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
WDR70	55100	broad.mit.edu	37	5	37721279	37721279	+	Silent	SNP	A	G	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:37721279A>G	uc003jkv.3	+	13	1537	c.1479A>G	c.(1477-1479)ggA>ggG	p.G493G		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	493										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGAAATGGATTGGCTAAAG	0.468000														66			32		0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78449421	78449421	+	Missense_Mutation	SNP	A	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:78449421A>C	uc002jyp.1	-	1	700	c.542T>G	c.(541-543)gTg>gGg	p.V181G		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	181					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CAGGGTGTTCACCCGGGACAG	0.632000														12			4		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103006273	103006273	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:103006273A>T	uc001phn.1	+	15	2399	c.2255A>T	c.(2254-2256)cAa>cTa	p.Q752L	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.Q752L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	752	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGAATCATCAACTGTACAAA	0.348000														294			5		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6732196	6732196	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:6732196T>C	uc003sqt.1	-	4	931	c.377A>G	c.(376-378)aAc>aGc	p.N126S	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Intron	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	126					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AGGAACAGGGTTCGTTTCTAC	0.373000														210			7		0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	33989302	33989302	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:33989302G>C	uc003jij.3	-	4	1141	c.1045C>G	c.(1045-1047)Cac>Gac	p.H349D	AMACR_uc003jig.3_Missense_Mutation_p.H349D|AMACR_uc003jih.3_3'UTR	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	349					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TCCTCAGTGTGTTCTCCTATG	0.448000														152			4		0	0	1	0	0
IL17RB	55540	broad.mit.edu	37	3	53886982	53886982	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr3:53886982A>G	uc003dha.3	+	4	478	c.439A>G	c.(439-441)Aat>Gat	p.N147D		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	147					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGCAAATATGAATGAAGATGG	0.418000														183			4		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28611062	28611062	+	Silent	SNP	C	A	A			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr18:28611062C>A	uc002kwj.4	-	2	386	c.231G>T	c.(229-231)ggG>ggT	p.G77G	DSC3_uc002kwi.4_Silent_p.G77G	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	77					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTACACTGACCCATCATTTA	0.418000														17			72		1.91123e-38	1.91123e-38	1	1	0
ADCY2	108	broad.mit.edu	37	5	7707862	7707862	+	Missense_Mutation	SNP	G	A	A	rs140842335	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:7707862G>A	uc003jdz.1	+	8	1379	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	ADCY2_uc011cmo.1_Missense_Mutation_p.A258T	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	438					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTTGAATGGCGCTTATAAAGT	0.413000														206			9		0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87006732	87006732	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:87006732C>T	uc003uiu.3	+	10	1273	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	CROT_uc003uit.3_Missense_Mutation_p.S315F	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	315					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.D343H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AACTTGATTTCCTTTTCTAAT	0.294000														62			11		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89421386	89421386	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr15:89421386A>G	uc002bnd.3	-	5	1165	c.1084T>C	c.(1084-1086)Ttt>Ctt	p.F362L	HAPLN3_uc002bnc.3_Missense_Mutation_p.F300L|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	300					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGGCGGCAAAGAGCTGTCCC	0.627000														110			4		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651412	1651412	+	Silent	SNP	G	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:1651412G>C	uc001lty.3	+	0	380	c.342G>C	c.(340-342)ggG>ggC	p.G114G	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	114	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament		p.G114G(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTGTGGGGGGTCCAAGGGGG	0.706000														38			4		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657079	81657079	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr12:81657079A>G	uc001szo.2	-	30	3804	c.3643T>C	c.(3643-3645)Tca>Cca	p.S1215P	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.S1114P|PPFIA2_uc021rbh.1_Missense_Mutation_p.S1110P|PPFIA2_uc021rbi.1_Missense_Mutation_p.S1209P|PPFIA2_uc021rbj.1_Missense_Mutation_p.S1194P|PPFIA2_uc021rbk.1_Missense_Mutation_p.S1200P|PPFIA2_uc021rbl.1_Missense_Mutation_p.S1215P|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.S751P|PPFIA2_uc021rbf.1_Missense_Mutation_p.S401P	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1115										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AATGTTTCTGAGGACCCAGGC	0.458000														134			5		0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148594863	148594863	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr4:148594863A>T	uc003ilc.3	-	2	643	c.501T>A	c.(499-501)aaT>aaA	p.N167K	PRMT10_uc003ild.3_Missense_Mutation_p.N54K	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	167						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GGATTGCTGCATTATAAATTG	0.393000														119			86		0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78277251	78277251	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:78277251C>T	uc001ozi.3	-	3	816	c.440G>A	c.(439-441)tGt>tAt	p.C147Y	NARS2_uc010rsq.2_5'UTR	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	147					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding	p.R146K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GTTAGTCCTACACCTAAAGTG	0.398000														28			27		0	0	1	0	0
ATXN1L	342371	broad.mit.edu	37	16	71885173	71885173	+	Silent	SNP	C	T	T	rs149640121	by1000genomes	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr16:71885173C>T	uc021tla.1	+	0	1530	c.1530C>T	c.(1528-1530)gtC>gtT	p.V510V	ATXN1L_uc002fbd.2_Silent_p.V510V|ATXN1L_uc010vmi.1_Intron	NM_001137675	NP_001131147	P0C7T5	ATX1L_HUMAN	Homo sapiens ataxin 1-like (ATXN1L), transcript variant 1, mRNA.	510	AXH.					dendrite|nucleus	binding			central_nervous_system(1)|endometrium(3)	4						CTAGCACGGTCGTGGACATTC	0.582000														35			3		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117585	117585	+	RNA	SNP	C	T	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrGL000205.1:117585C>T	uc002kgk.4	+	0		c.963C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGACAGCCGACTCCACCACCG	0.617000														21			4		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511773	169511773	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:169511773A>G	uc001ggg.1	-	12	2700	c.2555T>C	c.(2554-2556)cTt>cCt	p.L852P		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	852	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCAGCACCAAGTGAAAGTAG	0.448000														191			4		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84811142	84811142	+	Missense_Mutation	SNP	A	G	G	rs146616208		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:84811142A>G	uc010fgb.3	+	14	2386	c.2249A>G	c.(2248-2250)gAg>gGg	p.E750G	DNAH6_uc002soo.3_Missense_Mutation_p.E329G|DNAH6_uc002sop.3_Missense_Mutation_p.E329G	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	750	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTGAAGATGAGGGGAATATA	0.383000														113			4		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841678	154841678	+	Missense_Mutation	SNP	A	G	G	rs35646025		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:154841678A>G	uc021pah.1	-	0	1077	c.763T>C	c.(763-765)Ttc>Ctc	p.F255L	KCNN3_uc001ffp.3_Missense_Mutation_p.F255L|KCNN3_uc009wox.1_Missense_Mutation_p.F255L	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	260						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCTTTGGGGAAGGTGGTGCTG	0.567000														113			4		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40674	40674	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrGL000218.1:40674C>T	uc011mfn.2	-	2	345	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	LOC100233156_uc003jah.2_Missense_Mutation_p.V86M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TTGTGCCGCACGTCCTCCAGT	0.667000														40			3		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106846591	106846591	+	Silent	SNP	C	A	A			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrX:106846591C>A	uc022cce.1	+	0	2957	c.2589C>A	c.(2587-2589)acC>acA	p.T863T				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1807						cytoskeleton		p.D863E(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCTTAAAAACCCTTATTAAGT	0.562000														41			100		6.25226e-48	6.45394e-48	1	1	0
SLC4A2	6522	broad.mit.edu	37	7	150763999	150763999	+	Silent	SNP	T	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:150763999T>C	uc022apz.1	+	6	1925	c.885T>C	c.(883-885)ggT>ggC	p.G295G	SLC4A2_uc003wit.4_Silent_p.G295G|SLC4A2_uc011kve.2_Silent_p.G286G|SLC4A2_uc003wiu.4_Silent_p.G281G	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	295	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGCCAAAGGTTCCACACAGA	0.657000														135			4		0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53879127	53879127	+	Silent	SNP	T	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:53879127T>C	uc010eqn.3	+	2	205	c.12T>C	c.(10-12)aaT>aaC	p.N4N	ZNF525_uc002qbl.2_Non-coding_Transcript|ZNF765_uc010ydx.2_5'UTR					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						TGCTGGAGAATTATAGGAACC	0.458000														56			5		0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159023498	159023498	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:159023498T>C	uc001ftg.3	+	9	2383	c.2093T>C	c.(2092-2094)aTt>aCt	p.I698T	IFI16_uc010pis.2_Missense_Mutation_p.I698T|IFI16_uc010pit.2_Missense_Mutation_p.I698T	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	754	HIN-200 2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGATCTGTAATTCATAGTCAC	0.393000														27			3		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124089710	124089710	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr9:124089710T>C	uc004blf.1	+	12	1926	c.1865T>C	c.(1864-1866)cTc>cCc	p.L622P	GSN_uc004bld.1_Missense_Mutation_p.L571P|GSN_uc010mvr.1_Missense_Mutation_p.L582P|GSN_uc010mvq.1_Missense_Mutation_p.L582P|GSN_uc010mvu.1_Missense_Mutation_p.L571P|GSN_uc010mvt.1_Missense_Mutation_p.L571P|GSN_uc010mvs.1_Missense_Mutation_p.L571P|GSN_uc004ble.1_Missense_Mutation_p.L571P|GSN_uc010mvv.1_Missense_Mutation_p.L571P|GSN_uc011lyh.1_Missense_Mutation_p.L588P|GSN_uc011lyi.1_Missense_Mutation_p.L571P|GSN_uc011lyj.1_Missense_Mutation_p.L595P|GSN_uc004blg.1_Missense_Mutation_p.L353P	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	622	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGGAGCTGCTCAGGGTGCTG	0.642000														33			24		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184002787	184002787	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr3:184002787T>C	uc003fni.4	+	8	1434	c.1396T>C	c.(1396-1398)Tct>Cct	p.S466P	ECE2_uc011brh.1_Missense_Mutation_p.S319P|ECE2_uc003fnl.4_Missense_Mutation_p.S394P|ECE2_uc003fnm.4_Missense_Mutation_p.S348P|ECE2_uc003fnk.4_Missense_Mutation_p.S319P|ECE2_uc011bri.1_Missense_Mutation_p.S381P|ECE2_uc010hxv.3_Missense_Mutation_p.S110P	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	466	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAGTTCCTGTCTTTCTTGCT	0.547000											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166			5		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007311	6007311	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:6007311G>A	uc001mcd.2	-	0	905	c.850C>T	c.(850-852)Cat>Tat	p.H284Y		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTACATGATGACCAAAGCGG	0.493000														114			7		0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038180	139038180	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrX:139038180C>T	uc004fbb.3	-	2	983	c.961G>A	c.(961-963)Ggt>Agt	p.G321S		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	321						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACATGATCACCGTATGCATTG	0.388000														164			4		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887260	7887260	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:7887260C>G	uc001aop.3	+	16	2495	c.2271C>G	c.(2269-2271)gaC>gaG	p.D757E	PER3_uc009vmg.1_Missense_Mutation_p.D757E|PER3_uc009vmh.1_Missense_Mutation_p.D750E|PER3_uc001aoo.3_Missense_Mutation_p.D749E|PER3_uc010nzw.2_Missense_Mutation_p.D438E	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCGCCAGACAGCAGCAGCT	0.652000														9			15		0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70641632	70641632	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:70641632A>T	uc001der.2	-	6	976	c.838T>A	c.(838-840)Tta>Ata	p.L280I		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	280										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCTGCCTCTAACATTTCAATC	0.318000														102			4		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695452	247695452	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:247695452T>C	uc021pmb.1	-	0	362	c.362A>G	c.(361-363)tAt>tGt	p.Y121C	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.Y121C	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTAGCGGTCATAGGACATGGT	0.562000														17			47		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39867902	39867902	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr6:39867902T>C	uc003oow.3	+	22	2868	c.2729T>C	c.(2728-2730)gTc>gCc	p.V910A	DAAM2_uc003oox.3_Missense_Mutation_p.V909A	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	910	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACAAGTTTGTCCCTGTCATG	0.582000														12			26		0	0	1	0	0
SLC35F5	80255	broad.mit.edu	37	2	114508020	114508020	+	Frame_Shift_Del	DEL	G	-	-	rs60727155	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:114508020delG	uc002tku.1	-	3	813	c.399delC	c.(397-399)cgcfs	p.R133fs	SLC35F5_uc002tkt.3_Non-coding_Transcript|SLC35F5_uc002tkv.3_Frame_Shift_Del_p.R127fs	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	133					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CATGCTTTCCGCGAAGTCCTC	0.348													---	101	---	---	7	---					
CTAGE15P	441294	broad.mit.edu	37	7	143268925	143268926	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:143268925_143268926insC	uc011kth.2	+	0	36_37	c.15_16insC	c.(13-18)ggtgctfs	p.G5fs		NM_001008747	NP_001008747	A4D2H0	A4D2H0_HUMAN	Homo sapiens CTAGE family, member 15, pseudogene (CTAGE15P), mRNA.	5																	AGGAGCCCGGTGCTACCCCTCA	0.594													---	4	---	---	2	---					
PTEN	5728	broad.mit.edu	37	10	89711960	89711962	+	In_Frame_Del	DEL	TGT	-	-			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr10:89711960_89711962delTGT	uc001kfb.3	+	5	1610_1612	c.578_580delTGT	c.(577-582)ctgttg>ctg	p.193_194LL>L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	193	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L193P(2)|p.L193del(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.V191fs*7(1)|p.A192fs*7(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAGTGGCACTGTTGTTTCACAA	0.399		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	14	---	---	34	---					
ZZEF1	23140	broad.mit.edu	37	17	4046184	4046184	+	Frame_Shift_Del	DEL	C	-	-			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:4046184delC	uc002fxe.3	-	0	70	c.6delG	c.(4-6)gggfs	p.G2fs	ZZEF1_uc002fxk.1_Frame_Shift_Del_p.G2fs|CYB5D2_uc002fxm.4_5'Flank|CYB5D2_uc002fxl.4_5'Flank|CYB5D2_uc010cko.3_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCGGAGCGTTCCCCATGGGGT	0.741													---	4	---	---	2	---					
PANX2	56666	broad.mit.edu	37	22	50616699	50616699	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr22:50616699delT	uc003bjn.4	+	1	1558	c.1558delT	c.(1558-1560)tacfs	p.Y520fs	PANX2_uc003bjp.4_Frame_Shift_Del_p.Y386fs|PANX2_uc003bjo.4_Frame_Shift_Del_p.Y520fs	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	520					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGTGCACCCCTACATCCTCGG	0.776													---	4	---	---	2	---					
