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
PTEN	5728	broad.mit.edu	37	10	89711899	89711899	+	Missense_Mutation	SNP	C	T	T	rs121913293		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:89711899C>T	uc001kfb.3	+	5	1549	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.R173C(69)|p.0?(37)|p.R173H(24)|p.R55fs*1(5)|p.?(4)|p.R173fs*10(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173P(1)|p.R173R(1)|p.R172W(1)|p.R172R(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)		CAGTCAGAGGCGCTATGTGTA	0.348000	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)				51			73		0	0	0.014410	0	0
SUPT16H	11198	broad.mit.edu	37	14	21821703	21821703	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:21821703C>T	uc001wao.2	-	24	3281	c.2942G>A	c.(2941-2943)gGt>gAt	p.G981D	SUPT16H_uc001wan.2_Missense_Mutation_p.G125D	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	981	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTCTTCACTACCCAATGACTC	0.373000														108			47		0	0	0.014410	0	0
TRPC7	57113	broad.mit.edu	37	5	135610458	135610458	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:135610458C>T	uc003lbn.2	-	3	1253	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	TRPC7_uc010jef.2_Intron|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.R283H|TRPC7_uc010jei.2_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	344					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R344H(3)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACTGTTGACGTAAGCCTGA	0.438000														20			9		0	0	0.004482	0	0
PCSK2	5126	broad.mit.edu	37	20	17410117	17410117	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:17410117G>A	uc002wpm.3	+	6	1012	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	PCSK2_uc002wpl.3_Missense_Mutation_p.A201T|PCSK2_uc010zrm.2_Missense_Mutation_p.A185T	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	220	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTGCTGCCGCCAACAACAA	0.473000														267			105		0	0	0.014410	0	0
EDNRA	1909	broad.mit.edu	37	4	148407184	148407184	+	Silent	SNP	G	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:148407184G>T	uc003iky.3	+	1	881	c.351G>T	c.(349-351)gcG>gcT	p.A117A	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Silent_p.A117A|EDNRA_uc010ipe.1_Silent_p.A117A|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	117					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GCCCCAACGCGCTGATAGCCA	0.423000														91			70		2.08929e-35	2.36419e-35	0.014410	1	0
LY9	4063	broad.mit.edu	37	1	160783596	160783596	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:160783596G>A	uc001fwu.3	+	2	675	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	LY9_uc010pjs.1_Missense_Mutation_p.V209I|LY9_uc001fwv.3_Missense_Mutation_p.V209I|LY9_uc001fww.3_Missense_Mutation_p.V209I|LY9_uc001fwy.1_Missense_Mutation_p.V111I|LY9_uc001fwz.3_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	209	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTCTTACCGTCTCCCGAAC	0.562000														273			8		0	0	0.003080	0	0
PKHD1	5314	broad.mit.edu	37	6	51613287	51613287	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51613287C>A	uc003pah.1	-	57	9403	c.9127G>T	c.(9127-9129)Gtg>Ttg	p.V3043L	PKHD1_uc010jzn.1_Missense_Mutation_p.V1026L|PKHD1_uc003pai.3_Missense_Mutation_p.V3043L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3043					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGCCAAACACAATATTGTCA	0.493000														45			46		1.76056e-25	1.96634e-25	0.011902	1	0
LAMA1	284217	broad.mit.edu	37	18	6961754	6961754	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr18:6961754A>G	uc002knm.3	-	52	7551	c.7457T>C	c.(7456-7458)aTc>aCc	p.I2486T	LAMA1_uc002knl.3_Intron|LAMA1_uc010wzj.2_Missense_Mutation_p.I1962T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2486	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P2485P(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACTCCGGATGGGCTGGAC	0.517000														27			14		0	0	0.020292	0	0
NF1P2	440225	broad.mit.edu	37	15	21134375	21134375	+	RNA	SNP	G	A	A	rs147626107		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:21134375G>A	uc001ytv.1	-	1		c.131C>T								Homo sapiens neurofibromin 1 pseudogene 2 (NF1P2), non-coding RNA.																		CATAAATGTAGCTGTCTGGAG	0.398000														28			8		0	0	0.010729	0	0
HIF3A	64344	broad.mit.edu	37	19	46800337	46800337	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:46800337G>A	uc002peh.3	+	0	35	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	HIF3A_uc002pef.2_Missense_Mutation_p.A2T|HIF3A_uc002peg.4_Missense_Mutation_p.A2T|HIF3A_uc010xxx.2_5'Flank|HIF3A_uc021uwf.1_5'Flank|HIF3A_uc002pej.2_5'Flank|HIF3A_uc010xxy.2_5'Flank	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCGAGCCATGGCGCTGGGGCT	0.716000														19			12		0	0	0.020292	0	0
ATP8B4	79895	broad.mit.edu	37	15	50288937	50288937	+	Missense_Mutation	SNP	G	A	A	rs116334504	by1000genomes	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:50288937G>A	uc001zxu.3	-	8	668	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	ATP8B4_uc010ber.3_Missense_Mutation_p.R49C|ATP8B4_uc010ufd.2_Missense_Mutation_p.R49C|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	176					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGTGCATGGCGGACTTTTAGG	0.398000														44			22		0	0	0.016522	0	0
C10orf46	143384	broad.mit.edu	37	10	120489879	120489879	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:120489879C>T	uc001lds.1	-	1	895	c.411G>A	c.(409-411)tgG>tgA	p.W137*	C10orf46_uc010qst.1_Non-coding_Transcript	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	Homo sapiens chromosome 10 open reading frame 46 (C10orf46), mRNA.	137					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		CCAATTTTGGCCAGTATGTGC	0.323000														63			3		0	0	0.004672	0	0
SEMA3F	6405	broad.mit.edu	37	3	50225347	50225347	+	Silent	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:50225347C>T	uc003cyj.3	+	18	2355	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	SEMA3F_uc003cyk.3_Silent_p.G688G	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	719					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CACCCCCAGGCGCAGGCCCCC	0.667000														10			10		0	0	0.008291	0	0
COL19A1	1310	broad.mit.edu	37	6	70866054	70866054	+	Silent	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:70866054G>A	uc003pfc.1	+	31	2232	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G	COL19A1_uc010kam.2_Silent_p.G601G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	705	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGTCCCAGGGCTGAAAAGCA	0.473000														48			39		0	0	0.009718	0	0
TRPM6	140803	broad.mit.edu	37	9	77377508	77377508	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:77377508G>T	uc004ajl.1	-	25	4317	c.4079C>A	c.(4078-4080)aCt>aAt	p.T1360N	TRPM6_uc004ajk.1_Missense_Mutation_p.T1355N|TRPM6_uc022bib.1_Missense_Mutation_p.T1355N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.T316N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1360					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGCAAGACAGTTTCTGCTGA	0.507000														160			104		4.80225e-73	5.65745e-73	0.014410	1	0
RFX3	5991	broad.mit.edu	37	9	3270522	3270522	+	Missense_Mutation	SNP	A	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:3270522A>T	uc003zhr.3	-	11	1518	c.1206T>A	c.(1204-1206)aaT>aaA	p.N402K	RFX3_uc010mhd.3_Missense_Mutation_p.N402K|RFX3_uc003zhs.1_Missense_Mutation_p.N402K	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	402					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTCACTCAGATTGCTGGTGT	0.348000														73			3		0	0	0.009096	0	0
ZNF430	80264	broad.mit.edu	37	19	21240178	21240178	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:21240178A>G	uc002npj.3	+	4	1245	c.1064A>G	c.(1063-1065)aAc>aGc	p.N355S	ZNF430_uc002npk.3_Missense_Mutation_p.N354S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N355S(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAGCTTTTAACCAATCCTCA	0.388000														225			4		0	0	0.009096	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030224	10030224	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:10030224G>A	uc002wno.3	+	6	1400	c.1007G>A	c.(1006-1008)cGt>cAt	p.R336H	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.R336H|ANKRD5_uc010gbz.3_Missense_Mutation_p.R147H	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	336	EF-hand.						calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TCCGTAGAACGTGAGGCTTTC	0.512000														99			44		0	0	0.011902	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056044	85056044	+	RNA	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:85056044G>A	uc002bkm.2	-	5		c.516C>T								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CCTGCTGGGGGCTCTGGGGCC	0.532000														19			3		0	0	0.001168	0	0
ADAM28	10863	broad.mit.edu	37	8	24200636	24200636	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24200636T>C	uc003xdy.3	+	16	1936	c.1853T>C	c.(1852-1854)gTg>gCg	p.V618A	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.V305A	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	618	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAGAATGTGTGGATATTGAG	0.383000														90			3		0	0	0.009096	0	0
PHF3	23469	broad.mit.edu	37	6	64422637	64422637	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:64422637T>C	uc003pep.1	+	14	5178	c.5153T>C	c.(5152-5154)gTt>gCt	p.V1718A	PHF3_uc003pen.2_Missense_Mutation_p.V1630A|PHF3_uc011dxs.1_Missense_Mutation_p.V987A	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1718					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AATTTAAAAGTTGCACAAAAC	0.368000														100			3		0	0	0.004672	0	0
FER1L6	654463	broad.mit.edu	37	8	125094698	125094698	+	Splice_Site	SNP	A	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:125094698A>T	uc003yqw.3	+	33	4597	c.4391_splice	c.e33+1	p.I1464_splice	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1464						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAGTATGAGATGTAAGTTCT	0.512000														103			62		0	0	0.014410	0	0
CSPG4	1464	broad.mit.edu	37	15	75981730	75981730	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:75981730T>C	uc002baw.3	-	2	1769	c.1676A>G	c.(1675-1677)cAt>cGt	p.H559R		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	559	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGGCTGCCATGTGGGAAGAT	0.612000														56			3		0	0	0.009096	0	0
abParts	0	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	G	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr22:22661478T>G	uc021wml.1	+	29		c.2287T>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGATGCGTCTGAAGAAACAT	0.488000														101			4		0	0	0.003080	0	0
USP24	23358	broad.mit.edu	37	1	55638164	55638164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:55638164C>T	uc021onw.1	-	3	841	c.588G>A	c.(586-588)tgG>tgA	p.W196*	USP24_uc001cyg.4_Nonsense_Mutation_p.W78*	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	196					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTCAGTACCCCACTTGTGAA	0.368000														70			18		0	0	0.014323	0	0
VWF	7450	broad.mit.edu	37	12	6219737	6219737	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:6219737G>A	uc001qnn.1	-	4	585	c.335C>T	c.(334-336)cCc>cTc	p.P112L	VWF_uc010set.1_Missense_Mutation_p.P112L|VWF_uc001qno.1_Missense_Mutation_p.P149L	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	112	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGGCATAGGGCATGGAGAC	0.537000														136			4		0	0	0.009096	0	0
PTPN11	5781	broad.mit.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	A	A	rs121918454		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:112888199C>A	uc001ttx.3	+	2	595	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_uc001ttw.1_Missense_Mutation_p.A72D	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(74)|p.A72T(33)|p.F71L(7)|p.A72D(6)|p.F71K(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					120			74		5.32961e-40	6.11129e-40	0.014410	1	0
PDE6B	5158	broad.mit.edu	37	4	647918	647918	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:647918C>T	uc003gap.3	+	4	955	c.902C>T	c.(901-903)tCg>tTg	p.S301L	PDE6B_uc003gao.4_Missense_Mutation_p.S301L|PDE6B_uc011buy.2_Missense_Mutation_p.S22L|PDE6B_uc010ibg.2_Missense_Mutation_p.S22L|BC020343_uc003gaq.1_Non-coding_Transcript	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	301	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGCCGTACTCGGGCCCACGC	0.647000														49			24		0	0	0.012213	0	0
ZNF229	7772	broad.mit.edu	37	19	44933647	44933647	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:44933647C>T	uc002oze.1	-	5	1743	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	ZNF229_uc010ejk.1_Missense_Mutation_p.E91K|ZNF229_uc010ejl.1_Missense_Mutation_p.E431K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTGCCACACTCGCTGCAGGTG	0.537000														59			31		0	0	0.007291	0	0
DDR2	4921	broad.mit.edu	37	1	162741843	162741843	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:162741843C>T	uc001gcf.3	+	13	1999	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	DDR2_uc001gcg.3_Missense_Mutation_p.P512S	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	512					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCCAGTCCAGCCCAGTGGCCC	0.577000														16			11		0	0	0.013537	0	0
C15orf2	23742	broad.mit.edu	37	15	24921561	24921561	+	Missense_Mutation	SNP	G	A	A	rs151186438	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:24921561G>A	uc001ywo.3	+	0	1021	c.547G>A	c.(547-549)Gga>Aga	p.G183R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	183					cell differentiation|multicellular organismal development|spermatogenesis			p.S182S(1)|p.G183V(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTTAGCAGCGGAGAAGCATC	0.597000														27			20		0	0	0.008871	0	0
NUP160	23279	broad.mit.edu	37	11	47809761	47809761	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr11:47809761G>A	uc001ngm.3	-	30	3804	c.3719C>T	c.(3718-3720)aCg>aTg	p.T1240M	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.T1240M	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	1240					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding	p.T1240M(2)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAAGACTGGCGTTAAGGGAAG	0.398000														45			28		0	0	0.008361	0	0
AK310441	0	broad.mit.edu	37	1	148882025	148882025	+	RNA	SNP	C	T	T	rs150449871	by1000genomes	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:148882025C>T	uc009wkv.1	+	2		c.246C>T								Homo sapiens cDNA, FLJ17483.																		TGTTTTCTAGCAGTGACAAAT	0.343000														137			4		0	0	0.014758	0	0
COL6A3	1293	broad.mit.edu	37	2	238249727	238249727	+	Missense_Mutation	SNP	G	A	A	rs114806654	by1000genomes	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:238249727G>A	uc002vwl.2	-	37	8117	c.7832C>T	c.(7831-7833)gCg>gTg	p.A2611V	COL6A3_uc002vwo.2_Missense_Mutation_p.A2405V|COL6A3_uc010znj.1_Missense_Mutation_p.A2004V|COL6A3_uc002vwj.2_5'UTR	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2611	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A2611E(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTCCCTGCCGCTCTCCTGTC	0.512000														118			76		0	0	0.014410	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72138006	72138006	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:72138006G>A	uc001xms.3	+	7	2787	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R809H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R809H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R809H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R284H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	809	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTCGGACCCGCCAGGAATAC	0.473000														49			29		0	0	0.010818	0	0
C14orf182	283551	broad.mit.edu	37	14	50472373	50472373	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:50472373G>A	uc001wxi.1	-	0	1866	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	Homo sapiens chromosome 14 open reading frame 182 (C14orf182), mRNA.	49								p.R49*(2)		large_intestine(2)|urinary_tract(1)	3						TGTCTGTGTCGTAGAACTGTG	0.527000														288			6		0	0	0.001168	0	0
CALN1	83698	broad.mit.edu	37	7	71252834	71252834	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:71252834C>T	uc003twb.4	-	6	1103	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	CALN1_uc003twa.4_Missense_Mutation_p.A196T|CALN1_uc003twc.4_Missense_Mutation_p.A196T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	196						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567000														80			27		0	0	0.004656	0	0
OBSCN	84033	broad.mit.edu	37	1	228431148	228431148	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:228431148T>C	uc009xez.1	+	9	3238	c.3194T>C	c.(3193-3195)cTg>cCg	p.L1065P	OBSCN_uc001hsn.3_Missense_Mutation_p.L1065P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1065	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCTTCCGCCTGCACATCACA	0.547000														16			11		0	0	0.008291	0	0
ADAM7	8756	broad.mit.edu	37	8	24346749	24346749	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24346749T>G	uc003xeb.3	+	11	1282	c.1169T>G	c.(1168-1170)aTg>aGg	p.M390R	ADAM7_uc003xec.3_Missense_Mutation_p.M162R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	390	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCAACATGCATGCTCAACATT	0.398000														72			44		0	0	0.014410	0	0
PTTG3P	26255	broad.mit.edu	37	8	67680233	67680233	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:67680233G>T	uc011leu.2	-	0	8	c.8C>A	c.(7-9)aCt>aAt	p.T3N	SGK3_uc003xwp.3_Intron|SGK3_uc003xwr.3_Intron					Homo sapiens pituitary tumor-transforming 3, pseudogene (PTTG3P), non-coding RNA.																		ATAGATCAGAGTAGCCATTCT	0.383000														31			4		1.58986e-06	1.75293e-06	0.008291	1	0
PKHD1	5314	broad.mit.edu	37	6	51892973	51892973	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51892973C>A	uc003pah.1	-	29	3817	c.3541G>T	c.(3541-3543)Gtc>Ttc	p.V1181F	PKHD1_uc003pai.3_Missense_Mutation_p.V1181F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1181	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAATGCTGACCCCATTGATA	0.498000														212			124		8.80896e-55	1.02374e-54	0.014410	1	0
AK296148	0	broad.mit.edu	37	17	18333005	18333005	+	RNA	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:18333005C>T	uc010vxz.2	+	3		c.827C>T								Homo sapiens cDNA FLJ61294 complete cds, highly similar to Keratin, type I cytoskeletal 17.																		AGGAGATGAACGCCCCGCGAG	0.607000														3			8		0	0	0.010729	0	0
ATP2B2	491	broad.mit.edu	37	3	10452378	10452378	+	Silent	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:10452378C>T	uc003bvt.3	-	2	760	c.321G>A	c.(319-321)acG>acA	p.T107T	ATP2B2_uc003bvv.3_Silent_p.T107T|ATP2B2_uc003bvw.3_Silent_p.T107T|ATP2B2_uc010hdp.2_Silent_p.T107T|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	107					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGATGAGCGTCACGTCCT	0.552000														355			8		0	0	0.003080	0	0
LOC650368	650368	broad.mit.edu	37	11	3427830	3427830	+	RNA	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr11:3427830G>A	uc010qxs.1	+	8		c.823G>A			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		TGTGTGTGCCGTGAACTTCAA	0.582000														78			4		0	0	0.009096	0	0
KRT28	162605	broad.mit.edu	37	17	38955859	38955859	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:38955859C>T	uc002hvh.1	-	0	353	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	96	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGATGCCAAGCGGTCATTAAG	0.478000														175			6		0	0	0.001168	0	0
TMEM170A	124491	broad.mit.edu	37	16	75481522	75481522	+	Silent	SNP	T	G	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:75481522T>G	uc002fee.1	-	2	455	c.369A>C	c.(367-369)acA>acC	p.T123T	TMEM170A_uc002feb.3_Silent_p.T85T|TMEM170A_uc002fec.3_Silent_p.T100T|TMEM170A_uc002fed.1_Non-coding_Transcript	NM_145254	NP_660297	Q8WVE7	T170A_HUMAN	Homo sapiens transmembrane protein 170A (TMEM170A), mRNA.	123						integral to membrane				endometrium(1)	1						CAGTGCCCAGTGTGAGGGCTT	0.408000														113			65		0	0	0.014410	0	0
OR13C5	138799	broad.mit.edu	37	9	107361264	107361264	+	Missense_Mutation	SNP	A	C	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107361264A>C	uc011lvp.2	-	0	431	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M144I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCCAGCTGCCATGGGTACATA	0.473000														291			21		0	0	0.004656	0	0
SSX8	280659	broad.mit.edu	37	X	52661935	52661935	+	RNA	SNP	T	C	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:52661935T>C	uc011mob.1	+	6		c.846T>C								Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		AGGAAGATGATGAGTAACTCC	0.483000														168			7		0	0	0.020292	0	0
ODZ1	10178	broad.mit.edu	37	X	123654451	123654451	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:123654451C>T	uc010nqy.3	-	17	3281	c.3217G>A	c.(3217-3219)Gcc>Acc	p.A1073T	ODZ1_uc011muj.2_Missense_Mutation_p.A1072T|ODZ1_uc004euj.3_Missense_Mutation_p.A1073T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1073					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.A1075S(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTAATTGCGGCGGGAAACCAC	0.473000														24			111		0	0	0.014410	0	0
ATP10B	23120	broad.mit.edu	37	5	160025790	160025790	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:160025790C>A	uc003lym.1	-	21	4398	c.3551G>T	c.(3550-3552)gGc>gTc	p.G1184V	ATP10B_uc010jit.1_Intron	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1184					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGTTCTGGCCACTCTTGTA	0.502000														275			193		8.57144e-96	1.02381e-95	0.014410	1	0
YSK4	80122	broad.mit.edu	37	2	135745373	135745373	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:135745373G>A	uc002tue.1	-	6	1100	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Nonsense_Mutation_p.R244*|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Nonsense_Mutation_p.R85*|YSK4_uc002tui.4_Nonsense_Mutation_p.R374*	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	357							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGGTTTTCGCGTTTTACTA	0.378000														69			50		0	0	0.014410	0	0
RGN	9104	broad.mit.edu	37	X	46943843	46943843	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:46943843C>T	uc004dgz.1	+	3	1159	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RGN_uc004dha.1_Missense_Mutation_p.R64C|RGN_uc010nho.1_Missense_Mutation_p.R11C|RGN_uc010nhp.1_Missense_Mutation_p.R64C	NM_152869	NP_690608	Q15493	RGN_HUMAN	Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.	64					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						CGTGGCTCTTCGCCAGTCGGG	0.493000														4			16		0	0	0.006122	0	0
PITX2	5308	broad.mit.edu	37	4	111539762	111539762	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:111539762G>A	uc003iaf.3	-	6	2296	c.473C>T	c.(472-474)cCg>cTg	p.P158L	PITX2_uc003iac.3_Missense_Mutation_p.P165L|PITX2_uc003iad.3_Missense_Mutation_p.P158L|PITX2_uc021xqr.1_Missense_Mutation_p.P158L|PITX2_uc003iae.3_Missense_Mutation_p.P112L|PITX2_uc021xqs.1_Missense_Mutation_p.P112L	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	158					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATTGAACTGCGGCCCGAAGCC	0.592000														102			4		0	0	0.009096	0	0
TRIP13	9319	broad.mit.edu	37	5	908507	908507	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:908507C>T	uc003jbr.3	+	8	942	c.797C>T	c.(796-798)gCg>gTg	p.A266V	TRIP13_uc010ite.2_Missense_Mutation_p.A266V	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	266					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	p.A266S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCCTGCAGGGCGGGCACCGAG	0.562000														69			46		0	0	0.014410	0	0
CD1A	909	broad.mit.edu	37	1	158226760	158226760	+	Silent	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:158226760C>T	uc001frt.3	+	3	1322	c.789C>T	c.(787-789)cgC>cgT	p.R263R	CD1A_uc021pbk.1_Non-coding_Transcript	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	263	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		p.R263R(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGTATCTCCGCGCAACCCTGG	0.632000														95			66		0	0	0.014410	0	0
OR13C2	392376	broad.mit.edu	37	9	107367478	107367478	+	Missense_Mutation	SNP	A	C	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107367478A>C	uc011lvq.2	-	0	431	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCCAGCTGCCATGGGTACATA	0.468000														99			32		0	0	0.009718	0	0
CDH12	1010	broad.mit.edu	37	5	21817101	21817101	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:21817101T>G	uc010iuc.2	-	5	1413	c.955A>C	c.(955-957)Atc>Ctc	p.I319L	CDH12_uc011cno.1_Missense_Mutation_p.I279L|CDH12_uc003jgk.2_Missense_Mutation_p.I319L	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	319	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGTGACGATGTCAAACAAA	0.348000										HNSCC(59;0.17)				295			7		0	0	0.003080	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40673	40673	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrGL000218.1:40673A>G	uc011mfn.2	-	2	346	c.257T>C	c.(256-258)gTg>gCg	p.V86A	LOC100233156_uc003jah.2_Missense_Mutation_p.V86A					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CTTGTGCCGCACGTCCTCCAG	0.667000														10			4		0	0	0.014758	0	0
SVEP1	79987	broad.mit.edu	37	9	113217968	113217968	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:113217968G>C	uc010mtz.3	-	21	4026	c.3689C>G	c.(3688-3690)aCa>aGa	p.T1230R	SVEP1_uc010mua.1_Missense_Mutation_p.T1230R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1230					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCGATGTCTGTTTCACACTT	0.418000														33			20		0	0	0.012319	0	0
CARD14	79092	broad.mit.edu	37	17	78171904	78171904	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:78171904C>T	uc002jxw.1	+	11	1795	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.P534L|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.P297L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	534					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAGACCTTCCGCAGCTGGAA	0.592000														104			27		0	0	0.007291	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719281	140719281	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:140719281G>A	uc003ljk.2	+	0	928	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.R248H	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	248	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R248H(1)|p.R248R(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557000														152			4		0	0	0.009096	0	0
SLC30A6	55676	broad.mit.edu	37	2	32422896	32422896	+	Splice_Site	DEL	G	-	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:32422896delG	uc002rof.2	+	11	845	c.785_splice	c.e11+1	p.N262_splice	SLC30A6_uc002roe.2_Splice_Site_p.N222_splice|SLC30A6_uc010ymw.2_Splice_Site_p.N193_splice|SLC30A6_uc010ezr.2_Splice_Site_p.N222_splice|SLC30A6_uc002rog.2_Splice_Site_p.N25_splice|SLC30A6_uc010ezs.2_Splice_Site_p.N148_splice|SLC30A6_uc002roh.2_Splice_Site_p.N25_splice	NM_001193513	NP_001180442	Q6NXT4	ZNT6_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), transcript variant 1, mRNA.	222						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGAAATTAAGTGAGTATTTT	0.373													---	92	---	---	47	---					
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:56336954delA	uc003haz.1	-	8	1294	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(4)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289													---	255	---	---	7	---					
PRKDC	5591	broad.mit.edu	37	8	48866909	48866910	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:48866909_48866910insT	uc003xqi.3	-	4	553_554	c.496_497insA	c.(496-498)atafs	p.I166fs	PRKDC_uc003xqj.3_Frame_Shift_Ins_p.I166fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	166					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTATCTGGTATTTTTTTTTTC	0.267								Non-homologous end-joining					---	4	---	---	2	---					
FRMD4A	55691	broad.mit.edu	37	10	13699134	13699142	+	In_Frame_Del	DEL	CGCCCCCCG	-	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:13699134_13699142delCGCCCCCCG	uc001ims.3	-	21	2799_2807	c.2447_2455delCGGGGGGCG	c.(2446-2457)gcggggggcggt>ggt	p.AGG816del	FRMD4A_uc009xjf.1_In_Frame_Del_p.AGG816del	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	816						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGTACACAccgccccccgcgccccccgc	0.761													---	4	---	---	5	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	-	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr11:76506673_76506675delCTG	uc021qno.1	+	0	13_15	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_uc001oxt.3_In_Frame_Del_p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													---	98	---	---	7	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	89	---	---	7	---					
PLCG1	5335	broad.mit.edu	37	20	39802386	39802387	+	In_Frame_Ins	INS	-	GAAGAA	GAAGAA			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:39802386_39802387insGAAGAA	uc002xjp.1	+	28	3610_3611	c.3489_3490insGAAGAA	c.(3487-3492)insGAAGAA	p.1163_1164insEE	PLCG1_uc002xjo.1_In_Frame_Ins_p.1163_1164insEE|PLCG1_uc010zwe.1_In_Frame_Ins_p.828_829insEE	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1163	C2.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGGTGTATGAGGAAGACATGTT	0.515											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	234	---	---	47	---					
SLC25A5	292	broad.mit.edu	37	X	118603962	118603962	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:118603962delT	uc004erh.4	+	1	566	c.450delT	c.(448-450)gctfs	p.A150fs	SLC25A5-AS1_uc022cdj.1_5'Flank|SLC25A5-AS1_uc004ere.1_5'Flank|SLC25A5-AS1_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 (SLC25A5), nuclear gene encoding mitochondrial protein, mRNA.	150					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	MMXD complex|integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	AAGCTGGAGCTGAAAGGGAAT	0.537													---	124	---	---	9	---					
