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
GUCY2C	2984	broad.mit.edu	37	12	14772233	14772233	+	Silent	SNP	A	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:14772233A>C	uc001rcd.3	-	23	2924	c.2787T>G	c.(2785-2787)gcT>gcG	p.A929A		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	929	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAACTCCAGCAGCACAGGGAC	0.483000														48			25		0	0	0.003954	0	0
FAM71B	153745	broad.mit.edu	37	5	156590018	156590018	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr5:156590018G>C	uc003lwn.3	-	1	1358	c.1258C>G	c.(1258-1260)Ccc>Gcc	p.P420A		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	420						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGCACTGGGCTGGGAAACT	0.488000														52			48		0	0	0.014410	0	0
PLCH2	9651	broad.mit.edu	37	1	2430213	2430213	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:2430213A>G	uc001aji.1	+	17	2651	c.2377A>G	c.(2377-2379)Att>Gtt	p.I793V	PLCH2_uc010nyz.2_Missense_Mutation_p.I582V|PLCH2_uc009vle.1_Missense_Mutation_p.I546V|PLCH2_uc001ajj.1_Missense_Mutation_p.I582V|PLCH2_uc001ajk.1_Missense_Mutation_p.I582V|PLCH2_uc001ajl.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	794	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGTGGAGATCATTGGGCTCCC	0.657000														11			12		0	0	0.001855	0	0
C19orf57	79173	broad.mit.edu	37	19	13996869	13996869	+	Splice_Site	SNP	C	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:13996869C>G	uc002mxl.1	-	7	1728	c.1669_splice	c.e7-1	p.L557_splice	C19orf57_uc002mxk.1_Splice_Site_p.L439_splice	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	557					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AAGGAAAGAGCTGGAAAGAGA	0.632000														32			18		0	0	0.007413	0	0
DUOX1	53905	broad.mit.edu	37	15	45456068	45456068	+	Silent	SNP	T	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr15:45456068T>A	uc001zus.1	+	33	4831	c.4485T>A	c.(4483-4485)cgT>cgA	p.R1495R	DUOX1_uc001zut.1_Silent_p.R1495R|DUOX1_uc010bee.1_Silent_p.R875R	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1495					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACTTTGGCCGTCCCCCCTTTG	0.552000														68			53		0	0	0.014410	0	0
CARD10	29775	broad.mit.edu	37	22	37914027	37914027	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr22:37914027G>C	uc003asx.1	-	1	341	c.324C>G	c.(322-324)ttC>ttG	p.F108L	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asy.1_Missense_Mutation_p.F108L	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	108	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TGAGCAGCGTGAAGTGTTCGG	0.622000														41			12		0	0	0.010729	0	0
USP20	10868	broad.mit.edu	37	9	132623219	132623219	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr9:132623219T>C	uc004bys.2	+	6	545	c.334T>C	c.(334-336)Tcc>Ccc	p.S112P	USP20_uc004byr.2_Missense_Mutation_p.S112P|USP20_uc004byt.1_Missense_Mutation_p.S112P	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	112					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AACACAGGACTCCCCGCCACC	0.567000														124			61		0	0	0.014410	0	0
ACTB	60	broad.mit.edu	37	7	5568977	5568977	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:5568977T>C	uc003sot.4	-	2	262	c.178A>G	c.(178-180)Agc>Ggc	p.S60G	ACTB_uc003sor.4_5'UTR|ACTB_uc003soq.4_5'UTR	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	60					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CCTCTCTTGCTCTGGGCCTCG	0.587000														68			85		0	0	0.014410	0	0
C6orf136	221545	broad.mit.edu	37	6	30615105	30615105	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr6:30615105A>G	uc003nqx.4	+	0	290	c.97A>G	c.(97-99)Agg>Ggg	p.R33G	C6orf136_uc003nqw.4_Intron|C6orf136_uc011dmn.2_Intron	NM_001161376	NP_001154848	Q5SQH8	CF136_HUMAN	Homo sapiens chromosome 6 open reading frame 136 (C6orf136), transcript variant 3, mRNA.	0										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						AGAGGGAGGGAGGAGAGGGGG	0.736000														24			7		0	0	0.003080	0	0
FDXR	2232	broad.mit.edu	37	17	72861043	72861043	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:72861043A>C	uc010wrl.2	-	6	836	c.749T>G	c.(748-750)aTc>aGc	p.I250S	FDXR_uc010wri.2_Missense_Mutation_p.I155S|FDXR_uc010wrj.2_Missense_Mutation_p.I205S|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Missense_Mutation_p.I213S|FDXR_uc002jly.3_Missense_Mutation_p.I207S|FDXR_uc010wrk.2_Missense_Mutation_p.I238S|FDXR_uc010wrm.2_Missense_Mutation_p.I167S|FDXR_uc002jlz.3_Missense_Mutation_p.I199S|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	207					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCCTTCGTGATGTCCGTTCT	0.592000											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			44		0	0	0.014410	0	0
NEMF	9147	broad.mit.edu	37	14	50256253	50256253	+	Silent	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr14:50256253C>T	uc010anj.1	-	26	2726	c.2658G>A	c.(2656-2658)caG>caA	p.Q886Q	NEMF_uc001wwz.3_Silent_p.Q86Q|NEMF_uc001wxa.3_Silent_p.Q166Q|NEMF_uc001wxc.3_Silent_p.Q886Q|NEMF_uc010tqi.2_Silent_p.Q865Q|NEMF_uc001wxe.2_Silent_p.Q844Q	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	886						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTCTTCATCCTGGTCTTTGT	0.328000														33			13		0	0	0.004007	0	0
SSBP3	23648	broad.mit.edu	37	1	54870254	54870254	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:54870254C>T	uc001cxe.3	-	2	597	c.186G>A	c.(184-186)tgG>tgA	p.W62*	SSBP3_uc001cxf.3_Nonsense_Mutation_p.W62*|SSBP3_uc001cxg.3_Nonsense_Mutation_p.W62*	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	Homo sapiens single stranded DNA binding protein 3 (SSBP3), transcript variant 1, mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CTTACCACCACCACGAGTGCA	0.507000														37			17		0	0	0.006122	0	0
CNTN1	1272	broad.mit.edu	37	12	41316146	41316146	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:41316146C>T	uc001rmm.1	+	4	429	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	CNTN1_uc009zjy.2_Nonsense_Mutation_p.Q106*|CNTN1_uc001rmn.1_Nonsense_Mutation_p.Q95*|CNTN1_uc001rmo.3_Nonsense_Mutation_p.Q106*	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	106	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCCTGACAAACAGAAAGATGC	0.398000														41			33		0	0	0.012213	0	0
EMILIN2	84034	broad.mit.edu	37	18	2913257	2913257	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr18:2913257G>T	uc002kln.3	+	7	3176	c.3017G>T	c.(3016-3018)gGg>gTg	p.G1006V		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	1006	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGGGGCCCGGGGGCATTCCAC	0.607000														31			13		0.00136819	0.00139794	0.013537	1	0
DNAH2	146754	broad.mit.edu	37	17	7727461	7727461	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:7727461G>A	uc002giu.1	+	74	11515	c.11501G>A	c.(11500-11502)cGa>cAa	p.R3834Q	DNAH2_uc010cnm.1_Missense_Mutation_p.R772Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3834	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAACCCCACGATCCCCACTC	0.597000														134			22		0	0	0.003330	0	0
TACR2	6865	broad.mit.edu	37	10	71175766	71175766	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr10:71175766A>T	uc001jpn.2	-	0	909	c.314T>A	c.(313-315)tTc>tAc	p.F105Y		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	105					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAAGTAGCAGAAGGCACGGCC	0.552000														22			14		0	0	0.004990	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697207	51697207	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr3:51697207C>G	uc011bdt.2	+	21	4300	c.4175C>G	c.(4174-4176)tCc>tGc	p.S1392C	RAD54L2_uc003dbh.3_Missense_Mutation_p.S981C|RAD54L2_uc011bdu.2_Missense_Mutation_p.S1086C|RAD54L2_uc003dbj.3_Missense_Mutation_p.S718C	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1392						nucleus	ATP binding|DNA binding|helicase activity	p.S1392S(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCACTCCTGTCCGAGCCGAGG	0.567000														59			40		0	0	0.009718	0	0
SS18	6760	broad.mit.edu	37	18	23670482	23670482	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr18:23670482G>A	uc002kvm.3	-	0	130	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S	SS18_uc002kvn.3_Missense_Mutation_p.P18S|SS18_uc010xbf.2_5'UTR|SS18_uc010xbg.2_5'UTR|SS18_uc010xbh.2_5'UTR|SS18_uc010xbi.2_Intron|SS18_uc010dlz.1_5'UTR	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	18	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATCGCAGCGGGAGTGATCTCC	0.682000			T	"""SSX1,  SSX2"""	synovial sarcoma									5			3		0	0	0.009096	0	0
VRK1	7443	broad.mit.edu	37	14	97321567	97321567	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr14:97321567T>A	uc001yft.3	+	7	689	c.583T>A	c.(583-585)Ttg>Atg	p.L195M		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	195	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		ATAGGTGTACTTGGTAGATTA	0.388000														47			38		0	0	0.007835	0	0
PLRG1	5356	broad.mit.edu	37	4	155465648	155465648	+	Silent	SNP	T	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr4:155465648T>C	uc003iny.3	-	6	668	c.543A>G	c.(541-543)aaA>aaG	p.K181K	PLRG1_uc003inz.3_Silent_p.K172K|PLRG1_uc011cil.2_Silent_p.K20K	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	181						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TTGTAGGGGCTTTTTTAGCCA	0.408000														30			20		0	0	0.016522	0	0
PCSK1	5122	broad.mit.edu	37	5	95761622	95761622	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr5:95761622C>G	uc003kls.2	-	2	537	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	PCSK1_uc021ybq.1_Missense_Mutation_p.E53Q	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	100					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACTGTTGTTCAGCCCATATC	0.383000														21			13		0	0	0.001855	0	0
PARD6B	84612	broad.mit.edu	37	20	49366295	49366295	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr20:49366295A>G	uc002xvo.3	+	2	632	c.389A>G	c.(388-390)cAt>cGt	p.H130R		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	130	Interaction with PARD3 and CDC42 (By similarity).				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	p.H130R(2)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AAAAAGCCACATATAGTCATT	0.403000														26			13		0	0	0.003163	0	0
CD22	933	broad.mit.edu	37	19	35828752	35828752	+	Silent	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:35828752C>T	uc010edt.3	+	4	897	c.813C>T	c.(811-813)aaC>aaT	p.N271N	CD22_uc010edu.3_Silent_p.N271N|CD22_uc010edv.3_Silent_p.N271N|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Silent_p.N99N|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	271	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GCAGCAGCAACCCGGAGTACA	0.567000														37			30		0	0	0.007291	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102987369	102987369	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr11:102987369T>C	uc001phn.1	+	4	836	c.692T>C	c.(691-693)gTa>gCa	p.V231A	DYNC2H1_uc009yxe.1_Missense_Mutation_p.V231A|DYNC2H1_uc001pho.2_Missense_Mutation_p.V231A	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	231	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)		CAGGATGTTGTAGATGATGTG	0.343000														57			47		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9059472	9059472	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:9059472G>T	uc002mkp.3	-	2	28178	c.27974C>A	c.(27973-27975)gCc>gAc	p.A9325D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9327	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAGAGATGGCTTCTGTCCT	0.507000														60			60		2.01871e-26	2.37199e-26	0.014410	1	0
DUOX1	53905	broad.mit.edu	37	15	45456067	45456067	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr15:45456067G>T	uc001zus.1	+	33	4830	c.4484G>T	c.(4483-4485)cGt>cTt	p.R1495L	DUOX1_uc001zut.1_Missense_Mutation_p.R1495L|DUOX1_uc010bee.1_Missense_Mutation_p.R875L	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1495					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CACTTTGGCCGTCCCCCCTTT	0.552000														67			51		3.68337e-26	4.27453e-26	0.014410	1	0
PDGFRA	5156	broad.mit.edu	37	4	54266007	54266007	+	Splice_Site	SNP	G	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr4:54266007G>C	uc003haa.3	+	10	1001	c.815_splice	c.e10+1	p.R272_splice	PDGFRA_uc003gzx.4_Splice_Site_p.R257_splice|PDGFRA_uc011bzt.1_Splice_Site_p.R272_splice|PDGFRA_uc003gzy.3_Splice_Site_p.R272_splice|PDGFRA_uc011bzu.2_Splice_Site_p.R257_splice|PDGFRA_uc003gzz.3_Splice_Site_p.R234_splice|PDGFRA_uc003hab.3_Splice_Site_p.R237_splice|PDGFRA_uc010ign.3_Splice_Site	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	1037	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CACCGAGCAGGTTAGTTACAT	0.363000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				38			26		0	0	0.007291	0	0
DCDC5	100506627	broad.mit.edu	37	11	30902745	30902745	+	Silent	SNP	G	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr11:30902745G>T	uc009yjk.1	-	24	3597	c.3528C>A	c.(3526-3528)gtC>gtA	p.V1176V	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.V835V|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	78					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						ACACACAGATGACCATATCTC	0.453000														27			23		2.98393e-07	3.15157e-07	0.016522	1	0
WDR91	29062	broad.mit.edu	37	7	134871027	134871027	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:134871027A>T	uc003vsp.2	-	14	2182	c.2120T>A	c.(2119-2121)cTa>cAa	p.L707Q	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.L296Q	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	707										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGGCCACCTAGGCTCAAGCA	0.587000														32			32		0	0	0.013726	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951203	30951203	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr22:30951203C>G	uc003aig.1	-	3	1149	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P	GAL3ST1_uc003aih.1_Missense_Mutation_p.A337P|GAL3ST1_uc003aii.1_Missense_Mutation_p.A337P|GAL3ST1_uc010gvz.1_Missense_Mutation_p.A337P	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	337					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGCTCGTTGGCATGGCGCAGG	0.721000														10			11		0	0	0.010729	0	0
EFR3A	23167	broad.mit.edu	37	8	132968018	132968018	+	Silent	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr8:132968018C>T	uc003yte.3	+	6	846	c.642C>T	c.(640-642)cgC>cgT	p.R214R		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	214						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTTTAGTCGCATAGGCCCTC	0.358000														49			21		0	0	0.003330	0	0
SCAF1	58506	broad.mit.edu	37	19	50161552	50161552	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:50161552A>C	uc002poq.3	+	10	3959	c.3835A>C	c.(3835-3837)Aag>Cag	p.K1279Q	Mir_324_uc021uxt.1_5'Flank	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1279	Necessary for interaction with the CTD domain of POLR2A.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTACTTCCGCAAGCACGGTCG	0.701000														9			9		0	0	0.006214	0	0
ZNF335	63925	broad.mit.edu	37	20	44578919	44578919	+	Silent	SNP	G	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr20:44578919G>C	uc002xqw.3	-	21	3549	c.3426C>G	c.(3424-3426)acC>acG	p.T1142T	ZNF335_uc002xqv.3_Silent_p.T254T|ZNF335_uc010zxk.2_Silent_p.T987T	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TTGGGGTCTGGGTAGGGGCCC	0.612000														56			25		0	0	0.003954	0	0
ZNF609	23060	broad.mit.edu	37	15	64791991	64791991	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr15:64791991T>C	uc002ann.3	+	0	373	c.373T>C	c.(373-375)Tca>Cca	p.S125P	ZNF609_uc010bgy.3_Missense_Mutation_p.S125P	NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	125						nucleus	zinc ion binding	p.R124H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGGGGCGCTCAGGAGATGG	0.567000														38			16		0	0	0.003163	0	0
ANKMY2	57037	broad.mit.edu	37	7	16650260	16650260	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:16650260C>T	uc003sti.3	-	5	904	c.660G>A	c.(658-660)atG>atA	p.M220I	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	220						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AATGCATCTTCATAGCCAATA	0.353000														36			31		0	0	0.008361	0	0
RASA4	10156	broad.mit.edu	37	7	44073912	44073912	+	Splice_Site	SNP	T	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:44073912T>C	uc011kbk.1	-	6	637	c.532_splice	c.e6-1	p.C178_splice	RASA4_uc003tji.2_Splice_Site|RASA4_uc010kxx.2_Splice_Site	NM_006989	NP_008920	O43374	RASL2_HUMAN	Homo sapiens RAS p21 protein activator 4 (RASA4), transcript variant 1, mRNA.	657	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						ATTCACACACTGCAGGGGACA	0.597000														11			18		0	0	0.010504	0	0
ANKMY2	57037	broad.mit.edu	37	7	16650259	16650259	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:16650259T>C	uc003sti.3	-	5	905	c.661A>G	c.(661-663)Aag>Gag	p.K221E	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	221						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TAATGCATCTTCATAGCCAAT	0.353000														36			30		0	0	0.009535	0	0
SYNE1	23345	broad.mit.edu	37	6	152631610	152631610	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr6:152631610G>A	uc021zhb.1	-	86	17163	c.16940C>T	c.(16939-16941)gCc>gTc	p.A5647V	SYNE1_uc003qos.4_Missense_Mutation_p.A171V|SYNE1_uc003qot.4_Missense_Mutation_p.A5576V|SYNE1_uc003qou.4_Missense_Mutation_p.A5647V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5647					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.A5647V(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTCCAAGGCAGCTTGTAA	0.433000										HNSCC(10;0.0054)				26			19		0	0	0.006122	0	0
KCTD4	386618	broad.mit.edu	37	13	45768535	45768535	+	Silent	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr13:45768535G>A	uc001uzx.4	-	1	572	c.168C>T	c.(166-168)gaC>gaT	p.D56D	GTF2F2_uc001uzw.3_Intron|KCTD4_uc021rjf.1_Silent_p.D56D	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 4 (KCTD4), mRNA.	56	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		CAAGGAAAGTGTCTGGGTACT	0.413000														103			51		0	0	0.014410	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237860	33237860	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:33237860G>A	uc001bvu.1	+	5	3124	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	KIAA1522_uc010ohm.1_Missense_Mutation_p.R979H|KIAA1522_uc001bvv.2_Missense_Mutation_p.R968H|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	968										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTGTGGCCCGCAAGCCGTCT	0.662000														61			5		0	0	0.014758	0	0
GLT25D2	23127	broad.mit.edu	37	1	183944269	183944269	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:183944269G>C	uc001gqr.3	-	2	826	c.454C>G	c.(454-456)Ctt>Gtt	p.L152V	GLT25D2_uc010poj.1_Missense_Mutation_p.L152V|GLT25D2_uc001gqs.3_Missense_Mutation_p.L32V	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	152					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						GCAGTTCGAAGGGCTGCCTGT	0.438000														50			29		0	0	0.010818	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139704	5139704	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr10:5139704G>C	uc001ihr.3	+	2	514	c.331G>C	c.(331-333)Gtt>Ctt	p.V111L	AKR1C3_uc021pml.1_Missense_Mutation_p.V111L|AKR1C3_uc010qap.2_Missense_Mutation_p.V88L|AKR1C3_uc010qaq.1_Missense_Mutation_p.V111L|AKR1C3_uc001ihu.3_Missense_Mutation_p.V111L	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	111					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ATTGGACTATGTTGACCTCTA	0.403000														43			34		0	0	0.004289	0	0
NAV3	89795	broad.mit.edu	37	12	78604234	78604234	+	Silent	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:78604234C>T	uc001syp.3	+	39	7268	c.7095C>T	c.(7093-7095)tgC>tgT	p.C2365C	NAV3_uc001syo.3_Silent_p.C2343C|NAV3_uc010sub.2_Silent_p.C1822C|NAV3_uc009zsf.3_Silent_p.C1174C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2365						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACAAAGCTGCGACAGCGAAA	0.403000										HNSCC(70;0.22)				41			24		0	0	0.003330	0	0
GDF5	8200	broad.mit.edu	37	20	34021936	34021936	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr20:34021936G>T	uc010gfc.1	-	1	1518	c.1277C>A	c.(1276-1278)gCt>gAt	p.A426D	GDF5OS_uc002xcj.3_Missense_Mutation_p.S116I|GDF5_uc002xck.1_Missense_Mutation_p.A426D	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	426					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCAGTGGAAAGCCTCGTACTC	0.582000														37			25		1.85244e-09	2.00149e-09	0.003330	1	0
KIAA2026	158358	broad.mit.edu	37	9	5921575	5921575	+	Missense_Mutation	SNP	A	C	C	rs76173761	by1000genomes	TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr9:5921575A>C	uc003zjq.4	-	7	4637	c.4421T>G	c.(4420-4422)aTg>aGg	p.M1474R	KIAA2026_uc010mht.3_Missense_Mutation_p.M649R	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1474										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGATACCAGCATAAGTTTCTG	0.408000														24			21		0	0	0.016522	0	0
DDO	8528	broad.mit.edu	37	6	110734538	110734538	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr6:110734538G>A	uc003puc.3	-	1	216	c.212C>T	c.(211-213)aCc>aTc	p.T71I	METTL24_uc003pub.2_5'Flank|DDO_uc003pud.3_Missense_Mutation_p.T71I	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	43					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CACATCACTGGTGGTATCTGG	0.493000														66			50		0	0	0.014410	0	0
GCC2	9648	broad.mit.edu	37	2	109109239	109109239	+	Silent	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr2:109109239C>T	uc002tec.3	+	18	4594	c.4440C>T	c.(4438-4440)acC>acT	p.T1480T	GCC2_uc002ted.3_Silent_p.T1379T	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1480					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATGAACCGACCACAAGAAGTA	0.373000														20			19		0	0	0.008871	0	0
PCLO	27445	broad.mit.edu	37	7	82584714	82584714	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:82584714T>A	uc003uhx.2	-	4	5844	c.5555A>T	c.(5554-5556)cAt>cTt	p.H1852L	PCLO_uc003uhv.2_Missense_Mutation_p.H1852L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1783					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAAGATCTATGGAGCTCCTC	0.408000														123			59		0	0	0.014410	0	0
GPR1	2825	broad.mit.edu	37	2	207040930	207040930	+	Silent	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr2:207040930G>A	uc021vvl.1	-	0	1042	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	GPR1_uc002vbl.4_Silent_p.L348L|GPR1_uc010fue.3_Silent_p.L348L|GPR1_uc010fuf.3_Silent_p.L348L	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	348						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGGAGACACAGATTCTTGGTT	0.428000														27			17		0	0	0.004007	0	0
AP2M1	1173	broad.mit.edu	37	3	183898969	183898969	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr3:183898969T>C	uc021xig.1	+	5	705	c.662T>C	c.(661-663)gTt>gCt	p.V221A	AP2M1_uc003fmw.3_Missense_Mutation_p.V219A|AP2M1_uc021xif.1_Missense_Mutation_p.V37A|AP2M1_uc011bqy.2_Missense_Mutation_p.V91A|AP2M1_uc011bqz.2_Missense_Mutation_p.V37A	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	221	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACAAGATTGTTATTGAAAAG	0.562000														91			69		0	0	0.014410	0	0
ZNF317	57693	broad.mit.edu	37	19	9271676	9271676	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:9271676G>A	uc002mku.3	+	6	1660	c.1355G>A	c.(1354-1356)gGg>gAg	p.G452E	ZNF317_uc002mkv.3_Missense_Mutation_p.G311E|ZNF317_uc002mkw.3_Missense_Mutation_p.G420E|ZNF317_uc002mkx.3_Missense_Mutation_p.G367E|ZNF317_uc002mky.3_Missense_Mutation_p.G335E	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GATCTCTGCGGGAAAGCTTTC	0.547000														35			18		0	0	0.007413	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57463170	57463170	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr16:57463170C>T	uc002ell.1	-	8	1022	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CIAPIN1_uc002elm.1_Missense_Mutation_p.R271H	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN	Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA.	284					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GCTGGCACAGCGGAAGGCATC	0.532000														26			31		0	0	0.015359	0	0
FDXACB1	91893	broad.mit.edu	37	11	111749725	111749725	+	Silent	SNP	A	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr11:111749725A>G	uc001pmc.4	-	0	457	c.132T>C	c.(130-132)gaT>gaC	p.D44D	ALG9_uc010rwo.2_5'UTR|FDXACB1_uc009yyi.3_5'UTR|C11orf1_uc001pmd.3_5'Flank|C11orf1_uc001pme.3_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	44					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AGGCCAGTGGATCCCGAGCCA	0.667000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			8		0	0	0.004482	0	0
SFPQ	6421	broad.mit.edu	37	1	35658464	35658464	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:35658464G>T	uc001bys.3	-	0	280	c.187C>A	c.(187-189)Ccg>Acg	p.P63T		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	63	Gln/Glu/Pro-rich.|Poly-Pro.				DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGTGGAGGCGGTGGCGGGATC	0.711000			T	TFE3	papillary renal cell									9			4		0.00024832	0.000256506	0.009096	1	0
HMGB4	127540	broad.mit.edu	37	1	34329977	34329977	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:34329977C>T	uc021oky.1	+	0	185	c.185C>T	c.(184-186)gCc>gTc	p.A62V	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.A62V|HMGB4_uc001bxq.3_5'UTR	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	62						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAATATGAAGCCCTGGCCAAA	0.463000														72			49		0	0	0.014410	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407885	28407885	+	Silent	SNP	G	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:28407885G>C	uc002het.3	+	16	3504	c.3312G>C	c.(3310-3312)ctG>ctC	p.L1104L	EFCAB5_uc010cse.3_Silent_p.L859L|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1104							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTCATTCCTGGCTCTGCCTC	0.438000														32			19		0	0	0.012319	0	0
KIAA1033	23325	broad.mit.edu	37	12	105527569	105527569	+	Silent	SNP	C	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:105527569C>G	uc010swr.2	+	13	1308	c.1221C>G	c.(1219-1221)gtC>gtG	p.V407V	KIAA1033_uc001tld.3_Silent_p.V407V|KIAA1033_uc010sws.2_Silent_p.V219V	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	407					endosome transport	WASH complex		p.Y406Y(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CTTACTACGTCTTTGTGAGCT	0.323000														71			27		0	0	0.005443	0	0
FAM55C	91775	broad.mit.edu	37	3	101520832	101520832	+	Splice_Site	SNP	A	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr3:101520832A>T	uc003dvn.3	+	5	1485	c.848_splice	c.e5+1	p.S283_splice	FAM55C_uc010hpn.3_Splice_Site_p.S283_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	283						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						TTTCTTCCAGAGGTATGTACT	0.443000														83			54		0	0	0.014410	0	0
MITF	4286	broad.mit.edu	37	3	69928532	69928532	+	Nonsense_Mutation	SNP	A	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr3:69928532A>T	uc003dnz.3	+	1	515	c.352A>T	c.(352-354)Aag>Tag	p.K118*	MITF_uc011bgb.2_Nonsense_Mutation_p.K66*|MITF_uc003doa.3_Nonsense_Mutation_p.K117*|MITF_uc003dob.3_Nonsense_Mutation_p.K102*|MITF_uc003doc.1_Non-coding_Transcript	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	118					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GGAAGTCCTTAAGGTACGTGA	0.478000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							15			17		0	0	0.006122	0	0
C18orf34	374864	broad.mit.edu	37	18	30926327	30926327	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr18:30926327T>C	uc010xbr.1	-	7	648	c.506A>G	c.(505-507)gAg>gGg	p.E169G	C18orf34_uc002kxn.2_Missense_Mutation_p.E169G|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E169G|C18orf34_uc002kxp.3_Missense_Mutation_p.E169G	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	169										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ACGAATGGCCTCTGAGAGCAA	0.343000														40			21		0	0	0.003330	0	0
ZNF543	125919	broad.mit.edu	37	19	57839968	57839968	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:57839968G>A	uc002qoi.2	+	3	1495	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGCGAGAGTGCAGACCTCAT	0.512000														39			29		0	0	0.010818	0	0
AL117485	0	broad.mit.edu	37	22	18844745	18844745	+	RNA	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr22:18844745C>T	uc002zoe.3	+	3		c.1999C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GTTCCCACACCTCACTTTTCA	0.572000														10			4		0	0	0.009096	0	0
CLCN7	1186	broad.mit.edu	37	16	1505793	1505793	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr16:1505793C>T	uc002clv.2	-	10	1030	c.920G>A	c.(919-921)gGg>gAg	p.G307E	CLCN7_uc002clw.2_Missense_Mutation_p.G283E	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	307						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GAACAGGACCCCACCTGGAAG	0.642000														28			34		0	0	0.006230	0	0
MRPL17	63875	broad.mit.edu	37	11	6703594	6703594	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr11:6703594G>A	uc001men.2	-	2	388	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_022061	NP_071344	Q9NRX2	RM17_HUMAN	Homo sapiens mitochondrial ribosomal protein L17 (MRPL17), nuclear gene encoding mitochondrial protein, mRNA.	95					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGTACCGAGGGGCCAGTACT	0.473000														73			39		0	0	0.008740	0	0
BAK1	578	broad.mit.edu	37	6	33543199	33543199	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr6:33543199G>A	uc003oes.3	-	3	526	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	BAK1_uc003oer.3_Missense_Mutation_p.R6W|BAK1_uc003oet.3_Non-coding_Transcript|BAK1_uc010jvb.3_Missense_Mutation_p.R76W|BAK1_uc003oeu.3_Missense_Mutation_p.R17W|BAK1_uc011drj.1_Missense_Mutation_p.R76W	NM_001188	NP_001179	Q16611	BAK_HUMAN	Homo sapiens BCL2-antagonist/killer 1 (BAK1), mRNA.	76					activation of pro-apoptotic gene products|cellular response to UV|cellular response to mechanical stimulus|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCGAGCTGCCGTCCCACCTGC	0.617000														62			5		0	0	0.014758	0	0
MPP1	4354	broad.mit.edu	37	X	154033610	154033610	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chrX:154033610G>T	uc004fmp.2	-	0	193	c.39C>A	c.(37-39)agC>agA	p.S13R	MPP1_uc011mzv.2_5'UTR|MPP1_uc010nvg.2_Missense_Mutation_p.S13R|MPP1_uc011mzw.2_Missense_Mutation_p.S13R|MPP1_uc010nvh.2_Missense_Mutation_p.S13R	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	13					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCGTGTGCATGCTGCCCCCAC	0.667000														0			4		2.0095e-06	2.09881e-06	0.001984	1	0
HELZ	9931	broad.mit.edu	37	17	65214853	65214853	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:65214853T>G	uc010wqk.2	-	3	255	c.68A>C	c.(67-69)gAa>gCa	p.E23A	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.E23A|HELZ_uc010des.1_Missense_Mutation_p.E23A	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAGGGCCATTTCATAGTCCTG	0.473000														94			29		0	0	0.010818	0	0
COG1	9382	broad.mit.edu	37	17	71199203	71199203	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:71199203C>A	uc002jjg.3	+	7	2174	c.2138C>A	c.(2137-2139)gCc>gAc	p.A713D	COG1_uc002jjf.1_Missense_Mutation_p.A713D|COG1_uc002jjh.3_Missense_Mutation_p.A713D	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	713					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGGCCACAGCCACCAGCTGG	0.512000														27			48		9.57592e-29	1.13941e-28	0.014410	1	0
SS18	6760	broad.mit.edu	37	18	23670483	23670483	+	Silent	SNP	A	G	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr18:23670483A>G	uc002kvm.3	-	0	129	c.51T>C	c.(49-51)acT>acC	p.T17T	SS18_uc002kvn.3_Silent_p.T17T|SS18_uc010xbf.2_5'UTR|SS18_uc010xbg.2_5'UTR|SS18_uc010xbh.2_5'UTR|SS18_uc010xbi.2_Intron|SS18_uc010dlz.1_5'UTR	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	17	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TCGCAGCGGGAGTGATCTCCC	0.687000			T	"""SSX1,  SSX2"""	synovial sarcoma									5			3		0	0	0.009096	0	0
LILRB1	10859	broad.mit.edu	37	19	55144006	55144006	+	Silent	SNP	C	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:55144006C>A	uc002qgj.3	+	6	1093	c.753C>A	c.(751-753)ggC>ggA	p.G251G	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.G251G|LILRB1_uc002qgk.3_Silent_p.G251G|LILRB1_uc002qgm.3_Silent_p.G251G|LILRB1_uc010erq.3_Silent_p.G251G|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	251	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGATGCTGGCTACAACAGAT	0.572000										HNSCC(37;0.09)				58			36		2.2871e-25	2.62179e-25	0.007835	1	0
HMCN1	83872	broad.mit.edu	37	1	186083139	186083139	+	Silent	SNP	G	A	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:186083139G>A	uc001grq.1	+	72	11389	c.11160G>A	c.(11158-11160)caG>caA	p.Q3720Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3720	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P3719P(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGGCCCCCAGAGCCTTGTAA	0.423000														114			62		0	0	0.014410	0	0
KIF5A	3798	broad.mit.edu	37	12	57975209	57975209	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:57975209C>T	uc001sor.1	+	24	2975	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	KIF5A_uc010srr.1_Missense_Mutation_p.R834W	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	923	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAACCCGTCCGGCCTGGCCA	0.547000														57			46		0	0	0.011902	0	0
RBM44	375316	broad.mit.edu	37	2	238722326	238722326	+	Splice_Site	SNP	G	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr2:238722326G>T	uc002vxi.4	+	2	208	c.76_splice	c.e2+1	p.D26_splice		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	25							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CTCCAAAAAGGTAAGGGTCTA	0.448000														12			13		6.72482e-11	7.43686e-11	0.003163	1	0
LIX1L	128077	broad.mit.edu	37	1	145497429	145497430	+	Frame_Shift_Ins	INS	-	T	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:145497429_145497430insT	uc001enr.3	+	3	708_709	c.634_635insT	c.(634-636)attfs	p.I212fs		NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN	Homo sapiens Lix1 homolog (mouse)-like (LIX1L), mRNA.	212										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAATACAGGGATTGGTGCCTTC	0.450													---	28	---	---	15	---					
BAI3	577	broad.mit.edu	37	6	69666026	69666027	+	Frame_Shift_Ins	INS	-	A	A	rs141698131		TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr6:69666026_69666027insA	uc010kak.3	+	5	1582_1583	c.1306_1307insA	c.(1306-1308)gaafs	p.E436fs	BAI3_uc003pev.4_Frame_Shift_Ins_p.E436fs	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	436	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGAGGCTCCGAATGCAGAGGG	0.554													---	31	---	---	22	---					
MANSC1	54682	broad.mit.edu	37	12	12483592	12483592	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:12483592delT	uc001rai.1	-	3	923	c.665delA	c.(664-666)aatfs	p.N222fs	MANSC1_uc010shm.1_Frame_Shift_Del_p.N156fs|MANSC1_uc001raj.1_Frame_Shift_Del_p.N188fs	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	222						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CGCACTCACATTTTCAGGCAG	0.502													---	72	---	---	37	---					
ABCB9	23457	broad.mit.edu	37	12	123429030	123429030	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:123429030delA	uc001udm.4	-	6	1598	c.1288delT	c.(1288-1290)tacfs	p.Y430fs	ABCB9_uc021rfo.1_Frame_Shift_Del_p.Y430fs|ABCB9_uc021rfp.1_Frame_Shift_Del_p.Y430fs|ABCB9_uc010tai.2_Frame_Shift_Del_p.Y37fs|ABCB9_uc001udo.4_Intron|ABCB9_uc010taj.2_Frame_Shift_Del_p.Y430fs|ABCB9_uc001udq.3_Frame_Shift_Del_p.Y212fs|ABCB9_uc021rfq.1_Frame_Shift_Del_p.Y430fs|ABCB9_uc001udr.3_Frame_Shift_Del_p.Y430fs	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	430	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		TGGCCCCCGTAGTAGAGGATG	0.592													---	126	---	---	58	---					
FAM82A2	55177	broad.mit.edu	37	15	41037304	41037305	+	Frame_Shift_Ins	INS	-	GCACT	GCACT			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr15:41037304_41037305insGCACT	uc001zmp.1	-	4	862_863	c.677_678insAGTGC	c.(676-678)gccfs	p.A226fs	FAM82A2_uc001zmo.1_Frame_Shift_Ins_p.A226fs|FAM82A2_uc001zmq.1_Frame_Shift_Ins_p.A226fs	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	226					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CAGCCTCCAGGGCACTGGAGGC	0.599													---	47	---	---	16	---					
DUOX1	53905	broad.mit.edu	37	15	45453182	45453182	+	Frame_Shift_Del	DEL	C	-	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr15:45453182delC	uc001zus.1	+	29	4196	c.3850delC	c.(3850-3852)cccfs	p.P1284fs	DUOX1_uc001zut.1_Frame_Shift_Del_p.P1284fs|DUOX1_uc010bee.1_Frame_Shift_Del_p.P664fs	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1284	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GGAGCTGCTGCCCTCAGGTAC	0.617													---	39	---	---	22	---					
KRT32	3882	broad.mit.edu	37	17	39622089	39622090	+	Frame_Shift_Ins	INS	-	C	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:39622089_39622090insC	uc002hwr.3	-	2	704_705	c.643_644insG	c.(643-645)gacfs	p.D215fs		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	215	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GGCCTCCAGGTCAGCCTTGCAC	0.604													---	62	---	---	85	---					
ITGB4	3691	broad.mit.edu	37	17	73752854	73752855	+	In_Frame_Ins	INS	-	GCTGCA	GCTGCA			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:73752854_73752855insGCTGCA	uc002jpg.3	+	36	5154_5155	c.4967_4968insGCTGCA	c.(4966-4968)tcg>tcGCTGCAg	p.1658_1659insLQ	ITGB4_uc002jph.3_In_Frame_Ins_p.1588_1589insLQ|ITGB4_uc002jpi.4_In_Frame_Ins_p.1588_1589insLQ|ITGB4_uc002jpj.3_In_Frame_Ins_p.1641_1642insLQ	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1658	Fibronectin type-III 4.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCCCAGACTCGCTGCAGCTGA	0.658													---	113	---	---	35	---					
EXOC3L2	90332	broad.mit.edu	37	19	45720794	45720794	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:45720794delG	uc002pay.1	-	7	852	c.811delC	c.(811-813)cggfs	p.R271fs		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	271										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		ACCAGCCGCCGGAACAGCCTC	0.701													---	9	---	---	10	---					
KDM6A	7403	broad.mit.edu	37	X	44870257	44870257	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chrX:44870257delT	uc011mkz.2	+	4	811	c.436delT	c.(436-438)tttfs	p.F146fs	KDM6A_uc022bvi.1_5'UTR|KDM6A_uc010nhk.2_Frame_Shift_Del_p.F146fs|KDM6A_uc004dge.4_Frame_Shift_Del_p.F146fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.F146fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.F146fs|KDM6A_uc011mlc.2_5'UTR|KDM6A_uc022bvj.1_Frame_Shift_Del_p.F146fs|KDM6A_uc022bvk.1_Non-coding_Transcript	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	146					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTATAATGCATTTCAGTGGTA	0.323			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								---	7	---	---	13	---					
