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
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:281566A>G	uc010qvs.2	+	3	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_uc010qvt.2_Missense_Mutation_p.E611G	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662000													5	198					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043726	7043726	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr4:7043726G>A	uc003gjv.2	-	0	1003	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	314										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TGGCACTGCCGCTTCAACTGG	0.617000													4	229					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27024043	27024043	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:27024043G>A	uc010crt.3	+	30	4344	c.4152G>A	c.(4150-4152)cgG>cgA	p.R1384R	SUPT6H_uc002hby.3_Silent_p.R1384R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1384	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGGATGTGCGGGAGGAGGGCA	0.572000													3	118					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52521333	52521333	+	Silent	SNP	G	G	C			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:52521333G>C	uc010bff.3	-	24	3366	c.3204C>G	c.(3202-3204)gtC>gtG	p.V1068V	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1068						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTCTACCTTGACCTGCTTGC	0.532000													80	162					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46322574	46322574	+	Missense_Mutation	SNP	T	T	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr12:46322574T>A	uc001rox.3	-	10	1197	c.910A>T	c.(910-912)Aca>Tca	p.T304S	SCAF11_uc001row.3_5'UTR|SCAF11_uc001roy.1_Missense_Mutation_p.T378S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	304					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTATTTGATGTACCAGAAGTT	0.378000													8	135					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67076991	67076991	+	Silent	SNP	G	G	A	rs149398055	by1000genomes	TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:67076991G>A	uc001okj.3	+	10	1363	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.T249T	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	395	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGAAGGAGACGCACCGCTTCA	0.637000													3	55					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35700753	35700753	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:35700753C>T	uc003jjo.3	+	15	2408	c.2297C>T	c.(2296-2298)gCg>gTg	p.A766V	SPEF2_uc003jjq.4_Missense_Mutation_p.A761V|SPEF2_uc003jjp.1_Missense_Mutation_p.A252V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	766					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGATCCTGCGACTTCCAAA	0.383000													3	68					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164511	34164511	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:34164511G>A	uc001bxm.1	-	23	3944	c.3767C>T	c.(3766-3768)aCc>aTc	p.T1256I	CSMD2_uc001bxn.1_Missense_Mutation_p.T1216I|CSMD2_uc001bxo.1_Missense_Mutation_p.T129I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1216	Sushi 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAACTTGGGGGTTCCTGGGTC	0.517000													3	74					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29474098	29474098	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr2:29474098G>A	uc002rmy.3	-	11	3029	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	693					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGGCCATGGGGCCCGCTGGCC	0.642000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	28					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:38591931C>G	uc021wvo.1	-	26	5984	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602000													3	68					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5699184	5699184	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr19:5699184G>A	uc002mcx.3	-	9	1572	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	LONP1_uc002mcy.3_Silent_p.S449S|LONP1_uc010duh.3_Silent_p.S254S|LONP1_uc010dui.3_Silent_p.S497S|LONP1_uc002mcz.3_Silent_p.S317S	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	513					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCTGGGTGGAGCCGCGGA	0.647000													3	115					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136646925	136646925	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:136646925A>G	uc003erh.3	+	1	212	c.82A>G	c.(82-84)Aga>Gga	p.R28G	NCK1_uc011bme.2_5'Flank	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	28	SH3 1.				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAAGAATGAGAGATTATGGCT	0.418000													36	52					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69327795	69327795	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:69327795C>G	uc002ars.2	+	5	998	c.957C>G	c.(955-957)taC>taG	p.Y319*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.Y273*|NOX5_uc002arp.2_Nonsense_Mutation_p.Y301*|NOX5_uc010bid.2_Nonsense_Mutation_p.Y284*|NOX5_uc010bie.2_Nonsense_Mutation_p.Y119*|NOX5_uc002arr.2_Nonsense_Mutation_p.Y291*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	319	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTATGGGCTACGTGGTAGTGG	0.607000													3	90					0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1944859	1944859	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:1944859G>A	uc010vqs.2	+	9	1222	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	DPH1_uc002fts.3_Missense_Mutation_p.V396M|DPH1_uc002ftt.3_Missense_Mutation_p.V380M|DPH1_uc010cjx.3_Missense_Mutation_p.V256M|DPH1_uc002ftv.3_Missense_Mutation_p.V152M|DPH1_uc002ftw.3_Missense_Mutation_p.V124M|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	396					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCCCTGGACGGTGAACCACGG	0.731000													3	57					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75445596	75445596	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr9:75445596C>T	uc004aiz.1	+	22	2798	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.A607V|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	753	Poly-Ala.				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTGCACGAGCAGGTTGGAGA	0.323000													8	20					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31327829	31327829	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:31327829G>A	uc021sia.1	-	19	2985	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	TRPM1_uc010azy.3_Missense_Mutation_p.R759W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R874W|TRPM1_uc001zfm.3_Missense_Mutation_p.R852W	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	852					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATCCATCCGCACCAGGATG	0.517000													4	116					0	0	1	0	0
IL13	3596	broad.mit.edu	37	5	131995905	131995905	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:131995905G>A	uc003kxj.1	+	3	386	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_002188	NP_002179	P35225	IL13_HUMAN	Homo sapiens interleukin 13 (IL13), mRNA.	124					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAAAATCGAGGTGGCCCAGT	0.478000													3	56					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27332479	27332479	+	Silent	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr10:27332479C>T	uc009xku.1	-	19	2209	c.2037G>A	c.(2035-2037)caG>caA	p.Q679Q	ANKRD26_uc001itg.2_Silent_p.Q365Q|ANKRD26_uc001ith.2_Silent_p.Q678Q	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	678						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATCCATAGACTGTATTTGGT	0.348000													13	22					0	0	1	0	0
