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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	158					0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	488240	488240	+	Silent	SNP	C	C	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr11:488240C>T	ENST00000308020.5	+	7	839	c.663C>T	c.(661-663)agC>agT	p.S221S		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	221						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TGATCATCAGCGTGATGTTCG	0.642000													15	24					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999650	55999650	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr11:55999650C>T	ENST00000313264.4	-	1	1087	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	338					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTCATTGAGTCTTTTACATCT	0.333000													19	23					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24842570	24842570	+	Missense_Mutation	SNP	C	C	T	rs144789611		TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr14:24842570C>T	ENST00000413692.2	+	5	1886	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V	NFATC4_ENST00000554966.1_Missense_Mutation_p.A531V|NFATC4_ENST00000554050.1_Missense_Mutation_p.A518V|NFATC4_ENST00000555590.1_Missense_Mutation_p.A531V|NFATC4_ENST00000553879.1_Missense_Mutation_p.A448V|NFATC4_ENST00000554344.1_Missense_Mutation_p.A448V|NFATC4_ENST00000422617.3_Missense_Mutation_p.A506V|NFATC4_ENST00000554473.1_Missense_Mutation_p.A53V|NFATC4_ENST00000554591.1_Missense_Mutation_p.A581V|NFATC4_ENST00000555167.1_Missense_Mutation_p.A53V|NFATC4_ENST00000424781.2_Missense_Mutation_p.A531V|NFATC4_ENST00000553708.1_Missense_Mutation_p.A518V|NFATC4_ENST00000539237.2_Missense_Mutation_p.A550V|NFATC4_ENST00000250373.4_Missense_Mutation_p.A518V|NFATC4_ENST00000557451.1_Missense_Mutation_p.A448V|NFATC4_ENST00000554661.1_Missense_Mutation_p.A448V|NFATC4_ENST00000556759.1_Missense_Mutation_p.A53V|NFATC4_ENST00000556279.1_Missense_Mutation_p.A550V|NFATC4_ENST00000556169.1_Missense_Mutation_p.A506V|NFATC4_ENST00000553469.1_Missense_Mutation_p.A550V|NFATC4_ENST00000555453.1_Missense_Mutation_p.A506V	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	518	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AACAACATGGCGGCCAAGTAA	0.547000													10	8					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095490	145095490	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr8:145095490C>T	ENST00000377470.3	+	3	890	c.788C>T	c.(787-789)cCc>cTc	p.P263L	SPATC1_ENST00000447830.2_Missense_Mutation_p.P263L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	263										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACTGAGCCCCCCCAGTCGACC	0.617000													25	151					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													3	12					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877893	130877893	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr2:130877893G>A	ENST00000357462.5	-	1	289	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	POTEF_ENST00000360967.5_Missense_Mutation_p.R66C|POTEF_ENST00000361163.4_Missense_Mutation_p.R66C|POTEF_ENST00000409914.2_Missense_Mutation_p.R66C			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	66						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCAGTGGCGGCACCACTTG	0.602000													4	233					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77873092	77873092	+	Silent	SNP	T	T	C			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr14:77873092T>C	ENST00000380835.2	-	4	823	c.657A>G	c.(655-657)caA>caG	p.Q219Q	NOXRED1_ENST00000298358.3_Silent_p.Q219Q	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	219					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						GACAGGTAGCTTGAAGAATCG	0.448000													18	22					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25005568	25005568	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr13:25005568A>C	ENST00000381989.3	-	32	4898	c.4793T>G	c.(4792-4794)cTt>cGt	p.L1598R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1598	Interaction with the major vault protein.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATTTGTATTAAGATTTAATAT	0.289000													33	11					0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138860911	138860911	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr5:138860911A>G	ENST00000330794.4	-	4	577	c.244T>C	c.(244-246)Tgg>Cgg	p.W82R	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	82					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAGTCCTCCAGTAGCTGCCC	0.662000													22	10					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659210	77659210	+	Silent	SNP	G	G	A			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr18:77659210G>A	ENST00000316249.3	+	2	795	c.795G>A	c.(793-795)tcG>tcA	p.S265S	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	265					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TCTACGTGTCGCTGCTGCTGG	0.697000													4	24					0	0	1	0	0
ORMDL2	29095	broad.mit.edu	37	12	56213133	56213133	+	Translation_Start_Site	SNP	A	A	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr12:56213133A>T	ENST00000550836.1	+	0	77				ORMDL2_ENST00000552672.1_Missense_Mutation_p.Y27F|ORMDL2_ENST00000548974.1_Missense_Mutation_p.Y61F|ORMDL2_ENST00000243045.5_Missense_Mutation_p.Y61F|RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron			Q53FV1	ORML2_HUMAN	ORM1-like 2 (S. cerevisiae)						ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						CAGGCTACGTATGTCTTCCTT	0.488000													4	187					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328357	48328357	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr11:48328357C>G	ENST00000319988.1	+	1	583	c.583C>G	c.(583-585)Ctc>Gtc	p.L195V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATGGTAGGTCTCATCGTGGT	0.448000													23	44					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557304	40557304	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr17:40557304G>T	ENST00000357037.5	-	2	993	c.574C>A	c.(574-576)Ccc>Acc	p.P192T		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	192					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCCTCCTCGGGCCGCTCGCCC	0.647000													62	97					8.3131e-28	1.00184e-27	1	1	0
CCDC158	339965	broad.mit.edu	37	4	77305423	77305423	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr4:77305423G>T	ENST00000388914.3	-	5	696	c.544C>A	c.(544-546)Cat>Aat	p.H182N	CCDC158_ENST00000434846.2_Missense_Mutation_p.H182N	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	182										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTCCCTCATGACTAAGCATC	0.408000													26	46					3.01185e-09	3.29202e-09	1	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647000													3	47					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593661	55593661	+	Missense_Mutation	SNP	T	T	C	rs121913513		TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr4:55593661T>C	ENST00000288135.5	+	11	1824	c.1727T>C	c.(1726-1728)cTt>cCt	p.L576P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	576					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.L576P(63)|p.Y570_L576del(9)|p.L576del(6)|p.V560_L576del(4)|p.N564_L576del(2)|p.I571_L576del(2)|p.I563_L576del(2)|p.Q556_L576del(2)|p.Q575_P577>T(2)|p.N564_Y578del(2)|p.V569_L576del(1)|p.N567_L576>E(1)|p.E561_P577del(1)|p.N564_P577del(1)|p.V559_L576del(1)|p.I571_N587del(1)|p.V569_L576>G(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAACACAACTTCCTTATGAT	0.408000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				491	24					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48458075	48458075	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chrX:48458075C>G	ENST00000218056.5	+	4	998	c.493C>G	c.(493-495)Cat>Gat	p.H165D	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	165						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GGGCATGTATCATGTTTTTGA	0.597000													21	34					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1198820	1198820	+	Silent	SNP	C	C	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr17:1198820C>T	ENST00000333813.3	+	2	762	c.423C>T	c.(421-423)ggC>ggT	p.G141G		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	141					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACGTGGACGGCGCCCGGAGGC	0.622000													70	81					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	79					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978230	247978230	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr1:247978230C>T	ENST00000357627.1	-	1	801	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ATTACAGCATCCAAAATAGAA	0.423000													9	57					0	0	1	0	0
RDH5	5959	broad.mit.edu	37	12	56118106	56118106	+	Splice_Site	SNP	A	A	G			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr12:56118106A>G	ENST00000257895.5	+	5	886	c.733_splice	c.e5-1	p.Y245_splice	RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Splice_Site_p.Y245_splice|RDH5_ENST00000547072.1_Splice_Site_p.Y148_splice	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	245					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	GGGGCTGCAGACCTGAAAATG	0.577000											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	15					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233135047	233135047	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr1:233135047G>A	ENST00000258229.8	-	31	5641	c.5407C>T	c.(5407-5409)Cgc>Tgc	p.R1803C	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R455C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1803						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATACTGCCGCGCTCCGGATTG	0.557000													3	18					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226378288	226378288	+	Silent	SNP	C	C	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr2:226378288C>T	ENST00000272907.6	+	3	836	c.423C>T	c.(421-423)ccC>ccT	p.P141P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	141																	AACCACCACCCAAACCCAAGA	0.577000													15	4					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55968150	55968150	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr4:55968150A>C	ENST00000263923.4	-	15	2475	c.2180T>G	c.(2179-2181)gTg>gGg	p.V727G		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	727	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCTTCCTCACTCTGCGGAT	0.453000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			38	36					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48822059	48822059	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr17:48822059A>C	ENST00000505658.1	+	7	767	c.578A>C	c.(577-579)gAa>gCa	p.E193A	LUC7L3_ENST00000240304.1_Missense_Mutation_p.E193A|LUC7L3_ENST00000393227.2_Missense_Mutation_p.E193A|LUC7L3_ENST00000544170.1_Missense_Mutation_p.E117A			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	193					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GAAGTTTGTGAAGTATGTGGA	0.373000													18	25					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170244647	170244647	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr3:170244647G>T	ENST00000231706.4	-	2	394	c.79C>A	c.(79-81)Cta>Ata	p.L27I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	27						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTGGTGCGTAGGATCCTGGAG	0.587000													6	9					0.00116845	0.00122038	1	1	0
DPYD	1806	broad.mit.edu	37	1	97771765	97771765	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr1:97771765T>G	ENST00000370192.3	-	17	2247	c.2147A>C	c.(2146-2148)gAt>gCt	p.D716A	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	716					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCTCACAATATCAGTGACATT	0.458000													5	194					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131827	142131827	+	RNA	SNP	A	A	G			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr7:142131827A>G	ENST00000390375.2	-	0	90																											CCCAGGACTCACCTGCTCCCA	0.612000													15	57					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41548083	41548083	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr8:41548083G>T	ENST00000396942.1	-	32	3976	c.3893C>A	c.(3892-3894)tCt>tAt	p.S1298Y	ANK1_ENST00000265709.8_Missense_Mutation_p.S1339Y|ANK1_ENST00000379758.2_Missense_Mutation_p.S1298Y|ANK1_ENST00000396945.1_Missense_Mutation_p.S1298Y|ANK1_ENST00000289734.7_Missense_Mutation_p.S1298Y|ANK1_ENST00000347528.4_Missense_Mutation_p.S1298Y|ANK1_ENST00000352337.4_Missense_Mutation_p.S1298Y			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1298					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGGTTCCCAGAGAGTTCTGC	0.562000													21	64					6.21321e-17	7.12246e-17	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25427798	25427798	+	RNA	SNP	C	C	A			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr15:25427798C>A	ENST00000424208.1	+	0	272					NR_003305.1																						CTCCAGTTCCCTGGGTTTGAG	0.592000													4	1					0.00909568	0.00929341	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													5	76					0	0	1	0	0
FBXO33	254170	broad.mit.edu	37	14	39870734	39870734	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr14:39870734G>T	ENST00000298097.7	-	3	1379	c.1042C>A	c.(1042-1044)Cac>Aac	p.H348N	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	348										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		AGAGACTTGTGCATTACAGAA	0.428000													23	47					1.55469e-16	1.73978e-16	1	1	0
KIAA0141	9812	broad.mit.edu	37	5	141316848	141316848	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr5:141316848A>G	ENST00000432126.2	+	11	1369	c.1235A>G	c.(1234-1236)tAc>tGc	p.Y412C	KIAA0141_ENST00000194118.4_Missense_Mutation_p.Y412C	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	412					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAGATGTTACCAGCAGTCA	0.557000													84	65					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373411	86373411	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr12:86373411C>G	ENST00000604798.1	-	8	2297	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H	MGAT4C_ENST00000548651.1_Missense_Mutation_p.D365H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D365H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D365H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D394H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D365H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	365					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAGTACTCATCAACACTACTG	0.353000													9	14					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39797463	39797463	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr1:39797463G>T	ENST00000564288.1	+	37	5980	c.5203G>T	c.(5203-5205)Ggg>Tgg	p.G1735W	MACF1_ENST00000567887.1_Missense_Mutation_p.G1772W|MACF1_ENST00000372915.3_Missense_Mutation_p.G1740W|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G175W|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1740					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAATTGGCAGGGGGGATGGT	0.493000													16	29					1.3612e-06	1.45401e-06	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152694294	152694294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr6:152694294C>A	ENST00000367255.5	-	59	9986	c.9385G>T	c.(9385-9387)Gaa>Taa	p.E3129*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E3136*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E3168*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E3129*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E3136*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3129					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCAGAAGTTCCCCTTTAGAC	0.363000										HNSCC(10;0.0054)			56	11					1.86277e-20	2.18875e-20	1	1	0
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													11	387	---	---	---	---					
ADD3	120	broad.mit.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr10:111893350delA	ENST00000277900.8	+	14	2364	c.1999delA	c.(1999-2001)aafs	p.K669fs	ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333													8	364	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													5	7	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614													5	10	---	---	---	---					
TBC1D17	79735	broad.mit.edu	37	19	50391745	50391745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chr19:50391745delC	ENST00000221543.5	+	17	2110	c.1811delC	c.(1810-1812)tgfs	p.S604fs	TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.S571fs	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	604	Pro-rich.					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)		CACAGCCCCTCGCCCACCGCC	0.736													2	4	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-D3-A51K-06A-11D-A25O-08	TCGA-D3-A51K-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B76091B-1C54-4BF8-8943-3D68FE5C7251	CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													3	4	---	---	---	---					
