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
GPR155	151556	broad.mit.edu	37	2	175335263	175335263	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:175335263C>T	ENST00000392552.2	-	4	1119	c.881G>A	c.(880-882)tGc>tAc	p.C294Y	GPR155_ENST00000392551.2_Missense_Mutation_p.C294Y|GPR155_ENST00000295500.4_Missense_Mutation_p.C294Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	294					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CATTTCTCTGCACAGAAGTGG	0.433000													3	40					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228149037	228149037	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:228149037G>C	ENST00000396578.3	+	34	3019	c.2857G>C	c.(2857-2859)Gac>Cac	p.D953H	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)	953	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)		CGTAATAGGGGACAAAGGAGA	0.468000													4	16					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415688	86415688	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr7:86415688G>A	ENST00000361669.2	+	3	1679	c.580G>A	c.(580-582)Gac>Aac	p.D194N	GRM3_ENST00000536043.1_Missense_Mutation_p.D66N|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D192N|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.D194N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	194					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGTGCCCCCCGACTTCTACCA	0.567000													33	87					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131658	66131658	+	RNA	SNP	C	C	A	rs7210736	by1000genomes	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:66131658C>A	ENST00000590019.1	-	0	298																											AAGTCATCATCCAGCTTGGTC	0.587000													4	79					0.150653	0.150653	1	1	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	45					0	0	1	0	0
FXYD3	5349	broad.mit.edu	37	19	35613736	35613736	+	Silent	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:35613736C>T	ENST00000435734.2	+	7	424	c.165C>T	c.(163-165)atC>atT	p.I55I	FXYD3_ENST00000604404.1_Silent_p.I55I|FXYD3_ENST00000346446.5_Silent_p.I55I|FXYD3_ENST00000605677.1_Silent_p.I55I|FXYD3_ENST00000603524.1_Silent_p.I84I|FXYD3_ENST00000406988.1_Silent_p.I55I|FXYD3_ENST00000603181.1_Silent_p.I55I|FXYD3_ENST00000604804.1_Silent_p.I84I|FXYD3_ENST00000406242.3_Silent_p.I55I|FXYD3_ENST00000604255.1_Silent_p.I112I|FXYD3_ENST00000535103.1_Silent_p.I112I|FXYD3_ENST00000605550.1_Silent_p.I55I|FXYD3_ENST00000604621.1_Silent_p.I55I|FXYD3_ENST00000344013.6_Silent_p.I55I	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	55						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCATCATCATCGTCATGAGTG	0.637000													5	121					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8829602	8829602	+	Silent	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr16:8829602C>T	ENST00000396600.2	+	2	944	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ABAT_ENST00000569156.1_Silent_p.A2A|ABAT_ENST00000425191.2_Silent_p.A2A|ABAT_ENST00000567812.1_Silent_p.A17A|ABAT_ENST00000268251.8_Silent_p.A2A	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	2					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGGTCATGGCCTCCATGTTGC	0.592000													3	12					0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7709617	7709617	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:7709617C>T	ENST00000441779.2	+	14	1295	c.1258C>T	c.(1258-1260)Ctc>Ttc	p.L420F	STXBP2_ENST00000414284.2_Missense_Mutation_p.L406F|STXBP2_ENST00000221283.5_Missense_Mutation_p.L409F	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	409					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCCTGCTGCTCTACATCCT	0.622000													11	46					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45452136	45452136	+	Silent	SNP	A	A	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:45452136A>G	ENST00000331493.2	+	12	1587	c.1176A>G	c.(1174-1176)aaA>aaG	p.K392K	EFCAB13_ENST00000517484.1_Silent_p.K296K	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TAAACTTTAAAAAACATTCAG	0.363000													10	19					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64196279	64196279	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chrX:64196279G>A	ENST00000374839.3	-	0	85				ZC4H2_ENST00000545618.1_De_novo_Start_InFrame|ZC4H2_ENST00000337990.2_Intron|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_De_novo_Start_OutOfFrame	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing								metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAATTTCACGTCCCGAGAGA	0.498000													15	111					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232575	71232575	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr4:71232575A>T	ENST00000226460.4	+	3	365	c.269A>T	c.(268-270)cAa>cTa	p.Q90L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	90	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGGAGAATTCAATCACACTCT	0.537000													42	89					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890409	51890409	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr6:51890409G>A	ENST00000371117.3	-	32	4474	c.4199C>T	c.(4198-4200)tCg>tTg	p.S1400L	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1400L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1400	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S1400L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCACATGCCGAACCCTGCGA	0.498000													29	92					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67021746	67021746	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:67021746C>T	ENST00000529006.2	+	20	3610	c.3164C>T	c.(3163-3165)aCg>aTg	p.T1055M	KDM2A_ENST00000530342.1_Missense_Mutation_p.T616M|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.T513M|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACAGATGCCACGCTTCGCCTC	0.557000													23	53					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23944385	23944385	+	Silent	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr14:23944385C>T	ENST00000397154.3	+	4	163	c.150C>T	c.(148-150)ctC>ctT	p.L50L	NGDN_ENST00000408901.3_Silent_p.L50L			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	50	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTCAGGGTCTCAGCTTCTTGG	0.443000													36	34					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890275	55890275	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:55890275G>A	ENST00000313472.3	+	1	427	c.427G>A	c.(427-429)Gct>Act	p.A143T		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A143T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCTCTGCCTCGCTCTCATCAC	0.443000													40	126					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8501020	8501020	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr9:8501020G>T	ENST00000381196.4	-	21	2405	c.1862C>A	c.(1861-1863)cCa>cAa	p.P621Q	PTPRD_ENST00000540109.1_Missense_Mutation_p.P621Q|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.P608Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.P608Q|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.P621Q|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	621	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTGGAACTTGGGCTGGTGCA	0.433000										TSP Lung(15;0.13)			17	52					1.99824e-07	2.11242e-07	1	1	0
OR1C1	26188	broad.mit.edu	37	1	247921375	247921375	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr1:247921375T>C	ENST00000408896.2	-	1	607	c.334A>G	c.(334-336)Agc>Ggc	p.S112G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAAGGAGGCTGTCCATATTC	0.478000													21	41					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186006592	186006592	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr3:186006592A>G	ENST00000265022.3	-	6	990	c.451T>C	c.(451-453)Tct>Cct	p.S151P	DGKG_ENST00000382164.4_Missense_Mutation_p.S151P|DGKG_ENST00000544847.1_Missense_Mutation_p.S151P|DGKG_ENST00000344484.4_Missense_Mutation_p.S151P	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	151	Poly-Ser.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GAGCTTGAAGACCGAGGGACG	0.547000													55	349					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	31					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770528	119770528	+	Silent	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr9:119770528G>A	ENST00000313400.4	-	7	1534	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ASTN2_ENST00000373996.3_Silent_p.F478F|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.F427F			O75129	ASTN2_HUMAN	astrotactin 2	478						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACTCACCACGAAGCTGCTTC	0.502000													18	47					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39735521	39735521	+	Silent	SNP	C	C	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:39735521C>G	ENST00000413851.2	-	1	125	c.87G>C	c.(85-87)ggG>ggC	p.G29G		NM_172139.2	NP_742151.2			interferon, lambda 3																		CCGGGAGAGCCCCGCGGAGCC	0.612000													16	56					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016050	4016050	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr16:4016050C>T	ENST00000294016.3	-	11	4326	c.3788G>A	c.(3787-3789)cGc>cAc	p.R1263H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1263				QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).	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	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CACCTGGACGCGGATGTCTGG	0.562000													15	51					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36527664	36527664	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr3:36527664C>T	ENST00000273183.3	+	5	910	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R143C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	204					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CGAGACCCTCCGCTTCGGCAC	0.557000													52	158					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									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)		AAATGCACATCGCTGAAAGGG	0.383000													5	121					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61183827	61183827	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:61183827G>A	ENST00000340437.4	-	6	924	c.844C>T	c.(844-846)Cca>Tca	p.P282S	CPSF7_ENST00000439958.3_Missense_Mutation_p.P230S|CPSF7_ENST00000394888.4_Missense_Mutation_p.P239S|CPSF7_ENST00000448745.1_Missense_Mutation_p.P230S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	239	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ATTGGTGGTGGGGGCAGACCC	0.602000													31	72					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75436120	75436120	+	Silent	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr12:75436120C>T	ENST00000298972.1	-	5	2358	c.1815G>A	c.(1813-1815)acG>acA	p.T605T	KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000549446.1_3'UTR|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000548513.1_Silent_p.T605T|KCNC2_ENST00000350228.2_Silent_p.T550T	NM_139136.3	NP_631874.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCTCGGCTTGCGTGTAACCAG	0.418000													12	26					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260787	42260787	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:42260787A>G	ENST00000199764.6	+	2	562	c.344A>G	c.(343-345)aAt>aGt	p.N115S	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	115	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GTCACCCAGAATGACACAGGA	0.463000													19	315					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25701870	25701870	+	Missense_Mutation	SNP	C	C	T	rs147526117	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr1:25701870C>T	ENST00000349320.3	-	10	1463	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	RHCE_ENST00000425135.1_Missense_Mutation_p.R284H|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.V359M|RHCE_ENST00000349438.4_Missense_Mutation_p.R330H|RHCE_ENST00000346452.4_Missense_Mutation_p.V224M|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Missense_Mutation_p.V375M|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000455194.1_Missense_Mutation_p.V270M			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	375						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGCTATCACGATGGCCAAG	0.577000													26	175					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170936339	170936339	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:170936339G>A	ENST00000272793.5	+	37	5265	c.5215G>A	c.(5215-5217)Gag>Aag	p.E1739K	UBR3_ENST00000392631.1_Missense_Mutation_p.E560K|UBR3_ENST00000418381.1_Missense_Mutation_p.E1739K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1739					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GCTTATCCAAGAGTCAAAATG	0.308000													4	43					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129190058	129190058	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chrX:129190058G>A	ENST00000540052.1	+	12	5127	c.5083G>A	c.(5083-5085)Gac>Aac	p.D1695N	BCORL1_ENST00000303743.5_Missense_Mutation_p.D1769N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1565N|BCORL1_ENST00000218147.7_Missense_Mutation_p.D1695N	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1695					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTACGAGCCAGACCTACTTCG	0.607000													8	57					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511440	24511440	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr5:24511440T>C	ENST00000264463.4	-	6	1505	c.998A>G	c.(997-999)aAa>aGa	p.K333R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	333	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGCACCTTTTTCACAGTGAT	0.393000										HNSCC(23;0.051)			7	82					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65300090	65300090	+	Silent	SNP	A	A	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:65300090A>G	ENST00000377990.2	+	3	2063	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	CEP68_ENST00000537589.1_Silent_p.K232K|CEP68_ENST00000546106.1_Silent_p.K620K|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	620					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AACAGGGAAAAGAATCACTGG	0.488000													33	56					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131561	66131561	+	RNA	SNP	G	G	A	rs7225912	by1000genomes	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:66131561G>A	ENST00000590019.1	-	0	298																											AGCCTGCGAGGCTGGGTTGGG	0.602000													3	24					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768852	127768852	+	Silent	SNP	T	T	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr6:127768852T>C	ENST00000483725.3	-	5	948	c.612A>G	c.(610-612)ccA>ccG	p.P204P	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	204							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TAGTTACATTTGGCATTTCCT	0.338000													4	30					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183549836	183549836	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr4:183549836C>A	ENST00000511685.1	+	5	905	c.782C>A	c.(781-783)aCg>aAg	p.T261K	TENM3_ENST00000406950.2_Missense_Mutation_p.T261K					teneurin transmembrane protein 3																		ACAGGTACAACGCCACTGTTC	0.423000													3	6					0.00024832	0.000258812	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17432096	17432096	+	Silent	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:17432096G>A	ENST00000302539.4	-	22	2789	c.2664C>T	c.(2662-2664)acC>acT	p.T888T	ABCC8_ENST00000389817.3_Silent_p.T887T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	887	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GTAGCTTGTGGGTCACTAAGA	0.592000													5	100					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18098327	18098327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:18098327C>T	ENST00000399138.4	+	2	834	c.829C>T	c.(829-831)Cga>Tga	p.R277*	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	277						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CAAGGAGCGCCGAGCAGTCAT	0.502000													8	27					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4525830	4525830	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:4525830C>T	ENST00000381848.3	-	6	615	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	179						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTTCAGCCTCAGCCGCCAGT	0.657000													3	25					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63281299	63281299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:63281299C>T	ENST00000282549.2	+	4	491	c.215C>T	c.(214-216)gCg>gTg	p.A72V	OTX1_ENST00000366671.3_Missense_Mutation_p.A72V	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	72						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GAGGAGGTGGCGCTCAAGATC	0.647000													22	59					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426662	10426662	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:10426662C>T	ENST00000245503.5	-	38	5924	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1847H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1847					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCATGTTTGCGCAGACCTTT	0.463000													24	97					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113388755	113388755	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr12:113388755C>G	ENST00000228928.7	+	7	1811	c.1632C>G	c.(1630-1632)agC>agG	p.S544R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	544	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CGGATGTTAGCCTGCTGCCTG	0.617000													4	52					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109379847	109379847	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:109379847C>T	ENST00000283195.6	+	20	2978	c.2852C>T	c.(2851-2853)aCg>aTg	p.T951M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	951					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.T951M(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTCCTGCAACGGGAATTCTA	0.463000													19	46					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													3	33					0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7709629	7709629	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:7709629C>T	ENST00000441779.2	+	14	1307	c.1270C>T	c.(1270-1272)Ctt>Ttt	p.L424F	STXBP2_ENST00000414284.2_Missense_Mutation_p.L410F|STXBP2_ENST00000221283.5_Missense_Mutation_p.L413F	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	413					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTACATCCTCCTTCGGAATGG	0.617000													10	45					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54031235	54031235	+	Silent	SNP	C	C	T	rs145035655	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr10:54031235C>T	ENST00000373980.4	+	11	1716	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	PRKG1_ENST00000373985.1_Silent_p.S406S|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Silent_p.S418S|PRKG1_ENST00000373975.2_Silent_p.S136S|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	418	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GGGCTCATTCCGATTTCATAG	0.488000													17	28					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52993152	52993152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:52993152C>T	ENST00000575882.1	+	7	1002	c.649C>T	c.(649-651)Cga>Tga	p.R217*	TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.R210*|TOM1L1_ENST00000540336.1_Nonsense_Mutation_p.R105*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.R140*|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.R182*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.R140*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	217	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						AATGAATGTGCGAGTGATGTC	0.433000													5	117					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348695	140348695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr5:140348695C>T	ENST00000289269.5	+	1	2876	c.2344C>T	c.(2344-2346)Cga>Tga	p.R782*	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		782					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)			CATTGAAGTTCGAGGGAATGG	0.507000													9	49					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20573147	20573147	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr18:20573147G>C	ENST00000399722.2	+	11	1708	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	RBBP8_ENST00000399725.2_Missense_Mutation_p.E453Q|RBBP8_ENST00000360790.5_Missense_Mutation_p.E453Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E453Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	453					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AACTGAGGAAGAAAGTGAACA	0.403000								Homologous recombination					12	24					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202715271	202715271	+	Splice_Site	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr1:202715271G>A	ENST00000367265.3	-	15	3361	c.2198_splice	c.e15+1	p.R733_splice	KDM5B_ENST00000367264.2_Splice_Site_p.R769_splice	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	733					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTACTTACCGCAATTTATAT	0.378000													13	48					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	52					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142450415	142450415	+	RNA	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr8:142450415C>T	ENST00000430863.1	-	0	3213					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TGTGCCAGCACGGTCAAGGCA	0.607000													4	5					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13751205	13751205	+	Silent	SNP	G	G	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr5:13751205G>T	ENST00000265104.4	-	65	11297	c.11193C>A	c.(11191-11193)gtC>gtA	p.V3731V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3731	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTGAGAATGACCCTCCCCA	0.443000									Kartagener syndrome				12	30					2.68362e-12	2.87808e-12	1	1	0
RB1	5925	broad.mit.edu	37	13	48941648	48941648	+	Nonsense_Mutation	SNP	C	C	T	rs121913300		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr13:48941648C>T	ENST00000267163.4	+	10	1096	c.958C>T	c.(958-960)Cga>Tga	p.R320*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	320					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R320*(11)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTCTAAACGATACGAAGA	0.313000	R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)|R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			6	21					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156678	26156680	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr6:26156678_26156680delGAA	ENST00000304218.3	+	1	120_122	c.60_62delGAA	c.(58-63)gtg>gt	p.VK20del		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	20					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGACTCCCGTGAAGAAGAAGGCC	0.650													14	131	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423													2	4	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													7	9	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89653856	89653857	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr10:89653856_89653857insA	ENST00000371953.3	+	2	1511_1512	c.154_155insA	c.(154-156)tgtfs	p.C52fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	52	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.D52del(2)|p.D52N(1)|p.D52G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAATATTGATGATGTAGTAAGG	0.297		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			8	7	---	---	---	---					
PLA2G4F	255189	broad.mit.edu	37	15	42442617	42442619	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr15:42442617_42442619delGAG	ENST00000397272.3	-	9	928_930	c.837_839delCTC	c.(835-840)tct>tc	p.SS279del	PLA2G4F_ENST00000382396.4_In_Frame_Del_p.SS279del	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	279					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TAGGGGCAGAGAGGAGAGCAGGA	0.626													9	20	---	---	---	---					
KRT15	3866	broad.mit.edu	37	17	39672397	39672399	+	In_Frame_Del	DEL	CCG	CCG	-	rs145001788		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:39672397_39672399delCCG	ENST00000254043.3	-	4	4442_4444	c.857_859delCGG	c.(856-861)gag>g	p.AE286del	KRT15_ENST00000393981.3_In_Frame_Del_p.AE121del|KRT15_ENST00000393976.2_In_Frame_Del_p.AE286del|KRT15_ENST00000393974.3_In_Frame_Del_p.AE121del	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	286	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGGTTCTTCTCCGCCATGGCCTC	0.645													81	189	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58064624	58064624	+	RNA	DEL	T	T	-			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:58064624delT	ENST00000586209.1	+	0	158																											ttTTTTGGTGTTTTTtttttt	0.353													4	2	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36223134	36223135	+	In_Frame_Ins	INS	-	-	CCA			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:36223134_36223135insCCA	ENST00000420124.1	+	28	5684_5685	c.5684_5685insCCA	c.(5683-5685)aca>aCCAca	p.1895_1895T>TT	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_In_Frame_Ins_p.1895_1895T>TT																							TCTTCACTGACCCACCACATCC	0.673													5	10	---	---	---	---