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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PTPRT	11122	broad.mit.edu	37	20	41306544	41306544	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr20:41306544G>T	uc002xkg.3	-	6	1299	c.1115C>A	c.(1114-1116)cCg>cAg	p.P372Q	PTPRT_uc010ggj.3_Missense_Mutation_p.P372Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	372	Fibronectin type-III 1.				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	p.G371V(1)|p.P372T(1)		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)				AGGCCCTGGCGGTCCCGTACC	0.542000														97			37		5.04308e-16	6.02368e-16	0.086207	1	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055735	85055735	+	RNA	SNP	C	T	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr15:85055735C>T	uc002bkm.2	-	5		c.825G>A								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CACAGCCTCTCCTCATGTTCA	0.547000														14			6		0	0	0.047766	0	0
MTOR	2475	broad.mit.edu	37	1	11184573	11184573	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:11184573G>T	uc001asd.3	-	46	6765	c.6644C>A	c.(6643-6645)tCt>tAt	p.S2215Y	MTOR_uc001asc.3_Missense_Mutation_p.S420Y	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2215	PI3K/PI4K.		S -> Y (in a colorectal adenocarcinoma sample; somatic mutation).		T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.S2215Y(8)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTTCCGAAGAGATGTTGGGTC	0.438000														40			20		6.33239e-15	7.35926e-15	0.055883	1	0
MYT1	4661	broad.mit.edu	37	20	62851191	62851191	+	Silent	SNP	C	T	T	rs117853857	by1000genomes	TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr20:62851191C>T	uc002yii.3	+	12	2461	c.2097C>T	c.(2095-2097)gaC>gaT	p.D699D	MYT1_uc002yih.3_Silent_p.D401D|MYT1_uc002yij.3_Silent_p.D358D	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	699	Ser-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGTCTCCCGACGCCTCCCAGC	0.657000														14			4		0	0	0.014758	0	0
TMEM205	374882	broad.mit.edu	37	19	11453637	11453637	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:11453637G>T	uc002mra.2	-	3	731	c.424C>A	c.(424-426)Cag>Aag	p.Q142K	TMEM205_uc002mrb.2_Missense_Mutation_p.Q142K|TMEM205_uc002mqz.2_Missense_Mutation_p.Q142K	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	142						integral to membrane				endometrium(1)|lung(1)	2						TCTCGCAGCTGGCGGTAGGGA	0.627000														87			41		1.15183e-24	1.41511e-24	0.111260	1	0
C10orf137	26098	broad.mit.edu	37	10	127442312	127442312	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr10:127442312A>G	uc001liq.1	+	23	3736	c.3443A>G	c.(3442-3444)aAt>aGt	p.N1148S	C10orf137_uc001lip.1_Missense_Mutation_p.N852S|C10orf137_uc001lio.1_Missense_Mutation_p.N1114S|C10orf137_uc001lis.1_Missense_Mutation_p.N474S|C10orf137_uc001lit.1_Missense_Mutation_p.N58S	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	1148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCTAGTCTCAATCGAGAAGAA	0.393000														70			37		0	0	0.080422	0	0
ITGA2	3673	broad.mit.edu	37	5	52366069	52366069	+	Silent	SNP	C	G	G	rs142557473		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:52366069C>G	uc003joy.3	+	16	2357	c.2214C>G	c.(2212-2214)ccC>ccG	p.P738P	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.P662P|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	738					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGAGTTGCCCCGAGCACATCA	0.398000														69			25		0	0	0.030593	0	0
ABCC3	8714	broad.mit.edu	37	17	48734448	48734448	+	Silent	SNP	C	T	T	rs139452504	by1000genomes	TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr17:48734448C>T	uc002isl.3	+	3	470	c.390C>T	c.(388-390)ggC>ggT	p.G130G	ABCC3_uc002isk.4_Silent_p.G130G	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	130					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGCTGCAGGGCGTACAGTCTT	0.587000														88			26		0	0	0.091800	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129235	99129235	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:99129235G>A	uc003uqv.3	+	6	2007	c.1883G>A	c.(1882-1884)aGt>aAt	p.S628N	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.S628N|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.S628N|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.S555N|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.S364N	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	628					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCGTGCACAGTGGGGAGAGA	0.557000														71			4		0	0	0.014758	0	0
CPA6	57094	broad.mit.edu	37	8	68397000	68397000	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr8:68397000G>A	uc003xxq.4	-	6	917	c.661C>T	c.(661-663)Cca>Tca	p.P221S	CPA6_uc003xxr.4_Missense_Mutation_p.P73S|CPA6_uc003xxs.2_Missense_Mutation_p.P221S	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	221					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTCATGGCTGGGTCACTCTTA	0.353000														51			19		0	0	0.049695	0	0
DHRS9	10170	broad.mit.edu	37	2	169938176	169938176	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr2:169938176G>A	uc010zdc.2	+	1	377	c.265G>A	c.(265-267)Gat>Aat	p.D89N	DHRS9_uc002uep.3_Missense_Mutation_p.D29N|DHRS9_uc002ueq.3_Missense_Mutation_p.D29N|DHRS9_uc002uer.1_Missense_Mutation_p.D29N|DHRS9_uc010zdd.2_Missense_Mutation_p.D29N|DHRS9_uc010zde.2_Missense_Mutation_p.D29N	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	29					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGACATCACTGATAAGTACAT	0.428000														107			7		0	0	0.029380	0	0
TRIM33	51592	broad.mit.edu	37	1	114948195	114948195	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:114948195G>A	uc001eew.3	-	14	2689	c.2605C>T	c.(2605-2607)Cac>Tac	p.H869Y	TRIM33_uc010owr.2_Missense_Mutation_p.H483Y|TRIM33_uc010ows.2_Missense_Mutation_p.H501Y|TRIM33_uc001eex.3_Missense_Mutation_p.H869Y|TRIM33_uc001eey.1_Missense_Mutation_p.H64Y	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	869					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCGACCTGTGCATGAGGCTT	0.468000			T	RET	papillary thyroid									149			59		0	0	0.048971	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416056	5416056	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr18:5416056T>A	uc002kmt.1	-	12	1914	c.1828A>T	c.(1828-1830)Aac>Tac	p.N610Y	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	610	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.N610S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAGAAAGGTTGGGGAAAGAG	0.532000														89			34		0	0	0.059317	0	0
VGF	7425	broad.mit.edu	37	7	100806695	100806695	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:100806695T>A	uc003uxx.4	-	1	1648	c.1430A>T	c.(1429-1431)gAg>gTg	p.E477V	VGF_uc022aiz.1_Missense_Mutation_p.E477V	NM_003378	NP_003369	O15240	VGF_HUMAN	Homo sapiens VGF nerve growth factor inducible (VGF), mRNA.	477					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGCTTCTCCTCCACCTCCTC	0.697000														31			12		0	0	0.020292	0	0
SLC6A8	6535	broad.mit.edu	37	X	152960547	152960547	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:152960547C>T	uc004fib.3	+	12	2064	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	SLC6A8_uc004fic.3_Nonsense_Mutation_p.Q586*|SLC6A8_uc011myx.1_Nonsense_Mutation_p.Q481*|SLC6A8_uc010nuj.2_Non-coding_Transcript	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	596					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCACCTGACCCAGCCCATCTG	0.652000														15			3		0	0	0.004672	0	0
ZNF488	118738	broad.mit.edu	37	10	48371023	48371023	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr10:48371023G>T	uc001jex.3	+	1	653	c.491G>T	c.(490-492)aGc>aTc	p.S164I	ZNF488_uc021ppx.1_Missense_Mutation_p.S164I	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGCGCCTTTAGCAAACCAACC	0.597000														72			4		1.23904e-05	1.33197e-05	0.014758	1	0
ISOC2	79763	broad.mit.edu	37	19	55966664	55966664	+	Nonsense_Mutation	SNP	G	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:55966664G>A	uc002qla.3	-	3	604	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	ISOC2_uc002qlb.3_Nonsense_Mutation_p.Q128*|ISOC2_uc002qlc.3_Nonsense_Mutation_p.Q58*	NM_024710	NP_078986	Q96AB3	ISOC2_HUMAN	Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	128					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		ACATGGACCTGCAGCCCCCGG	0.662000														19			5		0	0	0.014758	0	0
DOCK2	1794	broad.mit.edu	37	5	169446069	169446069	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:169446069A>G	uc003maf.3	+	32	3418	c.3338A>G	c.(3337-3339)gAc>gGc	p.D1113G	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.D605G	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1113	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.D1113D(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTCTTCGACATGATGCTG	0.463000														200			61		0	0	0.048971	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944905	47944905	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:47944905T>A	uc003tny.2	-	10	1574	c.1540A>T	c.(1540-1542)Aat>Tat	p.N514Y		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	514	PKD 1.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTTCCATTTGTGTAGACA	0.443000														104			33		0	0	0.050027	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74883496	74883496	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr11:74883496G>C	uc001owb.3	+	6	1249	c.854G>C	c.(853-855)gGt>gCt	p.G285A	SLCO2B1_uc010rrq.2_Missense_Mutation_p.G30A|SLCO2B1_uc010rrr.2_Missense_Mutation_p.G141A|SLCO2B1_uc010rrs.2_Missense_Mutation_p.G169A|SLCO2B1_uc001owc.3_Missense_Mutation_p.G58A|SLCO2B1_uc001owd.3_Missense_Mutation_p.G263A	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	285					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.G285S(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ATCGCTGCCGGTGCAGTGGCC	0.557000														65			27		0	0	0.108266	0	0
EPX	8288	broad.mit.edu	37	17	56281634	56281634	+	Silent	SNP	G	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr17:56281634G>A	uc002ivq.3	+	11	2117	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	666					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCAAGGCCCTGAGCAGAATTT	0.502000														62			27		0	0	0.045705	0	0
CCDC57	284001	broad.mit.edu	37	17	80129603	80129603	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr17:80129603C>G	uc002kdx.1	-	11	1893	c.1856G>C	c.(1855-1857)aGc>aCc	p.S619T	CCDC57_uc010dik.1_Missense_Mutation_p.S127T|CCDC57_uc002kdz.1_Missense_Mutation_p.S619T	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	619										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGTGCGGACGCTGGGCTGAGA	0.478000														60			14		0	0	0.020292	0	0
ATP6AP1	537	broad.mit.edu	37	X	153657422	153657422	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:153657422C>A	uc004flf.1	+	1	251	c.190C>A	c.(190-192)Cat>Aat	p.H64N	BC009467_uc004fld.4_5'Flank|ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.H24N	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	64					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCGACACTCATGAAGGCCA	0.617000														85			29		3.1745e-13	3.59219e-13	0.037714	1	0
GTSF1	121355	broad.mit.edu	37	12	54857070	54857070	+	Silent	SNP	A	G	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr12:54857070A>G	uc001sgb.3	-	3	215	c.129T>C	c.(127-129)gaT>gaC	p.D43D		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	43							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TGCTTGCAACATCAGGATGAT	0.433000														55			22		0	0	0.091800	0	0
COCH	1690	broad.mit.edu	37	14	31353851	31353851	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr14:31353851A>C	uc001wqr.2	+	8	802	c.722A>C	c.(721-723)aAt>aCt	p.N241T	COCH_uc001wqp.2_Missense_Mutation_p.N241T|COCH_uc001wqq.4_Missense_Mutation_p.N241T|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.N48T	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	241	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AGAGGGGGTAATTCCAATACA	0.358000														43			15		0	0	0.033300	0	0
PGAP1	80055	broad.mit.edu	37	2	197781305	197781305	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr2:197781305C>A	uc002utw.3	-	2	428	c.314G>T	c.(313-315)gGc>gTc	p.G105V	PGAP1_uc002utx.3_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.G105V|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	105					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TGCAATGGAGCCAATAGAACG	0.368000														35			9		0.00448238	0.00470103	0.047766	1	0
HEATR8	374977	broad.mit.edu	37	1	55118778	55118778	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:55118778A>C	uc010ooe.1	+	2	503	c.179A>C	c.(178-180)gAt>gCt	p.D60A	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.D60A|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.D60A|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	60						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTCGTTCCAGATCTTAATGAT	0.567000														89			40		0	0	0.104719	0	0
MYH6	4624	broad.mit.edu	37	14	23859655	23859655	+	Splice_Site	SNP	C	G	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr14:23859655C>G	uc001wjv.3	-	26	3414	c.3343_splice	c.e26-1	p.A1115_splice	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1115					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		tcGATGCGTGCCTGGGTCAGA	0.627000														24			14		0	0	0.105934	0	0
KIR3DL3	115653	broad.mit.edu	37	GL000209.1	19417	19417	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrGL000209.1:19417A>T	uc010euy.2	+	7	1183	c.1178A>T	c.(1177-1179)aAa>aTa	p.K393I	KIR2DL2_uc002qts.2_5'Flank|KIR2DL2_uc002qtt.2_5'Flank	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	393						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ACACAGAGAAAAATCACTCGC	0.512000														183			8		0	0	0.038147	0	0
MBNL3	55796	broad.mit.edu	37	X	131540269	131540269	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:131540269T>A	uc004ewv.4	-	1	1032	c.329A>T	c.(328-330)cAa>cTa	p.Q110L	AK095439_uc004ewr.1_Intron|MBNL3_uc004eww.3_Missense_Mutation_p.Q14L|MBNL3_uc010nrl.1_Non-coding_Transcript|MBNL3_uc004ewt.3_Missense_Mutation_p.Q60L|MBNL3_uc004ewx.2_Missense_Mutation_p.Q60L|MBNL3_uc011muz.2_Missense_Mutation_p.Q14L|MBNL3_uc004ewu.4_Missense_Mutation_p.Q110L	NM_018388	NP_001164175	Q9NUK0	MBNL3_HUMAN	Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA.	110					RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TGATGACATTTGAGCGTTTTG	0.453000														106			50		0	0	0.048971	0	0
BC080605	0	broad.mit.edu	37	9	68413569	68413569	+	RNA	SNP	C	T	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr9:68413569C>T	uc004aex.3	+	0		c.124C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCCCCAGTGGCGCCGGATCTA	0.602000														1			2		0	0	0.004672	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307713	140307713	+	Silent	SNP	A	G	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:140307713A>G	uc003lih.2	+	0	1412	c.1236A>G	c.(1234-1236)caA>caG	p.Q412Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.Q412Q	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	436	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATACCAAGTCCTGATCA	0.517000														64			19		0	0	0.049695	0	0
APOB	338	broad.mit.edu	37	2	21224920	21224921	+	Frame_Shift_Ins	INS	-	G	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr2:21224920_21224921insG	uc002red.3	-	28	13501_13502	c.13373_13374insC	c.(13372-13374)ccafs	p.P4458fs		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4458					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTTTCCATCTGGATCGGTAAG	0.396													---	80	---	---	33	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	-	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr3:184039744_184039746delGAA	uc003fnp.3	+	9	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_uc003fno.2_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.3_In_Frame_Del_p.E472del|EIF4G1_uc003fnt.3_In_Frame_Del_p.E176del|EIF4G1_uc010hxy.3_In_Frame_Del_p.E472del|EIF4G1_uc003fnq.3_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.3_In_Frame_Del_p.E301del|EIF4G1_uc003fns.3_In_Frame_Del_p.E425del|EIF4G1_uc003fnv.4_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.3_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.3_In_Frame_Del_p.E269del	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	465	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562													---	140	---	---	9	---					
POLR2B	5431	broad.mit.edu	37	4	57888371	57888373	+	In_Frame_Del	DEL	AAG	-	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr4:57888371_57888373delAAG	uc003hcl.1	+	17	2517_2519	c.2474_2476delAAG	c.(2473-2478)caagaa>caa	p.E827del	POLR2B_uc011cae.1_In_Frame_Del_p.E820del|POLR2B_uc011caf.1_In_Frame_Del_p.E752del|POLR2B_uc003hcm.1_In_Frame_Del_p.E320del	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	827					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGATTTGATCAAGAAGAAGTTTT	0.340													---	68	---	---	13	---					
CMYA5	202333	broad.mit.edu	37	5	79034426	79034426	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:79034426delG	uc003kgc.3	+	1	9910	c.9838delG	c.(9838-9840)gggfs	p.G3280fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3280						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCTGCAGAAGGGGAAATTTG	0.453													---	120	---	---	25	---					
LOC554223	554223	broad.mit.edu	37	6	29760353	29760373	+	In_Frame_Del	DEL	GCGGGCGCCGTGGATGGAGCA	-	-	rs74661005	by1000genomes	TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	uc003nnt.3	+	1	540_560	c.438_458delGCGGGCGCCGTGGATGGAGCA	c.(436-459)ccgcgggcgccgtggatggagcag>ccg	p.RAPWMEQ147del	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_In_Frame_Del_p.AGAVDGA111del	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	147					antigen processing and presentation|immune response	MHC class I protein complex											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													---	5	---	---	3	---					
SSPO	23145	broad.mit.edu	37	7	149512845	149512846	+	Frame_Shift_Ins	INS	-	AGGTGGTC	AGGTGGTC	rs146626309	by1000genomes	TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:149512845_149512846insAGGTGGTC	uc010lpk.3	+	75	10843_10844	c.10843_10844insAGGTGGTC	c.(10843-10845)gagfs	p.E3615fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3618					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAACCCGGAGAGGTGGTCACT	0.653													---	5	---	---	3	---					
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	-	-	rs142692092	by1000genomes	TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	uc001say.3	-	0	462_479	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	132	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633													---	7	---	---	4	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	-	-	rs3832971		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr14:71275774_71275776delCCT	uc001xmm.3	-	0	113_115	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_uc001xml.3_In_Frame_Del_p.E38del	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	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(2)		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													---	4	---	---	3	---					
TUBGCP5	114791	broad.mit.edu	37	15	22872435	22872444	+	Frame_Shift_Del	DEL	AAACTGCCAT	-	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr15:22872435_22872444delAAACTGCCAT	uc001yuq.2	+	21	3094_3103	c.2964_2973delAAACTGCCAT	c.(2962-2973)aaaaactgccatfs	p.K988fs	TUBGCP5_uc001yur.4_Frame_Shift_Del_p.K988fs	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	988					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTGATTTTAAAAACTGCCATATGTTTCTTG	0.324													---	112	---	---	9	---					
SPAG9	9043	broad.mit.edu	37	17	49063070	49063071	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr17:49063070_49063071delAA	uc002itc.3	-	22	3217_3218	c.3008_3009delTT	c.(3007-3009)attfs	p.I1003fs	SPAG9_uc002itd.3_Frame_Shift_Del_p.I993fs|SPAG9_uc002itb.3_Frame_Shift_Del_p.I989fs|SPAG9_uc002ita.3_Frame_Shift_Del_p.I846fs	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	1003					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAATACTGAGAATCGAATCTTT	0.322													---	28	---	---	8	---					
RGAG1	57529	broad.mit.edu	37	X	109695056	109695056	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:109695056delG	uc004eor.2	+	2	1457	c.1211delG	c.(1210-1212)agafs	p.R404fs	RGAG1_uc011msr.1_Frame_Shift_Del_p.R404fs	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	404										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCACCAGTAAGAGCTTTAGAT	0.502													---	480	---	---	185	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	-	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:152087570_152087572delGAG	uc011myg.2	+	6	523_525	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_uc011myi.2_In_Frame_Del_p.E165del|ZNF185_uc011myj.2_In_Frame_Del_p.E165del|ZNF185_uc011myh.2_In_Frame_Del_p.E165del|ZNF185_uc011myk.2_In_Frame_Del_p.E165del|ZNF185_uc010ntv.2_In_Frame_Del_p.E165del|ZNF185_uc004fgw.4_In_Frame_Del_p.E30del|ZNF185_uc004fgu.3_5'UTR|ZNF185_uc004fgv.3_5'Flank	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													---	50	---	---	7	---					
