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
GABRB1	2560	broad.mit.edu	37	4	47427842	47427842	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr4:47427842G>A	ENST00000295454.3	+	9	1524	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R341H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	411					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGAGCAGCCGCGAGGCCTAC	0.662000													3	49					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768395	31768395	+	Silent	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:31768395G>A	ENST00000240587.4	-	2	2631	c.2304C>T	c.(2302-2304)ccC>ccT	p.P768P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	768					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGACTGCAGGGGCGGCGGGG	0.597000													14	46					0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69981294	69981294	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr12:69981294C>A	ENST00000543146.2	+	4	495	c.13C>A	c.(13-15)Ctt>Att	p.L5I	CCT2_ENST00000299300.6_Missense_Mutation_p.L52I|CCT2_ENST00000544368.2_Missense_Mutation_p.L52I	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	52					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGACAAAATTCTTCTAAGCAG	0.378000													5	33					0.184627	0.184627	1	1	0
SPOP	8405	broad.mit.edu	37	17	47696438	47696438	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr17:47696438T>C	ENST00000393331.3	-	7	855	c.385A>G	c.(385-387)Aaa>Gaa	p.K129E	SPOP_ENST00000504102.1_Missense_Mutation_p.K129E|SPOP_ENST00000503676.1_Missense_Mutation_p.K129E|SPOP_ENST00000347630.2_Missense_Mutation_p.K129E|SPOP_ENST00000393328.2_Missense_Mutation_p.K129E	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	129	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.K129E(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCCCAGTCTTTGCCTTGCACA	0.453000										Prostate(2;0.17)			6	134					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686494	5686494	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:5686494T>A	ENST00000305836.5	-	8	1329	c.1027A>T	c.(1027-1029)Aat>Tat	p.N343Y	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.N343Y			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	343	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTACAATAATTGAAATTCACA	0.443000													24	98					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10692007	10692007	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:10692007A>C	ENST00000590923.1	-	6	691	c.608T>G	c.(607-609)tTt>tGt	p.F203C	AP1M2_ENST00000250244.6_Missense_Mutation_p.F203C			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	203	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TCCTGACAGAAACACCTTGAG	0.542000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	37					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9230011	9230011	+	Silent	SNP	T	T	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr12:9230011T>G	ENST00000318602.7	-	27	3589	c.3282A>C	c.(3280-3282)ggA>ggC	p.G1094G		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1094					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CATCTTCTACTCCTCCCTGTG	0.448000													3	9					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502046	12502046	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:12502046C>T	ENST00000419318.1	-	4	1819	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.G389E			Q96GE5	ZN799_HUMAN	zinc finger protein 799	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGGTCCATCTCCAGTGTGCAT	0.423000													5	198					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453545	37453545	+	Silent	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr13:37453545G>A	ENST00000379826.4	-	2	624	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SMAD9_ENST00000350148.5_Silent_p.R94R|SMAD9_ENST00000399275.2_Silent_p.R94R	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	94	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGCGCCACACGCGACAGTAAA	0.632000													4	13					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109742748	109742748	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr1:109742748T>G	ENST00000369939.3	+	20	2879	c.2696T>G	c.(2695-2697)gTc>gGc	p.V899G	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V812G|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	899					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAGCAGAGAGTCACCATCTGC	0.498000													7	69					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119153689	119153689	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr3:119153689G>A	ENST00000319172.5	-	8	1573	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	385						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CTGCTGTGCCGCACCAGCACC	0.438000													4	80					0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111368082	111368082	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:111368082C>G	ENST00000525791.1	-	4	548	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	BTG4_ENST00000356018.2_Missense_Mutation_p.E122Q			Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	122					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TCCCATTCCTCCCATCTGCCT	0.393000													8	49					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1250305	1250305	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr1:1250305T>A	ENST00000540437.1	-	9	1074	c.619A>T	c.(619-621)Atc>Ttc	p.I207F	CPSF3L_ENST00000411962.1_Missense_Mutation_p.I103F|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.I172F|CPSF3L_ENST00000419704.1_Missense_Mutation_p.I100F|CPSF3L_ENST00000450926.2_Missense_Mutation_p.I179F|CPSF3L_ENST00000435064.1_Missense_Mutation_p.I201F|CPSF3L_ENST00000421495.2_5'UTR	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	201						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GACTCTGTGATGAGCAGGTTG	0.632000													6	29					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42428524	42428524	+	Silent	SNP	G	G	A	rs139796679		TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr17:42428524G>A	ENST00000053867.3	+	8	890	c.828G>A	c.(826-828)gcG>gcA	p.A276A	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	276					signal transduction	extracellular space	cytokine activity|growth factor activity	p.A276A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGCTGCCTGCGCACACAGGTA	0.587000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	42					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153216312	153216312	+	Silent	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chrX:153216312C>T	ENST00000310441.7	-	23	6621	c.5655G>A	c.(5653-5655)acG>acA	p.T1885T	HCFC1_ENST00000369984.4_Silent_p.T1930T|HCFC1_ENST00000354233.3_Silent_p.T1816T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1885					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAGGCACGTCTTAAAGG	0.572000													42	57					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134977925	134977925	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr3:134977925G>C	ENST00000398015.3	+	16	3288	c.2918G>C	c.(2917-2919)aGg>aCg	p.R973T	EPHB1_ENST00000493838.1_Missense_Mutation_p.R534T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	973	SAM.		R -> W (in dbSNP:rs1042784).			integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATTCTATGAGGGTCCAGATA	0.502000													3	11					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537426	55537426	+	Silent	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr8:55537426C>T	ENST00000220676.1	+	4	1132	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	328					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAATCAAGACGGCACTATGA	0.323000													3	39					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	rs145514577	byFrequency	TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTGGCCATTCCTGAGGCT	0.493000													4	188					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	870995	870995	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr4:870995C>T	ENST00000314167.4	-	17	1967	c.1856_splice	c.e17-1	p.R619_splice	GAK_ENST00000511163.1_Splice_Site_p.R540_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCTTAAAGTCCCTAAGGACAG	0.443000													11	34					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143599	56143599	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:56143599C>T	ENST00000302270.1	+	1	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TTCCGCCTCTCCTATTGCCAC	0.448000													5	198					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211518758	211518758	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr2:211518758G>A	ENST00000233072.5	+	29	3686	c.3490G>A	c.(3490-3492)Gtg>Atg	p.V1164M	CPS1_ENST00000451903.2_Missense_Mutation_p.V713M|CPS1_ENST00000430249.2_Missense_Mutation_p.V1170M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1164	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGAGCACCCAGTGGTGCTGAC	0.423000													15	73					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	31					0	0	1	0	0
PCDHB6	0	broad.mit.edu	37	5	140530897	140530897	+	Silent	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr5:140530897C>T	ENST00000231136.1	+	1	1059	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	PCDHB6_ENST00000543635.1_Silent_p.L217L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		353	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATCAGCCTCATCCCAGAAA	0.458000													13	47					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295860	10295860	+	Splice_Site	SNP	T	T	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr17:10295860T>C	ENST00000403437.2	-	38	5661	c.5568_splice	c.e38+1	p.Q1856_splice	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1856					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCCTTTACCTGGTAGGTGAG	0.408000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				6	100					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53122295	53122295	+	Silent	SNP	A	A	G	rs11669959	by1000genomes	TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:53122295A>G	ENST00000600714.1	-	4	318	c.36T>C	c.(34-36)gaT>gaC	p.D12D	ZNF83_ENST00000596930.1_Silent_p.D12D|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000597597.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	111						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTATGGCCACATCCCTGAATG	0.433000													4	122					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94089082	94089082	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr14:94089082C>G	ENST00000553484.1	+	31	5723	c.5569C>G	c.(5569-5571)Ccc>Gcc	p.P1857A	UNC79_ENST00000256339.4_Missense_Mutation_p.P1658A|UNC79_ENST00000393151.2_Missense_Mutation_p.P1835A|UNC79_ENST00000555664.1_Missense_Mutation_p.P1835A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1835						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGATTGTTCCCAGGCAGAG	0.463000													6	34					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33411088	33411088	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr6:33411088A>C	ENST00000418600.2	+	15	2860	c.2759A>C	c.(2758-2760)cAa>cCa	p.Q920P	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Q861P|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Q920P	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	920					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCTGCCCAGCAACTGCGAATC	0.677000													13	178					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094161	30094161	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr16:30094161C>T	ENST00000279387.7	+	5	464	c.296C>T	c.(295-297)gCa>gTa	p.A99V	PPP4C_ENST00000561610.1_Missense_Mutation_p.A99V	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	99					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CTGCTGCTGGCACTTAAGGTG	0.617000													3	37					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902691	40902691	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:40902691A>G	ENST00000324001.7	-	7	1838	c.1568T>C	c.(1567-1569)cTg>cCg	p.L523P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	523	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.L523P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGACACTTTCAGCAGCTGTAC	0.567000													5	172					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85472370	85472370	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr6:85472370C>G	ENST00000369663.5	-	2	726	c.389G>C	c.(388-390)gGg>gCg	p.G130A	TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	130					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGAGGGGTCCCGGGCCGGGC	0.697000													6	19					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371016	55371016	+	Silent	SNP	G	G	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:55371016G>T	ENST00000302231.4	-	1	858	c.834C>A	c.(832-834)ccC>ccA	p.P278P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GATTGAGAAAGGGTGTTCCAA	0.393000													16	56					8.00594e-06	8.36176e-06	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64136655	64136655	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr10:64136655C>T	ENST00000395254.3	+	2	983	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	ZNF365_ENST00000395255.3_Missense_Mutation_p.R235C|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.R235C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACTGAGGCAACGCCTGACGGA	0.517000													13	52					0	0	1	0	0
SV2A	0	broad.mit.edu	37	1	149885042	149885042	+	Silent	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr1:149885042C>T	ENST00000369146.3	-	2	841	c.351G>A	c.(349-351)gcG>gcA	p.A117A	SV2A_ENST00000369145.1_Silent_p.A117A	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	117					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGCCAGGGGCGCCCCATCTG	0.637000													13	75					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													5	14					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109874335	109874335	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr12:109874335G>C	ENST00000310903.5	+	22	2241	c.2135G>C	c.(2134-2136)aGa>aCa	p.R712T	MYO1H_ENST00000431443.2_Missense_Mutation_p.R722T			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTAGGAAGGAGAGAATACGTG	0.403000													4	10					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994724	121994724	+	Silent	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr3:121994724G>A	ENST00000498619.1	+	5	1881	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	CASR_ENST00000296154.5_Silent_p.E481E|CASR_ENST00000490131.1_Silent_p.E481E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	481					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTTTGATGAGTGTGGTGACC	0.493000													20	61					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874265	151874265	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr7:151874265G>A	ENST00000355193.2	-	38	8491	c.8273C>T	c.(8272-8274)gCa>gTa	p.A2758V	KMT2C_ENST00000262189.6_Missense_Mutation_p.A2758V					lysine (K)-specific methyltransferase 2C																		ATCTGTATATGCAATGATATC	0.368000													7	94					0	0	1	0	0
RP11-159L20.2	0	broad.mit.edu	37	14	31291081	31291082	+	RNA	INS	-	-	A	rs111525555		TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr14:31291081_31291082insA	ENST00000554665.1	-	0	208																											AAATTAAAAAGAAAAAAAAAAC	0.312													3	6	---	---	---	---					
PTBP1	5725	broad.mit.edu	37	19	808418	808418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:808418delA	ENST00000356948.6	+	12	1635	c.1212delA	c.(1210-1212)ctfs	p.L404fs	PTBP1_ENST00000394601.4_Frame_Shift_Del_p.L397fs|PTBP1_ENST00000349038.4_Frame_Shift_Del_p.L378fs|PTBP1_ENST00000350092.4_Frame_Shift_Del_p.L44fs	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	378	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		AGAACGCCCTAGTGCAGATGG	0.677													2	4	---	---	---	---					
UBA2	10054	broad.mit.edu	37	19	34919386	34919386	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:34919386delG	ENST00000246548.4	+	1	119	c.49delG	c.(49-51)ggfs	p.G18fs		NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	18					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGCGGTGGCCGGGGGCCGGGT	0.741													2	4	---	---	---	---					
TMPRSS2	0	broad.mit.edu	37	21	42843897	42843899	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr21:42843897_42843899delTTG	ENST00000398585.3	-	10	1080_1082	c.1020_1022delCAA	c.(1018-1023)aat>aa	p.NN340del	TMPRSS2_ENST00000458356.1_In_Frame_Del_p.NN303del|TMPRSS2_ENST00000332149.5_In_Frame_Del_p.NN303del	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	303	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ATGCCATGGATTGTTAAGAGGTC	0.443			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								17	61	---	---	---	---