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
TENC1	23371	broad.mit.edu	37	12	53454578	53454578	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr12:53454578G>T	ENST00000314250.6	+	20	3178	c.2888G>T	c.(2887-2889)gGa>gTa	p.G963V	TENC1_ENST00000546602.1_Missense_Mutation_p.G866V|TENC1_ENST00000552570.1_Missense_Mutation_p.G963V|TENC1_ENST00000379902.3_Missense_Mutation_p.G839V|TENC1_ENST00000451358.1_Missense_Mutation_p.G953V|TENC1_ENST00000549700.1_Missense_Mutation_p.G898V|TENC1_ENST00000314276.3_Missense_Mutation_p.G973V	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	963	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGCCGTCGGGAAGTGGGCCT	0.677000													4	16					0.150653	0.150653	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89448933	89448933	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:89448933G>C	ENST00000399794.2	-	3	1292	c.577C>G	c.(577-579)Cca>Gca	p.P193A	RBMXL1_ENST00000321792.5_Missense_Mutation_p.P193A|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	193							nucleotide binding|RNA binding										CTTCGAGGTGGACCTCCATAA	0.488000													4	131					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27374684	27374684	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr16:27374684C>T	ENST00000395762.2	+	11	2270	c.2011C>T	c.(2011-2013)Cca>Tca	p.P671S	IL4R_ENST00000380922.3_Missense_Mutation_p.P656S|IL4R_ENST00000543915.2_Missense_Mutation_p.P671S|IL4R_ENST00000170630.2_Missense_Mutation_p.P671S	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	671					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCACATCTCCCAAGCAGCTC	0.642000													9	47					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183906908	183906908	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr3:183906908C>G	ENST00000429586.2	+	10	1195	c.1010C>G	c.(1009-1011)gCc>gGc	p.A337G	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.A331G	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	337	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGAGGCTGGCCCTGGCCCGG	0.562000													8	20					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039691	2039691	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr9:2039691G>T	ENST00000382203.1	+	4	790	c.581G>T	c.(580-582)cGa>cTa	p.R194L	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R194L|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R194L|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R194L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	194					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATGCTGGCCCGAGGCCAGCCC	0.587000													5	29					0.000602214	0.000662772	1	1	0
SH2D4B	387694	broad.mit.edu	37	10	82329944	82329944	+	Silent	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr10:82329944G>T	ENST00000339284.2	+	2	649	c.219G>T	c.(217-219)ggG>ggT	p.G73G	SH2D4B_ENST00000470604.2_Silent_p.G72G|SH2D4B_ENST00000313455.4_Silent_p.G24G	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	72										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGCTCCTAGGGGCAGATGGCG	0.517000													24	102					4.47668e-21	6.7321e-21	1	1	0
PLSCR5	389158	broad.mit.edu	37	3	146309535	146309535	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr3:146309535C>T	ENST00000443512.1	-	5	1590	c.587G>A	c.(586-588)tGt>tAt	p.C196Y	PLSCR5_ENST00000492200.1_Missense_Mutation_p.C196Y|PLSCR5_ENST00000482567.1_Missense_Mutation_p.C184Y	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	196										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AAAACAGCCACATGTCACACA	0.348000													4	23					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14101549	14101549	+	RNA	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:14101549C>A	ENST00000310358.7	+	0	1193							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.H219N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CGAGAAGACACACCCAAAGGA	0.488000													10	52					4.68919e-08	5.80988e-08	1	1	0
CHRM3	1131	broad.mit.edu	37	1	240071045	240071045	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:240071045G>T	ENST00000255380.4	+	5	1073	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	98					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCAACAAGCAGCTGAAGACGG	0.468000													17	36					2.4624e-09	3.17054e-09	1	1	0
PPP2R2C	5522	broad.mit.edu	37	4	6383531	6383531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr4:6383531C>A	ENST00000335585.5	-	1	66	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000515571.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000382599.4_Intron	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	0					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CAGGGCTGGCCTTCCTGGATG	0.537000													12	76					0.0135373	0.0138898	1	1	0
CLVS1	157807	broad.mit.edu	37	8	62289263	62289263	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr8:62289263C>A	ENST00000519846.1	+	4	1027	c.555C>A	c.(553-555)gaC>gaA	p.D185E	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.D185E			Q8IUQ0	CLVS1_HUMAN	clavesin 1	185	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAATTATAGACTGGAGTAATT	0.423000													19	58					0.000958276	0.00104878	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13216825	13216825	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr9:13216825C>A	ENST00000319217.7	-	10	1485	c.1238G>T	c.(1237-1239)aGc>aTc	p.S413I	MPDZ_ENST00000381015.4_Missense_Mutation_p.S413I|MPDZ_ENST00000381022.2_Missense_Mutation_p.S413I|MPDZ_ENST00000541718.1_Missense_Mutation_p.S413I|MPDZ_ENST00000546205.1_Missense_Mutation_p.S413I|MPDZ_ENST00000447879.1_Missense_Mutation_p.S413I|MPDZ_ENST00000536827.1_Missense_Mutation_p.S413I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	413	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AACGGCACTGCTTTTTGTAAT	0.318000													7	26					3.09899e-07	3.7e-07	1	1	0
RNLS	55328	broad.mit.edu	37	10	90342049	90342049	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr10:90342049G>C	ENST00000371947.3	-	2	1473	c.134C>G	c.(133-135)aCa>aGa	p.T45R	RNLS_ENST00000331772.4_Missense_Mutation_p.T45R|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Intron	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	45						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						ACTGCAGGCTGTAGTCATTCT	0.443000													7	28					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26520352	26520352	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:26520352G>T	ENST00000456354.2	+	3	499	c.432G>T	c.(430-432)tgG>tgT	p.W144C		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	144					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTTGGCTGGCTCAATGGCT	0.507000													14	95					1.3612e-06	1.60573e-06	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	92					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27293105	27293105	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:27293105C>A	ENST00000360131.4	+	15	2794	c.2635C>A	c.(2635-2637)Cca>Aca	p.P879T		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	879					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATCTCCCCCACTGACTGT	0.498000													23	73					9.57634e-11	1.26613e-10	1	1	0
TTLL7	79739	broad.mit.edu	37	1	84415555	84415555	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:84415555T>A	ENST00000260505.8	-	4	649	c.272A>T	c.(271-273)aAt>aTt	p.N91I	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	91	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TACCTGATAATTTTGCAGCTC	0.338000													6	45					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242189	87242189	+	Silent	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr8:87242189C>A	ENST00000297524.3	-	1	421	c.318G>T	c.(316-318)ggG>ggT	p.G106G	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.G106G	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	106						integral to membrane	amino acid transmembrane transporter activity	p.G106G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CAGCAACTACCCCTGACCCCA	0.493000													4	29					0.00116845	0.00125783	1	1	0
SHOX	6473	broad.mit.edu	37	X	591804	591804	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chrX:591804G>C	ENST00000381578.1	+	2	863	c.172G>C	c.(172-174)Gac>Cac	p.D58H	SHOX_ENST00000334060.3_Missense_Mutation_p.D58H|SHOX_ENST00000554971.1_Missense_Mutation_p.D58H|SHOX_ENST00000381575.1_Missense_Mutation_p.D58H	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	58					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGCCTCCAGGACATCACGGA	0.602000													20	83					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640261	32640261	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:32640261C>G	ENST00000421745.2	+	10	2036	c.1902C>G	c.(1900-1902)agC>agG	p.S634R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	634					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTCTTTATAGCATCAAGGAAT	0.363000													7	17					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763464	56763464	+	Silent	SNP	G	G	A	rs139388844	byFrequency	TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:56763464G>A	ENST00000267460.4	+	6	1129	c.843G>A	c.(841-843)cgG>cgA	p.R281R		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	281					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ACGCCGCCCGGCCTCAGTGTC	0.582000													13	33					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614887	36614887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:36614887G>A	ENST00000311485.3	-	2	993	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	278					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTTCAAGCTGATAGCCACCA	0.423000									Familial Hemophagocytic Lymphohistiocytosis				6	75					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124353097	124353097	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr10:124353097G>A	ENST00000368909.3	+	21	2619	c.2513G>A	c.(2512-2514)cGg>cAg	p.R838Q	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.R838Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R828Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R828Q|DMBT1_ENST00000368956.2_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	838					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCCAGTCCCGGCCGACACCC	0.522000													53	347					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716397	18716397	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr12:18716397A>C	ENST00000433979.1	+	27	3860	c.3744A>C	c.(3742-3744)caA>caC	p.Q1248H	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Q1248H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q1289H	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1248	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTCACAGCCAACTTCAGAAGC	0.403000													4	79					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712645	70712645	+	RNA	SNP	A	A	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:70712645A>T	ENST00000530196.1	-	0	1873					NR_003951.1																						CTGCAAAGTAAAATGATCTTG	0.393000													25	84					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680333	18680333	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr9:18680333C>A	ENST00000380548.4	+	11	1499	c.1160C>A	c.(1159-1161)gCg>gAg	p.A387E	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A370E|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A387E|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A387E	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	387	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCATGGACCGCGTGCTCCTCC	0.602000													9	25					1.12685e-05	1.29818e-05	1	1	0
ETV1	2115	broad.mit.edu	37	7	13971233	13971233	+	Silent	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr7:13971233G>A	ENST00000343495.5	-	8	1380	c.642C>T	c.(640-642)caC>caT	p.H214H	ETV1_ENST00000405218.2_Silent_p.H232H|ETV1_ENST00000420159.2_Silent_p.H174H|ETV1_ENST00000403527.1_Silent_p.H192H|ETV1_ENST00000430479.1_Silent_p.H232H|ETV1_ENST00000399357.3_Silent_p.H129H|ETV1_ENST00000405192.2_Silent_p.H232H|ETV1_ENST00000242066.5_Silent_p.H214H|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Silent_p.H214H|ETV1_ENST00000405358.4_Silent_p.H246H			P50549	ETV1_HUMAN	ets variant 1	232					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H232H(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACACTGGGTCGTGGTACTCCT	0.522000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								9	37					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78401192	78401192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr12:78401192C>A	ENST00000397909.2	+	8	2047	c.1874C>A	c.(1873-1875)cCg>cAg	p.P625Q	NAV3_ENST00000536525.2_Missense_Mutation_p.P625Q|NAV3_ENST00000266692.7_Missense_Mutation_p.P625Q|NAV3_ENST00000228327.6_Missense_Mutation_p.P625Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	625						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.P625Q(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATAGCCACCCGAATACCGCG	0.478000										HNSCC(70;0.22)			26	122					1.17739e-12	1.64501e-12	1	1	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679151	37679151	+	Silent	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr13:37679151C>T	ENST00000379800.3	-	1	652	c.243G>A	c.(241-243)caG>caA	p.Q81Q		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	81	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TGTCTTTTTCCTGACCATACC	0.468000													17	68					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34526674	34526674	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr20:34526674G>T	ENST00000374012.3	+	16	2485	c.2356G>T	c.(2356-2358)Ggg>Tgg	p.G786W	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACAGCACTCAGGGGAGGGGAG	0.547000													15	132					1.52009e-12	2.09411e-12	1	1	0
MITF	4286	broad.mit.edu	37	3	69987132	69987132	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr3:69987132G>T	ENST00000352241.4	+	3	677	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	MITF_ENST00000472437.1_Missense_Mutation_p.V120L|MITF_ENST00000394351.3_Missense_Mutation_p.V65L|MITF_ENST00000314589.5_Missense_Mutation_p.V156L|MITF_ENST00000328528.6_Missense_Mutation_p.V171L|MITF_ENST00000314557.6_Missense_Mutation_p.V65L|MITF_ENST00000531774.1_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000448226.2_Missense_Mutation_p.V172L|MITF_ENST00000394355.2_Missense_Mutation_p.V147L	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	172					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CATGCCACCGGTGCCGGGGAG	0.507000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						10	57					1.52009e-12	2.09411e-12	1	1	0
ACVR1	90	broad.mit.edu	37	2	158637031	158637031	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:158637031C>A	ENST00000263640.3	-	4	578	c.149G>T	c.(148-150)gGc>gTc	p.G50V	ACVR1_ENST00000409283.2_Missense_Mutation_p.G50V|ACVR1_ENST00000434821.1_Missense_Mutation_p.G50V|ACVR1_ENST00000410057.2_Missense_Mutation_p.G50V|ACVR1_ENST00000487456.1_5'UTR	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	50					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GCACTGCTGGCCTTCACAGTG	0.507000													8	70					2.17888e-05	2.48115e-05	1	1	0
SBSN	374897	broad.mit.edu	37	19	36019165	36019165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:36019165C>A	ENST00000452271.2	-	1	47	c.19G>T	c.(19-21)Gtc>Ttc	p.V7F	SBSN_ENST00000518157.1_Missense_Mutation_p.V7F	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	7						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGGAGCCGACCAGACGTGCA	0.592000													12	22					7.03913e-09	8.88915e-09	1	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259808	90259808	+	RNA	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:90259808T>A	ENST00000471857.1	+	0	216																											CTCCTGGGGCTCCTGCTGCTC	0.537000													4	213					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567400	5567400	+	Missense_Mutation	SNP	G	G	C	rs71531321		TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr7:5567400G>C	ENST00000331789.5	-	6	1298	c.1107C>G	c.(1105-1107)atC>atG	p.I369M	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	369					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGCGGTGGACGATGGAGGGGC	0.537000													26	241					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57717908	57717908	+	Silent	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr16:57717908C>T	ENST00000333493.4	+	9	1107	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L196L|GPR97_ENST00000327655.6_Silent_p.L106L	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	316					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGTGGCAGCCTGTTCCTCCT	0.602000													26	57					0	0	1	0	0
CDK5R2	8941	broad.mit.edu	37	2	219825610	219825610	+	Silent	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:219825610C>A	ENST00000302625.4	+	1	1234	c.1068C>A	c.(1066-1068)gcC>gcA	p.A356A	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	356					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCGCGGCCGGAACCAAGC	0.751000													6	9					0.00116845	0.00125783	1	1	0
GPHA2	170589	broad.mit.edu	37	11	64702312	64702312	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:64702312C>T	ENST00000279168.2	-	4	377	c.323G>A	c.(322-324)aGg>aAg	p.R108K	GPHA2_ENST00000533257.1_Missense_Mutation_p.R108K	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	108						extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GAGCTCCTCCCTCCGGCTCCC	0.617000													21	68					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869067	52869067	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:52869067T>A	ENST00000601151.1	+	5	759	c.307T>A	c.(307-309)Tac>Aac	p.Y103N	ZNF610_ENST00000321287.8_Missense_Mutation_p.Y146N|ZNF610_ENST00000327920.8_Missense_Mutation_p.Y146N|ZNF610_ENST00000403906.3_Missense_Mutation_p.Y146N	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAGGAAAATTTACAGAAGTAA	0.348000													16	124					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798753	55798753	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:55798753C>A	ENST00000313555.1	+	1	859	c.859C>A	c.(859-861)Cca>Aca	p.P287T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CATGTTTAATCCAATAATTTA	0.343000													4	30					1.024e-07	1.2608e-07	1	1	0
WNT8B	7479	broad.mit.edu	37	10	102242322	102242322	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr10:102242322G>A	ENST00000343737.5	+	6	933	c.805G>A	c.(805-807)Ggc>Agc	p.G269S		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	269					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GGGCACCGAAGGCCGAGAGTG	0.706000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108128265	108128265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:108128265G>T	ENST00000278616.4	+	15	2693	c.2308G>T	c.(2308-2310)Gaa>Taa	p.E770*	ATM_ENST00000452508.2_Nonsense_Mutation_p.E770*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	770					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E770*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GACAAATGAGGAATTCAGAAT	0.328000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			21	48					3.01185e-09	3.85282e-09	1	1	0
AP3D1	8943	broad.mit.edu	37	19	2114778	2114778	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:2114778G>A	ENST00000355272.6	-	21	2598	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S	AP3D1_ENST00000356926.4_Missense_Mutation_p.P707S|AP3D1_ENST00000350812.6_Missense_Mutation_p.P629S|AP3D1_ENST00000345016.5_Missense_Mutation_p.P798S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	798					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGTAGGGGTCGTTGGGG	0.582000													9	84					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72166806	72166806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr16:72166806C>A	ENST00000537465.1	-	10	1446	c.1288G>T	c.(1288-1290)Gag>Tag	p.E430*	PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.E430*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.E285*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	430										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTCCAGCTCCTTCTCCTTT	0.512000													48	89					1.22102e-19	1.82227e-19	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70319334	70319334	+	Silent	SNP	G	G	A	rs145731249	by1000genomes	TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:70319334G>A	ENST00000338508.4	-	33	5192	c.5193C>T	c.(5191-5193)acC>acT	p.T1731T	SHANK2_ENST00000409161.1_Silent_p.T1134T|SHANK2_ENST00000449833.2_Silent_p.T1135T|SHANK2_ENST00000423696.2_Silent_p.T1351T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1351					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAGGAGAGGCGGTGGCAGCAG	0.597000													16	99					0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23667775	23667775	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr20:23667775G>T	ENST00000217423.3	-	2	362	c.292C>A	c.(292-294)Cag>Aag	p.Q98K		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	98						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AAGTTGGGCTGGGACTTGGTA	0.582000													21	192					7.26314e-15	1.05209e-14	1	1	0
FAM168A	23201	broad.mit.edu	37	11	73141755	73141755	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:73141755T>A	ENST00000064778.4	-	3	415	c.131A>T	c.(130-132)aAt>aTt	p.N44I	FAM168A_ENST00000450446.2_Missense_Mutation_p.N44I|FAM168A_ENST00000356467.4_Missense_Mutation_p.N44I			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	44										endometrium(3)|kidney(1)|lung(1)	5						ACTGGGACTATTGGTGGGGTA	0.507000													54	106					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886428	23886428	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:23886428T>A	ENST00000355349.3	-	32	4615	c.4453A>T	c.(4453-4455)Aag>Tag	p.K1485*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1485					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TAGGCGTTCTTGAGTTTGAAG	0.592000													18	157					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67590998	67590998	+	Silent	SNP	T	T	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr5:67590998T>C	ENST00000521381.1	+	13	2207	c.1591T>C	c.(1591-1593)Ttg>Ctg	p.L531L	PIK3R1_ENST00000521657.1_Silent_p.L531L|PIK3R1_ENST00000320694.8_Silent_p.L231L|PIK3R1_ENST00000274335.5_Silent_p.L531L|PIK3R1_ENST00000336483.5_Silent_p.L261L|PIK3R1_ENST00000396611.1_Silent_p.L531L|PIK3R1_ENST00000523872.1_Silent_p.L168L	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	531					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTATGATAAGTTGAAGTCTCG	0.363000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			6	43					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947181	237947181	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:237947181C>G	ENST00000366574.2	+	90	12486	c.12169C>G	c.(12169-12171)Cac>Gac	p.H4057D	RYR2_ENST00000542537.1_Missense_Mutation_p.H4041D|RYR2_ENST00000360064.6_Missense_Mutation_p.H4063D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4057	EF-hand.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGCCATAAGCACTACACGCA	0.468000													5	23					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230556	147230556	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:147230556G>T	ENST00000271348.2	-	2	952	c.791C>A	c.(790-792)cCc>cAc	p.P264H	GJA5_ENST00000369237.1_Missense_Mutation_p.P264H	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	264					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AAAGTCGGGGGGTGGTGTGCA	0.527000													18	98					5.03518e-11	6.74783e-11	1	1	0
MORC1	27136	broad.mit.edu	37	3	108829596	108829596	+	Splice_Site	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr3:108829596C>A	ENST00000232603.5	-	3	236	c.154_splice	c.e3+1	p.V52_splice	MORC1_ENST00000483760.1_Splice_Site_p.V52_splice	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	52					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATCTGCTCACCTGAAAAGACA	0.294000													3	18					0.00024832	0.000277949	1	1	0
OCA2	4948	broad.mit.edu	37	15	28235784	28235784	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr15:28235784T>A	ENST00000354638.3	-	10	1209	c.1054A>T	c.(1054-1056)Aga>Tga	p.R352*	OCA2_ENST00000353809.5_Intron|OCA2_ENST00000382996.2_Nonsense_Mutation_p.R352*	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	352					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCCAGAGTTCTGTGCACGATC	0.542000									Oculocutaneous Albinism				28	129					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128384580	128384580	+	Silent	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:128384580C>T	ENST00000389524.4	+	31	4221	c.4168C>T	c.(4168-4170)Ctg>Ttg	p.L1390L	MYO7B_ENST00000409816.2_Silent_p.L1390L|MYO7B_ENST00000409090.1_Silent_p.L243L|MYO7B_ENST00000428314.1_Silent_p.L1390L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1390	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGTCACACCACTGGCCGTGCG	0.612000													5	12					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70480191	70480191	+	Silent	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:70480191G>T	ENST00000381280.4	+	10	1282	c.1029G>T	c.(1027-1029)gcG>gcT	p.A343A	SMOC1_ENST00000361956.3_Silent_p.A343A	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	343					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACTCAGCAGCGCCCACTGGAG	0.512000											OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	89					0.00829132	0.00859679	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31324952	31324952	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr18:31324952A>C	ENST00000269197.5	+	12	5140	c.5140A>C	c.(5140-5142)Agt>Cgt	p.S1714R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1714					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCCACCTCAAGTCCCATGGA	0.552000													20	68					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7910764	7910764	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr17:7910764A>G	ENST00000254854.4	+	6	1634	c.1484A>G	c.(1483-1485)cAa>cGa	p.Q495R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	495					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTTCACATGCAAATGGTCTCC	0.597000													20	121					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512610	248512610	+	Silent	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:248512610C>T	ENST00000317861.1	+	1	534	c.534C>T	c.(532-534)gaC>gaT	p.D178D		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCTTCTGTGACATCCCCTCTC	0.512000													24	61					0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47060987	47060987	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chrX:47060987G>T	ENST00000335972.6	+	8	972	c.789G>T	c.(787-789)caG>caT	p.Q263H	UBA1_ENST00000377351.4_Missense_Mutation_p.Q263H	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	263	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACGGAAATCAGCCCATGGAGA	0.552000													14	9					1.37285e-15	2.03347e-15	1	1	0
ANK1	286	broad.mit.edu	37	8	41522415	41522415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr8:41522415C>A	ENST00000457297.1	-	1	389	c.127G>T	c.(127-129)Gag>Tag	p.E43*	ANK1_ENST00000522543.1_Nonsense_Mutation_p.E43*|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000265709.8_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000522231.1_Nonsense_Mutation_p.E43*|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000314214.8_Nonsense_Mutation_p.E43*	NM_020480.4	NP_065213.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	35	89 kDa domain.				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)			TTGTCCAGCTCCTGGTGGATG	0.612000													4	32					1.23904e-05	1.41913e-05	1	1	0
SLC27A4	10999	broad.mit.edu	37	9	131118034	131118034	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr9:131118034G>T	ENST00000300456.3	+	12	1850	c.1733G>T	c.(1732-1734)cGc>cTc	p.R578L	SLC27A4_ENST00000372870.1_Missense_Mutation_p.R172L	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	578					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CTGTATGCGCGCCCCATCTTC	0.637000													26	82					9.65021e-13	1.35792e-12	1	1	0
OR7C2	26658	broad.mit.edu	37	19	15053212	15053212	+	Silent	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:15053212C>A	ENST00000248072.3	+	1	912	c.912C>A	c.(910-912)ctC>ctA	p.L304L		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GGAGACTCCTCCTCAGGGCAA	0.527000													6	58					0.0215528	0.0217738	1	1	0
HLA-C	3107	broad.mit.edu	37	6	31238055	31238055	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr6:31238055C>A	ENST00000383329.3	-	4	841	c.827G>T	c.(826-828)gGa>gTa	p.G276V	HLA-C_ENST00000376228.5_Missense_Mutation_p.G276V			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	276	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCTCTTGTCCAGAAGGCAC	0.607000													5	19					0.00116845	0.00125783	1	1	0
RFX1	5989	broad.mit.edu	37	19	14076266	14076266	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:14076266C>A	ENST00000254325.4	-	16	2440	c.2206G>T	c.(2206-2208)Gtg>Ttg	p.V736L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	736					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTCACCTTCACCCGCAGCATC	0.617000													45	148					6.4308e-24	9.89741e-24	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154875951	154875951	+	Silent	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr7:154875951G>A	ENST00000287907.2	+	2	1404	c.828G>A	c.(826-828)cgG>cgA	p.R276R	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	276						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACACGTGGCGGGAGCAGAAGG	0.612000													3	47					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197584364	197584364	+	Silent	SNP	A	A	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:197584364A>T	ENST00000389175.4	+	19	2274	c.2139A>T	c.(2137-2139)tcA>tcT	p.S713S	CCDC150_ENST00000409270.1_Silent_p.S200S|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Silent_p.S360S	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	713										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGAGGGATTCAGAGATTGCAG	0.438000													5	18					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528750	20528750	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:20528750C>A	ENST00000315683.1	+	1	547	c.547C>A	c.(547-549)Ctt>Att	p.L183I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGATCTTCCCCTTGTGATCAA	0.398000													17	200					1.33834e-09	1.73455e-09	1	1	0
USP17L2	377630	broad.mit.edu	37	8	11994973	11994973	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr8:11994973T>G	ENST00000333796.3	-	1	1613	c.1297A>C	c.(1297-1299)Acc>Ccc	p.T433P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	433					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGGTCTAAGGTGCTTTCCTGA	0.542000													9	32					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672130	49672130	+	Silent	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr16:49672130G>T	ENST00000561648.1	-	4	986	c.933C>A	c.(931-933)ctC>ctA	p.L311L	ZNF423_ENST00000563137.2_Silent_p.L251L|ZNF423_ENST00000562520.1_Silent_p.L251L|ZNF423_ENST00000535559.1_Silent_p.L194L|ZNF423_ENST00000262383.2_Silent_p.L311L|ZNF423_ENST00000562871.1_Silent_p.L251L|ZNF423_ENST00000567169.1_Silent_p.L194L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	311					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGATATGGGCGAGCAGTGTGT	0.607000													19	40					1.96292e-10	2.5609e-10	1	1	0
RABGGTB	5876	broad.mit.edu	37	1	76253189	76253189	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:76253189C>G	ENST00000319942.3	+	2	82	c.11C>G	c.(10-12)cCa>cGa	p.P4R	RABGGTB_ENST00000370826.3_Missense_Mutation_p.P4R|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	4					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						AAGGGCACTCCACAGAAGGAT	0.378000													9	50					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755170	1755170	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr12:1755170C>G	ENST00000397196.2	+	5	1064	c.832C>G	c.(832-834)Ctg>Gtg	p.L278V	WNT5B_ENST00000310594.3_Missense_Mutation_p.L278V|WNT5B_ENST00000537031.1_Missense_Mutation_p.L278V|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	278					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CCCGGAGGACCTGGTCTATGT	0.687000													14	44					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835488	102835488	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:102835488A>G	ENST00000264257.2	+	7	926	c.800A>G	c.(799-801)aAc>aGc	p.N267S	IL1RL2_ENST00000441515.2_Missense_Mutation_p.N149S|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.N267S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	267	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGAGTCAATAACACTTTGGTG	0.378000													15	92					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96233568	96233568	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr9:96233568G>A	ENST00000277165.6	+	2	814	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	FAM120A_ENST00000333936.5_Missense_Mutation_p.R207Q|FAM120A_ENST00000375389.3_Missense_Mutation_p.R207Q|FAM120A_ENST00000340893.4_Missense_Mutation_p.R207Q	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	207						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAACTGAGCCGGAACGGGAAA	0.458000													11	75					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058115	56058115	+	Missense_Mutation	SNP	C	C	A	rs142532321		TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:56058115C>A	ENST00000313022.2	-	1	451	c.424G>T	c.(424-426)Gct>Tct	p.A142S		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A142T(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTGACAAGAGCGCAACACAGC	0.443000													10	47					1.76689e-08	2.21706e-08	1	1	0
OR52A1	23538	broad.mit.edu	37	11	5172979	5172979	+	Silent	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:5172979G>A	ENST00000380367.1	-	2	1038	c.621C>T	c.(619-621)ttC>ttT	p.F207F	OR52A1_ENST00000328942.1_Silent_p.F207F			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	207					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTACAGTGAAGGCCACAA	0.423000													16	101					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758643	77758643	+	Silent	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr17:77758643G>A	ENST00000310942.4	+	5	1505	c.1401G>A	c.(1399-1401)tcG>tcA	p.S467S		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	467	Poly-Ser.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTAGCAGCTCGGACTCCGACC	0.682000													8	21					0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19906467	19906467	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:19906467T>A	ENST00000443905.2	-	4	376	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	ZNF506_ENST00000540806.2_Missense_Mutation_p.M77L|ZNF506_ENST00000450683.2_Missense_Mutation_p.M45L|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TGAGAATACATAACTGAAAGA	0.303000													9	22					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25771165	25771165	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr6:25771165G>T	ENST00000377905.4	+	6	750	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	211					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCAATGCTGGGGTCCTTCAT	0.493000													33	121					2.19489e-29	3.40467e-29	1	1	0
ASMT	438	broad.mit.edu	37	X	1746629	1746629	+	Silent	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chrX:1746629C>A	ENST00000381241.3	+	4	607	c.408C>A	c.(406-408)ggC>ggA	p.G136G	ASMT_ENST00000381229.4_Silent_p.G136G|ASMT_ENST00000381233.3_Silent_p.G136G	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	136					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGACGTTTGGCGTTCCCGCTG	0.378000													22	169					4.7796e-09	6.07472e-09	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201029913	201029913	+	Missense_Mutation	SNP	C	C	T	rs142102094	by1000genomes	TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:201029913C>T	ENST00000362061.3	-	26	3513	c.3287G>A	c.(3286-3288)cGc>cAc	p.R1096H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1096H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1096					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.R1096H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCAGTGGGCGGGCCTTCAG	0.532000													5	368					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	436408	436408	+	Silent	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:436408G>A	ENST00000264554.6	-	6	797	c.798C>T	c.(796-798)taC>taT	p.Y266Y		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	266	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGGCGACGTAGGCCACGT	0.716000													7	54					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280504	152280504	+	Silent	SNP	G	G	A	rs141571186		TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:152280504G>A	ENST00000368799.1	-	3	6893	c.6858C>T	c.(6856-6858)caC>caT	p.H2286H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2286	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTCTTCGTGATGGGACC	0.557000									Ichthyosis				54	782					0	0	1	0	0
C14orf182	283551	broad.mit.edu	37	14	50458973	50458973	+	Splice_Site	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:50458973C>A	ENST00000399206.1	-	3	2093		c.e3+1		C14orf182_ENST00000529902.1_Splice_Site	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182											large_intestine(2)|urinary_tract(1)	3						ATTCAACTTACCTCATTCATT	0.398000													25	84					1.04121e-07	1.27403e-07	1	1	0
LEMD2	221496	broad.mit.edu	37	6	33756865	33756865	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr6:33756865C>G	ENST00000293760.5	-	1	48	c.29G>C	c.(28-30)cGg>cCg	p.R10P		NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	10	LEM.					integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CAGCTCCCGCCGCAGTTCCAG	0.766000													6	31					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099440	27099440	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:27099440A>G	ENST00000324856.7	+	14	4048	c.3677A>G	c.(3676-3678)tAt>tGt	p.Y1226C	ARID1A_ENST00000457599.2_Missense_Mutation_p.Y1226C|ARID1A_ENST00000374152.2_Missense_Mutation_p.Y843C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1226					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.M1220fs*9(1)|p.M1220fs*2(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGCATGTCCTATGAGCCAAAT	0.488000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								23	58					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866584	106866584	+	RNA	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:106866584C>A	ENST00000390618.2	-	0	247																											TGGAGCCTGGCGGATCCAGCT	0.582000													58	184					1.74971e-23	2.67204e-23	1	1	0
MRPS18C	51023	broad.mit.edu	37	4	84377294	84377294	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr4:84377294G>A	ENST00000295491.4	+	1	177	c.64G>A	c.(64-66)Gct>Act	p.A22T	MRPS18C_ENST00000507019.1_Missense_Mutation_p.A22T|MRPS18C_ENST00000507349.1_Missense_Mutation_p.A22T	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	22					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				CTTGGTAACGGCTGCTGTCAG	0.512000													24	128					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3125497	3125497	+	Silent	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:3125497G>T	ENST00000263650.7	-	10	1329	c.1170C>A	c.(1168-1170)ccC>ccA	p.P390P	OSBPL5_ENST00000525498.1_Silent_p.P301P|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.P322P|OSBPL5_ENST00000389989.3_Silent_p.P322P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	390					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTACGAACGTGGGTAGCACCA	0.627000													8	68					0.000157383	0.000178187	1	1	0
TNRC6C	57690	broad.mit.edu	37	17	76046101	76046101	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr17:76046101G>A	ENST00000335749.4	+	3	1527	c.958G>A	c.(958-960)Gtt>Att	p.V320I	TNRC6C_ENST00000544502.1_Missense_Mutation_p.V320I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V320I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V320I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V320I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V320I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	320	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAACAATGGCGTTGGTAATAT	0.557000													6	73					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12434185	12434185	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr3:12434185A>G	ENST00000397026.2	+	6	870	c.487A>G	c.(487-489)Aaa>Gaa	p.K163E	PPARG_ENST00000397012.2_Missense_Mutation_p.K157E|PPARG_ENST00000397000.1_Missense_Mutation_p.K157E|PPARG_ENST00000397010.2_Missense_Mutation_p.K157E|PPARG_ENST00000309576.6_Missense_Mutation_p.K157E|PPARG_ENST00000539812.1_Missense_Mutation_p.K155E|PPARG_ENST00000397015.2_Missense_Mutation_p.K157E|PPARG_ENST00000287820.6_Missense_Mutation_p.K185E			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	185					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GATCCACAAAAAAAGTAGAAA	0.363000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						8	55					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875362	247875362	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:247875362A>T	ENST00000302084.2	-	1	743	c.696T>A	c.(694-696)agT>agA	p.S232R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGCTCCGGCCACTGGCAGAGG	0.522000													13	98					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784592	140784592	+	Silent	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr5:140784592C>G	ENST00000573521.1	+	1	2073	c.2073C>G	c.(2071-2073)ctC>ctG	p.L691L	PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTACCCTCTACCTCGTTG	0.592000													32	103					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65480099	65480099	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chrX:65480099G>C	ENST00000519389.1	+	19	3535	c.3356G>C	c.(3355-3357)cGa>cCa	p.R1119P	HEPH_ENST00000343002.2_Missense_Mutation_p.R1065P|HEPH_ENST00000419594.1_Missense_Mutation_p.R876P|HEPH_ENST00000336279.5_Missense_Mutation_p.R798P|HEPH_ENST00000374727.3_Missense_Mutation_p.R1068P|HEPH_ENST00000441993.2_Missense_Mutation_p.R1068P			Q9BQS7	HEPH_HUMAN	hephaestin	1065					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTTTTTTCTCGAACAGGTAAG	0.473000													16	11					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2129					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667000													3	35					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105404423	105404423	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:105404423C>T	ENST00000333244.5	-	7	17484	c.17365G>A	c.(17365-17367)Ggc>Agc	p.G5789S	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G787S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5789						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCCCAGGCCTGACCCTTTG	0.498000													11	46					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962266	151962266	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr7:151962266G>C	ENST00000355193.2	-	8	1259	c.1041C>G	c.(1039-1041)tgC>tgG	p.C347W	KMT2C_ENST00000262189.6_Missense_Mutation_p.C347W					lysine (K)-specific methyltransferase 2C																		CCGGGCTGTCGCACACTGCAC	0.378000													5	214					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777637	123777637	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:123777637T>A	ENST00000321355.2	+	1	529	c.499T>A	c.(499-501)Tct>Act	p.S167T		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ACTCAGGTTGTCTTTCTGTGG	0.423000													16	184					0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51483496	51483496	+	Splice_Site	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:51483496C>A	ENST00000391807.1	-	4	570	c.469_splice	c.e4+1	p.V157_splice	KLK7_ENST00000336317.4_Splice_Site_p.V44_splice|KLK7_ENST00000597707.1_Splice_Site_p.V85_splice|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Splice_Site_p.V157_splice	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	157	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		ggCCACCTACCATCTGGGCTC	0.662000													9	14					0.000442599	0.000489843	1	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90500907	90500907	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr9:90500907A>T	ENST00000325643.5	+	4	1571	c.1505A>T	c.(1504-1506)cAg>cTg	p.Q502L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		cacatggcccagccccaacat	0.632000													20	46					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961245	34961245	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chrX:34961245G>T	ENST00000329357.5	+	1	333	c.297G>T	c.(295-297)aaG>aaT	p.K99N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	99										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGCTCAAGAAAGCGGCCC	0.527000													13	29					0.00244969	0.00260859	1	1	0
OR1Q1	158131	broad.mit.edu	37	9	125377261	125377261	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr9:125377261T>A	ENST00000297913.2	+	1	314	c.245T>A	c.(244-246)cTg>cAg	p.L82Q	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CCCAAGATGCTGCAGATTATT	0.473000													41	180					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276429	186276429	+	Silent	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:186276429C>T	ENST00000445192.2	+	7	1623	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T483T|PRG4_ENST00000367485.4_Silent_p.T433T|PRG4_ENST00000367483.4_Silent_p.T485T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	526	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGTCTG	0.637000													4	131					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616827	77616827	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr8:77616827C>A	ENST00000521891.2	+	2	952	c.504C>A	c.(502-504)gaC>gaA	p.D168E	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D168E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D168E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D168E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	168						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTTCCTGGACTCCCTGGCAT	0.473000										HNSCC(33;0.089)			7	28					0.00198382	0.00212398	1	1	0
TRIM46	80128	broad.mit.edu	37	1	155150586	155150586	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:155150586C>A	ENST00000392451.2	+	6	1101	c.1018C>A	c.(1018-1020)Cag>Aag	p.Q340K	TRIM46_ENST00000368382.1_Missense_Mutation_p.Q317K|TRIM46_ENST00000543729.1_Missense_Mutation_p.Q347K|TRIM46_ENST00000334634.4_Missense_Mutation_p.Q340K|TRIM46_ENST00000545012.1_Missense_Mutation_p.Q214K|TRIM46_ENST00000368383.3_Missense_Mutation_p.Q340K|TRIM46_ENST00000368385.4_Missense_Mutation_p.Q340K|TRIM46_ENST00000468878.1_3'UTR			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	340						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAATGCCAGCAGGAGCGGCT	0.637000													21	50					3.51602e-12	4.81011e-12	1	1	0
EEF1A2	1917	broad.mit.edu	37	20	62122063	62122063	+	Silent	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr20:62122063C>A	ENST00000217182.3	-	6	963	c.798G>T	c.(796-798)cgG>cgT	p.R266R	EEF1A2_ENST00000298049.7_Silent_p.R266R	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	266						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGGTCTCCACCCGGCCCACGG	0.662000													10	48					1.08611e-07	1.31266e-07	1	1	0
RHOJ	57381	broad.mit.edu	37	14	63735888	63735888	+	Splice_Site	SNP	T	T	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:63735888T>C	ENST00000316754.3	+	2	699		c.e2+2		RHOJ_ENST00000555125.1_Splice_Site|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J						actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCGGGACAGGTACATTTTTAT	0.453000													5	74					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88897527	88897527	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:88897527A>T	ENST00000556553.1	+	9	1503	c.944A>T	c.(943-945)cAg>cTg	p.Q315L	SPATA7_ENST00000356583.5_Missense_Mutation_p.Q315L|SPATA7_ENST00000045347.7_Missense_Mutation_p.Q347L|SPATA7_ENST00000393545.4_Missense_Mutation_p.Q347L			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	347					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GCAATGTGTCAGTATTCCCTG	0.358000													76	137					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905118	86905118	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr9:86905118C>G	ENST00000376238.4	-	11	1149	c.1100G>C	c.(1099-1101)gGg>gCg	p.G367A	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G298A	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	367			G -> R (reduced transport of inosine and thymidine).		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGTAGAGAACCCGGCGGTCAT	0.458000													12	63					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104356990	104356990	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr10:104356990G>T	ENST00000369902.3	+	7	1016	c.850G>T	c.(850-852)Gat>Tat	p.D284Y	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.D284Y|SUFU_ENST00000369899.2_Missense_Mutation_p.D284Y	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	284					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCCCCCCGAGGATGACGAGGA	0.607000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	127					5.50884e-06	6.38377e-06	1	1	0
NOD2	64127	broad.mit.edu	37	16	50756544	50756544	+	Missense_Mutation	SNP	A	A	T	rs75934273		TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr16:50756544A>T	ENST00000300589.2	+	8	2831	c.2726A>T	c.(2725-2727)aAc>aTc	p.N909I		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	909					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TTCTGGGGCAACAGAGTGGGT	0.527000													99	335					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10610139	10610139	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:10610139C>T	ENST00000171111.5	-	2	1118	c.571G>A	c.(571-573)Gct>Act	p.A191T	KEAP1_ENST00000393623.2_Missense_Mutation_p.A191T|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	191	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATCTGCTCAGCGAAGTTGGCG	0.607000													6	40					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58711300	58711300	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr17:58711300T>C	ENST00000305921.3	+	3	1020	c.788T>C	c.(787-789)aTt>aCt	p.I263T		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	263	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGCACAGTTATTGACCAGATT	0.378000													8	85					0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17451852	17451852	+	Splice_Site	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:17451852G>T	ENST00000324894.8	+	8	1042		c.e8-1		GTPBP3_ENST00000361619.5_Splice_Site|GTPBP3_ENST00000600625.1_Intron|GTPBP3_ENST00000598038.1_Intron|GTPBP3_ENST00000358792.7_Splice_Site	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)						tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TGCTCCCGCAGGCTAGAGCAG	0.612000													13	47					9.05144e-12	1.22975e-11	1	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712464	140712464	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr5:140712464C>T	ENST00000517417.1	+	1	2213	c.2213C>T	c.(2212-2214)tCg>tTg	p.S738L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S738L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCGGTTCGCACTTTGTG	0.642000													24	80					0	0	1	0	0
RDH13	112724	broad.mit.edu	37	19	55556498	55556498	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:55556498C>A	ENST00000396247.3	-	8	1199	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S	CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|RDH13_ENST00000415061.3_Missense_Mutation_p.A314S	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	314							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	ACCAGGCGGGCACTTTCAGCC	0.622000													10	23					1.33987e-11	1.80791e-11	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92765094	92765094	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr7:92765094G>A	ENST00000318238.4	-	5	1407	c.191C>T	c.(190-192)cCa>cTa	p.P64L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P64L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P64L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	64	SAM.									central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAAAAGTGCTGGACCCCATGG	0.413000													14	92					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94526457	94526457	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:94526457C>A	ENST00000330836.5	-	5	2031	c.1900G>T	c.(1900-1902)Gcc>Tcc	p.A634S	DDX24_ENST00000555054.1_Missense_Mutation_p.A591S|DDX24_ENST00000544005.1_Missense_Mutation_p.A384S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	634	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCCAGACGGGCAAACTGCTCC	0.517000													27	50					4.87955e-14	7.01659e-14	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886072	88886072	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr8:88886072C>A	ENST00000319675.3	-	1	224	c.128G>T	c.(127-129)tGc>tTc	p.C43F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	43										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGCTATACGGCAATAGTTGGC	0.507000													14	78					6.81908e-15	9.9508e-15	1	1	0
MITF	4286	broad.mit.edu	37	3	69987131	69987131	+	Silent	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr3:69987131G>T	ENST00000352241.4	+	3	676	c.513G>T	c.(511-513)ccG>ccT	p.P171P	MITF_ENST00000472437.1_Silent_p.P119P|MITF_ENST00000394351.3_Silent_p.P64P|MITF_ENST00000314589.5_Silent_p.P155P|MITF_ENST00000328528.6_Silent_p.P170P|MITF_ENST00000314557.6_Silent_p.P64P|MITF_ENST00000531774.1_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000448226.2_Silent_p.P171P|MITF_ENST00000394355.2_Silent_p.P146P	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	171					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCATGCCACCGGTGCCGGGGA	0.502000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						11	57					8.60227e-14	1.22801e-13	1	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307265	39307265	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr3:39307265G>A	ENST00000541347.1	-	2	975	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	CX3CR1_ENST00000399220.2_Missense_Mutation_p.P246S|CX3CR1_ENST00000358309.3_Missense_Mutation_p.P278S|CX3CR1_ENST00000542107.1_Missense_Mutation_p.P246S	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	246					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		ACGTTGTAGGGTGTCCAGAAG	0.468000													13	40					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28991245	28991245	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr18:28991245C>G	ENST00000359747.4	+	14	2275	c.2246C>G	c.(2245-2247)tCg>tGg	p.S749W	DSG4_ENST00000308128.4_Missense_Mutation_p.S730W|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	730					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAGGTGTATCGGGAGTGGAG	0.607000													29	93					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457333	45457333	+	RNA	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr12:45457333T>A	ENST00000548424.1	+	0	448																											CTCCCAAATCTGGGAGTGTTC	0.488000													5	58					0	0	1	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89916917	89916917	+	Silent	SNP	A	A	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr12:89916917A>G	ENST00000548729.1	-	3	1703	c.1401T>C	c.(1399-1401)gcT>gcC	p.A467A	POC1B-GALNT4_ENST00000413530.1_Silent_p.A298A|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Silent_p.A470A|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					GTGAAAGGTTAGCACCTGTGG	0.418000													18	53					0	0	1	0	0
NAT8	9027	broad.mit.edu	37	2	73868535	73868535	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:73868535A>T	ENST00000272425.3	-	2	370	c.221T>A	c.(220-222)cTg>cAg	p.L74Q		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	74	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AAGGAACCACAGGGCAGGGAA	0.552000													30	84					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7637286	7637286	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr16:7637286A>G	ENST00000340209.4	+	4	764	c.467A>G	c.(466-468)aAt>aGt	p.N156S	RBFOX1_ENST00000553186.1_Missense_Mutation_p.N151S|RBFOX1_ENST00000355637.4_Missense_Mutation_p.N171S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.N194S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.N151S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.N151S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.N171S|RBFOX1_ENST00000535565.2_Missense_Mutation_p.N139S|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.N194S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.N171S			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	151	RRM.	Interaction with RNA.			mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATTATTTTTAATGAGCGAGGC	0.289000													7	67					0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	106015389	106015389	+	Silent	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:106015389G>T	ENST00000344213.4	-	1	292	c.165C>A	c.(163-165)gcC>gcA	p.A55A	FHL2_ENST00000408995.1_Intron|FHL2_ENST00000322142.8_Intron|FHL2_ENST00000393353.3_5'UTR|FHL2_ENST00000409177.1_Intron|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000607522.1_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000336660.5_Intron			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TAAGCCCCTCGGCCTCCCTCC	0.736000													4	7					0.00909568	0.00938141	1	1	0
AWAT1	158833	broad.mit.edu	37	X	69455988	69455988	+	Splice_Site	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chrX:69455988C>A	ENST00000374521.3	+	3	295	c.255_splice	c.e3+1	p.T85_splice	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	85					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	p.T165M(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TTCCCCATTACGGTAAGTATC	0.483000													17	26					1.96292e-10	2.5609e-10	1	1	0
CDAN1	146059	broad.mit.edu	37	15	43021262	43021262	+	Silent	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr15:43021262G>A	ENST00000356231.3	-	19	2627	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	868			F -> I (in CDA1).			integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTTCTGCCACGAACTCTACGG	0.547000													15	117					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544152	73544152	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr10:73544152G>A	ENST00000224721.6	+	41	5497	c.5492G>A	c.(5491-5493)cGg>cAg	p.R1831Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1826	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCCGTGACCGGGGGATGCCC	0.617000													10	60					0	0	1	0	0
MT-ND1	4535	broad.mit.edu	37	MT	3688	3688	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chrM:3688G>A	ENST00000361390.2	+	1	382	c.382G>A	c.(382-384)Gcc>Acc	p.128_128insT						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						ACTCAAACTACGCCCTGATCG	0.473000													5	4					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077881	95077881	+	Silent	SNP	T	T	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr9:95077881T>C	ENST00000545558.1	-	7	1518	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	NOL8_ENST00000542053.1_Silent_p.K274K|NOL8_ENST00000358855.4_Silent_p.K274K|NOL8_ENST00000535387.1_Silent_p.K342K|NOL8_ENST00000442668.2_Silent_p.K342K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	342					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GAACGCCTGATTTGAAATCAT	0.353000													4	18					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169349788	169349788	+	Silent	SNP	T	T	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:169349788T>C	ENST00000367808.3	+	5	1161	c.738T>C	c.(736-738)gcT>gcC	p.A246A	BLZF1_ENST00000329281.2_Silent_p.A246A			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	246					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CACACGGGGCTATACAAGATC	0.403000													4	81					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82430833	82430833	+	Splice_Site	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr7:82430833C>A	ENST00000333891.8	-	22	15345		c.e22+1			NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTTACTTACCTTCAGTGTC	0.338000													15	37					3.27435e-08	4.08258e-08	1	1	0
SLK	9748	broad.mit.edu	37	10	105770586	105770586	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr10:105770586G>A	ENST00000369755.3	+	13	3342	c.2797G>A	c.(2797-2799)Gtg>Atg	p.V933M	SLK_ENST00000474260.1_Intron|SLK_ENST00000335753.4_Intron	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	933					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TATAAATGAAGTGGAGAAAGC	0.438000													5	35					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656968	46656968	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr6:46656968G>A	ENST00000544460.1	+	1	1357	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	TDRD6_ENST00000316081.6_Missense_Mutation_p.R368Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	368	Tudor 2.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAATATTTTCGAATGCCGGTG	0.547000													19	84					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110762846	110762846	+	Silent	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr7:110762846C>A	ENST00000451085.1	+	4	1064	c.18C>A	c.(16-18)ctC>ctA	p.L6L	LRRN3_ENST00000308478.5_Silent_p.L6L|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Silent_p.L6L|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	6						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACATGCCACTCCGAATTCATG	0.418000													17	78					5.3912e-06	6.32183e-06	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	30					0.000442599	0.000489843	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	105					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42684893	42684893	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr15:42684893C>G	ENST00000397163.3	+	7	1221	c.1002C>G	c.(1000-1002)caC>caG	p.H334Q	CAPN3_ENST00000357568.3_Missense_Mutation_p.H334Q|CAPN3_ENST00000356316.3_Missense_Mutation_p.H247Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.H286Q|CAPN3_ENST00000318023.7_Missense_Mutation_p.H334Q	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	334	Calpain catalytic.		H -> Q (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCAGAGGTCACGCCTACTCTG	0.567000													12	36					0	0	1	0	0
NCALD	83988	broad.mit.edu	37	8	102731524	102731524	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr8:102731524C>T	ENST00000395923.1	-	4	793	c.334G>A	c.(334-336)Gga>Aga	p.G112R	NCALD_ENST00000522951.1_Missense_Mutation_p.G112R|NCALD_ENST00000220931.6_Missense_Mutation_p.G112R|NCALD_ENST00000521599.1_Missense_Mutation_p.G112R|NCALD_ENST00000519508.2_Missense_Mutation_p.G112R|NCALD_ENST00000311028.3_Missense_Mutation_p.G112R	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	112	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TAGCCATTTCCGTCCAGGTCG	0.463000													15	133					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895908	77895908	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr18:77895908G>T	ENST00000262198.4	+	4	3067	c.2612G>T	c.(2611-2613)gGc>gTc	p.G871V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	871					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGGAGCACCGGCAAGCGAGTG	0.577000													11	56					1.08611e-07	1.31266e-07	1	1	0
SEL1L2	80343	broad.mit.edu	37	20	13847462	13847462	+	Silent	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr20:13847462G>T	ENST00000284951.5	-	15	1364	c.1290C>A	c.(1288-1290)gcC>gcA	p.A430A	SEL1L2_ENST00000378072.5_Silent_p.A430A|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	430						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATATTTGAAGGCAAGTTTAT	0.368000													13	86					5.50884e-06	6.38377e-06	1	1	0
SLIT1	6585	broad.mit.edu	37	10	98807524	98807524	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr10:98807524A>T	ENST00000266058.4	-	16	1802	c.1557T>A	c.(1555-1557)tgT>tgA	p.C519*	SLIT1_ENST00000371070.4_Nonsense_Mutation_p.C519*|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	519	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGTTGGCCTCACAGCGGCACT	0.642000													20	55					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486463	133486463	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:133486463C>T	ENST00000409261.1	-	18	5879	c.5506G>A	c.(5506-5508)Gga>Aga	p.G1836R	NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1836R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.G517R|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G517R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1836							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAGCATATCCGAATGATGAG	0.537000													19	250					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156926306	156926306	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:156926306C>T	ENST00000368194.3	-	19	2616	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R486H	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	486					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTCGAAGACGGATCCCAGC	0.532000													13	172					0	0	1	0	0
TPSD1	23430	broad.mit.edu	37	16	1306688	1306688	+	Splice_Site	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr16:1306688C>T	ENST00000211076.3	+	2	402	c.254_splice	c.e2+1	p.P85_splice	TPSD1_ENST00000397534.2_Splice_Site_p.P78_splice	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	85	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCGTGGAACCGTGAGTCTCC	0.697000													6	52					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278958	152278958	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:152278958G>A	ENST00000368799.1	-	3	8439	c.8404C>T	c.(8404-8406)Cac>Tac	p.H2802Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2802	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGCTCGTGGTGGTACCCC	0.607000									Ichthyosis				105	1100					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467836	66467836	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr4:66467836C>T	ENST00000273854.3	-	3	1033	c.433G>A	c.(433-435)Ggg>Agg	p.G145R	EPHA5_ENST00000354839.4_Missense_Mutation_p.G145R|EPHA5_ENST00000511294.1_Missense_Mutation_p.G145R|EPHA5_ENST00000432638.2_Missense_Mutation_p.G145R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	145					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTACAGGTCCCCAGTCCTCCA	0.423000										TSP Lung(17;0.13)			15	52					0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138857009	138857009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr5:138857009C>A	ENST00000330794.4	-	7	1184	c.851G>T	c.(850-852)aGg>aTg	p.R284M		NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	284					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)			CTGCTCAAGCCTATCCTCCCG	0.572000													26	90					4.4004e-07	5.22216e-07	1	1	0
SERPINA6	866	broad.mit.edu	37	14	94780810	94780810	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:94780810G>T	ENST00000341584.3	-	2	322	c.176C>A	c.(175-177)cCc>cAc	p.P59H		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	59					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTTCTTTTTGGGACTCAAGGC	0.547000													5	51					0.014758	0.0149862	1	1	0
SLC6A19	340024	broad.mit.edu	37	5	1213651	1213651	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr5:1213651G>T	ENST00000304460.10	+	5	793	c.737G>T	c.(736-738)gGc>gTc	p.G246V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	246					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGCTGAAGGGCGCCACCAAT	0.667000													6	63					0.0293803	0.0295302	1	1	0
GUF1	60558	broad.mit.edu	37	4	44687997	44687997	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr4:44687997A>G	ENST00000281543.5	+	7	885	c.691A>G	c.(691-693)Aat>Gat	p.N231D	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	231					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACTTGGAACAAATGTTGAGAG	0.313000													6	68					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886429	23886429	+	Silent	SNP	G	G	A	rs61737803	byFrequency	TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:23886429G>A	ENST00000355349.3	-	32	4614	c.4452C>T	c.(4450-4452)ctC>ctT	p.L1484L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1484					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGCGTTCTTGAGTTTGAAGA	0.592000													18	158					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149498364	149498364	+	Silent	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr5:149498364G>T	ENST00000261799.4	-	21	3319	c.2850C>A	c.(2848-2850)ccC>ccA	p.P950P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	950	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGGGAGAAGGGGGGCCGAA	0.577000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								20	139					5.35356e-11	7.12602e-11	1	1	0
ALPI	248	broad.mit.edu	37	2	233323439	233323439	+	Silent	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:233323439C>T	ENST00000295463.3	+	10	1358	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	427					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGCGACCAGACGTGAATGAGA	0.662000													9	53					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56196383	56196383	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr18:56196383T>A	ENST00000361673.3	-	6	5654	c.5441A>T	c.(5440-5442)cAt>cTt	p.H1814L		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1814	Ig-like 2.			H -> R (in Ref. 1; BX647796).			ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAATCTTCATGAATTTCTGC	0.393000													18	98					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049593	11049593	+	RNA	SNP	G	G	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr21:11049593G>C	ENST00000470054.1	-	0	515									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)		CCGGGCTGTCGCACACTGCAC	0.383000													4	177					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1206787	1206787	+	Silent	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr4:1206787G>A	ENST00000382952.3	-	9	1404	c.1020C>T	c.(1018-1020)gtC>gtT	p.V340V	CTBP1_ENST00000290921.6_Silent_p.V351V	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	351	Interaction with GLIS2 2 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGTCCTTGTTGACACAGTTCT	0.652000													8	96					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944458	40944458	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr20:40944458C>A	ENST00000373198.3	-	12	2279	c.2044G>T	c.(2044-2046)Ggt>Tgt	p.G682C	PTPRT_ENST00000373184.1_Missense_Mutation_p.G682C|PTPRT_ENST00000373190.1_Missense_Mutation_p.G682C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G682C|PTPRT_ENST00000373201.1_Missense_Mutation_p.G682C|PTPRT_ENST00000356100.2_Missense_Mutation_p.G682C|PTPRT_ENST00000373187.1_Missense_Mutation_p.G682C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	682	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTATTGTCACCCACTGTAAAT	0.517000													15	106					2.48551e-13	3.52262e-13	1	1	0
IL18RAP	8807	broad.mit.edu	37	2	103061723	103061723	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:103061723G>C	ENST00000264260.2	+	9	1584	c.995G>C	c.(994-996)cGc>cCc	p.R332P	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190P	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	332	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CGTGATCTTCGCAGGAAGTTT	0.423000													11	42					0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656374	656374	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr6:656374G>C	ENST00000380907.2	-	1	589	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	191										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TCTATACTCAGGGTCATCCTG	0.562000													40	164					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139229864	139229864	+	Silent	SNP	T	T	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr6:139229864T>C	ENST00000450536.2	-	18	2731	c.2157A>G	c.(2155-2157)gaA>gaG	p.E719E	REPS1_ENST00000409812.2_Silent_p.E628E|REPS1_ENST00000258062.5_Silent_p.E718E|REPS1_ENST00000415951.2_Silent_p.E660E|REPS1_ENST00000367663.4_Silent_p.E692E			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	719	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTTGTGTATGTTCATCAACTT	0.398000													13	88					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186081	101186081	+	Silent	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:101186081G>A	ENST00000294728.2	+	2	215	c.114G>A	c.(112-114)caG>caA	p.Q38Q	VCAM1_ENST00000347652.2_Silent_p.Q38Q|VCAM1_ENST00000370115.1_Silent_p.Q38Q|VCAM1_ENST00000370119.4_Silent_p.Q38Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	38	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATCTTGCTCAGATTGGTGACT	0.433000													9	74					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189912942	189912942	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr2:189912942C>A	ENST00000374866.3	-	45	3468	c.3194G>T	c.(3193-3195)gGa>gTa	p.G1065V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1065					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACACGTTCTCCAACAGCACC	0.343000													8	41					0.00448238	0.00472208	1	1	0
HAMP	57817	broad.mit.edu	37	19	35775872	35775872	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:35775872C>A	ENST00000598398.1	+	4	478	c.182C>A	c.(181-183)aCc>aAc	p.T61N	HAMP_ENST00000222304.3_Missense_Mutation_p.T61N	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	61					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGCGAGACACCCACTTCCCC	0.597000													18	185					2.39556e-15	3.52184e-15	1	1	0
TTLL7	79739	broad.mit.edu	37	1	84412840	84412840	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr1:84412840A>G	ENST00000260505.8	-	6	850	c.473T>C	c.(472-474)aTa>aCa	p.I158T	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	158	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGGTTTCACTATAAAAGTTTT	0.328000													11	35					0	0	1	0	0
UNKL	64718	broad.mit.edu	37	16	1453292	1453292	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr16:1453292C>G	ENST00000389221.4	-	3	340	c.341G>C	c.(340-342)cGt>cCt	p.R114P	UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Missense_Mutation_p.R114P|UNKL_ENST00000397462.1_Missense_Mutation_p.R201P|UNKL_ENST00000508903.2_Missense_Mutation_p.R114P	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	114						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TTTGTAGTAACGCAGGTGGTA	0.612000													7	26					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49052739	49052739	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr4:49052739G>A	ENST00000226432.4	+	15	2077	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	CWH43_ENST00000513409.1_Missense_Mutation_p.E605K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	632					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTCCCATGCTGAACTGAGTGA	0.383000													7	78					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64457753	64457753	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:64457753G>C	ENST00000358025.3	+	21	2796	c.2566G>C	c.(2566-2568)Gaa>Caa	p.E856Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E856Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E856Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	856					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCCCAGAAGGAACTTGAATC	0.433000													26	50					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541609	10541609	+	Silent	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr17:10541609C>G	ENST00000583535.1	-	27	3567	c.3480G>C	c.(3478-3480)acG>acC	p.T1160T	MYH3_ENST00000226209.7_Silent_p.T1160T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1160					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCTATCTGCGTGGAGGTGA	0.667000													18	45					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45741641	45741641	+	Silent	SNP	G	G	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr21:45741641G>T	ENST00000403390.1	+	14	1362	c.1362G>T	c.(1360-1362)gtG>gtT	p.V454V	PFKL_ENST00000349048.4_Silent_p.V407V			P17858	K6PL_HUMAN	phosphofructokinase, liver	407					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCCTGAATGTGGGGGCCCCGG	0.642000													4	46					0.00024832	0.000277949	1	1	0
WIPF3	644150	broad.mit.edu	37	7	29918676	29918676	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr7:29918676C>T	ENST00000409290.1	+	3	275	c.275C>T	c.(274-276)gCg>gTg	p.A92V	WIPF3_ENST00000409123.1_Missense_Mutation_p.A92V|WIPF3_ENST00000242140.5_Missense_Mutation_p.A92V	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	92										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						ACACGAGGCGCGAGCACACCT	0.517000													3	10					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45741647	45741647	+	Silent	SNP	C	C	G			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr21:45741647C>G	ENST00000403390.1	+	14	1368	c.1368C>G	c.(1366-1368)gcC>gcG	p.A456A	PFKL_ENST00000349048.4_Silent_p.A409A			P17858	K6PL_HUMAN	phosphofructokinase, liver	409					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ATGTGGGGGCCCCGGCGGCTG	0.642000													5	47					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122437576	122437576	+	Silent	SNP	C	C	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr3:122437576C>A	ENST00000474629.2	+	14	4844	c.4578C>A	c.(4576-4578)tcC>tcA	p.S1526S	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1526	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AACAGGAATCCCGGGCAGATT	0.383000													45	116					2.13384e-23	3.23359e-23	1	1	0
CCNT1	904	broad.mit.edu	37	12	49087591	49087591	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr12:49087591C>T	ENST00000261900.3	-	9	1628	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	469					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGCTTTATCTCCACCTGCCAC	0.443000													23	72					0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3660985	3660985	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:3660985G>A	ENST00000397068.3	-	2	1066	c.674C>T	c.(673-675)cCc>cTc	p.P225L	ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Missense_Mutation_p.P225L	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	225						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCATGGGGGGGAATCAGCAC	0.502000													5	99					0	0	1	0	0
MIR9-2	407047	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581													5	4	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													3	5	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	RNA	DEL	A	A	-	rs112122477		TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr7:149515189delA	ENST00000378016.2	+	0	11577							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCGAGTAACTGCCCCAG	0.667													3	6	---	---	---	---					
TATDN1	83940	broad.mit.edu	37	8	125500846	125500847	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr8:125500846_125500847insA	ENST00000276692.6	-	12	919_920	c.882_883insT	c.(880-885)ttctggfs	p.W295fs	TATDN1_ENST00000519548.1_Frame_Shift_Ins_p.W248fs|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	295						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATATTCCAGGAAAAAATACTT	0.292													7	73	---	---	---	---					
DPF2	5977	broad.mit.edu	37	11	65119159	65119173	+	In_Frame_Del	DEL	TGGAGCTGCCACCTG	TGGAGCTGCCACCTG	-			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr11:65119159_65119173delTGGAGCTGCCACCTG	ENST00000528416.1	+	11	1238_1252	c.1105_1119delTGGAGCTGCCACCTG	c.(1105-1119)del	p.WSCHL369del	DPF2_ENST00000415073.2_In_Frame_Del_p.WSCHL185del|DPF2_ENST00000252268.4_In_Frame_Del_p.WSCHL383del	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	369					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	p.C371S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGCAGGAAGTTGGAGCTGCCACCTGTGTCTGGACC	0.521													8	123	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													2	4	---	---	---	---					
RASAL3	64926	broad.mit.edu	37	19	15572382	15572382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:15572382delG	ENST00000343625.6	-	3	445	c.365delC	c.(364-366)cafs	p.P122fs		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	122	Pro-rich.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						AGGGATCTGTGGGGTAGGGGG	0.617													2	4	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	RNA	DEL	T	T	-	rs113703393		TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													4	6	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													7	104	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47041360	47041364	+	Frame_Shift_Del	DEL	CGTCT	CGTCT	-			TCGA-55-7815-01A-11D-2167-08	TCGA-55-7815-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e4d9dd0-a990-4ec5-841b-7d443b86b059	29aa803b-8c42-444f-8c78-6349908d88e9	g.chrX:47041360_47041364delCGTCT	ENST00000377604.3	+	16	2446_2450	c.1704_1708delCGTCT	c.(1702-1710)gactfs	p.DVS568fs	RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Frame_Shift_Del_p.DVS491fs|RBM10_ENST00000329236.7_Frame_Shift_Del_p.DVS490fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	568	Tyr-rich.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTGTTCCCGACGTCTCTACCTACCA	0.580													15	21	---	---	---	---					
