	178	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CAAGGACTGCCTGATTGACAA	0.627000													5	195					0	0	0.001168	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954018	32954018	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:32954018T>G	ENST00000321639.5	+	3	998	c.670T>G	c.(670-672)Tat>Gat	p.Y224D		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	224						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CATCCTCCTCTATCTGGCCCC	0.632000													20	134					0	0	0.014323	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579264	35579264	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:35579264C>T	ENST00000373330.1	+	11	2007	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.F611F			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	611						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGTTGACTTCTATAACAGTA	0.299000													15	54					0	0	0.004007	0	0
ESPL1	9700	broad.mit.edu	37	12	53679861	53679861	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:53679861A>T	ENST00000257934.4	+	18	3432	c.3341A>T	c.(3340-3342)aAg>aTg	p.K1114M	ESPL1_ENST00000552462.1_Missense_Mutation_p.K1114M	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1114					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACTGTGGCCAAGGAGCCTGGC	0.602000													39	139					0	0	0.005524	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197827	142197827	+	RNA	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:142197827C>G	ENST00000471935.1	-	0	150																											TCTCTATAATCTTATATCCGG	0.443000													3	53					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179642507	179642507	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179642507A>C	ENST00000589042.1	-	25	4628	c.4404T>G	c.(4402-4404)tgT>tgG	p.C1468W	TTN_ENST00000360870.5_Missense_Mutation_p.C1468W|TTN_ENST00000342992.6_Missense_Mutation_p.C1468W|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C1422W|TTN_ENST00000460472.2_Missense_Mutation_p.C1422W|TTN_ENST00000591111.1_Missense_Mutation_p.C1468W|TTN_ENST00000342175.6_Missense_Mutation_p.C1422W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1468	Ig-like 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCTTCTAAACATTTGAAAG	0.418000													12	59					0	0	0.013537	0	0
ZNF620	253639	broad.mit.edu	37	3	40553923	40553923	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:40553923C>G	ENST00000314529.6	+	4	331	c.182C>G	c.(181-183)tCc>tGc	p.S61C	ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTTCTGGTCTCCCAGCTGGAG	0.572000													25	12					0	0	0.004656	0	0
GCC2	9648	broad.mit.edu	37	2	109087478	109087478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:109087478C>T	ENST00000309863.6	+	6	2407	c.1693C>T	c.(1693-1695)Caa>Taa	p.Q565*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	565					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGAACCTTCAAGAAAAGAA	0.348000													7	29					0	0	0.001984	0	0
OTOF	9381	broad.mit.edu	37	2	26706369	26706369	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:26706369G>C	ENST00000272371.2	-	13	1479	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L	OTOF_ENST00000403946.3_Silent_p.L451L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	451	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGGTCCACGAGGTCCTTGT	0.537000													15	92					0	0	0.003163	0	0
GATS	352954	broad.mit.edu	37	7	99821277	99821277	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:99821277T>A	ENST00000436886.2	-	4	704	c.456A>T	c.(454-456)tcA>tcT	p.S152S	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN		152										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTGAACTCTGATGACAACG	0.612000													49	217					0	0	0.014410	0	0
CYTH3	9265	broad.mit.edu	37	7	6227353	6227353	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:6227353C>T	ENST00000350796.3	-	3	254		c.e3-1			NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ATTTCAGCCTCTGTCAAAAAA	0.433000													20	79					0	0	0.008871	0	0
LIPH	200879	broad.mit.edu	37	3	185245344	185245344	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:185245344C>A	ENST00000296252.4	-	4	697	c.556G>T	c.(556-558)Ggg>Tgg	p.G186W	LIPH_ENST00000424591.2_Intron	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	186			Missing (in LAH2).		lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGAGGTTTCCCGTTGAATAAA	0.532000													5	155					0.000602214	0.000762805	0.014758	1	0
BAZ2B	29994	broad.mit.edu	37	2	160206576	160206576	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:160206576G>C	ENST00000392783.2	-	28	5001	c.4506C>G	c.(4504-4506)aaC>aaG	p.N1502K	BAZ2B_ENST00000343439.5_Missense_Mutation_p.N1402K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.N1468K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.N1466K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTTTTCCACTGTTCTGATAAG	0.448000													17	43					0	0	0.004007	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111745534	111745534	+	Missense_Mutation	SNP	C	C	T	rs150483984	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:111745534C>T	ENST00000374595.4	-	6	870	c.791G>A	c.(790-792)cGt>cAt	p.R264H	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.R264H|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R264H			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	264					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CACTTTCATACGGTCAAATAC	0.333000													10	46					0	0	0.016723	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27778216	27778216	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:27778216C>A	ENST00000369163.2	+	1	375	c.365C>A	c.(364-366)cCc>cAc	p.P122H		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	122				P -> L (in Ref. 13; AAH66884).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						ACTATCATGCCCAAGGACATC	0.592000													6	51					5.18039e-06	6.79876e-06	0.003080	1	0
MYO15A	51168	broad.mit.edu	37	17	18042859	18042859	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:18042859C>T	ENST00000205890.5	+	19	5483	c.5145C>T	c.(5143-5145)ttC>ttT	p.F1715F	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1715	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCACAAGTTCCTGGACAAGA	0.592000													47	25					0	0	0.014410	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038306	14038306	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:14038306C>G	ENST00000380523.4	-	4	681	c.363G>C	c.(361-363)gaG>gaC	p.E121D	GEMIN8_ENST00000398355.3_Missense_Mutation_p.E121D|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	121					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CAGTCTCCATCTCTTCCTCTT	0.483000													115	24					0	0	0.014410	0	0
NR1I2	8856	broad.mit.edu	37	3	119535943	119535943	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:119535943C>A	ENST00000393716.2	+	9	3028	c.1189C>A	c.(1189-1191)Ctc>Atc	p.L397I	NR1I2_ENST00000337940.4_Missense_Mutation_p.L436I|NR1I2_ENST00000466380.1_Missense_Mutation_p.L360I	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	397	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CATGGCTATGCTCACCGAGCT	0.592000													44	91					3.05275e-18	4.26772e-18	0.013114	1	0
MED16	10025	broad.mit.edu	37	19	875330	875330	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:875330G>A	ENST00000312090.6	-	10	1835	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L	MED16_ENST00000325464.1_Missense_Mutation_p.S562L|MED16_ENST00000269814.4_Missense_Mutation_p.S562L|MED16_ENST00000395808.3_Missense_Mutation_p.S562L|MED16_ENST00000589119.1_Missense_Mutation_p.S562L|MED16_ENST00000606828.1_5'UTR			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	562					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGCAGCGACTTCAGGGT	0.627000													23	56					0	0	0.021523	0	0
TNFSF8	944	broad.mit.edu	37	9	117668133	117668133	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:117668133G>C	ENST00000223795.2	-	3	398	c.285C>G	c.(283-285)ttC>ttG	p.F95L		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	95					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ATGACTTCTTGAATGGAGCCC	0.423000													49	185					0	0	0.014410	0	0
C4BPA	722	broad.mit.edu	37	1	207286412	207286412	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:207286412A>C	ENST00000367070.3	+	2	236	c.42A>C	c.(40-42)aaA>aaC	p.K14N		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	14					complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTCATAGAAAAAGGAAAATGG	0.463000													27	29					0	0	0.005443	0	0
TG	7038	broad.mit.edu	37	8	134146952	134146952	+	Missense_Mutation	SNP	G	G	A	rs35054972		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:134146952G>A	ENST00000220616.4	+	48	8261	c.8221G>A	c.(8221-8223)Gaa>Aaa	p.E2741K	TG_ENST00000377869.1_Missense_Mutation_p.E2684K|TG_ENST00000542445.1_Missense_Mutation_p.E1111K|TG_ENST00000519543.1_Missense_Mutation_p.E874K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2741					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGAGAGTGAAGAGGAGGA	0.547000													26	58					0	0	0.005443	0	0
TECR	9524	broad.mit.edu	37	19	14675655	14675655	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:14675655C>G	ENST00000600083.1	+	8	715	c.82C>G	c.(82-84)Ctc>Gtc	p.L28V	TECR_ENST00000215567.5_Missense_Mutation_p.L183V|TECR_ENST00000436007.2_Missense_Mutation_p.L198V|TECR_ENST00000596073.1_Missense_Mutation_p.L28V			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	183					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CAATCACCCTCTCTACACTCC	0.632000													20	127					0	0	0.010504	0	0
SON	6651	broad.mit.edu	37	21	34927545	34927545	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:34927545C>T	ENST00000356577.4	+	3	6483	c.6008C>T	c.(6007-6009)tCt>tTt	p.S2003F	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S2003F|SON_ENST00000290239.6_Missense_Mutation_p.S2003F|SON_ENST00000300278.4_Missense_Mutation_p.S2003F	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2003	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|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						AGATCAAGGTCTGTGGTAAGA	0.607000													25	126					0	0	0.004656	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45679581	45679581	+	Splice_Site	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:45679581A>C	ENST00000310806.4	-	14	3611		c.e14+1			NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1						cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATGAATATTTACCTATTTATA	0.378000													9	27					0	0	0.008291	0	0
LPAR3	23566	broad.mit.edu	37	1	85331077	85331077	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:85331077T>C	ENST00000440886.1	-	1	765	c.727A>G	c.(727-729)Act>Gct	p.T243A	LPAR3_ENST00000370611.3_Missense_Mutation_p.T243A|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	243					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CCTAAGACAGTCATCACCGTC	0.502000													4	18					0	0	0.014758	0	0
CDH1	999	broad.mit.edu	37	16	68835746	68835746	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:68835746A>G	ENST00000261769.5	+	3	528	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.K113E	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	113					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GTTTTCCACCAAAGTCACGCT	0.502000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				14	96					0	0	0.007413	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387587	50387587	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50387587G>A	ENST00000221543.5	+	11	1503	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	TBC1D17_ENST00000535102.2_Missense_Mutation_p.D369N	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	402	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCTGCTGAACGATATCCTCCT	0.662000													64	400					0	0	0.014410	0	0
ZNF483	158399	broad.mit.edu	37	9	114304279	114304279	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:114304279G>C	ENST00000309235.5	+	6	1222	c.1064G>C	c.(1063-1065)gGa>gCa	p.G355A	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	355					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAAACCGCCGGAGAAAAGTCA	0.438000													105	7					0	0	0.014410	0	0
LRRC3	81543	broad.mit.edu	37	21	45876889	45876889	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:45876889C>G	ENST00000291592.4	+	2	679	c.362C>G	c.(361-363)tCt>tGt	p.S121C		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	121						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CTGGACCTGTCTTACAACCGC	0.672000													19	60					0	0	0.014323	0	0
TMC2	117532	broad.mit.edu	37	20	2573052	2573052	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:2573052G>C	ENST00000358864.1	+	8	946	c.931G>C	c.(931-933)Gag>Cag	p.E311Q		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	311						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGGATTTTGAGGTACTATT	0.403000													70	113					0	0	0.014410	0	0
IFFO1	25900	broad.mit.edu	37	12	6664602	6664602	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:6664602C>T	ENST00000336604.4	-	1	635	c.594G>A	c.(592-594)tcG>tcA	p.S198S	IFFO1_ENST00000356896.4_Silent_p.S198S|IFFO1_ENST00000396840.2_Silent_p.S198S	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	198						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGTGCGAGAACGACCAGATGG	0.716000													5	34					0	0	0.014758	0	0
SIDT1	54847	broad.mit.edu	37	3	113327035	113327035	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:113327035G>T	ENST00000264852.4	+	16	2299	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	SIDT1_ENST00000393830.3_Missense_Mutation_p.A525S|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	525						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCATCGGAGAGCCCTGGAAGC	0.542000													26	125					1.64293e-13	2.25903e-13	0.018920	1	0
TRIM56	81844	broad.mit.edu	37	7	100730635	100730635	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:100730635G>A	ENST00000306085.6	+	3	339	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	14					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGAGGCCCTGAGCAGCGACT	0.622000													10	317					0	0	0.008291	0	0
DSCR3	10311	broad.mit.edu	37	21	38612875	38612875	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:38612875C>G	ENST00000309117.6	-	2	360	c.123G>C	c.(121-123)ttG>ttC	p.L41F	DSCR3_ENST00000288304.5_5'UTR|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000539844.1_Missense_Mutation_p.L41F|DSCR3_ENST00000398998.1_Intron|DSCR3_ENST00000476950.1_Missense_Mutation_p.L41F|DSCR3_ENST00000399000.3_5'UTR	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	41					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CTTCCATGGTCAAAGACACTC	0.443000													4	96					0	0	0.014758	0	0
CREB5	9586	broad.mit.edu	37	7	28858828	28858828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:28858828G>T	ENST00000357727.2	+	11	1849	c.1459G>T	c.(1459-1461)Gag>Tag	p.E487*	CREB5_ENST00000396300.2_Nonsense_Mutation_p.E480*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.E454*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.E454*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.E348*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	487					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATCGGTCAGCGAGGTGGTAGG	0.532000													28	107					1.75199e-13	2.40502e-13	0.007291	1	0
EEF1D	1936	broad.mit.edu	37	8	144662724	144662724	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:144662724C>T	ENST00000532741.1	-	6	2040	c.1812G>A	c.(1810-1812)aaG>aaA	p.K604K	EEF1D_ENST00000423316.2_Silent_p.K554K|EEF1D_ENST00000442189.2_Silent_p.K554K|EEF1D_ENST00000526838.1_Silent_p.K169K|EEF1D_ENST00000524624.1_Silent_p.K164K|EEF1D_ENST00000529272.1_Silent_p.K188K|EEF1D_ENST00000531621.1_Silent_p.K145K|EEF1D_ENST00000532400.1_Intron|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000395119.3_Silent_p.K188K|EEF1D_ENST00000317198.6_Silent_p.K188K|EEF1D_ENST00000419152.2_Silent_p.K188K|EEF1D_ENST00000528610.1_Silent_p.K164K			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	188					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTGCAGGCTTCTTGGCCTTCT	0.637000													39	241					0	0	0.006999	0	0
CSPP1	79848	broad.mit.edu	37	8	68076741	68076741	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:68076741C>G	ENST00000262210.5	+	22	2842	c.2811C>G	c.(2809-2811)atC>atG	p.I937M	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.I592M	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	972						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATTCCTATCAGGCAAGTTT	0.368000													30	204					0	0	0.013726	0	0
ETV5	2119	broad.mit.edu	37	3	185798944	185798944	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:185798944G>C	ENST00000306376.5	-	6	499	c.253C>G	c.(253-255)Cca>Gca	p.P85A	ETV5_ENST00000537818.1_Missense_Mutation_p.P127A|ETV5_ENST00000434744.1_Missense_Mutation_p.P85A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	85					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCTTGGTTGGAGGTGGGGCA	0.512000			T	"""TMPRSS2, SCL45A3"""	Prostate								85	104					0	0	0.014410	0	0
USP20	10868	broad.mit.edu	37	9	132637006	132637006	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:132637006C>T	ENST00000315480.4	+	18	2050	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L	USP20_ENST00000358355.1_Missense_Mutation_p.S631L|USP20_ENST00000372429.3_Missense_Mutation_p.S631L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	631					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GACCTCCTCTCGGTCATCTGC	0.647000													49	103					0	0	0.014410	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176232	140176232	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140176232C>T	ENST00000526136.1	+	1	1683	c.1683C>T	c.(1681-1683)aaC>aaT	p.N561N	PCDHA2_ENST00000378132.1_Silent_p.N561N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.N561N|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCGGCAC	0.692000													25	71					0	0	0.006320	0	0
ODF3B	440836	broad.mit.edu	37	22	50969699	50969699	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50969699C>G	ENST00000405135.1	-	3	454	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	ODF3B_ENST00000428989.2_Silent_p.G113G|ODF3B_ENST00000401779.1_Missense_Mutation_p.E90Q|ODF3B_ENST00000329363.4_Silent_p.G113G|ODF3B_ENST00000403326.1_Silent_p.G45G			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	135										lung(2)	2						ACGTCGCGTTCCCCGCTCGCT	0.677000													12	40					0	0	0.016723	0	0
UNC13A	23025	broad.mit.edu	37	19	17735691	17735691	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17735691C>T	ENST00000428389.2	-	36	4407	c.4408G>A	c.(4408-4410)Gtt>Att	p.V1470I	UNC13A_ENST00000252773.7_Missense_Mutation_p.V1382I|UNC13A_ENST00000519716.2_Missense_Mutation_p.V1382I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V1382I|UNC13A_ENST00000550896.1_Missense_Mutation_p.V1380I|UNC13A_ENST00000551649.1_Missense_Mutation_p.V1382I			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1382	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTGTTCATAACCAGCTTCCAC	0.597000													9	44					0	0	0.006214	0	0
KRT38	8687	broad.mit.edu	37	17	39594846	39594846	+	Missense_Mutation	SNP	T	T	G	rs143250758	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:39594846T>G	ENST00000246646.3	-	5	916	c.917A>C	c.(916-918)gAc>gCc	p.D306A		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	306	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCAGGACATGTCCTGCAGGCT	0.632000													20	136					0	0	0.014323	0	0
USH2A	7399	broad.mit.edu	37	1	216052273	216052273	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:216052273T>A	ENST00000366943.2	-	42	8777	c.8391A>T	c.(8389-8391)tcA>tcT	p.S2797S	USH2A_ENST00000307340.3_Silent_p.S2797S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2797	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTACCCCCTGAGCAAGCAA	0.448000										HNSCC(13;0.011)			10	53					0	0	0.010729	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214307	3214307	+	RNA	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:3214307G>C	ENST00000573491.1	-	0	359																											CCGCTCTGCAGAGGGCAGAAA	0.567000													20	76					0	0	0.010504	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|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.S249C(1204)|p.R248_S249del(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)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				22	15					0	0	0.013726	0	0
PALM2	114299	broad.mit.edu	37	9	112642957	112642957	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:112642957C>A	ENST00000448454.2	+	4	259	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	AKAP2_ENST00000510514.5_Missense_Mutation_p.Q85K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q85K|AKAP2_ENST00000555236.1_Missense_Mutation_p.Q85K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q85K|PALM2_ENST00000314527.4_Missense_Mutation_p.Q85K|PALM2_ENST00000483909.1_Missense_Mutation_p.Q85K|PALM2_ENST00000374531.2_Missense_Mutation_p.Q87K					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGATAACATTCAGAGGTAGGT	0.527000													26	18					4.72057e-08	6.30415e-08	0.021523	1	0
CYTH3	9265	broad.mit.edu	37	7	6227347	6227347	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:6227347C>T	ENST00000350796.3	-	3	259	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	41					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TTTCATATTTCAGCCTCTGTC	0.418000													21	87					0	0	0.012319	0	0
DARS2	55157	broad.mit.edu	37	1	173810010	173810010	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:173810010G>C	ENST00000361951.4	+	11	1754	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	343					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCAGATTATAGATATCAGTGA	0.323000													12	175					0	0	0.016723	0	0
SOAT1	6646	broad.mit.edu	37	1	179310346	179310346	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:179310346C>T	ENST00000367619.3	+	7	824	c.681C>T	c.(679-681)ttC>ttT	p.F227F	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Silent_p.F162F|SOAT1_ENST00000540564.1_Silent_p.F169F	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	227					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCTTTCTTTTCATGATCTTCC	0.433000													57	256					0	0	0.014410	0	0
ZER1	10444	broad.mit.edu	37	9	131504994	131504994	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:131504994T>C	ENST00000291900.2	-	9	1796	c.1390A>G	c.(1390-1392)Aac>Gac	p.N464D		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	464					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ATGCTGAAGTTGCAGAGCGTC	0.617000													6	32					0	0	0.001168	0	0
PDGFC	56034	broad.mit.edu	37	4	157684305	157684305	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:157684305G>C	ENST00000502773.1	-	6	1465	c.975C>G	c.(973-975)acC>acG	p.T325T	PDGFC_ENST00000541126.1_Silent_p.T162T|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000542208.1_Silent_p.T170T|PDGFC_ENST00000422544.2_Silent_p.T262T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	325					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGGCCACGTCGGTGAGTGATT	0.527000													10	27					0	0	0.010729	0	0
MAZ	4150	broad.mit.edu	37	16	29820889	29820889	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:29820889C>G	ENST00000219782.6	+	5	1414	c.1308C>G	c.(1306-1308)atC>atG	p.I436M	AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568282.1_Missense_Mutation_p.I37M|MAZ_ENST00000322945.6_Intron|MAZ_ENST00000545521.1_Intron|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000563402.1_Intron|AC009133.14_ENST00000563806.1_RNA	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	207	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ACCTGCGCATCCACGCGGTGA	0.687000													8	67					0	0	0.008291	0	0
HEXB	3074	broad.mit.edu	37	5	74014165	74014165	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:74014165G>C	ENST00000511181.1	+	10	1456	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	HEXB_ENST00000513539.1_3'UTR|HEXB_ENST00000261416.7_Missense_Mutation_p.E407Q			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	407					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGTCTGGCAGGAGGTTTTTGA	0.328000													11	44					0	0	0.020292	0	0
MUC17	140453	broad.mit.edu	37	7	100680758	100680758	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:100680758G>A	ENST00000306151.4	+	3	6125	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2021	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGGCAGTTC	0.517000													67	290					0	0	0.014410	0	0
OSMR	9180	broad.mit.edu	37	5	38917668	38917668	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:38917668G>A	ENST00000274276.3	+	10	1708	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	436	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGCCCCTGATGTCTGGAGAAT	0.408000													22	174					0	0	0.012319	0	0
RRP12	23223	broad.mit.edu	37	10	99160977	99160977	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:99160977C>T	ENST00000370992.4	-	1	123	c.12G>A	c.(10-12)tcG>tcA	p.S4S	RRP12_ENST00000315563.6_Silent_p.S4S|RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000414986.1_Silent_p.S4S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	4						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCAACTTTCCCGAGCGACCCA	0.587000													16	44					0	0	0.006122	0	0
ZNF615	284370	broad.mit.edu	37	19	52507119	52507119	+	Translation_Start_Site	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:52507119T>A	ENST00000602063.1	-	0	195				ZNF615_ENST00000597747.1_De_novo_Start_InFrame|ZNF615_ENST00000391795.3_Intron|ZNF615_ENST00000594083.1_De_novo_Start_InFrame|ZNF615_ENST00000595114.1_5'UTR|ZNF615_ENST00000376716.5_De_novo_Start_InFrame|ZNF615_ENST00000598071.1_De_novo_Start_InFrame			Q8N8J6	ZN615_HUMAN	zinc finger protein 615						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCTCCTTCCTTCACTTGATT	0.428000													4	14					0	0	0.009096	0	0
CHFR	55743	broad.mit.edu	37	12	133428240	133428240	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:133428240C>G	ENST00000266880.7	-	13	1552	c.1489G>C	c.(1489-1491)Gag>Cag	p.E497Q	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.E406Q|CHFR_ENST00000315585.7_Missense_Mutation_p.E457Q|CHFR_ENST00000450056.2_Missense_Mutation_p.E486Q|CHFR_ENST00000537522.1_Missense_Mutation_p.E120Q|CHFR_ENST00000432561.2_Missense_Mutation_p.E498Q			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	498			A -> V (common polymorphism; dbSNP:rs2306541).		cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGCTCGCGCTCCGCTCTCCGG	0.647000													38	181					0	0	0.006230	0	0
DBX1	120237	broad.mit.edu	37	11	20178727	20178727	+	Silent	SNP	C	C	T	rs143300593	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:20178727C>T	ENST00000524983.2	-	3	816	c.528G>A	c.(526-528)ggG>ggA	p.G176G	DBX1_ENST00000227256.3_Silent_p.G176G			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	176					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GCCGAGGCTTCCCGCGCGCGG	0.682000													6	10					0	0	0.001168	0	0
MIIP	60672	broad.mit.edu	37	1	12090089	12090089	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:12090089A>T	ENST00000235332.4	+	8	1019	c.850A>T	c.(850-852)Agc>Tgc	p.S284C	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	284										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCGCAGGGTGAGCATCCCGCT	0.667000													19	83					0	0	0.007413	0	0
GJB7	375519	broad.mit.edu	37	6	87994088	87994088	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:87994088G>A	ENST00000525899.1	-	3	888	c.543C>T	c.(541-543)ctC>ctT	p.L181L	GJB7_ENST00000296882.3_Silent_p.L181L	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	181					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		TGACCAAGAAGAGGATGAAGA	0.398000													12	30					0	0	0.010729	0	0
SACS	26278	broad.mit.edu	37	13	23907016	23907016	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:23907016G>A	ENST00000382298.3	-	10	11587	c.10999C>T	c.(10999-11001)Cat>Tat	p.H3667Y	SACS_ENST00000382292.3_Missense_Mutation_p.H3667Y|SACS_ENST00000402364.1_Missense_Mutation_p.H2917Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3667					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATTGAGGATGAAATCTAATG	0.383000													6	27					0	0	0.001168	0	0
LRRC6	23639	broad.mit.edu	37	8	133645151	133645151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:133645151G>T	ENST00000519595.1	-	5	586	c.488C>A	c.(487-489)tCa>tAa	p.S163*	LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000518642.1_Nonsense_Mutation_p.S163*|LRRC6_ENST00000250173.1_Nonsense_Mutation_p.S163*			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	163						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTCAATTACTGAATAGTCCTG	0.363000													39	89					5.43694e-19	7.61353e-19	0.005524	1	0
BTN3A1	11119	broad.mit.edu	37	6	26413833	26413833	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:26413833C>T	ENST00000289361.6	+	10	1823	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	BTN3A1_ENST00000414912.2_Silent_p.F433F	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	485	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTCATACTTTCCTGGACGTCT	0.463000													29	127					0	0	0.006320	0	0
ZNF337	26152	broad.mit.edu	37	20	25656356	25656356	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:25656356C>T	ENST00000376436.1	-	4	2107	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	ZNF337_ENST00000538750.1_Missense_Mutation_p.R491Q|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R523Q|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAAAGCCTCGCCCACAATC	0.488000													12	156					0	0	0.010729	0	0
WFIKKN1	117166	broad.mit.edu	37	16	683267	683267	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:683267C>T	ENST00000319070.2	+	2	1179	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	286						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CGAGAGCCGGCCAGGGACGCA	0.716000													4	10					0	0	0.009096	0	0
MALAT1	378938	broad.mit.edu	37	11	65271197	65271197	+	RNA	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:65271197C>T	ENST00000534336.1	+	0	5965					NR_002819.2																						TCTAATCTTTCAGAAACTTTG	0.363000													11	61					0	0	0.013537	0	0
DCLK1	9201	broad.mit.edu	37	13	36428670	36428670	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:36428670G>A	ENST00000255448.4	-	6	1212	c.1001C>T	c.(1000-1002)tCa>tTa	p.S334L	DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379893.1_Missense_Mutation_p.S27L|DCLK1_ENST00000360631.3_Missense_Mutation_p.S334L|DCLK1_ENST00000379892.4_Missense_Mutation_p.S334L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	334	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCTGGTGGGTGATGGGCTTGG	0.527000													33	75					0	0	0.017118	0	0
CDC25B	994	broad.mit.edu	37	20	3783805	3783805	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:3783805G>A	ENST00000245960.5	+	13	2005	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	CDC25B_ENST00000379598.5_Silent_p.V345V|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Silent_p.V395V|CDC25B_ENST00000344256.6_Silent_p.V372V|CDC25B_ENST00000439880.2_Silent_p.V422V	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	436	Rhodanese.				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						ATAAGTTTGTGATTGTAGACT	0.547000													29	55					0	0	0.010818	0	0
KLHL38	340359	broad.mit.edu	37	8	124664510	124664510	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:124664510G>C	ENST00000325995.7	-	1	680	c.657C>G	c.(655-657)ttC>ttG	p.F219L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	219	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACCTGCTTGAACAGTTCCT	0.557000													23	155					0	0	0.012319	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40301819	40301819	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:40301819G>C	ENST00000263791.5	+	26	3624	c.3581G>C	c.(3580-3582)aGa>aCa	p.R1194T	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1166T	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1194	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCCCAGGAAAGAAATTACAGT	0.333000													9	28					0	0	0.004482	0	0
RDX	5962	broad.mit.edu	37	11	110128893	110128893	+	Silent	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:110128893T>G	ENST00000343115.4	-	6	808	c.489A>C	c.(487-489)ctA>ctC	p.L163L	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Silent_p.L163L|RDX_ENST00000544551.1_Silent_p.L27L|RDX_ENST00000530301.1_Silent_p.L131L|RDX_ENST00000405097.1_Silent_p.L163L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	163	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTTCTTTTGTTAGTTTGTGTT	0.294000													9	34					0	0	0.008291	0	0
SRCAP	10847	broad.mit.edu	37	16	30750254	30750254	+	Missense_Mutation	SNP	C	C	T	rs141497857		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:30750254C>T	ENST00000262518.4	+	34	9278	c.8893C>T	c.(8893-8895)Cgg>Tgg	p.R2965W	SRCAP_ENST00000344771.4_Missense_Mutation_p.R2807W|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2903W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2965	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCCGAAAGTCGGACACAGCC	0.572000													22	111					0	0	0.014323	0	0
DOCK3	1795	broad.mit.edu	37	3	51112865	51112865	+	Silent	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:51112865T>C	ENST00000266037.9	+	7	566	c.543T>C	c.(541-543)taT>taC	p.Y181Y		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	181						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGATCTCTATAAGATGGTAA	0.393000													8	0					0	0	0.003080	0	0
C2orf16	84226	broad.mit.edu	37	2	27804486	27804486	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:27804486G>C	ENST00000408964.2	+	1	5098	c.5047G>C	c.(5047-5049)Gag>Cag	p.E1683Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1683	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CGGTCCCTCAGAGAGAAGCCA	0.567000													11	342					0	0	0.010729	0	0
UNC5A	90249	broad.mit.edu	37	5	176304243	176304243	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176304243G>A	ENST00000329542.4	+	9	1703	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	UNC5A_ENST00000261961.3_Missense_Mutation_p.E437K	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	477	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.E477K(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGATCTATGAGATCTACCT	0.642000													23	45					0	0	0.021523	0	0
RIC3	79608	broad.mit.edu	37	11	8132430	8132430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:8132430C>A	ENST00000396677.2	-	3	438	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	RIC3_ENST00000539720.1_Nonsense_Mutation_p.E260*|RIC3_ENST00000425599.2_Nonsense_Mutation_p.E228*|RIC3_ENST00000343202.4_Nonsense_Mutation_p.E308*|RIC3_ENST00000335425.7_Nonsense_Mutation_p.E127*|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Nonsense_Mutation_p.E309*			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	309						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCCTCGTCTTCATGAAAACAG	0.493000													36	78					1.60099e-16	2.2233e-16	0.021022	1	0
VPS51	738	broad.mit.edu	37	11	64875784	64875784	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:64875784G>C	ENST00000279281.3	+	5	933	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		CGGCCGGCTGGAGAAGGAGCT	0.706000													8	45					0	0	0.004482	0	0
ERP27	121506	broad.mit.edu	37	12	15073907	15073907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:15073907C>A	ENST00000266397.2	-	4	982	c.409G>T	c.(409-411)Gag>Tag	p.E137*	ERP27_ENST00000540097.1_Nonsense_Mutation_p.E36*	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	137	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CTGTTGATCTCAATGAAACGG	0.438000													5	65					0.000602214	0.000762805	0.014758	1	0
OCEL1	79629	broad.mit.edu	37	19	17337908	17337908	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17337908G>A	ENST00000215061.4	+	3	396	c.352G>A	c.(352-354)Gat>Aat	p.D118N	OCEL1_ENST00000597836.1_Missense_Mutation_p.D62N|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.D118N	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	118										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TGTGTTTGAGGATGAGTTGCT	0.642000													6	171					0	0	0.001984	0	0
ZNF148	7707	broad.mit.edu	37	3	124951899	124951899	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:124951899C>G	ENST00000360647.4	-	9	2156	c.1671G>C	c.(1669-1671)gaG>gaC	p.E557D	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.E557D|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.E557D|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.E557D	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	557					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGAAGGATATCTCATGCTGTC	0.398000													8	44					0	0	0.004482	0	0
SSH2	85464	broad.mit.edu	37	17	27999021	27999021	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27999021G>A	ENST00000269033.3	-	8	811	c.660C>T	c.(658-660)gtC>gtT	p.V220V	SSH2_ENST00000540801.1_Silent_p.V247V|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	220					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCATTCATTGACTGAGGATT	0.468000													10	187					0	0	0.013537	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229336	140229336	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140229336C>T	ENST00000378122.3	+	1	1980	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S419F|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGTGTGTCCGCCTACGAG	0.637000													33	101					0	0	0.012213	0	0
PDE6B	5158	broad.mit.edu	37	4	628477	628477	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:628477C>T	ENST00000255622.6	+	2	523	c.480C>T	c.(478-480)ttC>ttT	p.F160F	PDE6B_ENST00000496514.1_Silent_p.F160F	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	160	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCCCTCACTTCAGCTCATTTG	0.567000													35	76					0	0	0.005524	0	0
CIRBP	1153	broad.mit.edu	37	19	1271019	1271019	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:1271019C>T	ENST00000444172.2	+	2	169	c.35C>T	c.(34-36)aCg>aTg	p.T12M	CIRBP_ENST00000585630.1_Silent_p.Y29Y|CIRBP_ENST00000587896.1_Silent_p.Y29Y|CIRBP_ENST00000589235.1_Silent_p.Y29Y|CIRBP_ENST00000588090.1_Silent_p.Y29Y|CIRBP_ENST00000586472.1_Silent_p.Y29Y|CIRBP_ENST00000320936.5_Silent_p.Y29Y|CIRBP_ENST00000591935.1_Silent_p.Y29Y|CIRBP_ENST00000586773.1_Silent_p.Y29Y|CIRBP_ENST00000413636.2_Silent_p.Y29Y|CIRBP_ENST00000589660.1_Silent_p.Y29Y|CIRBP_ENST00000587323.1_Silent_p.Y29Y|CIRBP_ENST00000588030.1_Silent_p.Y29Y|CIRBP_ENST00000589686.1_Silent_p.Y29Y|CIRBP_ENST00000588230.1_Silent_p.Y29Y|CIRBP_ENST00000589710.1_Silent_p.Y29Y			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	0	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCAAAGTACGGACAGATCT	0.592000													41	159					0	0	0.008740	0	0
GOLGA2	2801	broad.mit.edu	37	9	131020315	131020315	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:131020315C>A	ENST00000421699.2	-	22	2383	c.2371G>T	c.(2371-2373)Gat>Tat	p.D791Y	GOLGA2_ENST00000609374.1_Missense_Mutation_p.D779Y	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	791						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CACACAGAATCACCCCCGGTC	0.687000													41	63					5.20837e-25	7.35506e-25	0.008740	1	0
POLQ	10721	broad.mit.edu	37	3	121209029	121209029	+	Missense_Mutation	SNP	C	C	T	rs149007312	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:121209029C>T	ENST00000264233.5	-	16	2877	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	917					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCTTTACTTCGGACTCACTA	0.338000								DNA polymerases (catalytic subunits)					42	46					0	0	0.007835	0	0
TARBP2	6895	broad.mit.edu	37	12	53899548	53899548	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:53899548C>G	ENST00000266987.2	+	8	1340	c.857C>G	c.(856-858)tCc>tGc	p.S286C	TARBP2_ENST00000394357.2_Missense_Mutation_p.S265C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S265C|TARBP2_ENST00000552857.1_Silent_p.L152L	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	286	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCCTGGGCTCCCTGGGTGCC	0.597000													34	123					0	0	0.019004	0	0
BRPF1	7862	broad.mit.edu	37	3	9783835	9783835	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:9783835G>A	ENST00000383829.2	+	6	2385	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	BRPF1_ENST00000302054.3_Missense_Mutation_p.E661K|BRPF1_ENST00000433861.2_Missense_Mutation_p.E661K|BRPF1_ENST00000424362.1_Missense_Mutation_p.E661K|BRPF1_ENST00000457855.1_Missense_Mutation_p.E661K	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	660	Bromo.|Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCCTCTGTCTGAGGTAACCGA	0.557000													21	89					0	0	0.014323	0	0
LCA5L	150082	broad.mit.edu	37	21	40800153	40800153	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:40800153C>T	ENST00000358268.2	-	4	795	c.267G>A	c.(265-267)gtG>gtA	p.V89V	LCA5L_ENST00000380671.2_Silent_p.V89V|LCA5L_ENST00000485895.2_Silent_p.V89V|LCA5L_ENST00000288350.3_Silent_p.V89V			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	89										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTCTTTTACCACAGGCTGCT	0.323000													54	107					0	0	0.014410	0	0
DMD	1756	broad.mit.edu	37	X	32429985	32429985	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:32429985G>T	ENST00000357033.4	-	30	4323	c.4117C>A	c.(4117-4119)Cag>Aag	p.Q1373K	DMD_ENST00000378677.2_Missense_Mutation_p.Q1369K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1373					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGTCTCCTGGGCAGACTGG	0.418000													7	8					5.18039e-06	6.79876e-06	0.003080	1	0
L3MBTL2	83746	broad.mit.edu	37	22	41625593	41625593	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:41625593G>A	ENST00000216237.5	+	16	2096	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	646					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGGTCCAAGAAGCCCCTGC	0.557000													15	40					0	0	0.020292	0	0
CENPI	2491	broad.mit.edu	37	X	100382569	100382569	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:100382569C>G	ENST00000372927.1	+	10	1266	c.989C>G	c.(988-990)tCt>tGt	p.S330C	CENPI_ENST00000372926.1_Missense_Mutation_p.S330C|CENPI_ENST00000423383.1_Missense_Mutation_p.S330C|CENPI_ENST00000218507.5_Missense_Mutation_p.S330C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	330					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						ATGAGTCTTTCTGATTGTCTG	0.378000													5	50					0	0	0.014758	0	0
NMT1	4836	broad.mit.edu	37	17	43138785	43138785	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:43138785T>C	ENST00000592782.1	+	2	219	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.C30R			P30419	NMT1_HUMAN	N-myristoyltransferase 1	30					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CCATGAGCACTGCAGCGATTG	0.602000													58	16					0	0	0.014410	0	0
RPL11	6135	broad.mit.edu	37	1	24021260	24021260	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:24021260C>G	ENST00000374550.3	+	4	420	c.375C>G	c.(373-375)atC>atG	p.I125M	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	125					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCATTGGTATCTACGGCCTGG	0.403000													78	69					0	0	0.014410	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580694	35580694	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:35580694C>A	ENST00000373330.1	+	11	3437	c.3263C>A	c.(3262-3264)tCt>tAt	p.S1088Y	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S1088Y			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1088						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACTCATTTTCTACCCTGCCT	0.398000													25	107					3.08376e-08	4.12484e-08	0.018920	1	0
PARVB	29780	broad.mit.edu	37	22	44514968	44514968	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:44514968G>A	ENST00000338758.7	+	4	387	c.324G>A	c.(322-324)gtG>gtA	p.V108V	PARVB_ENST00000406477.3_Silent_p.V141V|PARVB_ENST00000404989.1_Silent_p.V71V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta		CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGATCATTGTGAAGCAGCTGG	0.587000													48	149					0	0	0.014410	0	0
PHTF2	57157	broad.mit.edu	37	7	77549772	77549772	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:77549772G>C	ENST00000416283.2	+	8	977	c.851G>C	c.(850-852)gGt>gCt	p.G284A	PHTF2_ENST00000422959.2_Missense_Mutation_p.G284A|PHTF2_ENST00000424760.1_Missense_Mutation_p.G280A|PHTF2_ENST00000307305.8_Missense_Mutation_p.G280A|PHTF2_ENST00000275575.7_Missense_Mutation_p.G280A|PHTF2_ENST00000248550.7_Missense_Mutation_p.G318A|PHTF2_ENST00000415251.2_Missense_Mutation_p.G280A|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000450574.1_Missense_Mutation_p.G284A	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CTGAGGAATGGTCCTAGCAAA	0.383000													35	23					0	0	0.021022	0	0
C11orf74	119710	broad.mit.edu	37	11	36654908	36654908	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:36654908C>T	ENST00000446510.2	+	3	310	c.211C>T	c.(211-213)Cat>Tat	p.H71Y	C11orf74_ENST00000347206.4_Intron|C11orf74_ENST00000534635.1_Intron|C11orf74_ENST00000334307.5_Missense_Mutation_p.H71Y			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	71										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAAAGTTACTCATAAAAATGA	0.338000													5	24					0	0	0.001168	0	0
TGFBR3	7049	broad.mit.edu	37	1	92178024	92178024	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:92178024C>G	ENST00000212355.4	-	13	2407	c.1942G>C	c.(1942-1944)Gat>Cat	p.D648H	TGFBR3_ENST00000525962.1_Missense_Mutation_p.D648H|TGFBR3_ENST00000370399.2_Missense_Mutation_p.D647H	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	648	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GACATCCTATCAGGGTTCGAA	0.393000													12	59					0	0	0.013537	0	0
ZNF696	79943	broad.mit.edu	37	8	144378379	144378379	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:144378379G>A	ENST00000330143.3	+	3	943	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACAGCGGGGAGAGGCCCTACG	0.697000													7	36					0	0	0.003080	0	0
CLP1	10978	broad.mit.edu	37	11	57427259	57427259	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:57427259G>A	ENST00000533682.1	+	2	1036	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	CLP1_ENST00000525602.1_Missense_Mutation_p.R104Q|CLP1_ENST00000529430.1_Missense_Mutation_p.R115Q|CLP1_ENST00000302731.4_Missense_Mutation_p.R104Q			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	104					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GAACAGATGCGGAGGCAAGCG	0.547000													27	61					0	0	0.021523	0	0
PREX1	57580	broad.mit.edu	37	20	47274684	47274684	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:47274684G>A	ENST00000396220.1	-	17	1986	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	PREX1_ENST00000371941.3_Missense_Mutation_p.S655L			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	655	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCAGCCAGCGAGCCCCTCTG	0.657000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	294	562					0	0	0.014410	0	0
ASF1B	55723	broad.mit.edu	37	19	14231399	14231399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:14231399C>A	ENST00000263382.3	-	4	980	c.481G>T	c.(481-483)Gag>Tag	p.E161*	ASF1B_ENST00000592798.1_Nonsense_Mutation_p.E102*	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	161					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TCTATGGCCTCCAGCCTGTCC	0.632000													15	39					0.000422831	0.000538852	0.004007	1	0
COPS4	51138	broad.mit.edu	37	4	83984325	83984325	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:83984325G>A	ENST00000509093.1	+	7	1590	c.812G>A	c.(811-813)aGg>aAg	p.R271K	COPS4_ENST00000264389.2_Missense_Mutation_p.R271K|COPS4_ENST00000503682.1_Missense_Mutation_p.R271K|COPS4_ENST00000511653.1_Missense_Mutation_p.R271K	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	271	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TATCTAGATAGGATCATCAGA	0.428000													20	45					0	0	0.007413	0	0
SLC24A5	283652	broad.mit.edu	37	15	48434351	48434351	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:48434351A>G	ENST00000341459.3	+	9	1379	c.1306A>G	c.(1306-1308)Aga>Gga	p.R436G	SLC24A5_ENST00000449382.2_Missense_Mutation_p.R376G|MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	436					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		AGTAAACAGCAGAGGACTAAC	0.363000													16	37					0	0	0.003163	0	0
AADACL3	126767	broad.mit.edu	37	1	12785550	12785550	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:12785550G>A	ENST00000332530.3	+	3	656	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	AADACL3_ENST00000359318.5_Missense_Mutation_p.A214T	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	214							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATGAAAGGTGCCCATTTGCC	0.483000													76	61					0	0	0.014410	0	0
BUD13	84811	broad.mit.edu	37	11	116633707	116633707	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:116633707G>A	ENST00000260210.4	-	4	621	c.598C>T	c.(598-600)Cct>Tct	p.P200S	BUD13_ENST00000375445.3_Missense_Mutation_p.P200S	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	200	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGGGAGAAGGATCTGGAGAA	0.567000													38	115					0	0	0.005524	0	0
ORMDL3	94103	broad.mit.edu	37	17	38080454	38080454	+	Translation_Start_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:38080454C>T	ENST00000394169.1	-	4	1497	c.3G>A	c.(1-3)atG>atA	p.M1I	ORMDL3_ENST00000579695.1_Start_Codon_SNP_p.M1I|ORMDL3_ENST00000584220.1_Start_Codon_SNP_p.M1I|ORMDL3_ENST00000304046.2_Start_Codon_SNP_p.M1I			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	1					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			TGCCCACATTCATCCTGCTGC	0.617000													15	119					0	0	0.004007	0	0
DEF6	50619	broad.mit.edu	37	6	35265694	35265694	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:35265694G>C	ENST00000316637.5	+	1	66	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	21						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GCTGGACGTGGAGAAGAGTGG	0.672000													8	37					0	0	0.004482	0	0
GNAS	2778	broad.mit.edu	37	20	57429712	57429712	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:57429712T>A	ENST00000371100.4	+	1	1944	c.1392T>A	c.(1390-1392)gaT>gaA	p.D464E	GNAS_ENST00000371102.4_Missense_Mutation_p.D464E|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.I401N|GNAS_ENST00000371099.2_Missense_Mutation_p.D464E	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCAGCCGATCCAGATGCCG	0.796000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			7	3					0	0	0.001984	0	0
PIGG	54872	broad.mit.edu	37	4	494383	494383	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:494383G>A	ENST00000453061.2	+	2	459	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	PIGG_ENST00000509768.1_Missense_Mutation_p.R29Q|PIGG_ENST00000503111.1_Missense_Mutation_p.R29Q|PIGG_ENST00000383028.4_Missense_Mutation_p.R118Q|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.R29Q|PIGG_ENST00000296306.7_Missense_Mutation_p.R29Q|PIGG_ENST00000310340.5_Missense_Mutation_p.R118Q|PIGG_ENST00000536264.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	118					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ACTATGCCTCGAATCAAGGTA	0.408000													23	18					0	0	0.018920	0	0
TTLL7	79739	broad.mit.edu	37	1	84335732	84335732	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:84335732C>G	ENST00000260505.8	-	21	2954	c.2577G>C	c.(2575-2577)ttG>ttC	p.L859F	TTLL7_ENST00000477524.1_Intron	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	859					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTGGTGTTCTCAAGAAGAATT	0.368000													15	12					0	0	0.020292	0	0
IL18R1	8809	broad.mit.edu	37	2	102984374	102984374	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:102984374G>A	ENST00000409599.1	+	4	504	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E50K|IL18R1_ENST00000334376.3_Missense_Mutation_p.E50K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	50	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.E50K(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACATGAGATTGAAACAACCAC	0.428000													4	45					0	0	0.009096	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399636	89399636	+	RNA	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:89399636C>G	ENST00000479981.1	-	0	93																											ATCTGGATGTCACATCTGGCA	0.443000													68	63					0	0	0.014410	0	0
PRMT8	56341	broad.mit.edu	37	12	3649850	3649850	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:3649850C>G	ENST00000382622.3	+	2	544	c.154C>G	c.(154-156)Caa>Gaa	p.Q52E	PRMT8_ENST00000452611.2_Missense_Mutation_p.Q43E|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	52					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGTGTCCACTCAACCCAGCTG	0.602000													54	339					0	0	0.014410	0	0
AGO4	192670	broad.mit.edu	37	1	36298149	36298149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:36298149C>T	ENST00000373210.3	+	11	1602	c.1357C>T	c.(1357-1359)Caa>Taa	p.Q453*		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		ACCTCAGAAACAATGTAGGGA	0.398000													26	75					0	0	0.005443	0	0
PCK1	5105	broad.mit.edu	37	20	56136482	56136482	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:56136482G>A	ENST00000319441.4	+	2	179	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	5					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTCCTCAGCTGCAAAACGGCC	0.527000													38	227					0	0	0.010771	0	0
LRRC7	57554	broad.mit.edu	37	1	70504754	70504754	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:70504754G>A	ENST00000310961.5	+	22	3566	c.3148G>A	c.(3148-3150)Gaa>Aaa	p.E1050K	LRRC7_ENST00000415775.2_Missense_Mutation_p.E329K|LRRC7_ENST00000035383.5_Missense_Mutation_p.E1045K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1045						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTGAAAGCCGAAAAGAGGAT	0.438000													11	33					0	0	0.010729	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793480	140793480	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140793480C>T	ENST00000398610.2	+	1	738	c.738C>T	c.(736-738)ttC>ttT	p.F246F	PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCGGTCTTCACCTTGCCAG	0.582000													9	34					0	0	0.008291	0	0
CCDC167	154467	broad.mit.edu	37	6	37451064	37451064	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:37451064C>T	ENST00000373408.3	-	4	250	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_138493.2	NP_612502.1	Q9P0B6	CF129_HUMAN	coiled-coil domain containing 167	64						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						TCAGTTCCTTCTCTGGGAGGA	0.532000													6	74					0	0	0.001168	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183097	167183097	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:167183097C>G	ENST00000476257.1	-	6	1061	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	SERPINI2_ENST00000264677.4_Missense_Mutation_p.E255Q|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E255Q|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E255Q			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	255					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCCATACCTTCTGCAGGAAGT	0.358000													11	102					0	0	0.010729	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268732	1268732	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:1268732G>A	ENST00000339381.5	+	5	1605	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	525					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.E525K(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGTGGACTGCGAGGCGGGCAG	0.692000													7	21					0	0	0.001984	0	0
CABIN1	23523	broad.mit.edu	37	22	24439456	24439456	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:24439456G>A	ENST00000398319.2	+	6	821	c.436G>A	c.(436-438)Gct>Act	p.A146T	CABIN1_ENST00000263119.5_Missense_Mutation_p.A146T|CABIN1_ENST00000405822.2_Missense_Mutation_p.A146T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	146					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGCTCGCCATGCTTTTGAGGA	0.537000													22	83					0	0	0.014323	0	0
RPL28	6158	broad.mit.edu	37	19	55897738	55897738	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:55897738C>G	ENST00000344063.2	+	2	642	c.13C>G	c.(13-15)Ctg>Gtg	p.L5V	RPL28_ENST00000560583.1_Missense_Mutation_p.L5V|RPL28_ENST00000558131.1_Missense_Mutation_p.L5V|RPL28_ENST00000558815.1_Missense_Mutation_p.L5V|RPL28_ENST00000458349.2_Missense_Mutation_p.L5V|RPL28_ENST00000559463.1_Missense_Mutation_p.L5V|RPL28_ENST00000560055.1_Missense_Mutation_p.L5V|RPL28_ENST00000558752.1_Missense_Mutation_p.L5V|RPL28_ENST00000428193.2_Missense_Mutation_p.L5V|RPL28_ENST00000431533.2_Missense_Mutation_p.L5V			P46779	RL28_HUMAN	ribosomal protein L28	5					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTCTGCGCATCTGCAATGGAT	0.607000													17	50					0	0	0.004990	0	0
PYGM	5837	broad.mit.edu	37	11	64522956	64522956	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:64522956C>A	ENST00000164139.3	-	6	1133	c.735G>T	c.(733-735)tgG>tgT	p.W245C	PYGM_ENST00000377432.3_Missense_Mutation_p.W157C	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	245					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCTTGGCAGACCAGAGGCGCA	0.622000													12	85					9.31168e-06	1.21444e-05	0.016723	1	0
CNBD2	140894	broad.mit.edu	37	20	34596337	34596337	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:34596337C>T	ENST00000373973.3	+	9	1262	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	CNBD2_ENST00000538900.1_Silent_p.F363F|CNBD2_ENST00000349339.1_Silent_p.F363F					cyclic nucleotide binding domain containing 2																		GGACAAGCTTCAGCAGGAAGA	0.502000													13	147					0	0	0.016723	0	0
UGGT1	56886	broad.mit.edu	37	2	128913070	128913070	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:128913070C>T	ENST00000375990.3	+	20	2476	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	UGGT1_ENST00000259253.6_Silent_p.F715F			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	715					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGATAACTTCTTTGTGGATG	0.323000													6	42					0	0	0.001168	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703933	60703933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:60703933C>T	ENST00000005286.4	+	11	2782	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	TMEM132A_ENST00000453848.2_Nonsense_Mutation_p.Q876*	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	876	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.Q877E(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGCGCTATCAGCGCAAAGA	0.607000													55	233					0	0	0.014410	0	0
AURKC	6795	broad.mit.edu	37	19	57744973	57744973	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:57744973T>A	ENST00000302804.7	+	5	767	c.581T>A	c.(580-582)cTg>cAg	p.L194Q	AURKC_ENST00000599062.1_Missense_Mutation_p.L191Q|AURKC_ENST00000598785.1_Missense_Mutation_p.L160Q|AURKC_ENST00000448930.1_Missense_Mutation_p.L160Q|AURKC_ENST00000415300.2_Missense_Mutation_p.L175Q	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	194	Protein kinase.			SLR -> LPE (in Ref. 2; AAC77369).	cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACCCCCTCCCTGAGGTAGGTC	0.483000													27	144					0	0	0.005443	0	0
C16orf78	123970	broad.mit.edu	37	16	49433094	49433094	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:49433094G>A	ENST00000299191.3	+	5	820	c.703G>A	c.(703-705)Gat>Aat	p.D235N		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	235										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GTTGTGCAAGGATGCAGGAAT	0.478000													23	101					0	0	0.016522	0	0
DDX42	11325	broad.mit.edu	37	17	61895172	61895172	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:61895172C>T	ENST00000578681.1	+	19	2832	c.2231C>T	c.(2230-2232)tCa>tTa	p.S744L	DDX42_ENST00000583590.1_Missense_Mutation_p.S744L|DDX42_ENST00000359353.5_Missense_Mutation_p.S625L|DDX42_ENST00000457800.2_Missense_Mutation_p.S744L|DDX42_ENST00000389924.2_Missense_Mutation_p.S744L|DDX42_ENST00000582985.1_Intron	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	744	Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCAACTAACTCAGCACAACAG	0.542000													86	43					0	0	0.014410	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520585	72520585	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:72520585C>T	ENST00000373208.1	+	22	3657	c.3657C>T	c.(3655-3657)ctC>ctT	p.L1219L	ADAMTS14_ENST00000373207.1_Silent_p.L1216L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1216	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCACCAGCCTCCCTGCTGCCT	0.637000													18	23					0	0	0.006122	0	0
ARTN	9048	broad.mit.edu	37	1	44401702	44401702	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:44401702C>T	ENST00000438616.3	+	1	224	c.49C>T	c.(49-51)Cct>Tct	p.P17S	ARTN_ENST00000479128.1_Intron|ARTN_ENST00000414809.3_Intron|ARTN_ENST00000372354.3_Intron|ARTN_ENST00000498139.2_Intron|ARTN_ENST00000372359.5_Intron|ARTN_ENST00000472435.1_Intron			Q5T4W7	ARTN_HUMAN	artemin	0					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGAGGTCCTTCCTCCCCAAGC	0.652000													29	32					0	0	0.007291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460594	110460594	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:110460594A>C	ENST00000378402.5	+	39	6103	c.5999A>C	c.(5998-6000)aAt>aCt	p.N2000T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2000	IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCCGCTTAATATTCAAAAT	0.373000										HNSCC(38;0.096)			5	46					0	0	0.014758	0	0
SLC9A4	389015	broad.mit.edu	37	2	103119941	103119941	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:103119941T>G	ENST00000295269.4	+	3	1212	c.755T>G	c.(754-756)aTg>aGg	p.M252R		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	252					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTTACAAAGATGCATAAATTT	0.373000													5	31					0	0	0.014758	0	0
ZBTB49	166793	broad.mit.edu	37	4	4314802	4314802	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:4314802C>G	ENST00000337872.4	+	5	1458	c.1337C>G	c.(1336-1338)tCt>tGt	p.S446C	ZBTB49_ENST00000538529.1_Intron|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CGACGGCATTCTGGTGAAAAA	0.413000													19	47					0	0	0.018920	0	0
GGA3	23163	broad.mit.edu	37	17	73242646	73242646	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:73242646G>T	ENST00000245541.6	-	3	361	c.145C>A	c.(145-147)Ctg>Atg	p.L49M	GGA3_ENST00000579743.1_5'UTR|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000582717.1_De_novo_Start_InFrame|GGA3_ENST00000578348.1_De_novo_Start_InFrame|GGA3_ENST00000582486.1_De_novo_Start_InFrame|GGA3_ENST00000351904.7_Missense_Mutation_p.L49M|GGA3_ENST00000537686.1_Missense_Mutation_p.L49M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	49	Binds to ARF1 (in long isoform).|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGGGCCAGCAGTCGGACGGCG	0.637000													15	77					6.94344e-10	9.39275e-10	0.006122	1	0
PAIP2B	400961	broad.mit.edu	37	2	71415650	71415650	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:71415650T>C	ENST00000244221.8	-	4	497	c.331A>G	c.(331-333)Aac>Gac	p.N111D		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	111					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						GCATCTGGGTTCAGGTTACTT	0.433000													3	21					0	0	0.004672	0	0
CHST8	64377	broad.mit.edu	37	19	34263476	34263476	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:34263476C>G	ENST00000262622.4	+	4	1541	c.783C>G	c.(781-783)ttC>ttG	p.F261L	CHST8_ENST00000434302.1_Missense_Mutation_p.F261L|CHST8_ENST00000438847.3_Missense_Mutation_p.F261L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCGAGCCCTTCGAGAGGCTGG	0.612000													18	191					0	0	0.007413	0	0
FCAMR	83953	broad.mit.edu	37	1	207135777	207135777	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:207135777G>A	ENST00000324852.4	-	5	907	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	FCAMR_ENST00000400962.3_Silent_p.L145L|FCAMR_ENST00000450945.2_Silent_p.L145L	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	100	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGGGGCCCCAGACGGCACCAG	0.577000													15	61					0	0	0.004007	0	0
SRC	6714	broad.mit.edu	37	20	36030892	36030892	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:36030892C>T	ENST00000373578.2	+	12	1520	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	SRC_ENST00000477066.1_3'UTR|SRC_ENST00000358208.4_Missense_Mutation_p.R391C|SRC_ENST00000360723.4_Missense_Mutation_p.R397C|SRC_ENST00000373558.2_Missense_Mutation_p.R397C|SRC_ENST00000373567.2_Missense_Mutation_p.R391C|SRC_ENST00000445403.1_Missense_Mutation_p.R391C	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	391	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CCGGGACCTTCGTGCAGCCAA	0.627000													6	112					0	0	0.001168	0	0
VEGFC	7424	broad.mit.edu	37	4	177608517	177608517	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:177608517G>C	ENST00000280193.2	-	6	1384	c.969C>G	c.(967-969)ctC>ctG	p.L323L	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	323	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCTGGGGAAGAGTTTGTTTT	0.502000													28	75					0	0	0.010818	0	0
TSC2	7249	broad.mit.edu	37	16	2110796	2110796	+	Silent	SNP	G	G	A	rs45517149		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:2110796G>A	ENST00000219476.3	+	11	1731	c.1101G>A	c.(1099-1101)cgG>cgA	p.R367R	TSC2_ENST00000439673.2_Silent_p.R330R|TSC2_ENST00000568454.1_Silent_p.R378R|TSC2_ENST00000350773.4_Silent_p.R367R|TSC2_ENST00000401874.2_Silent_p.R367R|TSC2_ENST00000382538.6_Silent_p.R318R|TSC2_ENST00000353929.4_Silent_p.R367R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	367	Required for interaction with TSC1.		R -> Q (in dbSNP:rs1800725).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCATCGAACGGCTCCTTCAGC	0.602000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				24	35					0	0	0.014323	0	0
VPS13C	54832	broad.mit.edu	37	15	62219320	62219320	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:62219320G>C	ENST00000261517.5	-	52	6559	c.6486C>G	c.(6484-6486)ctC>ctG	p.L2162L	VPS13C_ENST00000395898.3_Silent_p.L2119L|VPS13C_ENST00000249837.3_Silent_p.L2119L|VPS13C_ENST00000395896.4_Silent_p.L2162L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2162					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTTTCTCTGAGAAAAGGGC	0.423000													34	71					0	0	0.017118	0	0
DIS3	22894	broad.mit.edu	37	13	73334745	73334745	+	Silent	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:73334745A>G	ENST00000377767.4	-	20	2815	c.2715T>C	c.(2713-2715)gaT>gaC	p.D905D	DIS3_ENST00000377780.4_Silent_p.D875D|DIS3_ENST00000545453.1_Silent_p.D743D	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	905					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTTAACTTTATCAAATACAT	0.328000										Multiple Myeloma(4;0.011)			9	36					0	0	0.004482	0	0
TES	26136	broad.mit.edu	37	7	115889220	115889220	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:115889220A>G	ENST00000358204.4	+	3	475	c.260A>G	c.(259-261)tAt>tGt	p.Y87C	TES_ENST00000485009.1_3'UTR|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Intron|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.Y78C	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	87					negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATTCCCATGTATAAACGCAAT	0.403000													25	37					0	0	0.005443	0	0
EZH2	2146	broad.mit.edu	37	7	148526869	148526869	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:148526869G>A	ENST00000320356.2	-	5	556	c.435C>T	c.(433-435)ttC>ttT	p.F145F	EZH2_ENST00000476773.1_Silent_p.F136F|EZH2_ENST00000541220.1_Silent_p.F136F|EZH2_ENST00000483967.1_Silent_p.F136F|EZH2_ENST00000350995.2_Silent_p.F106F|EZH2_ENST00000478654.1_Silent_p.F136F|EZH2_ENST00000536783.1_Silent_p.F36F|EZH2_ENST00000460911.1_Silent_p.F145F	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	145	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.F145L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GTTCTTCAATGAAAGTACCAT	0.333000			Mis		DLBCL								12	59					0	0	0.010729	0	0
OR6C68	403284	broad.mit.edu	37	12	55886710	55886710	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:55886710G>A	ENST00000379662.1	+	1	564	c.564G>A	c.(562-564)ctG>ctA	p.L188L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Silent_p.L183L|RP11-110A12.2_ENST00000554049.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TGCCTATTCTGAAAATACCAT	0.378000													8	33					0	0	0.008291	0	0
FAM126A	84668	broad.mit.edu	37	7	23030703	23030703	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:23030703C>T	ENST00000432176.2	-	2	260	c.28G>A	c.(28-30)Gag>Aag	p.E10K	FAM126A_ENST00000409923.1_Missense_Mutation_p.E10K|FAM126A_ENST00000409763.1_Missense_Mutation_p.E10K	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	10						cytoplasm|membrane	signal transducer activity	p.E10Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						AACCATTCCTCCACAACCCCT	0.303000													9	32					0	0	0.010729	0	0
DYRK2	8445	broad.mit.edu	37	12	68052281	68052281	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:68052281C>T	ENST00000344096.3	+	3	2007	c.1594C>T	c.(1594-1596)Cac>Tac	p.H532Y	DYRK2_ENST00000393555.3_Missense_Mutation_p.H459Y	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	532	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GGCTTTGCGGCACCCCTGGCT	0.547000													16	447					0	0	0.004007	0	0
RNF40	9810	broad.mit.edu	37	16	30780185	30780185	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:30780185G>A	ENST00000324685.6	+	15	2559	c.2124G>A	c.(2122-2124)cgG>cgA	p.R708R	RNF40_ENST00000402121.3_Silent_p.R400R|RNF40_ENST00000563683.1_Silent_p.R668R|RNF40_ENST00000357890.5_Silent_p.R608R	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	708					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCCGCATCCGGGAATTGGAGG	0.562000													58	147					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179579153	179579153	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179579153A>G	ENST00000589042.1	-	91	26572	c.26348T>C	c.(26347-26349)aTa>aCa	p.I8783T	TTN_ENST00000342992.6_Missense_Mutation_p.I7539T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I8466T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8466	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAATCCATATGTTGTCACT	0.413000													17	23					0	0	0.004007	0	0
DAGLA	747	broad.mit.edu	37	11	61511216	61511216	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:61511216G>A	ENST00000257215.5	+	20	2500	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	795					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTCGACTCGCGCCGCTCCTCA	0.682000													33	126					0	0	0.010818	0	0
MAFB	9935	broad.mit.edu	37	20	39316774	39316774	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:39316774C>T	ENST00000373313.2	-	1	1106	c.717G>A	c.(715-717)ctG>ctA	p.L239L	MAFB_ENST00000396967.1_Silent_p.L239L	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	239					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GCTTCTGCTTCAGGCGGATCA	0.632000			T	IGH@	MM								7	60					0	0	0.003080	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16060340	16060340	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:16060340T>G	ENST00000375799.3	+	20	3198	c.2971T>G	c.(2971-2973)Ttc>Gtc	p.F991V	PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.F971V|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	991					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAAGAAGAAATTCGAGGATGC	0.642000													34	130					0	0	0.017118	0	0
SYNE2	23224	broad.mit.edu	37	14	64497985	64497985	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:64497985C>G	ENST00000358025.3	+	45	7361	c.7131C>G	c.(7129-7131)ggC>ggG	p.G2377G	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.G2377G|SYNE2_ENST00000554584.1_Silent_p.G2377G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2377					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCTGCCAGGCAGAGAGAAGC	0.453000													25	76					0	0	0.021523	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535926	90535926	+	RNA	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:90535926A>C	ENST00000602681.1	+	0	1830																											CCTCTTTCCCAGTCCTATCTC	0.537000													218	409					0	0	0.014410	0	0
PGAM4	441531	broad.mit.edu	37	X	77224638	77224638	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:77224638G>A	ENST00000458128.1	-	1	497	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	166					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CTTCATTCCAGAAGGGCAGAG	0.517000													43	53					0	0	0.011902	0	0
NUMA1	4926	broad.mit.edu	37	11	71726086	71726086	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:71726086C>A	ENST00000393695.3	-	15	2794	c.2463G>T	c.(2461-2463)caG>caT	p.Q821H	NUMA1_ENST00000358965.6_Missense_Mutation_p.Q821H|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	821					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCTCCTCTTGCTGGCTATCCT	0.577000			T	RARA	APL								33	255					1.99505e-19	2.80313e-19	0.012213	1	0
C2orf44	80304	broad.mit.edu	37	2	24261333	24261333	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:24261333C>G	ENST00000295148.4	-	2	1089	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	C2orf44_ENST00000406895.3_Silent_p.L344L	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	344							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATGCTATCAGATCAGGAA	0.418000			T	ALK	NSCLC								4	93					0	0	0.009096	0	0
ZMYM1	79830	broad.mit.edu	37	1	35576046	35576046	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:35576046C>T	ENST00000373330.1	+	8	1133	c.959C>T	c.(958-960)tCa>tTa	p.S320L	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S320L			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	320						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAATCTTCTTCAGGTAATGTT	0.299000													16	102					0	0	0.003163	0	0
BMPR2	659	broad.mit.edu	37	2	203420499	203420499	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:203420499C>G	ENST00000374580.4	+	12	2650	c.2111C>G	c.(2110-2112)tCt>tGt	p.S704C	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	704					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGTACTAGTTCTAGCTTGCTT	0.443000													4	102					0	0	0.009096	0	0
UNC13A	23025	broad.mit.edu	37	19	17737462	17737462	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17737462G>A	ENST00000428389.2	-	35	4316	c.4317C>T	c.(4315-4317)atC>atT	p.I1439I	UNC13A_ENST00000252773.7_Silent_p.I1351I|UNC13A_ENST00000519716.2_Silent_p.I1351I|UNC13A_ENST00000552293.1_Silent_p.I1351I|UNC13A_ENST00000550896.1_Silent_p.I1349I|UNC13A_ENST00000551649.1_Silent_p.I1351I			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1351	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCAGGTCCATGATGGGCTGCA	0.647000													3	6					0	0	0.004672	0	0
FOLR2	2350	broad.mit.edu	37	11	71932735	71932735	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:71932735G>C	ENST00000449475.2	+	5	983	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	FOLR2_ENST00000298223.6_Missense_Mutation_p.E233Q|FOLR2_ENST00000454954.2_Missense_Mutation_p.E192Q			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	233					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GAATGCTGGTGAGATGCTTCA	0.587000													13	161					0	0	0.013537	0	0
LRP1B	53353	broad.mit.edu	37	2	141806780	141806780	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:141806780C>G	ENST00000389484.3	-	11	2535	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	522					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E522K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGAACAACTCATTCTTTGGT	0.398000										TSP Lung(27;0.18)			10	21					0	0	0.008291	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187223	140187223	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140187223C>G	ENST00000530339.1	+	1	451	c.451C>G	c.(451-453)Cgg>Ggg	p.R151G	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R151G|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R151G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGACTCTCGGTTTCCACT	0.542000													5	87					0	0	0.014758	0	0
TLL1	7092	broad.mit.edu	37	4	167020652	167020652	+	Silent	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:167020652G>T	ENST00000061240.2	+	20	3527	c.2880G>T	c.(2878-2880)gtG>gtT	p.V960V	TLL1_ENST00000507499.1_Silent_p.V983V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	960	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAACAGCTGTGGGGCTTGGTC	0.433000													13	37					4.36969e-10	5.92068e-10	0.016723	1	0
POC5	134359	broad.mit.edu	37	5	74990490	74990490	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:74990490C>T	ENST00000428202.2	-	6	869	c.680G>A	c.(679-681)aGa>aAa	p.R227K	POC5_ENST00000380475.2_Missense_Mutation_p.R110K|POC5_ENST00000514838.2_Missense_Mutation_p.R199K|POC5_ENST00000510798.1_Missense_Mutation_p.R110K|POC5_ENST00000446329.2_Missense_Mutation_p.R202K|POC5_ENST00000504862.1_5'UTR	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	227					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCATCTTTTCTCCCAATGGA	0.294000													5	25					0	0	0.014758	0	0
MYH1	4619	broad.mit.edu	37	17	10395785	10395785	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10395785T>G	ENST00000226207.5	-	40	5862	c.5768A>C	c.(5767-5769)aAg>aCg	p.K1923T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1923						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACCCTCAGCTTGTTGACCTG	0.478000													29	72					0	0	0.009535	0	0
CDH7	1005	broad.mit.edu	37	18	63526247	63526247	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:63526247G>A	ENST00000536984.2	+	9	2153	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	CDH7_ENST00000397968.2_Missense_Mutation_p.E487K|CDH7_ENST00000323011.3_Missense_Mutation_p.E487K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	487	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CATGGACTATGAGACCACCGT	0.428000													5	31					0	0	0.014758	0	0
UBTF	7343	broad.mit.edu	37	17	42290269	42290269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:42290269G>T	ENST00000302904.4	-	7	1070	c.578C>A	c.(577-579)tCg>tAg	p.S193*	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Nonsense_Mutation_p.S193*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.S193*|UBTF_ENST00000343638.5_Nonsense_Mutation_p.S193*|UBTF_ENST00000393606.3_Nonsense_Mutation_p.S193*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.S193*|UBTF_ENST00000436088.1_Nonsense_Mutation_p.S193*|UBTF_ENST00000533177.1_Nonsense_Mutation_p.S193*			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	193					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGGATGTCCGATTTCTTGGC	0.587000													13	346					1.3612e-06	1.8063e-06	0.003163	1	0
MYO16	23026	broad.mit.edu	37	13	109562401	109562401	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:109562401C>G	ENST00000356711.2	+	16	1888	c.1762C>G	c.(1762-1764)Ctt>Gtt	p.L588V	MYO16_ENST00000357550.2_Missense_Mutation_p.L588V|MYO16_ENST00000251041.5_Missense_Mutation_p.L588V|MYO16_ENST00000457511.2_Missense_Mutation_p.L100V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	588	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCACAACCTCTTGGCCAGAG	0.358000													17	80					0	0	0.004007	0	0
PSMD3	5709	broad.mit.edu	37	17	38151529	38151529	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:38151529G>A	ENST00000264639.4	+	8	1371	c.1197G>A	c.(1195-1197)cgG>cgA	p.R399R	PSMD3_ENST00000541736.1_Silent_p.R261R	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	399	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCGGCTGCGGCACAACGTGA	0.537000													42	259					0	0	0.011902	0	0
MICALCL	84953	broad.mit.edu	37	11	12315578	12315578	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:12315578G>C	ENST00000256186.2	+	3	891	c.600G>C	c.(598-600)gaG>gaC	p.E200D		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	200					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCATCCCTGAGAGTGTGCACC	0.537000													31	85					0	0	0.010818	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113208461	113208461	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:113208461G>C	ENST00000261965.3	-	8	1062	c.876C>G	c.(874-876)gtC>gtG	p.V292V	TUBGCP3_ENST00000375669.3_Silent_p.V292V	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	292					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAGAAAGCCTGACTGCTGTGT	0.403000													16	75					0	0	0.004007	0	0
ADCY2	108	broad.mit.edu	37	5	7695884	7695884	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:7695884G>A	ENST00000338316.4	+	6	978	c.889G>A	c.(889-891)Gtt>Att	p.V297I	ADCY2_ENST00000537121.1_Missense_Mutation_p.V117I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	297					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGCTGACATCGTTGGCTTTAC	0.408000													34	57					0	0	0.015359	0	0
ARVCF	421	broad.mit.edu	37	22	19967410	19967410	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:19967410G>A	ENST00000263207.3	-	6	1543	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	ARVCF_ENST00000406522.1_Missense_Mutation_p.R355C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R418C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R355C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R355C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	418					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGGCCCGGCGCCGCACCTCA	0.687000													5	14					0	0	0.001168	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867275	7867275	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:7867275G>C	ENST00000264669.5	-	2	1058	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	308					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTTGACTTTGATCAAGAACC	0.393000													25	204					0	0	0.005443	0	0
ZNF816	125893	broad.mit.edu	37	19	53453850	53453850	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:53453850C>G	ENST00000357666.4	-	5	1478	c.1178G>C	c.(1177-1179)gGa>gCa	p.G393A	ZNF816_ENST00000444460.2_Missense_Mutation_p.G393A|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGGTTTCTCTCCAGTGTGAAG	0.393000													86	130					0	0	0.014410	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058039	46058039	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:46058039C>T	ENST00000380095.1	+	1	767	c.705C>T	c.(703-705)tgC>tgT	p.C235C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	235						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GCCCCGTGTGCTCCCGCCCTG	0.697000													61	178					0	0	0.014410	0	0
FAT3	120114	broad.mit.edu	37	11	92533025	92533025	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:92533025C>A	ENST00000298047.6	+	9	6863	c.6846C>A	c.(6844-6846)gaC>gaA	p.D2282E	FAT3_ENST00000409404.2_Missense_Mutation_p.D2282E|FAT3_ENST00000525166.1_Missense_Mutation_p.D2132E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2282	Cadherin 20.				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)				ATGTAAATGACAACCCCCCTA	0.423000										TCGA Ovarian(4;0.039)			4	14					0.00024832	0.00031791	0.009096	1	0
CDK5R1	8851	broad.mit.edu	37	17	30814982	30814982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:30814982C>A	ENST00000313401.3	+	2	1033	c.344C>A	c.(343-345)tCg>tAg	p.S115*		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	115					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGCCAGCTCTCGGGTTCCCAG	0.672000													76	164					4.75426e-39	6.75945e-39	0.014410	1	0
ZNF536	9745	broad.mit.edu	37	19	31040280	31040280	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:31040280G>A	ENST00000355537.3	+	4	3901	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCAAAGCCGGAGCGGGGGCC	0.612000													19	49					0	0	0.008871	0	0
TNFSF8	944	broad.mit.edu	37	9	117668170	117668170	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:117668170G>A	ENST00000223795.2	-	3	361	c.248C>T	c.(247-249)tCa>tTa	p.S83L		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	83					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAGGTCTTCTGAGCAATTTCC	0.403000													31	144					0	0	0.015359	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833287	43833287	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:43833287G>A	ENST00000319294.6	+	4	540	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	UBASH3A_ENST00000398367.1_Missense_Mutation_p.R170Q|UBASH3A_ENST00000291535.6_Missense_Mutation_p.R170Q	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	170						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GACGTCATCCGGGAATTCGCC	0.622000													20	139					0	0	0.016522	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600529	31600529	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:31600529G>C	ENST00000376033.2	+	16	4313	c.4079G>C	c.(4078-4080)gGa>gCa	p.G1360A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G1360A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1360	4 X 57 AA type A repeats.|Poly-Gly.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGTGGAGGTGGAGCCGTACCA	0.592000													85	49					0	0	0.014410	0	0
CFLAR	8837	broad.mit.edu	37	2	202000716	202000716	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:202000716G>A	ENST00000309955.3	+	4	924	c.409G>A	c.(409-411)Gag>Aag	p.E137K	CFLAR_ENST00000341582.6_Missense_Mutation_p.E137K|CFLAR_ENST00000423241.2_Missense_Mutation_p.E137K|CFLAR_ENST00000440180.1_Missense_Mutation_p.E137K|CFLAR_ENST00000457277.1_Missense_Mutation_p.E137K|CFLAR_ENST00000340870.5_Missense_Mutation_p.E137K|CFLAR_ENST00000342795.5_Missense_Mutation_p.E137K|CFLAR_ENST00000494258.1_Missense_Mutation_p.E41K|CFLAR_ENST00000443227.1_Missense_Mutation_p.E41K|CFLAR_ENST00000341222.6_Missense_Mutation_p.E137K|CFLAR_ENST00000355558.4_Missense_Mutation_p.E137K|CFLAR_ENST00000479953.2_Missense_Mutation_p.E41K|CFLAR_ENST00000395148.2_Missense_Mutation_p.E137K	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		DED 2.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CCTTGTGGTTGAGTTGGAGAA	0.403000													28	139					0	0	0.008361	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200824006	200824006	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:200824006G>C	ENST00000358823.2	+	14	4155	c.3885G>C	c.(3883-3885)aaG>aaC	p.K1295N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.K1279N|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.K1306N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1306						cytoplasm|microtubule	protein binding										ATTCAGGCAAGAGGACGCCAA	0.343000													6	21					0	0	0.001168	0	0
LCOR	84458	broad.mit.edu	37	10	98715326	98715326	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:98715326G>C	ENST00000540664.1	+	8	1492	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	LCOR_ENST00000371097.4_Missense_Mutation_p.E317Q|LCOR_ENST00000371103.3_Missense_Mutation_p.E317Q|LCOR_ENST00000356016.3_Missense_Mutation_p.E317Q|LCOR_ENST00000498444.1_Intron	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTCAGATGCTGAGCAGTCTAC	0.483000													15	11					0	0	0.004007	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600510	31600510	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:31600510C>G	ENST00000376033.2	+	16	4294	c.4060C>G	c.(4060-4062)Cct>Gct	p.P1354A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1354A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1354	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGTGGGAACTCCTGGGGGAGG	0.582000													24	89					0	0	0.016522	0	0
ITPR1	3708	broad.mit.edu	37	3	4715070	4715070	+	Splice_Site	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:4715070G>A	ENST00000354582.6	+	21	2805	c.2455G>A	c.(2455-2457)Gac>Aac	p.D819N	ITPR1_ENST00000357086.4_Splice_Site_p.D819N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Splice_Site_p.D804N|ITPR1_ENST00000456211.2_Splice_Site_p.D804N|ITPR1_ENST00000423119.2_Splice_Site_p.D819N|ITPR1_ENST00000302640.8_Splice_Site_p.D804N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	819					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CGCCATTGACGAGTGAGCCTG	0.498000													27	141					0	0	0.010818	0	0
SLC9A8	23315	broad.mit.edu	37	20	48503325	48503325	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:48503325A>G	ENST00000417961.1	+	15	1786	c.1576A>G	c.(1576-1578)Acg>Gcg	p.T526A	SLC9A8_ENST00000361573.2_Missense_Mutation_p.T510A|SLC9A8_ENST00000539601.1_Missense_Mutation_p.T291A|SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Missense_Mutation_p.T210A	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	510						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTCGGAGCTCACGGAGGAGGA	0.647000													100	100					0	0	0.014410	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Missense_Mutation	SNP	C	C	G	rs139135884	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:57947582C>G	ENST00000335397.3	+	3	982	c.666C>G	c.(664-666)atC>atG	p.I222M		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512000													26	93					0	0	0.008361	0	0
UNC5A	90249	broad.mit.edu	37	5	176304245	176304245	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176304245G>A	ENST00000329542.4	+	9	1705	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	UNC5A_ENST00000261961.3_Silent_p.E437E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	477	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATCTATGAGATCTACCTCA	0.642000													24	42					0	0	0.021523	0	0
TRIO	7204	broad.mit.edu	37	5	14387928	14387928	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:14387928G>C	ENST00000344204.4	+	23	3877	c.3853G>C	c.(3853-3855)Gag>Cag	p.E1285Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E1285Q|TRIO_ENST00000509967.2_Missense_Mutation_p.E1236Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1285					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTTAATGAAGAGAAGCGGAA	0.443000													13	106					0	0	0.016723	0	0
HNRNPH3	3189	broad.mit.edu	37	10	70099239	70099239	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:70099239C>T	ENST00000265866.7	+	6	731	c.566C>T	c.(565-567)tCa>tTa	p.S189L	HNRNPH3_ENST00000441000.2_Missense_Mutation_p.S81L|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.S174L|HNRNPH3_ENST00000469172.1_3'UTR	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	189	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GATGCAAGTTCAGGTTTTCAT	0.378000													17	35					0	0	0.006122	0	0
TRIM36	55521	broad.mit.edu	37	5	114473227	114473227	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:114473227C>G	ENST00000513154.1	-	6	1244	c.918G>C	c.(916-918)ttG>ttC	p.L306F	TRIM36_ENST00000282369.3_Missense_Mutation_p.L318F|TRIM36_ENST00000514154.1_Missense_Mutation_p.L163F			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	318						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CAATTGCTTTCAAAACAGATG	0.368000													40	76					0	0	0.006230	0	0
NXPH2	11249	broad.mit.edu	37	2	139428601	139428601	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:139428601T>C	ENST00000272641.3	-	2	792	c.686A>G	c.(685-687)aAg>aGg	p.K229R		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	229	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCAAATGACCTTGAAGGGCTT	0.468000													21	16					0	0	0.010504	0	0
NEDD8	4738	broad.mit.edu	37	14	24687356	24687356	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:24687356G>A	ENST00000250495.5	-	3	318	c.132C>T	c.(130-132)atC>atT	p.I44I	NEDD8-MDP1_ENST00000534348.1_Silent_p.I44I|NEDD8_ENST00000524927.1_Silent_p.I44I|NEDD8-MDP1_ENST00000604306.1_5'UTR	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TGCCACTGTAGATGAGCCTCT	0.522000													47	83					0	0	0.014410	0	0
TMEM248	55069	broad.mit.edu	37	7	66409968	66409968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:66409968G>A	ENST00000341567.4	+	3	420	c.165G>A	c.(163-165)tgG>tgA	p.W55*		NM_017994.4	NP_060464.1			transmembrane protein 248																		CAAAGGATTGGAATACTTTTC	0.473000													9	71					0	0	0.008291	0	0
VWF	7450	broad.mit.edu	37	12	6143929	6143929	+	Silent	SNP	G	G	A	rs141982646	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:6143929G>A	ENST00000261405.5	-	20	2864	c.2610C>T	c.(2608-2610)atC>atT	p.I870I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	870	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGCCATGCCGATCGTGGAGC	0.587000													19	74					0	0	0.010504	0	0
TOX2	84969	broad.mit.edu	37	20	42635186	42635186	+	Splice_Site	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:42635186G>A	ENST00000358131.5	+	3	400		c.e3-1		TOX2_ENST00000423191.2_Splice_Site|TOX2_ENST00000341197.4_Splice_Site|TOX2_ENST00000372999.1_Splice_Site	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGATGTTTTAGACCTACAACG	0.527000													30	241					0	0	0.010818	0	0
CBR4	84869	broad.mit.edu	37	4	169931103	169931103	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:169931103G>A	ENST00000306193.3	-	1	306	c.138C>T	c.(136-138)ctC>ctT	p.L46L	CBR4_ENST00000504480.1_Silent_p.L46L	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	46					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		ACCTACCGCCGAGGTCACCGG	0.587000											OREG0016397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	26					0	0	0.010729	0	0
POLR2M	81488	broad.mit.edu	37	15	57921940	57921940	+	Translation_Start_Site	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:57921940A>T	ENST00000380563.2	+	0	475				GCOM1_ENST00000380569.2_Missense_Mutation_p.K189M|GCOM1_ENST00000396180.1_Missense_Mutation_p.K158M|GCOM1_ENST00000574161.1_Missense_Mutation_p.K189M|GCOM1_ENST00000380560.2_Missense_Mutation_p.K120M|MYZAP_ENST00000267853.5_Missense_Mutation_p.K189M|GCOM1_ENST00000380568.3_Missense_Mutation_p.K189M|GCOM1_ENST00000587652.1_Missense_Mutation_p.K189M|GCOM1_ENST00000380561.2_Missense_Mutation_p.K158M|MYZAP_ENST00000380565.4_Missense_Mutation_p.K189M|GCOM1_ENST00000572390.1_Missense_Mutation_p.K189M					polymerase (RNA) II (DNA directed) polypeptide M																		AGCAACATTAAGGATCAAATC	0.458000													13	34					0	0	0.016723	0	0
FANCA	2175	broad.mit.edu	37	16	89813043	89813043	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:89813043G>A	ENST00000389301.3	-	35	3492	c.3462C>T	c.(3460-3462)ttC>ttT	p.F1154F	FANCA_ENST00000568369.1_Silent_p.F1154F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1154					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TGGCCAGTATGAAGTCGACCA	0.562000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				30	92					0	0	0.015359	0	0
RIN2	54453	broad.mit.edu	37	20	19956386	19956386	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:19956386G>C	ENST00000255006.6	+	8	2013	c.1864G>C	c.(1864-1866)Gag>Cag	p.E622Q	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	573	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCAGAGCTCGGAGCTGGACCC	0.507000													12	41					0	0	0.013537	0	0
CCDC23	374969	broad.mit.edu	37	1	43282117	43282117	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:43282117C>G	ENST00000372521.4	-	2	197	c.99G>C	c.(97-99)caG>caC	p.Q33H	CCDC23_ENST00000537227.1_Missense_Mutation_p.Q33H|CCDC23_ENST00000497437.1_5'UTR|CCDC23_ENST00000372522.1_Missense_Mutation_p.Q33H	NM_199342.3	NP_955374.1	Q8N300	CCD23_HUMAN	coiled-coil domain containing 23	33										large_intestine(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTTTGTCTCTGCTTCAGCT	0.473000													45	247					0	0	0.014410	0	0
PNPLA1	285848	broad.mit.edu	37	6	36259282	36259282	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:36259282G>A	ENST00000394571.2	+	2	391	c.391G>A	c.(391-393)Gag>Aag	p.E131K	PNPLA1_ENST00000312917.5_Missense_Mutation_p.E36K|PNPLA1_ENST00000388715.3_Missense_Mutation_p.E36K	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	131	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AACGGACGGGGAGAATGTGGT	0.637000													5	34					0	0	0.014758	0	0
HSD17B13	345275	broad.mit.edu	37	4	88238286	88238286	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:88238286C>A	ENST00000328546.4	-	3	472	c.408G>T	c.(406-408)gaG>gaT	p.E136D	HSD17B13_ENST00000302219.6_Missense_Mutation_p.E100D	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	136						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TCTTGGTAATCTCTTCATCCT	0.403000													15	54					0.00400662	0.0050369	0.004007	1	0
CHD7	55636	broad.mit.edu	37	8	61735064	61735064	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:61735064G>A	ENST00000423902.2	+	12	3439	c.2960G>A	c.(2959-2961)cGa>cAa	p.R987Q	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.R987Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	987	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCTAAAGGCGAAACTGCATT	0.343000													7	49					0	0	0.001984	0	0
MCL1	4170	broad.mit.edu	37	1	150551725	150551725	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:150551725C>G	ENST00000369026.2	-	1	341	c.282G>C	c.(280-282)gcG>gcC	p.A94A	MCL1_ENST00000307940.3_Silent_p.A94A	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	94					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAAGCAGCCTCGCGGGGGTCG	0.751000													5	14					0	0	0.003080	0	0
ZNF232	7775	broad.mit.edu	37	17	5009199	5009199	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:5009199C>G	ENST00000250076.3	-	5	1909	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	ZNF232_ENST00000575898.1_Missense_Mutation_p.E410Q	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	392					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCCCACATTCTTTACATATA	0.443000													86	49					0	0	0.014410	0	0
OTOP1	133060	broad.mit.edu	37	4	4199019	4199019	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:4199019C>G	ENST00000296358.4	-	5	1566	c.1542G>C	c.(1540-1542)gaG>gaC	p.E514D		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	514					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCCTGCTTCTCCTCCTCCT	0.577000													20	70					0	0	0.014323	0	0
SACS	26278	broad.mit.edu	37	13	23914840	23914840	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:23914840C>G	ENST00000382298.3	-	10	3763	c.3175G>C	c.(3175-3177)Gaa>Caa	p.E1059Q	SACS_ENST00000382292.3_Missense_Mutation_p.E1059Q|SACS_ENST00000402364.1_Missense_Mutation_p.E309Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1059					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.E912Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTAGTACTTCTATATCAGGG	0.383000													25	102					0	0	0.016522	0	0
OR6C76	390326	broad.mit.edu	37	12	55820354	55820354	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:55820354C>T	ENST00000328314.3	+	1	317	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCCTTGGCTCAACGGAGTTT	0.403000													14	47					0	0	0.016723	0	0
PSMC3	5702	broad.mit.edu	37	11	47444417	47444417	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:47444417C>G	ENST00000298852.3	-	7	856	c.699G>C	c.(697-699)aaG>aaC	p.K233N	PSMC3_ENST00000530912.1_Missense_Mutation_p.K191N|PSMC3_ENST00000602866.1_Missense_Mutation_p.K217N	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	233					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGGAGGGTCTTCCCCGTCC	0.582000													8	198					0	0	0.006214	0	0
OR8B4	283162	broad.mit.edu	37	11	124294480	124294480	+	Silent	SNP	A	A	G	rs142136468		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:124294480A>G	ENST00000356130.3	-	1	309	c.288T>C	c.(286-288)tgT>tgC	p.C96C		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCTGAGTCATACATCCCACAT	0.403000													10	37					0	0	0.006214	0	0
SLC4A7	9497	broad.mit.edu	37	3	27446455	27446455	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:27446455C>G	ENST00000295736.5	-	14	1985		c.e14-1		SLC4A7_ENST00000428386.1_Splice_Site|SLC4A7_ENST00000455077.1_Splice_Site|SLC4A7_ENST00000425128.2_Splice_Site|SLC4A7_ENST00000440156.1_Splice_Site|SLC4A7_ENST00000446700.1_Splice_Site|SLC4A7_ENST00000445684.1_Splice_Site|SLC4A7_ENST00000454389.1_Splice_Site|SLC4A7_ENST00000435667.2_Splice_Site|SLC4A7_ENST00000437179.1_Splice_Site|SLC4A7_ENST00000388777.4_Splice_Site	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7							apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTATTGCACTCTGTTTAAGGA	0.353000													9	29					0	0	0.008291	0	0
BORA	79866	broad.mit.edu	37	13	73321010	73321010	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:73321010G>C	ENST00000390667.5	+	10	1340	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	BORA_ENST00000377815.3_Missense_Mutation_p.E345Q	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	415					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										CAGTGCTTCTGAGAAAGAATT	0.423000													12	36					0	0	0.010729	0	0
CHFR	55743	broad.mit.edu	37	12	133428241	133428241	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:133428241C>T	ENST00000266880.7	-	13	1551	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Silent_p.A405A|CHFR_ENST00000315585.7_Silent_p.A456A|CHFR_ENST00000450056.2_Silent_p.A485A|CHFR_ENST00000537522.1_Silent_p.A119A|CHFR_ENST00000432561.2_Silent_p.A497A			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	497					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GCTCGCGCTCCGCTCTCCGGT	0.647000													39	181					0	0	0.006230	0	0
SRRT	51593	broad.mit.edu	37	7	100479836	100479836	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:100479836C>T	ENST00000388793.4	+	5	781	c.561C>T	c.(559-561)ttC>ttT	p.F187F	SRRT_ENST00000457580.2_Silent_p.F187F|SRRT_ENST00000347433.4_Silent_p.F187F|SRRT_ENST00000432932.1_Silent_p.F187F	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	187					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCAGGATTTCTTCCTGGCGC	0.587000													10	62					0	0	0.008291	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26188994	26188994	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:26188994C>T	ENST00000340756.2	-	1	310	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	0					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GAGGTAAGCTCAGCCGCCGAA	0.537000													22	69					0	0	0.018920	0	0
ZNF581	51545	broad.mit.edu	37	19	56156283	56156283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:56156283G>T	ENST00000587252.1	+	2	619	c.346G>T	c.(346-348)Gag>Tag	p.E116*	ZNF581_ENST00000588537.1_Nonsense_Mutation_p.E116*|ZNF581_ENST00000270451.5_Nonsense_Mutation_p.E116*			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAAGCCCTTCGAGTGTGACAT	0.607000													7	223					0.00307968	0.00387743	0.003080	1	0
PTPN21	11099	broad.mit.edu	37	14	88936060	88936060	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:88936060C>A	ENST00000556564.1	-	17	3302	c.3018G>T	c.(3016-3018)aaG>aaT	p.K1006N	PTPN21_ENST00000328736.3_Missense_Mutation_p.K1006N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1006	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCTAAAGCTCTTCTCCCTTC	0.502000													9	20					9.70103e-10	1.31019e-09	0.008291	1	0
TRPC4AP	26133	broad.mit.edu	37	20	33596493	33596493	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:33596493C>T	ENST00000252015.2	-	13	1658	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	TRPC4AP_ENST00000451813.2_Silent_p.K515K|TRPC4AP_ENST00000539834.1_Silent_p.K125K|TRPC4AP_ENST00000432634.2_Silent_p.K484K			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	523					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGGCTCCTTCTTCATGACCT	0.507000													82	281					0	0	0.014410	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72014016	72014016	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:72014016C>G	ENST00000378743.3	-	25	5182	c.4824G>C	c.(4822-4824)atG>atC	p.M1608I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1608					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCAGAGCAATCATGTTTGTGT	0.403000													23	364					0	0	0.021523	0	0
ULK4	54986	broad.mit.edu	37	3	41942280	41942280	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:41942280C>A	ENST00000301831.4	-	13	1686	c.1224G>T	c.(1222-1224)caG>caT	p.Q408H	ULK4_ENST00000420927.1_Missense_Mutation_p.Q408H	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	408							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCTCTCTCATCTGGGATTCCA	0.413000													50	179					1.27334e-21	1.7921e-21	0.014410	1	0
RAVER2	55225	broad.mit.edu	37	1	65273062	65273062	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:65273062C>T	ENST00000294428.3	+	9	1663	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L516F|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	529						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGCCTTATCTTCAGAGCTT	0.532000													11	99					0	0	0.008291	0	0
EDA2R	60401	broad.mit.edu	37	X	65824270	65824270	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:65824270C>T	ENST00000374719.3	-	4	401	c.345G>A	c.(343-345)gaG>gaA	p.E115E	EDA2R_ENST00000450752.1_Silent_p.E115E|EDA2R_ENST00000396050.1_Silent_p.E115E|EDA2R_ENST00000456230.2_Silent_p.E115E|EDA2R_ENST00000253392.5_Silent_p.E115E|EDA2R_ENST00000451436.2_Intron	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	115					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CACATTGAACCTCAGAGGTGG	0.512000													13	28					0	0	0.020292	0	0
SLC47A2	146802	broad.mit.edu	37	17	19608794	19608794	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:19608794G>C	ENST00000350657.5	-	10	1038	c.864C>G	c.(862-864)ctC>ctG	p.L288L	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Silent_p.L324L	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	324						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CCTGGGCAGAGAGATCCACCA	0.647000													5	23					0	0	0.014758	0	0
KMT2D	8085	broad.mit.edu	37	12	49446362	49446362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:49446362C>A	ENST00000301067.7	-	9	1242	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGTTTGGCTTCACATTGCAGG	0.547000													8	25					0.00448238	0.00562653	0.004482	1	0
FBLN1	2192	broad.mit.edu	37	22	45970446	45970446	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:45970446G>A	ENST00000327858.6	+	15	1848	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	FBLN1_ENST00000348697.2_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	585					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCGCCCCAACGATGTCACATG	0.627000													12	47					0	0	0.013537	0	0
MUC16	94025	broad.mit.edu	37	19	9063595	9063595	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:9063595T>A	ENST00000397910.4	-	3	24054	c.23851A>T	c.(23851-23853)Agg>Tgg	p.R7951W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7953	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						GGACCCCTCCTCATAAGAGTG	0.463000													17	55					0	0	0.004990	0	0
NEK11	79858	broad.mit.edu	37	3	130828671	130828671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:130828671C>T	ENST00000383366.4	+	5	654	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	NEK11_ENST00000356918.4_Nonsense_Mutation_p.Q121*|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000510769.1_Nonsense_Mutation_p.Q121*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.Q121*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.Q121*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.Q121*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.Q121*|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Nonsense_Mutation_p.Q121*	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	121	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CGATAAAATTCAGGAATATAA	0.338000													31	24					0	0	0.013726	0	0
TCEANC2	127428	broad.mit.edu	37	1	54520107	54520107	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:54520107C>A	ENST00000234827.1	+	2	212	c.12C>A	c.(10-12)ttC>ttA	p.F4L	TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.F34L	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	4					transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|lung(3)|pancreas(1)	5						TGGATAAATTCGTCATTCGAA	0.478000													14	70					0.000308642	0.000393931	0.003163	1	0
SULF1	23213	broad.mit.edu	37	8	70536209	70536209	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:70536209A>G	ENST00000260128.4	+	15	2344	c.1627A>G	c.(1627-1629)Aca>Gca	p.T543A	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.T543A|SULF1_ENST00000458141.2_Missense_Mutation_p.T543A|SULF1_ENST00000419716.3_Missense_Mutation_p.T543A	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	543					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACTCGGCAGACACGTTCCTT	0.408000													29	138					0	0	0.010818	0	0
FPGT	8790	broad.mit.edu	37	1	74670357	74670357	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:74670357A>G	ENST00000609362.1	+	4	663	c.626A>G	c.(625-627)gAt>gGt	p.D209G	FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D222G|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTTGTCTTAGATCCTTTTGAT	0.378000													13	111					0	0	0.020292	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232596869	232596869	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:232596869C>T	ENST00000366630.1	-	9	3217	c.2859G>A	c.(2857-2859)ctG>ctA	p.L953L	SIPA1L2_ENST00000308942.4_Silent_p.L27L|SIPA1L2_ENST00000262861.4_Silent_p.L953L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	953	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGTTCCTCCTCAGGGTCATTT	0.562000													93	199					0	0	0.014410	0	0
PDHA2	5161	broad.mit.edu	37	4	96761707	96761707	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:96761707C>T	ENST00000295266.4	+	1	469	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	136					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCTCGCAGAGCTGACGGGAAG	0.517000													20	56					0	0	0.010504	0	0
RPL15	6138	broad.mit.edu	37	3	23959373	23959373	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:23959373A>G	ENST00000307839.5	+	2	662	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	RPL15_ENST00000413699.1_Missense_Mutation_p.Q8R|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000415719.1_Missense_Mutation_p.Q8R|RPL15_ENST00000456530.2_Missense_Mutation_p.Q8R|RPL15_ENST00000435882.1_Missense_Mutation_p.Q8R|RPL15_ENST00000354811.5_Missense_Mutation_p.Q8R	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	8					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAGTACATCCAGGAGCTATGG	0.493000													25	46					0	0	0.007291	0	0
ZFPM1	161882	broad.mit.edu	37	16	88598530	88598530	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:88598530C>T	ENST00000319555.3	+	7	1155	c.833C>T	c.(832-834)aCa>aTa	p.T278I		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	278					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCAGCCGCCACAGACGAGAAG	0.687000													34	50					0	0	0.014410	0	0
DNAH3	55567	broad.mit.edu	37	16	21073952	21073952	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:21073952C>T	ENST00000261383.3	-	25	3570	c.3571G>A	c.(3571-3573)Gac>Aac	p.D1191N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1191N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1191	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGAGAGGGTCCTTTGTCTCG	0.448000													17	47					0	0	0.004007	0	0
BIRC6	57448	broad.mit.edu	37	2	32743998	32743998	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:32743998C>G	ENST00000421745.2	+	57	11742	c.11608C>G	c.(11608-11610)Ctt>Gtt	p.L3870V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3870					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCAGATGTTCTTGACAGAGT	0.348000													5	27					0	0	0.014758	0	0
OR51I2	390064	broad.mit.edu	37	11	5474803	5474803	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:5474803G>T	ENST00000341449.2	+	1	166	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCTGTCAGGGCCCCTCTG	0.547000													12	31					9.31168e-06	1.21444e-05	0.016723	1	0
STK36	27148	broad.mit.edu	37	2	219559043	219559043	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:219559043C>T	ENST00000295709.3	+	20	2672	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	STK36_ENST00000392106.2_Missense_Mutation_p.S798F|STK36_ENST00000440309.1_Missense_Mutation_p.S798F|STK36_ENST00000392105.3_Missense_Mutation_p.S798F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	798					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATGTCGTCTCTCTTGTGGTA	0.458000													8	195					0	0	0.008291	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348186	140348186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140348186C>A	ENST00000289269.5	+	1	2367	c.1835C>A	c.(1834-1836)tCa>tAa	p.S612*	PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		612	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTATGGACTCAGACTCTGGG	0.507000													17	31					2.35188e-11	3.2127e-11	0.006122	1	0
GPR98	84059	broad.mit.edu	37	5	90281315	90281315	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:90281315T>A	ENST00000405460.2	+	85	18224	c.18128T>A	c.(18127-18129)aTc>aAc	p.I6043N	GPR98_ENST00000425867.2_Missense_Mutation_p.I1704N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6043					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCACAGATCTATGGACTC	0.423000													14	16					0	0	0.004007	0	0
GPR64	10149	broad.mit.edu	37	X	19021018	19021018	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:19021018C>A	ENST00000354791.3	-	23	2369	c.2128G>T	c.(2128-2130)Gta>Tta	p.V710L	GPR64_ENST00000357544.3_Missense_Mutation_p.V696L|GPR64_ENST00000340581.3_Missense_Mutation_p.V607L|GPR64_ENST00000379873.2_Missense_Mutation_p.V726L|GPR64_ENST00000356606.4_Missense_Mutation_p.V712L|GPR64_ENST00000379878.3_Missense_Mutation_p.V710L|GPR64_ENST00000357991.3_Missense_Mutation_p.V723L|GPR64_ENST00000360279.4_Missense_Mutation_p.V704L|GPR64_ENST00000379876.1_Missense_Mutation_p.V702L|GPR64_ENST00000379869.3_Missense_Mutation_p.V726L			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	726					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTATTAAATACTTTGACAAGG	0.418000													25	33					8.24728e-16	1.1434e-15	0.004656	1	0
LRRTM2	26045	broad.mit.edu	37	5	138209627	138209627	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:138209627C>T	ENST00000274711.6	-	2	1001	c.623G>A	c.(622-624)aGa>aAa	p.R208K	CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000302763.7_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	208						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGAAGCTCTCTCAGTTTAAT	0.448000													159	17					0	0	0.014410	0	0
WISP2	8839	broad.mit.edu	37	20	43355830	43355830	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:43355830T>A	ENST00000372868.2	+	5	978	c.635T>A	c.(634-636)aTg>aAg	p.M212K	WISP2_ENST00000190983.4_Missense_Mutation_p.M212K|WISP2_ENST00000372865.4_Missense_Mutation_p.W130R|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	212	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGGCTGGGCATGGCCACCCGG	0.687000													43	128					0	0	0.008740	0	0
PTGER2	5732	broad.mit.edu	37	14	52781368	52781368	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:52781368C>T	ENST00000245457.5	+	1	256	c.102C>T	c.(100-102)gcC>gcT	p.A34A	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	34						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGTTCTCGGCCGGGGTGCTGG	0.682000													20	19					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179444828	179444828	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179444828C>G	ENST00000589042.1	-	318	67410	c.67186G>C	c.(67186-67188)Gca>Cca	p.A22396P	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A19828P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A13456P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A13331P|TTN_ENST00000591111.1_Missense_Mutation_p.A20755P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A13523P|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20755	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTCTCTGCATCACGTTTT	0.438000													15	106					0	0	0.003163	0	0
EPHA7	2045	broad.mit.edu	37	6	93965737	93965737	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:93965737T>C	ENST00000369303.4	-	13	2375	c.2191A>G	c.(2191-2193)Aca>Gca	p.T731A		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	731	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGAATGACTGTAAATTGCCCA	0.398000													3	21					0	0	0.009096	0	0
ZNF23	7571	broad.mit.edu	37	16	71482035	71482035	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:71482035G>C	ENST00000393539.2	-	6	2706	c.1893C>G	c.(1891-1893)ctC>ctG	p.L631L	ZNF23_ENST00000417828.1_Silent_p.L631L|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.L573L|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Silent_p.L631L|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Silent_p.L573L	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GATGCTGACTGAGCTGGAAGC	0.383000													10	102					0	0	0.006214	0	0
CSMD2	114784	broad.mit.edu	37	1	34208917	34208917	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:34208917A>T	ENST00000373381.4	-	14	2313	c.2137T>A	c.(2137-2139)Tcc>Acc	p.S713T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	673	Sushi 4.					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)				TTCCCTGTGGAGTGGTCAGTC	0.597000													14	49					0	0	0.020292	0	0
FAM193B	54540	broad.mit.edu	37	5	176952002	176952002	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176952002C>G	ENST00000329540.5	-	9	3187	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	FAM193B_ENST00000514747.1_Missense_Mutation_p.E494Q|FAM193B_ENST00000443375.2_Missense_Mutation_p.E461Q			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	170										kidney(1)|large_intestine(3)	4						ATGCTGAGCTCACACACACTG	0.572000													4	91					0	0	0.009096	0	0
UBE2S	27338	broad.mit.edu	37	19	55918274	55918274	+	Silent	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:55918274C>A	ENST00000264552.9	-	2	247	c.60G>T	c.(58-60)gtG>gtT	p.V20V	UBE2S_ENST00000589978.1_Silent_p.V20V	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	20					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		TCAGTGTCGTCACCTCCTTGT	0.602000													25	159					2.27525e-19	3.19146e-19	0.021523	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882099	228882099	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:228882099G>C	ENST00000392056.3	-	7	3517	c.3471C>G	c.(3469-3471)agC>agG	p.S1157R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1157R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1157						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGAATGCTGCTGGCGTTCT	0.512000													11	79					0	0	0.008291	0	0
PRKD3	23683	broad.mit.edu	37	2	37505009	37505009	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:37505009C>G	ENST00000379066.1	-	9	2058	c.1296G>C	c.(1294-1296)ctG>ctC	p.L432L	PRKD3_ENST00000234179.2_Splice_Site_p.L432L			O94806	KPCD3_HUMAN	protein kinase D3	432	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GATTACTGACCAGGTTATCCC	0.378000													36	83					0	0	0.005524	0	0
MPZ	4359	broad.mit.edu	37	1	161276626	161276626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:161276626C>T	ENST00000533357.1	-	3	386	c.320G>A	c.(319-321)tGg>tAg	p.W107*	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Nonsense_Mutation_p.W107*|MPZ_ENST00000360451.6_Nonsense_Mutation_p.W117*|MPZ_ENST00000526189.1_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	107	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCATCCTTCCAGCGAGGGTC	0.517000													54	478					0	0	0.014410	0	0
HIP1R	9026	broad.mit.edu	37	12	123343743	123343743	+	Splice_Site	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:123343743A>T	ENST00000253083.4	+	22	2419	c.2294A>T	c.(2293-2295)cAg>cTg	p.Q765L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	765					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGCTGGGCCAGGTGAGGCAC	0.652000													4	6					0	0	0.014758	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47502569	47502569	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:47502569G>A	ENST00000404338.3	+	5	4045	c.4045G>A	c.(4045-4047)Gac>Aac	p.D1349N	ARHGAP35_ENST00000598548.1_3'UTR	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1349	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGAAATCAACGACCGGGAGCA	0.493000													7	15					0	0	0.003080	0	0
TXK	7294	broad.mit.edu	37	4	48106974	48106974	+	Splice_Site	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:48106974T>C	ENST00000264316.4	-	6	532		c.e6-2		TXK_ENST00000510457.1_Splice_Site	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase							cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGGTACCACCTGTAAAAGCaa	0.284000													10	19					0	0	0.006214	0	0
OXSM	54995	broad.mit.edu	37	3	25832554	25832554	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:25832554C>A	ENST00000280701.3	+	2	142	c.43C>A	c.(43-45)Cgt>Agt	p.R15S	OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Missense_Mutation_p.R15S	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	15					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TACAAGCACTCGTCTTCTATG	0.388000													24	60					2.89027e-11	3.9417e-11	0.014323	1	0
RPRD2	23248	broad.mit.edu	37	1	150444194	150444194	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:150444194G>A	ENST00000401000.4	+	10	2757	c.2692G>A	c.(2692-2694)Ggg>Agg	p.G898R	RPRD2_ENST00000369068.4_Missense_Mutation_p.G924R|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.G898R			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	924	Ser-rich.						protein binding	p.G924W(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATGAACCTGGGTCTGACCG	0.502000													81	288					0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168105339	168105339	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:168105339G>A	ENST00000409195.1	+	9	7526	c.7437G>A	c.(7435-7437)caG>caA	p.Q2479Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q2257Q|XIRP2_ENST00000295237.9_Silent_p.Q2479Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2304					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGACAAAGCAGAACGTTATTA	0.403000													13	15					0	0	0.013537	0	0
MYH8	4626	broad.mit.edu	37	17	10309620	10309620	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10309620G>A	ENST00000403437.2	-	20	2360	c.2266C>T	c.(2266-2268)Cat>Tat	p.H756Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	756	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TATTGAGTATGATCAATATCA	0.378000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	15					0	0	0.006214	0	0
ZNF408	79797	broad.mit.edu	37	11	46726955	46726955	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:46726955C>T	ENST00000311764.2	+	5	1935	c.1705C>T	c.(1705-1707)Cac>Tac	p.H569Y		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTCCGAGCTCACGAGCGCCT	0.657000													6	30					0	0	0.001984	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978764	41978764	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:41978764C>G	ENST00000372584.1	-	7	7142	c.6128G>C	c.(6127-6129)aGa>aCa	p.R2043T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2043T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R2043T|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2043T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2043					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCCAGTTCTCTTCCCAGGGG	0.637000													22	100					0	0	0.018920	0	0
SLC12A7	10723	broad.mit.edu	37	5	1087072	1087072	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:1087072C>T	ENST00000264930.5	-	6	664	c.621G>A	c.(619-621)ctG>ctA	p.L207L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	207					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGTCGTGCCCAGGTAGAAGC	0.587000													19	82					0	0	0.007413	0	0
QSER1	79832	broad.mit.edu	37	11	32955355	32955355	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:32955355A>G	ENST00000399302.2	+	4	2499	c.2164A>G	c.(2164-2166)Aat>Gat	p.N722D	QSER1_ENST00000527788.1_Missense_Mutation_p.N483D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	722	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATCTCTTCCTAATACACAGGT	0.413000													8	21					0	0	0.003080	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460090	113460090	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:113460090C>A	ENST00000538576.1	-	4	1769	c.938G>T	c.(937-939)cGa>cTa	p.R313L	SLC16A1_ENST00000369626.3_Missense_Mutation_p.R313L|SLC16A1_ENST00000433570.4_Missense_Mutation_p.R313L	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	313					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CATAGATGGTCGGGCTACCAT	0.433000													6	29					3.59834e-05	4.64947e-05	0.001168	1	0
PLVAP	83483	broad.mit.edu	37	19	17476638	17476638	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17476638C>G	ENST00000252590.4	-	3	697	c.636G>C	c.(634-636)caG>caC	p.Q212H		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	212						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTTGGCCAGCTGGCGCTCTT	0.562000													24	92					0	0	0.004656	0	0
ULK4	54986	broad.mit.edu	37	3	41942279	41942279	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:41942279T>A	ENST00000301831.4	-	13	1687	c.1225A>T	c.(1225-1227)Atg>Ttg	p.M409L	ULK4_ENST00000420927.1_Missense_Mutation_p.M409L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	409							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGCTCTCTCATCTGGGATTCC	0.408000													50	179					0	0	0.014410	0	0
C3orf70	285382	broad.mit.edu	37	3	184801154	184801154	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:184801154C>T	ENST00000335012.2	-	2	584	c.394G>A	c.(394-396)Gac>Aac	p.D132N		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	132										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TGATAGTTGTCAATAAAAAGG	0.468000													20	113					0	0	0.010504	0	0
HSPA13	6782	broad.mit.edu	37	21	15746243	15746243	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:15746243C>G	ENST00000285667.3	-	5	1178	c.1111G>C	c.(1111-1113)Gat>Cat	p.D371H	HSPA13_ENST00000544452.1_Missense_Mutation_p.D163H	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	371						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTAAGGGTATCAAAGAGTTTC	0.408000													40	115					0	0	0.007835	0	0
KCNK15	60598	broad.mit.edu	37	20	43379189	43379189	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:43379189A>C	ENST00000372861.3	+	2	834	c.703A>C	c.(703-705)Att>Ctt	p.I235L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	235						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCTCACGGTCATTGGCGCCTT	0.706000													46	193					0	0	0.014410	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110456242	110456242	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:110456242G>C	ENST00000261739.4	+	5	659	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	165										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GCTGGGATTTGAAAACATGAG	0.443000													11	69					0	0	0.013537	0	0
ATPAF2	91647	broad.mit.edu	37	17	17924527	17924527	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:17924527G>C	ENST00000474627.3	-	7	796	c.642C>G	c.(640-642)ctC>ctG	p.L214L	ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	214					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CCATGGACTTGAGCTGGGCAG	0.592000													10	42					0	0	0.013537	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767112	77767112	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:77767112G>T	ENST00000521891.2	+	10	8403	c.7955G>T	c.(7954-7956)tGg>tTg	p.W2652L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.W2607L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.W2607L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.W2626L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2607						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W2636*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGCAAGTCTGGTTCCAGAAT	0.498000										HNSCC(33;0.089)			24	124					3.83957e-06	5.05493e-06	0.016522	1	0
EPHA2	1969	broad.mit.edu	37	1	16459810	16459810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:16459810C>A	ENST00000358432.5	-	11	2072	c.1918G>T	c.(1918-1920)Gag>Tag	p.E640*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	640	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACCGGCACCTCCTTCTTCCCC	0.627000													22	113					9.86323e-18	1.37657e-17	0.021523	1	0
C1QBP	708	broad.mit.edu	37	17	5336678	5336678	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:5336678G>C	ENST00000225698.4	-	5	715	c.634C>G	c.(634-636)Cag>Gag	p.Q212E	C1QBP_ENST00000574444.1_Missense_Mutation_p.Q108E	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	212					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						CCAGTGGACTGAAAGCTAACT	0.468000													48	132					0	0	0.014410	0	0
ZNF407	55628	broad.mit.edu	37	18	72343704	72343704	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:72343704C>G	ENST00000299687.5	+	1	729	c.729C>G	c.(727-729)gtC>gtG	p.V243V	ZNF407_ENST00000582337.1_Silent_p.V243V|ZNF407_ENST00000309902.6_Silent_p.V243V|ZNF407_ENST00000577538.1_Silent_p.V243V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CACAGAAGGTCTTTTCCTGTG	0.453000													27	93					0	0	0.004656	0	0
MARCH11	441061	broad.mit.edu	37	5	16177939	16177939	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:16177939G>T	ENST00000332432.8	-	2	788	c.589C>A	c.(589-591)Cag>Aag	p.Q197K	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	197						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AGGCACAGCTGATGTGTATAC	0.423000													14	128					2.32078e-09	3.12428e-09	0.003163	1	0
COL14A1	7373	broad.mit.edu	37	8	121211724	121211724	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:121211724A>T	ENST00000297848.3	+	8	1066	c.796A>T	c.(796-798)Atc>Ttc	p.I266F	COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000309791.4_Missense_Mutation_p.I266F|COL14A1_ENST00000537875.1_Missense_Mutation_p.I266F|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	266	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGCATTTTAATCACAGATGG	0.383000													8	46					0	0	0.003080	0	0
UCKL1	54963	broad.mit.edu	37	20	62571633	62571633	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:62571633G>A	ENST00000369908.5	-	14	1691	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	UCKL1_ENST00000354216.6_Silent_p.I479I|UCKL1_ENST00000369892.3_Silent_p.I479I|UCKL1_ENST00000358711.3_3'UTR	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	479					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACAGCAAAAAGATCTTGTCCT	0.587000													34	53					0	0	0.021022	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829226	67829226	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:67829226C>T	ENST00000433211.2	-	15	2173	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E667K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTTTCTGCCTCAGGCAGTTGA	0.348000													6	34					0	0	0.001984	0	0
CD2	914	broad.mit.edu	37	1	117297379	117297379	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:117297379C>G	ENST00000369478.3	+	2	296	c.188C>G	c.(187-189)tCa>tGa	p.S63*	CD2_ENST00000369477.1_Nonsense_Mutation_p.S63*	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	63	Ig-like V-type.|LFA-3 (CD58) binding region 1.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAAAAAACTTCAGACAAGAAA	0.348000													7	66					0	0	0.001984	0	0
CDH23	64072	broad.mit.edu	37	10	73567089	73567089	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:73567089C>T	ENST00000224721.6	+	57	8254	c.8249C>T	c.(8248-8250)aCc>aTc	p.T2750I	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.T505I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2745	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCACGCGGCACCCTCGTGGGC	0.627000													16	17					0	0	0.003163	0	0
SGK223	157285	broad.mit.edu	37	8	8234441	8234441	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:8234441G>C	ENST00000520004.1	-	3	1742	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	SGK223_ENST00000330777.4_Missense_Mutation_p.S493C			Q86YV5	SG223_HUMAN		493							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCCCACTGCAGAGTCAGGGCT	0.642000													9	22					0	0	0.008291	0	0
MYLK2	85366	broad.mit.edu	37	20	30408240	30408240	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:30408240G>A	ENST00000375994.2	+	2	637	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MYLK2_ENST00000375985.4_Missense_Mutation_p.D122N			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	122					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCAGCCAGGATCCTGGAAA	0.667000													31	109					0	0	0.015359	0	0
RIMS1	22999	broad.mit.edu	37	6	72678707	72678707	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:72678707G>A	ENST00000264839.7	+	2	186	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RIMS1_ENST00000348717.5_Silent_p.A62A|RIMS1_ENST00000520567.1_Silent_p.A62A|RIMS1_ENST00000517960.1_Silent_p.A62A|RIMS1_ENST00000518273.1_Silent_p.A62A|RIMS1_ENST00000522291.1_Silent_p.A62A|RIMS1_ENST00000521978.1_Silent_p.A62A|RIMS1_ENST00000491071.2_Silent_p.A62A			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	62	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACATGGCGAAGCCTGCTG	0.453000													46	43					0	0	0.014410	0	0
JAGN1	84522	broad.mit.edu	37	3	9934620	9934620	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:9934620C>G	ENST00000307768.4	+	2	280	c.111C>G	c.(109-111)atC>atG	p.I37M	JAGN1_ENST00000489724.1_3'UTR	NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	37						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					AGTATGAAATCAAGAAGCTGA	0.473000													5	86					0	0	0.014758	0	0
PPM1A	5494	broad.mit.edu	37	14	60749714	60749714	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:60749714A>G	ENST00000395076.4	+	2	723	c.293A>G	c.(292-294)aAg>aGg	p.K98R	PPM1A_ENST00000325658.3_Missense_Mutation_p.K98R|PPM1A_ENST00000529574.1_Missense_Mutation_p.K98R|PPM1A_ENST00000325642.3_Missense_Mutation_p.K171R	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	98					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GAAAATGTAAAGAATGGAATC	0.418000													27	68					0	0	0.004656	0	0
PRKDC	5591	broad.mit.edu	37	8	48803019	48803019	+	Silent	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:48803019A>C	ENST00000314191.2	-	33	3923	c.3867T>G	c.(3865-3867)ctT>ctG	p.L1289L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L1289L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1290					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)				CTGCTTTCAAAAGTGAAGACT	0.383000								Non-homologous end-joining					5	11					0	0	0.014758	0	0
CELF5	60680	broad.mit.edu	37	19	3251037	3251037	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:3251037C>T	ENST00000541430.2	+	2	350	c.314C>T	c.(313-315)gCc>gTc	p.A105V	CELF5_ENST00000292672.2_Missense_Mutation_p.A105V	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	105	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCTCAGACTGCCCTGCACGAG	0.627000													23	80					0	0	0.012319	0	0
SI	6476	broad.mit.edu	37	3	164750379	164750379	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:164750379T>A	ENST00000264382.3	-	24	2729	c.2667A>T	c.(2665-2667)gaA>gaT	p.E889D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	889	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCACTCTAACTTCTGTAACAC	0.348000										HNSCC(35;0.089)			10	8					0	0	0.010729	0	0
PTGER4	5734	broad.mit.edu	37	5	40692210	40692210	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:40692210C>G	ENST00000302472.3	+	3	2221	c.1197C>G	c.(1195-1197)ctC>ctG	p.L399L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	399					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGCCAGACCTCTCACTGCCAG	0.572000													12	124					0	0	0.016723	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985120	140985120	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:140985120G>A	ENST00000298296.1	+	7	1576	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	MAGEC3_ENST00000409007.1_Missense_Mutation_p.E228K|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E228K|MAGEC3_ENST00000443323.2_Missense_Mutation_p.E148K|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E228K	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	526	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTTCTTTGAAGACACATT	0.438000													52	99					0	0	0.014410	0	0
ZNF502	91392	broad.mit.edu	37	3	44763893	44763893	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:44763893C>T	ENST00000296091.4	+	4	1840	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	ZNF502_ENST00000449836.1_Silent_p.F528F|ZNF502_ENST00000436624.2_Silent_p.F528F	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAAAGTTCTTCAGACATAGTT	0.413000													9	41					0	0	0.004482	0	0
U2AF2	11338	broad.mit.edu	37	19	56175100	56175100	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:56175100C>G	ENST00000450554.2	+	7	1691	c.732C>G	c.(730-732)gtC>gtG	p.V244V	U2AF2_ENST00000590551.1_Silent_p.V80V|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Silent_p.V244V	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	244					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ACCCCTCCGTCTATGTGCCTG	0.587000													86	196					0	0	0.014410	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602841	37602841	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:37602841G>C	ENST00000399151.3	+	14	1844	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	587					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTGAAGTCTGAGGACAGTGG	0.507000													29	137					0	0	0.007291	0	0
FNDC3A	22862	broad.mit.edu	37	13	49710722	49710722	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:49710722G>A	ENST00000492622.2	+	6	1050	c.745G>A	c.(745-747)Gat>Aat	p.D249N	FNDC3A_ENST00000541916.1_Missense_Mutation_p.D249N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D193N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	249						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACACAAGTTGATACAGAAAT	0.353000													6	51					0	0	0.001168	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102510695	102510695	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:102510695G>C	ENST00000360184.4	+	71	12933	c.12769G>C	c.(12769-12771)Gac>Cac	p.D4257H	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4257					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGGCGCGTGGACAACGAGTT	0.557000													10	18					0	0	0.013537	0	0
MYH13	8735	broad.mit.edu	37	17	10216043	10216043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10216043C>A	ENST00000418404.3	-	30	4376	c.4213G>T	c.(4213-4215)Gag>Tag	p.E1405*	MYH13_ENST00000252172.4_Nonsense_Mutation_p.E1405*|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1405					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.E1405*(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGTTCTCCTCTGCTTCCTGG	0.517000													7	22					5.4927e-09	7.38248e-09	0.004482	1	0
MAP4K2	5871	broad.mit.edu	37	11	64557220	64557220	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:64557220C>T	ENST00000294066.2	-	31	2448	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R778Q	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	786	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCCAAGCACTCGGAAGATCCT	0.592000													25	123					0	0	0.006320	0	0
STK24	8428	broad.mit.edu	37	13	99114063	99114063	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:99114063C>G	ENST00000397517.2	-	8	1094	c.1018G>C	c.(1018-1020)Gga>Cga	p.G340R	STK24_ENST00000376547.3_Missense_Mutation_p.G352R|STK24_ENST00000539966.1_Missense_Mutation_p.G321R	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	352					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGAGCTCCATTCTCGAGA	0.512000													42	208					0	0	0.014410	0	0
SLC44A2	57153	broad.mit.edu	37	19	10745710	10745710	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:10745710G>A	ENST00000586078.1	+	12	1125	c.1016G>A	c.(1015-1017)aGa>aAa	p.R339K	SLC44A2_ENST00000335757.5_Missense_Mutation_p.R339K|SLC44A2_ENST00000407327.4_Missense_Mutation_p.R337K	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	339					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTCCGGAAGAGAATTCTCATC	0.547000													64	234					0	0	0.014410	0	0
NBEA	26960	broad.mit.edu	37	13	35926317	35926317	+	Silent	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:35926317T>C	ENST00000400445.3	+	38	6570	c.6036T>C	c.(6034-6036)gcT>gcC	p.A2012A	NBEA_ENST00000379939.2_Silent_p.A2009A|NBEA_ENST00000540320.1_Silent_p.A2012A|NBEA_ENST00000310336.4_Silent_p.A2012A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2012						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATATGCTGCTGATAGAAGAG	0.328000													5	5					0	0	0.014758	0	0
MTM1	4534	broad.mit.edu	37	X	149767125	149767125	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:149767125G>A	ENST00000370396.2	+	4	260	c.206G>A	c.(205-207)cGt>cAt	p.R69H	MTM1_ENST00000413012.2_Missense_Mutation_p.R69H|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Intron|MTM1_ENST00000542741.1_Intron	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	69	GRAM.		R -> C (in XCNM; mild; reduced response to PI5P and reduced binding to PI(3,5)P2).|R -> P (in XCNM).|R -> S (in XCNM; severe).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAATTATCGTCTTTATTTA	0.299000													8	13					0	0	0.004482	0	0
PKD2L1	9033	broad.mit.edu	37	10	102057272	102057272	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:102057272G>A	ENST00000318222.3	-	5	1205	c.823C>T	c.(823-825)Cca>Tca	p.P275S	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.P275S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	275					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CGGGATCCTGGAAGGTCCAGG	0.617000													27	43					0	0	0.007291	0	0
MTFR2	113115	broad.mit.edu	37	6	136564027	136564027	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:136564027C>G	ENST00000420702.1	-	4	642	c.253G>C	c.(253-255)Gat>Cat	p.D85H	MTFR2_ENST00000451457.2_Missense_Mutation_p.D85H	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		GCTTCTTCATCATTTGCCACA	0.358000													3	78					0	0	0.004672	0	0
CD34	947	broad.mit.edu	37	1	208072532	208072532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:208072532G>C	ENST00000356522.4	-	3	623	c.302C>G	c.(301-303)tCa>tGa	p.S101*	CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Nonsense_Mutation_p.S101*	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	101					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TCCATAAACTGAGGTTATCAC	0.448000													28	191					0	0	0.007291	0	0
FAM135B	51059	broad.mit.edu	37	8	139255208	139255208	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:139255208A>T	ENST00000395297.1	-	7	816	c.646T>A	c.(646-648)Tac>Aac	p.Y216N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	216										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTTGCAGTACCCAGCTCCA	0.483000										HNSCC(54;0.14)			11	103					0	0	0.013537	0	0
FRMPD1	22844	broad.mit.edu	37	9	37735728	37735728	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:37735728C>T	ENST00000539465.1	+	13	1991	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.V466V|FRMPD1_ENST00000536622.1_Silent_p.V288V|FRMPD1_ENST00000541302.1_Silent_p.V335V			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	466	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCAGGACGTCAAGGTAACAC	0.423000													42	3					0	0	0.008740	0	0
FAM71F1	84691	broad.mit.edu	37	7	128359081	128359081	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:128359081C>G	ENST00000315184.5	+	3	684	c.631C>G	c.(631-633)Ctt>Gtt	p.L211V	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.L112V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	211										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCCTAGGATTCTTGTCACGCA	0.542000													80	63					0	0	0.014410	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237614	160237614	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:160237614T>G	ENST00000610273.1	+	14	1238	c.1067T>G	c.(1066-1068)tTc>tGc	p.F356C	PNLDC1_ENST00000392167.3_Missense_Mutation_p.F367C	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TATGATGCCTTCCTCTGTGGG	0.478000													25	76					0	0	0.008361	0	0
SRSF6	6431	broad.mit.edu	37	20	42086760	42086760	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:42086760C>G	ENST00000244020.3	+	1	193	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	29	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GCCGCCTCCTCGAAGTAGACC	0.647000													17	87					0	0	0.007413	0	0
IL23R	149233	broad.mit.edu	37	1	67724193	67724193	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:67724193T>G	ENST00000347310.5	+	11	1443	c.1272T>G	c.(1270-1272)agT>agG	p.S424R	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.S169R|IL23R_ENST00000473881.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	424					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATAATTCCAGTGAGCAGGTCC	0.343000													22	180					0	0	0.021523	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885180	88885180	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:88885180G>A	ENST00000319675.3	-	1	1116	c.1020C>T	c.(1018-1020)atC>atT	p.I340I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	340										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGAGGCTCCAGATTCTCGTGT	0.592000													14	129					0	0	0.004990	0	0
ASRGL1	80150	broad.mit.edu	37	11	62124597	62124597	+	Missense_Mutation	SNP	C	C	A	rs116195544	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:62124597C>A	ENST00000415229.2	+	4	687	c.472C>A	c.(472-474)Cag>Aag	p.Q158K	ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.Q158K|ASRGL1_ENST00000535727.1_Missense_Mutation_p.Q30K	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	158					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AAAAGGTGCTCAGAAAACAGA	0.403000													11	51					3.07112e-06	4.04961e-06	0.010729	1	0
ATP2B4	493	broad.mit.edu	37	1	203678495	203678495	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:203678495T>G	ENST00000357681.5	+	11	2747	c.1624T>G	c.(1624-1626)Ttt>Gtt	p.F542V	ATP2B4_ENST00000367218.3_Missense_Mutation_p.F542V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.F530V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.F542V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.F542V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	542					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTGCTAGGCTTTGTCACAGA	0.512000													46	84					0	0	0.013114	0	0
GFOD2	81577	broad.mit.edu	37	16	67709852	67709852	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:67709852T>A	ENST00000268797.7	-	3	709	c.364A>T	c.(364-366)Aac>Tac	p.N122Y	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	122						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		CGCAGCACGTTCCCTACCAGG	0.572000													11	86					0	0	0.013537	0	0
SHROOM2	357	broad.mit.edu	37	X	9864156	9864156	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:9864156C>G	ENST00000380913.3	+	4	2298	c.2208C>G	c.(2206-2208)ccC>ccG	p.P736P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	736	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCAGCCACCCTCATCTACAA	0.622000													9	9					0	0	0.008291	0	0
TTI1	9675	broad.mit.edu	37	20	36625251	36625251	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:36625251G>A	ENST00000373448.2	-	7	3136	c.2898C>T	c.(2896-2898)atC>atT	p.I966I	TTI1_ENST00000449821.1_Silent_p.I966I|TTI1_ENST00000373447.3_Silent_p.I966I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	966							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCCTGGCACTGATGGGGGCCT	0.597000													49	335					0	0	0.014410	0	0
CNPY3	10695	broad.mit.edu	37	6	42902239	42902239	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:42902239A>C	ENST00000372836.4	+	2	549	c.178A>C	c.(178-180)Aag>Cag	p.K60Q	CNPY3_ENST00000394142.3_Intron	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	60	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGTGGAGCTGAAGTCAGCCTT	0.537000													19	53					0	0	0.006122	0	0
KMT2C	58508	broad.mit.edu	37	7	151875031	151875031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:151875031G>A	ENST00000355193.2	-	38	7725	c.7507C>T	c.(7507-7509)Cag>Tag	p.Q2503*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2503*					lysine (K)-specific methyltransferase 2C																		TGTATTTGCTGAGGAGGCACA	0.378000													15	84					0	0	0.004990	0	0
ERICH1	157697	broad.mit.edu	37	8	618727	618727	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:618727C>T	ENST00000262109.7	-	5	1206	c.1129G>A	c.(1129-1131)Gcg>Acg	p.A377T	ERICH1_ENST00000522706.1_Missense_Mutation_p.A283T	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	377										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGTGTGACGCAAGGCGGTCC	0.517000													18	26					0	0	0.006122	0	0
POLR1A	25885	broad.mit.edu	37	2	86280076	86280076	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:86280076C>T	ENST00000263857.6	-	16	2634	c.2256G>A	c.(2254-2256)gcG>gcA	p.A752A	POLR1A_ENST00000409681.1_Silent_p.A752A			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	752					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCCCATAGTGCGCCTTGTCCA	0.632000													28	39					0	0	0.007291	0	0
UBR4	23352	broad.mit.edu	37	1	19441311	19441311	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:19441311C>T	ENST00000375267.2	-	75	11199	c.11196G>A	c.(11194-11196)cgG>cgA	p.R3732R	UBR4_ENST00000375217.2_Silent_p.R3725R|UBR4_ENST00000375254.3_Silent_p.R3732R|UBR4_ENST00000375226.2_Silent_p.R3708R|UBR4_ENST00000375218.3_Silent_p.R147R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3732					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCACCTTCTTCCGGTCTTCTT	0.522000													33	183					0	0	0.007835	0	0
LILRP2	79166	broad.mit.edu	37	19	55221672	55221672	+	RNA	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:55221672T>C	ENST00000413439.1	+	0	1415																											GGACCCACGCTCCGCACAGGC	0.677000													7	41					0	0	0.004482	0	0
C3orf22	152065	broad.mit.edu	37	3	126272147	126272147	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:126272147G>A	ENST00000318225.2	-	2	465	c.87C>T	c.(85-87)taC>taT	p.Y29Y		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	29										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TCCCGCACCTGTACGGAAACT	0.567000													15	638					0	0	0.003163	0	0
GFM2	84340	broad.mit.edu	37	5	74054712	74054712	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:74054712C>T	ENST00000296805.3	-	5	723	c.266G>A	c.(265-267)aGa>aAa	p.R89K	GFM2_ENST00000427854.2_Missense_Mutation_p.R89K|GFM2_ENST00000345239.2_Missense_Mutation_p.R89K|GFM2_ENST00000509430.1_Missense_Mutation_p.R89K	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	89					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GTACAATATTCTTTCTGTGGT	0.358000													3	32					0	0	0.009096	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588578	20588578	+	RNA	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:20588578C>A	ENST00000428453.1	-	0	4172																				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						CAGTAGGCATCCACTGCTAAT	0.438000													5	29					3.59834e-05	4.64947e-05	0.001168	1	0
RBM15	64783	broad.mit.edu	37	1	110882179	110882179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:110882179C>A	ENST00000369784.3	+	1	1052	c.152C>A	c.(151-153)tCg>tAg	p.S51*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.S51*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.S51*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	51					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAAGAGCGCTCGCCAGTGAAG	0.647000			T	MKL1	acute megakaryocytic leukemia								13	54					0.00185496	0.00234251	0.016723	1	0
MTMR12	54545	broad.mit.edu	37	5	32239280	32239280	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:32239280C>G	ENST00000382142.3	-	13	1342		c.e13-1		MTMR12_ENST00000280285.5_Splice_Site|MTMR12_ENST00000264934.5_Splice_Site	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12							cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCATTCTCCTCTAGGAGAGGC	0.483000													14	90					0	0	0.003163	0	0
SSH2	85464	broad.mit.edu	37	17	27999025	27999025	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27999025G>A	ENST00000269033.3	-	8	807	c.656C>T	c.(655-657)tCa>tTa	p.S219L	SSH2_ENST00000540801.1_Missense_Mutation_p.S246L|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	219					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCATTGACTGAGGATTGATC	0.468000													10	194					0	0	0.013537	0	0
TECTA	7007	broad.mit.edu	37	11	121016422	121016422	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:121016422G>T	ENST00000392793.1	+	12	3973	c.3702G>T	c.(3700-3702)caG>caT	p.Q1234H	TECTA_ENST00000264037.2_Missense_Mutation_p.Q1234H|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1234	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGCATGCAGAACAGCACCT	0.527000													20	71					1.15919e-05	1.50947e-05	0.008871	1	0
RHOA	387	broad.mit.edu	37	3	49400019	49400019	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:49400019G>C	ENST00000418115.1	-	4	702	c.318C>G	c.(316-318)ttC>ttG	p.F106L	RHOA_ENST00000454011.2_Missense_Mutation_p.S66C|RHOA_ENST00000422781.1_Missense_Mutation_p.F106L	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	106					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.F106L(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CGTTGGGACAGAAATGCTTGA	0.443000													46	46					0	0	0.014410	0	0
ERC1	23085	broad.mit.edu	37	12	1599298	1599298	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:1599298G>A	ENST00000397203.2	+	19	3659	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	ERC1_ENST00000355446.5_3'UTR|ERC1_ENST00000543086.3_Missense_Mutation_p.E1057K|ERC1_ENST00000360905.4_Missense_Mutation_p.E1085K|ERC1_ENST00000589028.1_Missense_Mutation_p.E1085K|ERC1_ENST00000546231.2_Missense_Mutation_p.E1089K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1085	FIP-RBD.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGACAATGCAGAACTGCAGGA	0.483000													38	78					0	0	0.006999	0	0
CSMD2	114784	broad.mit.edu	37	1	34291361	34291361	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:34291361C>G	ENST00000373381.4	-	7	1224	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	310	Sushi 2.					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)				GACTTCAACTCAATTTGCTTC	0.537000													9	43					0	0	0.006214	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507428	74507428	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:74507428T>A	ENST00000354431.4	-	7	1378	c.1187A>T	c.(1186-1188)aAa>aTa	p.K396I	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.K396I	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	396										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCGTATGTCTTTTTTAATGAT	0.343000													12	71					0	0	0.013537	0	0
ZNF124	7678	broad.mit.edu	37	1	247323035	247323035	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:247323035G>C	ENST00000472531.1	-	2	238	c.111C>G	c.(109-111)ctC>ctG	p.L37L	ZNF124_ENST00000340684.6_Silent_p.L37L|ZNF124_ENST00000491356.1_Silent_p.L37L|ZNF124_ENST00000543802.2_Silent_p.L37L|ZNF124_ENST00000491848.1_5'UTR	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CGTCTCTATAGAGATTCTTCT	0.418000													33	61					0	0	0.013726	0	0
TTN	7273	broad.mit.edu	37	2	179399173	179399173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179399173C>A	ENST00000589042.1	-	358	102393	c.102169G>T	c.(102169-102171)Gag>Tag	p.E34057*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E31489*|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E25117*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E24992*|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E32416*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E25184*|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32416							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTTCCTCTCTTTCACTAAC	0.398000													25	98					1.26454e-06	1.6807e-06	0.005443	1	0
MTA2	9219	broad.mit.edu	37	11	62364201	62364201	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:62364201C>T	ENST00000278823.2	-	9	1179	c.790G>A	c.(790-792)Gag>Aag	p.E264K	MTA2_ENST00000524902.1_Missense_Mutation_p.E91K|MTA2_ENST00000527204.1_Missense_Mutation_p.E91K	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	264	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCTCCATCTCATCCCGACAC	0.537000													69	142					0	0	0.014410	0	0
NCOA3	8202	broad.mit.edu	37	20	46279914	46279914	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:46279914C>T	ENST00000372004.3	+	20	4044	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F	NCOA3_ENST00000341724.6_Silent_p.F1206F|NCOA3_ENST00000371998.3_Silent_p.F1280F|NCOA3_ENST00000371997.3_Silent_p.F1271F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1280	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCAGGCCTTCAGCCCACCTC	0.567000													25	100					0	0	0.018920	0	0
CDH12	1010	broad.mit.edu	37	5	21802336	21802336	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:21802336A>T	ENST00000382254.1	-	10	2282	c.1196T>A	c.(1195-1197)gTa>gAa	p.V399E	CDH12_ENST00000522262.1_Missense_Mutation_p.V359E|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.V399E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	399	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GATGGTCCCTACCGGAGTGTC	0.478000										HNSCC(59;0.17)			19	17					0	0	0.008871	0	0
TPO	7173	broad.mit.edu	37	2	1481320	1481320	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:1481320T>A	ENST00000345913.4	+	8	1373	c.1282T>A	c.(1282-1284)Tgg>Agg	p.W428R	TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.W428R|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.W428R|TPO_ENST00000329066.4_Missense_Mutation_p.W428R|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.W428R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	428					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAATGCGCACTGGAGCGCGGA	0.741000													7	9					0	0	0.003080	0	0
VASN	114990	broad.mit.edu	37	16	4431070	4431070	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:4431070C>T	ENST00000304735.3	+	2	347	c.192C>T	c.(190-192)atC>atT	p.I64I	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	64						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						AGAACGGCATCACCATGCTCG	0.672000													7	13					0	0	0.003080	0	0
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:20107215G>C	ENST00000294543.6	-	4	278	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13E|TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13E	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607000													6	46					0	0	0.001168	0	0
C1orf127	148345	broad.mit.edu	37	1	11007721	11007721	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:11007721C>T	ENST00000377004.4	-	12	2470	c.2471G>A	c.(2470-2472)tGa>tAa	p.*824*	C1orf127_ENST00000377008.4_Silent_p.*657*	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	0										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CATGGAGGCTCAGCGTGAGGG	0.637000													4	20					0	0	0.009096	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413848	26413848	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:26413848C>G	ENST00000289361.6	+	10	1838	c.1470C>G	c.(1468-1470)ttC>ttG	p.F490L	BTN3A1_ENST00000414912.2_Missense_Mutation_p.F438L	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	490	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACGTCTCCTTCTCTGAGGCTC	0.458000													32	113					0	0	0.009535	0	0
ZBED4	9889	broad.mit.edu	37	22	50277651	50277651	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50277651C>A	ENST00000216268.5	+	2	818	c.341C>A	c.(340-342)tCc>tAc	p.S114Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AACATGAGCTCCAGGAAGAAG	0.532000													26	67					9.39395e-14	1.2938e-13	0.006320	1	0
CXorf57	55086	broad.mit.edu	37	X	105882904	105882904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:105882904C>A	ENST00000372548.4	+	9	1830	c.1721C>A	c.(1720-1722)tCa>tAa	p.S574*	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	574										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCTCAGCATCAGAAACACTT	0.398000													21	37					7.41877e-09	9.95521e-09	0.012319	1	0
KDM8	79831	broad.mit.edu	37	16	27221612	27221612	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:27221612C>T	ENST00000286096.4	+	2	341	c.168C>T	c.(166-168)ttC>ttT	p.F56F	KDM8_ENST00000380948.2_Silent_p.F56F|KDM8_ENST00000441782.2_Silent_p.F94F|KDM8_ENST00000568965.1_Silent_p.F56F	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	56					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										CTGAGCTCTTCTACGAGGGCA	0.587000													12	55					0	0	0.013537	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182681826	182681826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:182681826C>A	ENST00000292782.4	-	3	385	c.232G>T	c.(232-234)Gag>Tag	p.E78*	DCUN1D1_ENST00000469954.1_Nonsense_Mutation_p.E63*	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	78	DCUN1.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATTTTATTCTCATCTTGAGGG	0.353000													7	48					2.7689e-08	3.70961e-08	0.001984	1	0
PPP6R2	9701	broad.mit.edu	37	22	50878445	50878445	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50878445G>A	ENST00000359139.3	+	20	2657	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K	PPP6R2_ENST00000395741.3_Missense_Mutation_p.E755K|PPP6R2_ENST00000216061.5_Missense_Mutation_p.E781K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.E754K	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	781						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CAGCCATGCTGAGGGCAGCCG	0.647000													13	39					0	0	0.003163	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088417	65088417	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:65088417C>T	ENST00000544348.1	+	2	654	c.48C>T	c.(46-48)ggC>ggT	p.G16G	CDC42EP2_ENST00000533419.1_Silent_p.G16G|CDC42EP2_ENST00000279249.2_Silent_p.G16G			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	16					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						GTCGCAAGGGCAAGAAGGAGA	0.627000													6	58					0	0	0.001168	0	0
A2ML1	144568	broad.mit.edu	37	12	8988223	8988223	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:8988223G>A	ENST00000299698.7	+	6	784	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	46						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGCAGTGGCTGAGGGCAAGAC	0.507000													23	74					0	0	0.021523	0	0
CROCCP3	114819	broad.mit.edu	37	1	16811337	16811337	+	RNA	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:16811337C>G	ENST00000263511.4	-	0	1552					NR_023386.1																						GTCCCTTAGGCTCTGCTGTAG	0.632000													4	2					0	0	0.001168	0	0
RAVER1	125950	broad.mit.edu	37	19	10444084	10444084	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:10444084C>T	ENST00000293677.6	-	1	232	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	34						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGCAGCTCTTCTTCCGGCGCC	0.672000													26	146					0	0	0.009535	0	0
TM7SF3	51768	broad.mit.edu	37	12	27148173	27148173	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:27148173G>A	ENST00000343028.4	-	5	912	c.687C>T	c.(685-687)ctC>ctT	p.L229L	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	229						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GATTTACCTTGAGAGCACTGG	0.468000													20	110					0	0	0.008871	0	0
SPPL2B	56928	broad.mit.edu	37	19	2339822	2339822	+	RNA	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:2339822G>A	ENST00000452401.2	+	0	679							Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCTCCCAAGAAGGTACATG	0.677000													4	11					0	0	0.001168	0	0
AMER2	219287	broad.mit.edu	37	13	25744587	25744587	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:25744587C>G	ENST00000357816.2	-	3	1289	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	AMER2_ENST00000515384.1_Missense_Mutation_p.E391Q|AMER2_ENST00000381853.3_Missense_Mutation_p.E272Q					APC membrane recruitment protein 2																		GGACCTGCCTCTTCCTCTTGG	0.532000													21	103					0	0	0.012319	0	0
NTNG1	22854	broad.mit.edu	37	1	107867236	107867236	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:107867236G>A	ENST00000370067.1	+	3	1206	c.579G>A	c.(577-579)gtG>gtA	p.V193V	NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370071.2_Silent_p.V193V|NTNG1_ENST00000370072.3_Silent_p.V193V|NTNG1_ENST00000370068.1_Silent_p.V193V|NTNG1_ENST00000370065.1_Silent_p.V193V|NTNG1_ENST00000370074.4_Silent_p.V193V|NTNG1_ENST00000370061.3_Silent_p.V193V|NTNG1_ENST00000542803.1_Silent_p.V193V|NTNG1_ENST00000370070.2_Silent_p.V193V|NTNG1_ENST00000370066.1_Silent_p.V193V|NTNG1_ENST00000370073.2_Silent_p.V193V			Q9Y2I2	NTNG1_HUMAN	netrin G1	193	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTAAATCCGTGAAGGATTTAT	0.398000													6	15					0	0	0.001168	0	0
COL8A1	1295	broad.mit.edu	37	3	99513764	99513764	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:99513764G>A	ENST00000261037.3	+	5	1399	c.1019G>A	c.(1018-1020)gGg>gAg	p.G340E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G340E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	340	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACTGCCAGGGCTACCAGGA	0.627000													4	62					0	0	0.009096	0	0
SSH2	85464	broad.mit.edu	37	17	27998987	27998987	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27998987G>T	ENST00000269033.3	-	8	845	c.694C>A	c.(694-696)Cac>Aac	p.H232N	SSH2_ENST00000540801.1_Missense_Mutation_p.H259N|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	232					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGGGCCGGTGGGACTGTACA	0.448000													11	205					1.87028e-06	2.4779e-06	0.012319	1	0
GPR128	84873	broad.mit.edu	37	3	100362453	100362453	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:100362453C>G	ENST00000273352.3	+	8	1190	c.922C>G	c.(922-924)Cag>Gag	p.Q308E	GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	308					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GACTGAGCTTCAGGTCTTGCT	0.363000													45	28					0	0	0.013114	0	0
CTNND2	1501	broad.mit.edu	37	5	11098851	11098851	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:11098851C>A	ENST00000304623.8	-	15	2662	c.2473G>T	c.(2473-2475)Gta>Tta	p.V825L	CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000458100.2_Missense_Mutation_p.V392L|CTNND2_ENST00000511377.1_Missense_Mutation_p.V734L|CTNND2_ENST00000503622.1_Missense_Mutation_p.V488L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	825					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGAGGTCCTACTCCATCCCAC	0.468000													9	83					3.86212e-05	4.98261e-05	0.008291	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90534106	90534106	+	RNA	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:90534106G>T	ENST00000602681.1	+	0	852																											TGAGTGCAGCGTGCTGCGGCT	0.552000													7	25					2.0095e-06	2.65813e-06	0.001984	1	0
RMI2	116028	broad.mit.edu	37	16	11444614	11444614	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:11444614G>A	ENST00000572173.1	+	5	867	c.222G>A	c.(220-222)ctG>ctA	p.L74L	RMI2_ENST00000576027.1_3'UTR|RMI2_ENST00000381820.2_Silent_p.L74L|RMI2_ENST00000312499.5_Silent_p.L137L			Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	137					DNA replication	nucleus	DNA binding			endometrium(1)|kidney(1)|ovary(1)	3						TGTGGGAACTGGAGGTAGAAG	0.438000													19	108					0	0	0.010504	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316194	73316194	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:73316194C>G	ENST00000258098.6	-	2	921	c.681G>C	c.(679-681)aaG>aaC	p.K227N	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	227					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTGCCCATCTTGCCCAGGC	0.587000													31	134					0	0	0.009535	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43953483	43953483	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:43953483G>C	ENST00000282406.4	+	17	2724	c.2614G>C	c.(2614-2616)Gat>Cat	p.D872H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	872	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCAGATGAAGATTATGAAGC	0.398000													3	51					0	0	0.004672	0	0
PRDM9	56979	broad.mit.edu	37	5	23526574	23526574	+	Silent	SNP	G	G	A	rs112001060		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:23526574G>A	ENST00000296682.3	+	11	1559	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	459					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R459S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAAAGAAAGGTCCAAACTCT	0.468000										HNSCC(3;0.000094)			29	17					0	0	0.005443	0	0
CCDC84	338657	broad.mit.edu	37	11	118881534	118881534	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:118881534C>T	ENST00000334418.1	+	4	500	c.444C>T	c.(442-444)atC>atT	p.I148I	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	148										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		ATAAAGTGATCAAGGAGGTAA	0.468000													7	41					0	0	0.003080	0	0
RANBP10	57610	broad.mit.edu	37	16	67768937	67768937	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:67768937G>C	ENST00000317506.3	-	6	715	c.600C>G	c.(598-600)ctC>ctG	p.L200L	RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000448631.2_Silent_p.L144L|RANBP10_ENST00000602677.1_Silent_p.L200L|RANBP10_ENST00000411657.2_Silent_p.L83L|RANBP10_ENST00000425512.2_Silent_p.L68L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	200	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGGTGGGGTAGAGGTTGGCCT	0.592000													12	81					0	0	0.013537	0	0
CHD7	55636	broad.mit.edu	37	8	61655385	61655385	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:61655385C>A	ENST00000423902.2	+	2	1873	c.1394C>A	c.(1393-1395)tCc>tAc	p.S465Y	CHD7_ENST00000524602.1_Missense_Mutation_p.S465Y|CHD7_ENST00000525508.1_Missense_Mutation_p.S465Y	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	465	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATAGGCATGTCCTCGGCACCA	0.557000													9	39					0.000274275	0.000350602	0.004482	1	0
CELSR3	1951	broad.mit.edu	37	3	48698069	48698069	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:48698069C>A	ENST00000544264.1	-	1	2279	c.1999G>T	c.(1999-2001)Ggt>Tgt	p.G667C	CELSR3_ENST00000164024.4_Missense_Mutation_p.G667C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	667	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGAGTGACCCAAGGGAGCA	0.517000													17	42					5.3912e-06	7.05328e-06	0.006122	1	0
DNAH7	56171	broad.mit.edu	37	2	196602713	196602713	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:196602713G>A	ENST00000312428.6	-	65	12107	c.12007C>T	c.(12007-12009)Ccc>Tcc	p.P4003S	DNAH7_ENST00000409063.1_Missense_Mutation_p.P486S|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4003					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGTCAGAGGGAAGAGTCATG	0.438000													7	41					0	0	0.003080	0	0
COL27A1	85301	broad.mit.edu	37	9	116931301	116931301	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:116931301C>T	ENST00000356083.3	+	3	1857	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	489	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTTTATCCTCATCTCCTGCC	0.592000													165	254					0	0	0.014410	0	0
SERHL	94009	broad.mit.edu	37	22	42905037	42905037	+	RNA	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:42905037G>A	ENST00000359906.2	+	0	618					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						TCTGCAGGCAGAGAACAGCAT	0.557000													28	32					0	0	0.007291	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	58					0	0	0.009096	0	0
SUCO	51430	broad.mit.edu	37	1	172526519	172526519	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:172526519T>A	ENST00000367723.4	+	5	1141	c.1017T>A	c.(1015-1017)gcT>gcA	p.A339A	SUCO_ENST00000608151.1_Silent_p.A340A|SUCO_ENST00000610051.1_Silent_p.A144A|SUCO_ENST00000263688.3_Silent_p.A181A	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		ATGCTAGTGCTCCAATTGAAC	0.433000													169	75					0	0	0.014410	0	0
HIRA	7290	broad.mit.edu	37	22	19384471	19384471	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:19384471C>T	ENST00000263208.5	-	7	750		c.e7-1		HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000546308.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTAGAATTTCTGTGAAGAAA	0.483000													13	64					0	0	0.016723	0	0
ZFP28	140612	broad.mit.edu	37	19	57058946	57058946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:57058946C>T	ENST00000301318.3	+	3	441	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Nonsense_Mutation_p.Q124*	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	124	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GAACCCCATTCAGAGGAACTT	0.527000													19	94					0	0	0.006122	0	0
NCF2	4688	broad.mit.edu	37	1	183532431	183532431	+	Missense_Mutation	SNP	G	G	A	rs145970396		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:183532431G>A	ENST00000413720.1	-	12	1328	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	NCF2_ENST00000418089.1_Missense_Mutation_p.R316W|NCF2_ENST00000367536.1_Missense_Mutation_p.R397W|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367535.3_Missense_Mutation_p.R397W	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	397	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTGCTGTCCCGAGGCCGATAG	0.522000													31	104					0	0	0.010818	0	0
EZR	7430	broad.mit.edu	37	6	159206483	159206483	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:159206483C>G	ENST00000367075.3	-	5	493	c.325G>C	c.(325-327)Gga>Cga	p.G109R	EZR_ENST00000337147.7_Missense_Mutation_p.G109R|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Missense_Mutation_p.G77R	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	109	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTAAGGATTCCTTCCTTCACT	0.532000			T	ROS1	NSCLC								6	51					0	0	0.001984	0	0
LECT1	11061	broad.mit.edu	37	13	53286974	53286974	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:53286974C>G	ENST00000448904.2	-	5	609	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	LECT1_ENST00000377962.3_Missense_Mutation_p.E167Q	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	167	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AGAGAATTTTCTTCATATTTG	0.403000													23	51					0	0	0.018920	0	0
MANSC1	54682	broad.mit.edu	37	12	12483751	12483751	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:12483751C>G	ENST00000535902.1	-	4	1069	c.506G>C	c.(505-507)aGa>aCa	p.R169T	MANSC1_ENST00000545735.1_Missense_Mutation_p.R88T|MANSC1_ENST00000396349.3_Missense_Mutation_p.R135T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	169						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AAGTGTGTCTCTCCATGAGAT	0.448000													16	100					0	0	0.004990	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919098	97919098	+	RNA	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:97919098G>C	ENST00000534948.1	+	0	3876							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGTGACTAAGGAGCCTTGCAA	0.433000													3	23					0	0	0.004672	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194090	160194090	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:160194090T>A	ENST00000392783.2	-	32	6143	c.5648A>T	c.(5647-5649)aAc>aTc	p.N1883I	BAZ2B_ENST00000343439.5_Missense_Mutation_p.N1783I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.N1849I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.N1847I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCTTTCAATGTTCCGCTCCAA	0.483000													35	89					0	0	0.015359	0	0
KRT12	3859	broad.mit.edu	37	17	39019991	39019991	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:39019991C>T	ENST00000251643.4	-	4	956	c.933G>A	c.(931-933)caG>caA	p.Q311Q		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	311	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CCTTCCGATTCTGCTCAGCGA	0.547000													63	33					0	0	0.014410	0	0
SETX	23064	broad.mit.edu	37	9	135158707	135158707	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:135158707C>G	ENST00000372169.2	-	19	6672	c.6490G>C	c.(6490-6492)Gag>Cag	p.E2164Q	SETX_ENST00000224140.5_Missense_Mutation_p.E2164Q|SETX_ENST00000393220.1_Missense_Mutation_p.E2164Q			Q7Z333	SETX_HUMAN	senataxin	2164					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAGCAGACTCAAGTAGTAAA	0.483000													4	116					0	0	0.009096	0	0
CNGB1	1258	broad.mit.edu	37	16	57935315	57935315	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:57935315C>T	ENST00000564448.1	-	29	2959	c.2899G>A	c.(2899-2901)Gac>Aac	p.D967N	CNGB1_ENST00000251102.8_Missense_Mutation_p.D973N			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	973					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TTCAGCATGTCAAAGATCATC	0.572000													67	197					0	0	0.014410	0	0
ABCA12	26154	broad.mit.edu	37	2	215851389	215851389	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:215851389G>A	ENST00000272895.7	-	28	4259	c.4040C>T	c.(4039-4041)gCc>gTc	p.A1347V	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1029V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1347	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCCATGCAGGGCAACCCCGAC	0.438000													4	64					0	0	0.014758	0	0
HFM1	164045	broad.mit.edu	37	1	91784914	91784914	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:91784914T>C	ENST00000370425.3	-	24	2714	c.2616A>G	c.(2614-2616)atA>atG	p.I872M	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.I551M|HFM1_ENST00000294696.5_Missense_Mutation_p.I104M	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	872	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAAAATCTTGTATGGGAATGC	0.353000													19	13					0	0	0.010504	0	0
GUSBP11	91316	broad.mit.edu	37	22	23981095	23981095	+	RNA	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:23981095G>T	ENST00000455485.1	-	0	3394				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA																							AGGACGGCAGGAACAGAATGA	0.572000													12	37					1.08611e-07	1.44814e-07	0.010729	1	0
SLC25A12	8604	broad.mit.edu	37	2	172749752	172749752	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:172749752C>T	ENST00000422440.2	-	2	66	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	SLC25A12_ENST00000392592.4_5'UTR|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	10					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGGATCCCCTCGCTTAGTTGT	0.393000													27	133					0	0	0.008361	0	0
PRDM16	63976	broad.mit.edu	37	1	3102752	3102752	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:3102752C>A	ENST00000378398.3	+	2	183	c.101C>A	c.(100-102)gCg>gAg	p.A34E	PRDM16_ENST00000511072.1_Missense_Mutation_p.A34E|PRDM16_ENST00000514189.1_Missense_Mutation_p.A34E|PRDM16_ENST00000441472.2_Missense_Mutation_p.A34E|PRDM16_ENST00000378391.2_Missense_Mutation_p.A34E|PRDM16_ENST00000442529.2_Missense_Mutation_p.A34E|PRDM16_ENST00000270722.5_Missense_Mutation_p.A34E			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	34					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.A34V(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCACAGCGCGGAGGACGAG	0.642000			T	EVI1	"""MDS, AML"""								17	111					1.33834e-09	1.8046e-09	0.007413	1	0
TBC1D17	79735	broad.mit.edu	37	19	50387778	50387778	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50387778G>C	ENST00000221543.5	+	12	1605	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.D403H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	436	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAACGAGGTGGATGCTTTCTG	0.592000													35	237					0	0	0.019004	0	0
NANOG	79923	broad.mit.edu	37	12	7942264	7942264	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:7942264C>G	ENST00000229307.4	+	1	273	c.54C>G	c.(52-54)gaC>gaG	p.D18E	NANOG_ENST00000526286.1_Missense_Mutation_p.D18E	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	18					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGCATCCGACTGTAAAGAAT	0.453000													22	112					0	0	0.016522	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147015815	147015815	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:147015815G>A	ENST00000265272.5	-	12	2114	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	JAKMIP2_ENST00000507386.1_Intron|JAKMIP2_ENST00000333010.6_Silent_p.F507F	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	549						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCTTAATGAAAAGTTGTT	0.468000													6	14					0	0	0.001984	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722117	50722117	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50722117C>A	ENST00000449103.1	-	15	2624	c.2484G>T	c.(2482-2484)ttG>ttT	p.L828F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L828F|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	828	IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGGACGCCCAAATTGGACC	0.647000													12	34					3.07112e-06	4.04961e-06	0.010729	1	0
SLC26A7	115111	broad.mit.edu	37	8	92301462	92301462	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:92301462C>A	ENST00000276609.3	+	3	531	c.292C>A	c.(292-294)Cat>Aat	p.H98N	SLC26A7_ENST00000309536.2_Missense_Mutation_p.H98N|SLC26A7_ENST00000523719.1_Missense_Mutation_p.H98N	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	98						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AATGGGACATCATGTTGCCAC	0.378000													21	199					0.000175454	0.000225314	0.010504	1	0
PLCH1	23007	broad.mit.edu	37	3	155203300	155203300	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:155203300T>A	ENST00000460012.1	-	22	3086	c.2729A>T	c.(2728-2730)gAg>gTg	p.E910V	PLCH1_ENST00000340059.7_Missense_Mutation_p.E948V|PLCH1_ENST00000414191.1_Missense_Mutation_p.E910V|PLCH1_ENST00000334686.6_Missense_Mutation_p.E910V|PLCH1_ENST00000447496.2_Missense_Mutation_p.E948V|PLCH1_ENST00000494598.1_Missense_Mutation_p.E928V			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	948					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTTGTGGCCTCGGACACAGA	0.522000													43	132					0	0	0.013114	0	0
STAB2	55576	broad.mit.edu	37	12	104096936	104096936	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:104096936A>G	ENST00000388887.2	+	35	3929	c.3725A>G	c.(3724-3726)aAt>aGt	p.N1242S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1242	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCTATGTAAATGAGGCTCCA	0.373000													20	48					0	0	0.008871	0	0
CELA2B	51032	broad.mit.edu	37	1	15813791	15813791	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:15813791T>A	ENST00000375910.3	+	7	676	c.651T>A	c.(649-651)ggT>ggA	p.G217G		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	217	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GAGACTCCGGTGGGCCGCTGA	0.562000													30	137					0	0	0.015359	0	0
SPERT	220082	broad.mit.edu	37	13	46287727	46287727	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:46287727C>G	ENST00000378966.3	+	2	875	c.459C>G	c.(457-459)ctC>ctG	p.L153L	SPERT_ENST00000310521.1_Silent_p.L189L			Q8NA61	SPERT_HUMAN	spermatid associated	189						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACCGGATGCTCAGCAAGGAGA	0.617000													13	74					0	0	0.020292	0	0
EXOC2	55770	broad.mit.edu	37	6	592509	592509	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:592509G>C	ENST00000230449.4	-	11	1287	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	384					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AACTGTGCATGAGCTGAAGGA	0.468000													19	46					0	0	0.007413	0	0
CPNE1	8904	broad.mit.edu	37	20	34219936	34219936	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:34219936T>A	ENST00000317619.3	-	8	862	c.468A>T	c.(466-468)ggA>ggT	p.G156G	CPNE1_ENST00000397445.1_Silent_p.G156G|CPNE1_ENST00000397446.1_Silent_p.G156G|CPNE1_ENST00000352393.4_Silent_p.G156G|CPNE1_ENST00000317677.5_Silent_p.G161G|CPNE1_ENST00000397443.1_Silent_p.G156G|CPNE1_ENST00000397442.1_Silent_p.G156G			Q99829	CPNE1_HUMAN	copine I	156	C2 2.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GATCTGATTTTCCCAGGAAGT	0.537000													25	162					0	0	0.021523	0	0
PTK2	5747	broad.mit.edu	37	8	141712710	141712710	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:141712710G>C	ENST00000522684.1	-	25	2555	c.2326C>G	c.(2326-2328)Cat>Gat	p.H776D	PTK2_ENST00000430260.2_Missense_Mutation_p.H86D|PTK2_ENST00000521059.1_Missense_Mutation_p.H776D|PTK2_ENST00000340930.3_Missense_Mutation_p.H776D|PTK2_ENST00000538769.1_Missense_Mutation_p.H444D|PTK2_ENST00000517887.1_Missense_Mutation_p.H820D|PTK2_ENST00000519419.1_Missense_Mutation_p.H820D|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000519465.1_Missense_Mutation_p.H404D|PTK2_ENST00000395218.2_Missense_Mutation_p.H776D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	776	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGAGGTCTATGATTCCATGAA	0.483000													20	139					0	0	0.012319	0	0
KIF20B	9585	broad.mit.edu	37	10	91477195	91477195	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:91477195C>G	ENST00000416354.1	+	10	1139	c.1067C>G	c.(1066-1068)aCt>aGt	p.T356S	KIF20B_ENST00000371728.3_Missense_Mutation_p.T356S|KIF20B_ENST00000260753.4_Missense_Mutation_p.T356S|KIF20B_ENST00000394289.2_Missense_Mutation_p.T356S			Q96Q89	KI20B_HUMAN	kinesin family member 20B	356	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGCATATTCACTGTTAAAATA	0.254000													2	4					0	0	0.004672	0	0
LRP2	4036	broad.mit.edu	37	2	170019001	170019001	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:170019001C>A	ENST00000263816.3	-	63	12153	c.11868G>T	c.(11866-11868)tgG>tgT	p.W3956C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3956	LDL-receptor class A 36.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTCATCGGACCAGTCACCAC	0.388000													27	47					3.65163e-15	5.04589e-15	0.006320	1	0
ACAP1	9744	broad.mit.edu	37	17	7250491	7250491	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:7250491G>A	ENST00000158762.3	+	14	1479	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	425	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CGACTGCCGGGAGCCAGCCCC	0.657000													20	60					0	0	0.018920	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841336	4841336	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:4841336C>T	ENST00000225665.7	-	7	1111	c.771G>A	c.(769-771)ccG>ccA	p.P257P	SLC25A11_ENST00000544061.2_Silent_p.P206P	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	257					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TCTTGTATTCCGGCTTCCCAT	0.627000													34	140					0	0	0.021022	0	0
PLD5	200150	broad.mit.edu	37	1	242383316	242383316	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:242383316C>A	ENST00000536534.2	-	5	950	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C	PLD5_ENST00000427495.1_Missense_Mutation_p.G175C|PLD5_ENST00000442594.2_Missense_Mutation_p.G145C			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5		PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAGTCCAAACCGGCACTGCCG	0.517000													5	43					0.000602214	0.000762805	0.014758	1	0
SEMA4F	10505	broad.mit.edu	37	2	74900804	74900804	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:74900804C>T	ENST00000357877.2	+	7	820	c.671C>T	c.(670-672)gCc>gTc	p.A224V	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	224	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTATTCCCAGCCCCAGCCTTT	0.592000													28	57					0	0	0.005443	0	0
COL4A3	1285	broad.mit.edu	37	2	228148486	228148486	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:228148486A>T	ENST00000396578.3	+	33	2822	c.2660A>T	c.(2659-2661)gAa>gTa	p.E887V	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	887	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCCATAGGTGAAGATGGAGTG	0.458000													40	111					0	0	0.009718	0	0
GNAO1	2775	broad.mit.edu	37	16	56362664	56362664	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:56362664A>G	ENST00000262494.7	+	4	685	c.425A>G	c.(424-426)aAc>aGc	p.N142S	GNAO1_ENST00000262493.6_Missense_Mutation_p.N142S	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	142					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GAGTGCTTCAACCGGTCCCGG	0.602000													27	74					0	0	0.005443	0	0
TCF3	6929	broad.mit.edu	37	19	1612404	1612404	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:1612404C>T	ENST00000344749.5	-	18	1681	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.E539K|TCF3_ENST00000453954.2_Missense_Mutation_p.E454K|TCF3_ENST00000262965.5_Intron	NM_001136139.2	NP_001129611.1	P15923	TFE2_HUMAN	transcription factor 3	542					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCTTTCTCCTCCAGGGAC	0.657000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								30	96					0	0	0.021022	0	0
OR5T1	390155	broad.mit.edu	37	11	56043764	56043764	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:56043764C>A	ENST00000313033.2	+	1	736	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTTGTGGGCTCTATTGAGATA	0.408000													21	97					1.96292e-10	2.66397e-10	0.010504	1	0
FAM49B	51571	broad.mit.edu	37	8	130883726	130883726	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:130883726C>G	ENST00000519824.2	-	4	363	c.90G>C	c.(88-90)gaG>gaC	p.E30D	FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000519110.1_Missense_Mutation_p.E30D|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000522746.1_Missense_Mutation_p.E30D|FAM49B_ENST00000519540.1_Missense_Mutation_p.E30D|FAM49B_ENST00000517654.1_Missense_Mutation_p.E30D|FAM49B_ENST00000523509.1_Missense_Mutation_p.E30D|FAM49B_ENST00000401979.2_Missense_Mutation_p.E30D	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	30										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CCTTCTCAGACTCTGTAGGCT	0.383000													9	59					0	0	0.008291	0	0
ACRBP	84519	broad.mit.edu	37	12	6749264	6749264	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:6749264C>G	ENST00000229243.2	-	8	1480	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.E430Q	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	463						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTAAGGAACTCAGTCTGGAGC	0.562000													12	65					0	0	0.020292	0	0
GPR97	222487	broad.mit.edu	37	16	57712121	57712121	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:57712121G>C	ENST00000333493.4	+	4	546	c.385G>C	c.(385-387)Gac>Cac	p.D129H	GPR97_ENST00000450388.3_Missense_Mutation_p.D9H|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	129					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAAGCCCCCTGACAGAGTGCG	0.587000													26	153					0	0	0.006320	0	0
RXRB	6257	broad.mit.edu	37	6	33165552	33165552	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:33165552G>A	ENST00000374680.3	-	4	1018	c.807C>T	c.(805-807)ggC>ggT	p.G269G	RXRB_ENST00000413614.2_Silent_p.G173G|RXRB_ENST00000374685.4_Silent_p.G269G|RXRB_ENST00000544186.1_Silent_p.G79G	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	269					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCCTCTTCATGCCAGTGGCCA	0.577000													7	64					0	0	0.003080	0	0
FPR1	2357	broad.mit.edu	37	19	52249881	52249881	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:52249881G>A	ENST00000595042.1	-	3	508	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	FPR1_ENST00000304748.4_Missense_Mutation_p.R123C	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	123					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAAACACAGCGGTCCAGAGCA	0.552000													39	79					0	0	0.005524	0	0
SNX29P2	440352	broad.mit.edu	37	16	29367142	29367142	+	RNA	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:29367142C>G	ENST00000398878.3	+	0	968				SNX29P2_ENST00000507381.1_RNA																							AGGAGGTCCTCAACAAGCACG	0.642000													8	71					0	0	0.008291	0	0
CABP4	57010	broad.mit.edu	37	11	67223786	67223786	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:67223786C>T	ENST00000438189.2	+	4	443	c.99C>T	c.(97-99)ttC>ttT	p.F33F	CABP4_ENST00000325656.5_Silent_p.F138F			P57796	CABP4_HUMAN	calcium binding protein 4	138					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGCCGCCTTCGAGGAGTTTG	0.652000													29	163					0	0	0.012213	0	0
STXBP5	134957	broad.mit.edu	37	6	147648324	147648324	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:147648324C>G	ENST00000367481.3	+	18	2100	c.1992C>G	c.(1990-1992)ctC>ctG	p.L664L	STXBP5_ENST00000321680.6_Silent_p.L664L|STXBP5_ENST00000367480.3_Silent_p.L664L|STXBP5_ENST00000179882.6_Silent_p.L335L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	664					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CAGTGCTGCTCAACCTGGGCA	0.428000													24	48					0	0	0.021523	0	0
ASTN1	460	broad.mit.edu	37	1	176913088	176913088	+	Silent	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:176913088G>T	ENST00000367654.3	-	14	2551	c.2340C>A	c.(2338-2340)ccC>ccA	p.P780P	ASTN1_ENST00000424564.2_Silent_p.P772P|ASTN1_ENST00000361833.2_Silent_p.P772P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.P772P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATTCTCCAGGGGCACAGTGG	0.512000													17	47					3.45872e-05	4.48293e-05	0.004007	1	0
SIDT2	51092	broad.mit.edu	37	11	117052804	117052804	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:117052804A>T	ENST00000324225.4	+	4	1030	c.499A>T	c.(499-501)Aca>Tca	p.T167S	SIDT2_ENST00000530948.1_Intron|SIDT2_ENST00000431081.2_Missense_Mutation_p.T167S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	167						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CTTCAATACCACAGCAGCACA	0.597000													6	23					0	0	0.003080	0	0
GSG1	83445	broad.mit.edu	37	12	13240941	13240941	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:13240941G>A	ENST00000396302.3	-	4	748	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	GSG1_ENST00000537302.1_Intron|GSG1_ENST00000351606.6_Missense_Mutation_p.H220Y|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000324458.8_Silent_p.F178F|GSG1_ENST00000432710.2_Silent_p.F155F|GSG1_ENST00000337630.6_Silent_p.F142F	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GGAAGCTGATGAATTGAAGTC	0.512000													22	141					0	0	0.004656	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768066	13768066	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:13768066A>T	ENST00000609686.1	-	7	1845	c.1636T>A	c.(1636-1638)Tca>Aca	p.S546T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCAGAAGGTGAGACAGTCCCA	0.498000													32	76					0	0	0.015359	0	0
COL7A1	1294	broad.mit.edu	37	3	48612135	48612135	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:48612135C>A	ENST00000328333.8	-	77	6475	c.6368G>T	c.(6367-6369)gGt>gTt	p.G2123V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2091V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2123	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTGGTCACCATTGCTGCC	0.597000													9	47					2.17888e-05	2.82848e-05	0.006214	1	0
C12orf45	121053	broad.mit.edu	37	12	105388290	105388290	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:105388290C>G	ENST00000552951.1	+	4	417	c.374C>G	c.(373-375)tCa>tGa	p.S125*	C12orf45_ENST00000280749.5_3'UTR|C12orf45_ENST00000548583.1_3'UTR	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	125										large_intestine(1)|lung(2)	3						CAGTCGGATTCAAAAGAAGTG	0.393000													22	30					0	0	0.012319	0	0
ZNF445	353274	broad.mit.edu	37	3	44488486	44488486	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:44488486C>T	ENST00000425708.2	-	7	3018	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	ZNF445_ENST00000396077.2_Missense_Mutation_p.E893K			P59923	ZN445_HUMAN	zinc finger protein 445	893					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AAAGGTCTCTCTGTAGAGTGG	0.453000													27	95					0	0	0.007291	0	0
MANBA	4126	broad.mit.edu	37	4	103571706	103571706	+	Missense_Mutation	SNP	G	G	C	rs141009346		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:103571706G>C	ENST00000226578.4	-	13	1956	c.1857C>G	c.(1855-1857)atC>atG	p.I619M	MANBA_ENST00000505239.1_Missense_Mutation_p.I562M	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	619					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GAGTAAGGTAGATGGTATCTT	0.363000													7	32					0	0	0.003080	0	0
APCDD1	147495	broad.mit.edu	37	18	10487667	10487667	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:10487667G>A	ENST00000355285.5	+	5	1531	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K		NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GTGCGGGGCCGAGGGCTCCTG	0.582000													32	84					0	0	0.013726	0	0
FCER1A	2205	broad.mit.edu	37	1	159273962	159273962	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:159273962A>C	ENST00000368115.1	+	4	420	c.321A>C	c.(319-321)gaA>gaC	p.E107D	FCER1A_ENST00000368114.1_Missense_Mutation_p.E74D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	107	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGTACCTGGAAGTCTTCAGTG	0.403000													6	87					0	0	0.001984	0	0
CTSG	1511	broad.mit.edu	37	14	25045381	25045381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:25045381C>A	ENST00000216336.2	-	1	85	c.49G>T	c.(49-51)Gag>Tag	p.E17*		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	17					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCACCTGCCTCAGCCCCAGTG	0.542000													5	10					0.00116845	0.00147779	0.001168	1	0
LPP	4026	broad.mit.edu	37	3	188327375	188327375	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:188327375G>A	ENST00000312675.4	+	6	1102	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.G286R|LPP_ENST00000543006.1_Missense_Mutation_p.G286R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	286	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCCGGAGCCTGGGTATGGGTA	0.567000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								11	96					0	0	0.010729	0	0
BIRC6	57448	broad.mit.edu	37	2	32743965	32743965	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:32743965C>T	ENST00000421745.2	+	57	11709	c.11575C>T	c.(11575-11577)Cat>Tat	p.H3859Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3859					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCGTACTCTTCATTTGCCAGT	0.363000													7	36					0	0	0.004482	0	0
LPHN2	23266	broad.mit.edu	37	1	82421724	82421724	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:82421724C>G	ENST00000370728.1	+	13	2630	c.1985C>G	c.(1984-1986)tCa>tGa	p.S662*	LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S649*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S662*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S587*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S649*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S649*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S662*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S662*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S649*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S662*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S662*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S662*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S649*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S649*			O95490	LPHN2_HUMAN	latrophilin 2	662					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACAAGGGTCTCAATGCCCACA	0.353000													15	19					0	0	0.007413	0	0
RPL11	6135	broad.mit.edu	37	1	24021182	24021182	+	Silent	SNP	C	C	T	rs1059937		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:24021182C>T	ENST00000374550.3	+	4	342	c.297C>T	c.(295-297)ttC>ttT	p.F99F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	99					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AAAACAACTTCTCAGATACTG	0.438000													84	60					0	0	0.014410	0	0
CYP3A7	1551	broad.mit.edu	37	7	99319922	99319922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:99319922C>T	ENST00000336374.2	-	3	217	c.215G>A	c.(214-216)tGg>tAg	p.W72*		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	72					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACTCACCCCCAGACTTTTCT	0.388000													5	39					0	0	0.001168	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129260	248129260	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:248129260G>A	ENST00000366480.3	+	1	726	c.627G>A	c.(625-627)caG>caA	p.Q209Q	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACACCTCCCAGTATGAGTATA	0.443000													17	28					0	0	0.004007	0	0
EEA1	8411	broad.mit.edu	37	12	93174109	93174109	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:93174109C>G	ENST00000322349.8	-	24	3679	c.3415G>C	c.(3415-3417)Gaa>Caa	p.E1139Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1139	Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTAGTGATTTCTTTTTCTTGT	0.308000													5	20					0	0	0.001168	0	0
COL27A1	85301	broad.mit.edu	37	9	116930564	116930564	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:116930564G>A	ENST00000356083.3	+	3	1120	c.729G>A	c.(727-729)caG>caA	p.Q243Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	243					cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACACGTACCAGTCCCCACTGG	0.567000													7	162					0	0	0.001984	0	0
PLS3	5358	broad.mit.edu	37	X	114869355	114869355	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:114869355G>C	ENST00000420625.2	+	7	879	c.745G>C	c.(745-747)Gaa>Caa	p.E249Q	PLS3_ENST00000539310.1_Missense_Mutation_p.E204Q|PLS3_ENST00000289290.3_Missense_Mutation_p.E204Q|PLS3_ENST00000537301.1_Missense_Mutation_p.E227Q|PLS3_ENST00000355899.3_Missense_Mutation_p.E249Q	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	249	Actin-binding 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						AAGCAGGAATGAAGGTAATGG	0.408000													26	51					0	0	0.007291	0	0
IFITM3	10410	broad.mit.edu	37	11	319922	319922	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:319922C>T	ENST00000399808.4	-	2	554	c.318G>A	c.(316-318)ctG>ctA	p.L106L	RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.L85L|IFITM3_ENST00000526811.1_Silent_p.L85L	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	106					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCAGATGTTCAGGCACTTGG	0.587000													48	48					0	0	0.014410	0	0
POM121	9883	broad.mit.edu	37	7	72413873	72413873	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:72413873A>G	ENST00000395270.1	+	14	3587	c.2546A>G	c.(2545-2547)aAt>aGt	p.N849S	POM121_ENST00000257622.4_Missense_Mutation_p.N849S|POM121_ENST00000358357.3_Missense_Mutation_p.N849S|POM121_ENST00000434423.2_Missense_Mutation_p.N1114S|POM121_ENST00000446813.1_Missense_Mutation_p.N849S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1114	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTTGGGATCAATGTGGCCACC	0.637000													54	17					0	0	0.014410	0	0
USP8	9101	broad.mit.edu	37	15	50784944	50784944	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:50784944C>G	ENST00000433963.1	+	16	2781	c.2281C>G	c.(2281-2283)Cag>Gag	p.Q761E	USP8_ENST00000425032.3_Missense_Mutation_p.Q655E|USP8_ENST00000396444.3_Missense_Mutation_p.Q761E|USP8_ENST00000307179.4_Missense_Mutation_p.Q761E			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	761					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTGCTTCTCAGATTCGGAA	0.388000													19	65					0	0	0.012319	0	0
DHX30	22907	broad.mit.edu	37	3	47887268	47887268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:47887268G>T	ENST00000446256.2	+	11	1473	c.901G>T	c.(901-903)Gag>Tag	p.E301*	DHX30_ENST00000457607.1_Nonsense_Mutation_p.E368*|DHX30_ENST00000348968.4_Nonsense_Mutation_p.E312*|DHX30_ENST00000445061.1_Nonsense_Mutation_p.E340*	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	340						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGAGCTGGGTGAGACCCAGCG	0.597000													35	26					6.05902e-23	8.54189e-23	0.017118	1	0
CTNND1	1500	broad.mit.edu	37	11	57569394	57569394	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:57569394C>G	ENST00000524630.1	+	7	1659	c.1146C>G	c.(1144-1146)gtC>gtG	p.V382V	CTNND1_ENST00000532649.1_Silent_p.V328V|CTNND1_ENST00000361391.6_Silent_p.V382V|CTNND1_ENST00000529919.1_Silent_p.V382V|CTNND1_ENST00000530094.1_Silent_p.V281V|CTNND1_ENST00000526938.1_Silent_p.V382V|CTNND1_ENST00000360682.6_Silent_p.V382V|CTNND1_ENST00000428599.2_Silent_p.V382V|CTNND1_ENST00000529986.1_Silent_p.V281V|CTNND1_ENST00000527467.1_Silent_p.V59V|CTNND1_ENST00000399050.4_Silent_p.V382V|CTNND1_ENST00000529526.1_Silent_p.V328V|CTNND1_ENST00000361332.4_Silent_p.V382V|CTNND1_ENST00000426142.2_Silent_p.V281V|CTNND1_ENST00000532245.1_Silent_p.V281V|CTNND1_ENST00000415361.2_Silent_p.V281V|CTNND1_ENST00000530748.1_Silent_p.V328V|CTNND1_ENST00000358694.6_Silent_p.V382V|CTNND1_ENST00000529873.1_Silent_p.V328V|CTNND1_ENST00000533667.1_Silent_p.V59V|CTNND1_ENST00000528621.1_Silent_p.V328V|CTNND1_ENST00000361796.4_Silent_p.V382V|CTNND1_ENST00000525902.1_Silent_p.V59V|CTNND1_ENST00000532787.1_Silent_p.V281V|CTNND1_ENST00000526772.1_Silent_p.V59V|CTNND1_ENST00000534579.1_Silent_p.V328V|CTNND1_ENST00000532844.1_Silent_p.V328V|CTNND1_ENST00000532463.1_Silent_p.V281V|CTNND1_ENST00000399039.4_Silent_p.V382V|CTNND1_ENST00000531014.1_Silent_p.V59V|CTNND1_ENST00000526357.1_Silent_p.V328V|CTNND1_ENST00000528232.1_Silent_p.V281V			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	382					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGGATGCTGTCAAGTCCAATG	0.552000													16	94					0	0	0.004007	0	0
REV1	51455	broad.mit.edu	37	2	100020219	100020219	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:100020219C>T	ENST00000258428.3	-	19	3333	c.3105G>A	c.(3103-3105)gcG>gcA	p.A1035A	REV1_ENST00000393445.3_Silent_p.A1034A|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1035					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.A1035A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGATCATACGCTGCTTTCA	0.498000								Direct reversal of damage					54	70					0	0	0.014410	0	0
GPR12	2835	broad.mit.edu	37	13	27333290	27333290	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:27333290C>A	ENST00000405846.3	-	2	896	c.675G>T	c.(673-675)atG>atT	p.M225I	GPR12_ENST00000381436.2_Missense_Mutation_p.M225I	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	225						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGGCGTGCCTCATCACAATCT	0.567000													37	36					1.06647e-15	1.47611e-15	0.017118	1	0
TBC1D4	9882	broad.mit.edu	37	13	75900527	75900527	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:75900527T>A	ENST00000377636.3	-	10	2185	c.1839A>T	c.(1837-1839)acA>acT	p.T613T	TBC1D4_ENST00000431480.2_Silent_p.T613T|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.T613T	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	613						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACGCTGGCGGTGTCCCTGGTG	0.587000													8	64					0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881823	228881823	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:228881823C>T	ENST00000392056.3	-	7	3793	c.3747G>A	c.(3745-3747)ctG>ctA	p.L1249L	SPHKAP_ENST00000344657.5_Silent_p.L1249L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1249						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTCACTGTCAGCCTGGAGC	0.567000													13	91					0	0	0.016723	0	0
C12orf4	57102	broad.mit.edu	37	12	4599751	4599751	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:4599751G>A	ENST00000261250.3	-	13	1590	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	C12orf4_ENST00000545746.1_Silent_p.F501F	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	501										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTTCCATCATGAAACCTAAAA	0.388000													7	24					0	0	0.003080	0	0
CHL1	10752	broad.mit.edu	37	3	424356	424356	+	Splice_Site	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:424356T>A	ENST00000256509.2	+	18	2818		c.e18+2		CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CACCAGCAGGTATGCAGGTTC	0.413000													7	14					0	0	0.003080	0	0
OPCML	4978	broad.mit.edu	37	11	132812893	132812893	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:132812893C>A	ENST00000331898.7	-	1	673	c.95G>T	c.(94-96)cGc>cTc	p.R32L	OPCML_ENST00000524381.1_Missense_Mutation_p.R25L|OPCML_ENST00000374778.4_5'UTR|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000541867.1_Missense_Mutation_p.R32L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	32					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATCTCCGCTGCGCACGGGCAC	0.647000													54	30					1.3268e-25	1.88001e-25	0.014410	1	0
TNC	3371	broad.mit.edu	37	9	117800543	117800543	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:117800543T>C	ENST00000350763.4	-	20	5920	c.5509A>G	c.(5509-5511)Aaa>Gaa	p.K1837E	TNC_ENST00000535648.1_Missense_Mutation_p.K1382E|TNC_ENST00000542877.1_Missense_Mutation_p.K1474E|TNC_ENST00000341037.4_Missense_Mutation_p.K1655E|TNC_ENST00000346706.3_Missense_Mutation_p.K1291E|TNC_ENST00000345230.3_Missense_Mutation_p.K1200E|TNC_ENST00000340094.3_Missense_Mutation_p.K1473E|TNC_ENST00000537320.1_Missense_Mutation_p.K1200E|TNC_ENST00000423613.2_Missense_Mutation_p.K1564E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1837	Fibronectin type-III 14.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACCTTACCTTTCTCGCCTGTG	0.517000													82	94					0	0	0.014410	0	0
NLRP10	338322	broad.mit.edu	37	11	7984932	7984932	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:7984932C>T	ENST00000328600.2	-	1	272	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	37	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCCTCAGACAGGGTCATAT	0.542000													25	52					0	0	0.016522	0	0
C8orf76	84933	broad.mit.edu	37	8	124253563	124253563	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:124253563G>A	ENST00000276704.4	-	1	75	c.24C>T	c.(22-24)ttC>ttT	p.F8F	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	8							binding	p.F8L(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCGCCGCCGAACAACCAGC	0.716000													10	49					0	0	0.010729	0	0
RPLP0	6175	broad.mit.edu	37	12	120635157	120635157	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:120635157C>G	ENST00000551150.1	-	6	1075	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	RPLP0_ENST00000313104.5_Missense_Mutation_p.E192Q|RPLP0_ENST00000552292.1_Missense_Mutation_p.E44Q|RPLP0_ENST00000392514.4_Missense_Mutation_p.E254Q|RPLP0_ENST00000228306.4_Missense_Mutation_p.E254Q|RPLP0_ENST00000546989.1_Missense_Mutation_p.E218Q			P05388	RLA0_HUMAN	ribosomal protein, large, P0	254					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATCCGTCTCCACAGACAAG	0.507000													21	105					0	0	0.014323	0	0
BAGE2	85319	broad.mit.edu	37	21	11039098	11039098	+	RNA	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:11039098T>A	ENST00000470054.1	-	0	1105									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTTTCTCCTTGTAGCCTTT	0.403000													18	281					0	0	0.007413	0	0
NDRG1	10397	broad.mit.edu	37	8	134251299	134251299	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:134251299G>C	ENST00000414097.2	-	16	1874	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	NDRG1_ENST00000518176.1_Missense_Mutation_p.S83C|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000323851.7_Missense_Mutation_p.S336C|NDRG1_ENST00000354944.5_Missense_Mutation_p.S266C|NDRG1_ENST00000518066.1_Missense_Mutation_p.S45C|NDRG1_ENST00000537882.1_Missense_Mutation_p.S255C|NDRG1_ENST00000522476.1_Missense_Mutation_p.S270C	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	336					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCCATCCAGAGAAGTGACGCT	0.687000			T	ERG	prostate								5	41					0	0	0.014758	0	0
HPD	3242	broad.mit.edu	37	12	122286936	122286936	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:122286936G>T	ENST00000543163.1	-	10	893	c.448C>A	c.(448-450)Cct>Act	p.P150T	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000289004.4_Missense_Mutation_p.P189T	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	189					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTGATCAGGCTGGTTTCCC	0.602000													12	89					2.68362e-12	3.67186e-12	0.013537	1	0
ITPKA	3706	broad.mit.edu	37	15	41794660	41794660	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:41794660C>T	ENST00000260386.5	+	5	1122	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	357					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCAGGTGCTTCGCGTCTTTGA	0.622000													33	67					0	0	0.017118	0	0
NAGPA	51172	broad.mit.edu	37	16	5075523	5075523	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:5075523C>T	ENST00000312251.3	-	10	1523	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	NAGPA_ENST00000381955.3_Missense_Mutation_p.E468K|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	502					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	TGCTCCTTCTCTGCGGCCAGA	0.647000													58	238					0	0	0.014410	0	0
RPH3A	22895	broad.mit.edu	37	12	113314469	113314469	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:113314469G>A	ENST00000389385.4	+	13	1466	c.969G>A	c.(967-969)ggG>ggA	p.G323G	RPH3A_ENST00000415485.3_Silent_p.G323G|RPH3A_ENST00000548866.1_Silent_p.G274G|RPH3A_ENST00000447659.2_Silent_p.G274G|RPH3A_ENST00000543106.2_Silent_p.G323G|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.G323G|RPH3A_ENST00000551052.1_Silent_p.G319G	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	323	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCGACCCTGGGACCACTGCCC	0.592000													7	17					0	0	0.003080	0	0
SOX5	6660	broad.mit.edu	37	12	23893833	23893833	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:23893833G>T	ENST00000546136.1	-	4	672	c.670C>A	c.(670-672)Caa>Aaa	p.Q224K	SOX5_ENST00000451604.2_Missense_Mutation_p.Q237K|SOX5_ENST00000537393.1_Missense_Mutation_p.Q202K|SOX5_ENST00000381381.2_Missense_Mutation_p.Q224K|SOX5_ENST00000541536.1_Missense_Mutation_p.Q224K|SOX5_ENST00000545921.1_Missense_Mutation_p.Q227K|SOX5_ENST00000541847.1_Missense_Mutation_p.Q227K|SOX5_ENST00000309359.1_Missense_Mutation_p.Q224K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	237					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGCTCCATTTGCTGACGCTGT	0.498000													7	57					0.00198382	0.00250147	0.001984	1	0
CDHR2	54825	broad.mit.edu	37	5	176008383	176008383	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176008383C>G	ENST00000510636.1	+	17	2132	c.1858C>G	c.(1858-1860)Ctg>Gtg	p.L620V	CDHR2_ENST00000506348.1_Missense_Mutation_p.L620V|CDHR2_ENST00000261944.5_Missense_Mutation_p.L620V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	620	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAACAGCCGTCTGCTCTTCAA	0.632000													34	9					0	0	0.019004	0	0
GPAT2	150763	broad.mit.edu	37	2	96687951	96687951	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:96687951G>C	ENST00000434632.1	-	23	2803	c.2344C>G	c.(2344-2346)Cag>Gag	p.Q782E	GPAT2_ENST00000377137.3_3'UTR|GPAT2_ENST00000359548.4_Missense_Mutation_p.Q782E|GPAT2_ENST00000453542.1_Missense_Mutation_p.Q711E			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	782					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AGTTTTTCCTGATTGTCCAGG	0.562000													16	25					0	0	0.008871	0	0
CUL7	9820	broad.mit.edu	37	6	43006375	43006375	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:43006375T>C	ENST00000535468.1	-	24	4834	c.4748A>G	c.(4747-4749)aAt>aGt	p.N1583S	CUL7_ENST00000265348.3_Missense_Mutation_p.N1499S	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1499					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AATCGCCTGATTGAGCATGTC	0.587000													26	89					0	0	0.004656	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002620	41002620	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:41002620G>C	ENST00000244565.3	-	2	282	c.194C>G	c.(193-195)tCa>tGa	p.S65*	UNC5CL_ENST00000373164.1_Nonsense_Mutation_p.S65*	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	65					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGCTGCCTTGAGACCTCATT	0.587000													24	131					0	0	0.018920	0	0
PTOV1	53635	broad.mit.edu	37	19	50361229	50361229	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50361229G>C	ENST00000391842.1	+	8	1043	c.873G>C	c.(871-873)gaG>gaC	p.E291D	PTOV1_ENST00000221557.9_Missense_Mutation_p.E259D|PTOV1_ENST00000600603.1_Missense_Mutation_p.E259D|PTOV1_ENST00000599732.1_Missense_Mutation_p.E291D|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601675.1_Missense_Mutation_p.E291D|PTOV1_ENST00000601638.1_Missense_Mutation_p.E259D	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	291	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACCAGGGGGAGATCCTGTGAG	0.652000													4	123					0	0	0.009096	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51528086	51528086	+	Missense_Mutation	SNP	A	A	G	rs150363383	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:51528086A>G	ENST00000336617.3	+	10	1186	c.787A>G	c.(787-789)Act>Gct	p.T263A	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	263					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AGAAGATTACACTAAGTTTAA	0.368000													12	8					0	0	0.016723	0	0
NUBP2	10101	broad.mit.edu	37	16	1836612	1836612	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:1836612A>G	ENST00000262302.9	+	2	211	c.91A>G	c.(91-93)Atc>Gtc	p.I31V	NUBP2_ENST00000565134.1_Missense_Mutation_p.I31V|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000565987.1_5'UTR|NUBP2_ENST00000568706.1_5'UTR	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	31						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAAAAGCACCATCTCCACGGA	0.662000													13	85					0	0	0.016723	0	0
TENM2	57451	broad.mit.edu	37	5	167625892	167625892	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:167625892A>T	ENST00000519204.1	+	15	2690	c.2572A>T	c.(2572-2574)Act>Tct	p.T858S	TENM2_ENST00000545108.1_Missense_Mutation_p.T979S|TENM2_ENST00000403607.2_Missense_Mutation_p.T803S|TENM2_ENST00000520394.1_Missense_Mutation_p.T747S|TENM2_ENST00000518659.1_Missense_Mutation_p.T979S					teneurin transmembrane protein 2																		TGCTTCCTTGACTCTACACTT	0.547000													45	26					0	0	0.014410	0	0
DDX54	79039	broad.mit.edu	37	12	113600964	113600964	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:113600964C>T	ENST00000314045.7	-	16	2081	c.2054G>A	c.(2053-2055)cGg>cAg	p.R685Q	DDX54_ENST00000306014.5_Missense_Mutation_p.R685Q	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	685					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCCTTGGGCCGGTAGGGGAT	0.662000													42	20					0	0	0.009718	0	0
MCF2L	23263	broad.mit.edu	37	13	113556592	113556592	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:113556592G>A	ENST00000375608.3	+	2	134	c.76G>A	c.(76-78)Gag>Aag	p.E26K	MCF2L_ENST00000397036.1_Missense_Mutation_p.E26K|MCF2L_ENST00000442652.2_Missense_Mutation_p.E26K			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	26					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				ACGGCCCAATGAGGCCAAAAA	0.488000													11	63					0	0	0.008291	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646659	19646659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:19646659G>A	ENST00000457500.2	-	2	609	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000444455.1_Nonsense_Mutation_p.Q94*|ALDH3A1_ENST00000225740.6_Nonsense_Mutation_p.Q94*|ALDH3A1_ENST00000395555.3_Nonsense_Mutation_p.Q94*|ALDH3A1_ENST00000494157.2_Nonsense_Mutation_p.Q21*	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	94					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TCGTCCTGCTGAGTCTGGGGC	0.602000													26	161					0	0	0.021523	0	0
CYP51A1	1595	broad.mit.edu	37	7	91763582	91763582	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:91763582A>C	ENST00000003100.8	-	1	262	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V	LRRD1_ENST00000422722.1_Intron|CYP51A1_ENST00000450723.1_Intron	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	27					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	AGCATGGACAAGAGGTTGCCG	0.687000											OREG0018160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	39					0	0	0.003080	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250737	142250737	+	RNA	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:142250737G>C	ENST00000390360.3	-	0	330																											ACAGATGTCTGAGAGGGTACA	0.542000													28	124					0	0	0.013726	0	0
ZNF649	65251	broad.mit.edu	37	19	52393957	52393957	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:52393957G>A	ENST00000354957.3	-	5	1716	c.1432C>T	c.(1432-1434)Cat>Tat	p.H478Y	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.H450Y	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CCCTGCACATGTTCACTAGGA	0.463000													15	319					0	0	0.003163	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452365	234452365	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:234452365C>T	ENST00000366618.3	+	5	991	c.846C>T	c.(844-846)ctC>ctT	p.L282L	SLC35F3_ENST00000366617.3_Silent_p.L213L	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	213					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCGCCATCCTCGCCATCGCTG	0.577000													228	429					0	0	0.014410	0	0
ADAM7	8756	broad.mit.edu	37	8	24304729	24304729	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:24304729A>T	ENST00000175238.6	+	3	270	c.187A>T	c.(187-189)Ata>Tta	p.I63L	ADAM7_ENST00000380789.1_Missense_Mutation_p.I63L|ADAM7_ENST00000441335.2_Missense_Mutation_p.I63L|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	63					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTTGTATGAAATAAAACTAAA	0.343000													18	30					0	0	0.008871	0	0
PRSS21	10942	broad.mit.edu	37	16	2868796	2868796	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:2868796C>T	ENST00000455114.1	+	4	476	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	PRSS21_ENST00000005995.3_Silent_p.L126L|PRSS21_ENST00000450020.3_Silent_p.L126L	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	126	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GAATATCTATCTGAGCCCTCG	0.537000													26	116					0	0	0.005443	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886021	70886021	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:70886021G>A	ENST00000333538.5	+	5	1526	c.892G>A	c.(892-894)Gag>Aag	p.E298K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	298						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTACAGCTGGGAGCTGTGGTG	0.597000													52	83					0	0	0.014410	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655230	46655230	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:46655230C>G	ENST00000253255.5	-	1	3989	c.3990G>C	c.(3988-3990)caG>caC	p.Q1330H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1330	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAGCCATTTCTGGCATATGA	0.418000													51	83					0	0	0.014410	0	0
TRIO	7204	broad.mit.edu	37	5	14381300	14381300	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:14381300C>G	ENST00000344204.4	+	21	3533	c.3509C>G	c.(3508-3510)tCc>tGc	p.S1170C	TRIO_ENST00000537187.1_Missense_Mutation_p.S1170C|TRIO_ENST00000509967.2_Missense_Mutation_p.S1121C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1170					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCACGGGCTCCAGTATACAG	0.512000													70	130					0	0	0.014410	0	0
ATP13A2	23400	broad.mit.edu	37	1	17314949	17314949	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:17314949C>G	ENST00000452699.1	-	24	2804	c.2615G>C	c.(2614-2616)gGa>gCa	p.G872A	ATP13A2_ENST00000341676.5_Missense_Mutation_p.G833A|ATP13A2_ENST00000326735.8_Missense_Mutation_p.G877A|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	877					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCGCCGTCTCCGCACATGCC	0.617000													32	141					0	0	0.015359	0	0
COL21A1	81578	broad.mit.edu	37	6	56044893	56044893	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:56044893G>C	ENST00000244728.5	-	3	520	c.123C>G	c.(121-123)atC>atG	p.I41M	COL21A1_ENST00000370819.1_Missense_Mutation_p.I41M|COL21A1_ENST00000535941.1_Missense_Mutation_p.I41M	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	41	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGCCATCTAAGATGAAAACTA	0.348000													6	9					0	0	0.001984	0	0
WDFY3	23001	broad.mit.edu	37	4	85634326	85634326	+	Silent	SNP	C	C	A	rs150169644	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:85634326C>A	ENST00000322366.6	-	50	8384	c.7977G>T	c.(7975-7977)acG>acT	p.T2659T	WDFY3_ENST00000295888.4_Silent_p.T2676T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2676						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTCCACACTCGTGTTTGGTC	0.383000													59	158					1.85257e-25	2.62056e-25	0.014410	1	0
WDR72	256764	broad.mit.edu	37	15	54008834	54008834	+	Silent	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:54008834A>T	ENST00000396328.1	-	4	548	c.309T>A	c.(307-309)gcT>gcA	p.A103A	WDR72_ENST00000557913.1_Silent_p.A103A|WDR72_ENST00000360509.5_Silent_p.A103A|WDR72_ENST00000559418.1_Silent_p.A103A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	103										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGGAAGTGTAGCCTTCTCCA	0.428000													9	25					0	0	0.008291	0	0
FFAR3	2865	broad.mit.edu	37	19	35850555	35850555	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:35850555C>G	ENST00000327809.4	+	2	964	c.763C>G	c.(763-765)Ccg>Gcg	p.P255A	FFAR3_ENST00000594310.1_Missense_Mutation_p.P255A	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	255						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTGAAAGCCCGGCGTGGAG	0.592000													34	583					0	0	0.019004	0	0
ACP6	51205	broad.mit.edu	37	1	147126339	147126339	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:147126339G>T	ENST00000369238.6	-	6	1197	c.750C>A	c.(748-750)ttC>ttA	p.F250L	ACP6_ENST00000392988.2_Missense_Mutation_p.F250L	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic						lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CCAGGAGGATGAAGAAGTCCA	0.557000													7	128					8.12818e-05	0.000104702	0.001984	1	0
LPA	4018	broad.mit.edu	37	6	160999635	160999635	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:160999635C>T	ENST00000447678.1	-	28	4511	c.4391G>A	c.(4390-4392)cGa>cAa	p.R1464Q	LPA_ENST00000316300.5_Missense_Mutation_p.R1464Q	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACTGGACATCGTGTCAGGTT	0.527000													21	43					0	0	0.010504	0	0
DEFB128	245939	broad.mit.edu	37	20	168750	168750	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:168750C>T	ENST00000334391.4	-	2	116	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	20					defense response to bacterium	extracellular region		p.R20fs*4(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTTTTTGAGTCTTGCCCCGTC	0.423000													7	95					0	0	0.003080	0	0
SCN1A	6323	broad.mit.edu	37	2	166850897	166850897	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:166850897G>T	ENST00000423058.2	-	25	4628	c.4611C>A	c.(4609-4611)ttC>ttA	p.F1537L	SCN1A_ENST00000375405.3_Missense_Mutation_p.F1526L|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1537L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1509L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1537				F -> L (in Ref. 7; CAA46439/M91803).		voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTCTGGTTACGAAGTCAAAGA	0.353000													4	10					1.23904e-05	1.61094e-05	0.014758	1	0
PC	5091	broad.mit.edu	37	11	66619932	66619932	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:66619932G>C	ENST00000393960.1	-	15	2084	c.1803C>G	c.(1801-1803)ctC>ctG	p.L601L	PC_ENST00000393958.2_Silent_p.L601L|PC_ENST00000393955.2_Silent_p.L601L	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	601	Carboxyltransferase.				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)	CCATGCTGAAGAGCTTGCTGA	0.622000													7	139					0	0	0.001984	0	0
REG1A	5967	broad.mit.edu	37	2	79347991	79347991	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:79347991G>T	ENST00000233735.1	+	2	107	c.4G>T	c.(4-6)Gct>Tct	p.A2S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	2					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCTCAGCATGGCTCAGACCAG	0.473000													5	48					5.9392e-07	7.90632e-07	0.001168	1	0
SSH2	85464	broad.mit.edu	37	17	27998974	27998974	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27998974G>C	ENST00000269033.3	-	8	858	c.707C>G	c.(706-708)tCt>tGt	p.S236C	SSH2_ENST00000540801.1_Missense_Mutation_p.S263C|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	236					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGAGCTGGAGAGTCGGGCCG	0.448000													8	201					0	0	0.004990	0	0
TACR1	6869	broad.mit.edu	37	2	75425676	75425676	+	Missense_Mutation	SNP	C	C	G	rs77755890		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:75425676C>G	ENST00000305249.5	-	1	1150	c.385G>C	c.(385-387)Gat>Cat	p.D129H	TACR1_ENST00000409848.3_Missense_Mutation_p.D129H	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCTCACCTATCAAAGGCCACA	0.512000													7	103					0	0	0.001984	0	0
KIAA1551	55196	broad.mit.edu	37	12	32136973	32136973	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:32136973C>T	ENST00000312561.4	+	4	3498	c.3084C>T	c.(3082-3084)tcC>tcT	p.S1028S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		TAGATGCATCCAGCAACTATA	0.433000													4	47					0	0	0.009096	0	0
MDM2	4193	broad.mit.edu	37	12	69218172	69218172	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:69218172G>A	ENST00000462284.1	+	6	690	c.388G>A	c.(388-390)Gag>Aag	p.E130K	MDM2_ENST00000299252.4_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.E99K|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	124					cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATCTGTGAGTGAGAACAGGTG	0.423000			A		"""sarcoma, glioma, colorectal, other"""								8	170					0	0	0.006214	0	0
CASP5	838	broad.mit.edu	37	11	104877904	104877904	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:104877904C>T	ENST00000393141.2	-	3	409	c.378G>A	c.(376-378)ctG>ctA	p.L126L	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_Silent_p.L80L|CASP5_ENST00000526056.1_Silent_p.L126L|CASP5_ENST00000260315.3_Silent_p.L113L|CASP5_ENST00000444749.2_Silent_p.L55L	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	113	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTACCAAGATCAGGGCCTTGT	0.368000													12	26					0	0	0.013537	0	0
HELZ2	85441	broad.mit.edu	37	20	62196310	62196310	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:62196310C>G	ENST00000467148.1	-	8	3934	c.3865G>C	c.(3865-3867)Gag>Cag	p.E1289Q	HELZ2_ENST00000427522.2_Missense_Mutation_p.E720Q	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTGCTGGCCTCAGGCAGCACC	0.672000													9	51					0	0	0.004482	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270479	153270479	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:153270479delG	ENST00000290722.1	-	7	1031	c.979delC	c.(979-981)cagfs	p.Q327fs		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	327					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACAAAGCCTGCCCAGGGGAC	0.587													98	179	---	---	---	---					
PRRC2C	23215	broad.mit.edu	37	1	171484935	171484936	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:171484935_171484936insA	ENST00000367742.3	+	5	705_706	c.463_464insA	c.(463-465)gaafs	p.E155fs	PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.E153fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.E155fs|PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.E153fs|PRRC2C_ENST00000476522.1_3'UTR			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	153							protein C-terminus binding										TGGGGATCAGGAAAAAAAAGAA	0.356													7	247	---	---	---	---					
FAIM3	9214	broad.mit.edu	37	1	207087118	207087119	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:207087118_207087119insG	ENST00000367091.3	-	2	501_502	c.358_359insC	c.(358-360)ctgfs	p.L120fs	FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Frame_Shift_Ins_p.L120fs	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	120					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GTGGACATTCAGGGTGACTTTC	0.515													24	116	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	69011949	69011949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:69011949delT	ENST00000288368.4	+	23	2863	c.2586delT	c.(2584-2586)catfs	p.H862fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	862					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTGATGAGCATTTTGTACAAA	0.408													13	80	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													2	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49427023	49427033	+	Frame_Shift_Del	DEL	CCCTGGGGGCC	CCCTGGGGGCC	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:49427023_49427033delCCCTGGGGGCC	ENST00000301067.7	-	39	11454_11464	c.11455_11465delGGCCCCCAGGG	c.(11455-11466)ggcccccagggcfs	p.GPQG3819fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCTGTGAGGGCCCTGGGGGCCCAAAGCTCCA	0.678													4	8	---	---	---	---					
MYEF2	50804	broad.mit.edu	37	15	48444460	48444460	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:48444460delC	ENST00000324324.7	-	11	1388	c.1109delG	c.(1108-1110)ggtfs	p.G370fs	MYEF2_ENST00000267836.6_Frame_Shift_Del_p.G370fs	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	370	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCCTCCAAAACCTGGACCATC	0.289													9	33	---	---	---	---					
EPX	8288	broad.mit.edu	37	17	56277646	56277650	+	Frame_Shift_Del	DEL	ATGCC	ATGCC	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:56277646_56277650delATGCC	ENST00000225371.5	+	10	1708_1712	c.1598_1602delATGCC	c.(1597-1602)gatgccfs	p.DA533fs		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	533					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AACCGTCAGGATGCCATGTTAGTGG	0.634											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	221	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068550	74068550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:74068550delG	ENST00000307877.2	-	1	184	c.23delC	c.(22-24)ccafs	p.P8fs	SRP68_ENST00000539137.1_Frame_Shift_Del_p.P8fs|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	8					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						gccgccgccTGGGACCTGCTT	0.711													25	124	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11097726	11097726	+	RNA	DEL	G	G	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:11097726delG	ENST00000470054.1	-	0	223									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCAGTTTCAGCGAAGGCACT	0.587													8	16	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123189994	123189994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:123189994delC	ENST00000371160.1	+	14	1503	c.1213delC	c.(1213-1215)ctcfs	p.L405fs	STAG2_ENST00000371157.3_Frame_Shift_Del_p.L405fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.L405fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.L336fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.L405fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.L405fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	405					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAAGAAGTTCTCACTGCAGA	0.363													57	21	---	---	---	---