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
C17orf74	201243	broad.mit.edu	37	17	7329926	7329926	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7329926T>G	uc002ggw.3	+	2	689	c.616T>G	c.(616-618)Ttt>Gtt	p.F206V	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	206						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGGGGCGGGTTTTATCAGAG	0.617000														16			4		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	A	A	rs28934573		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7577559G>A	uc002gim.2	-	6	916	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_uc002gig.1_Missense_Mutation_p.S241F|TP53_uc002gih.3_Missense_Mutation_p.S241F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109F|TP53_uc010cnf.1_Missense_Mutation_p.S109F|TP53_uc002gii.1_Missense_Mutation_p.S109F|TP53_uc010cni.1_Missense_Mutation_p.S241F|TP53_uc010cnh.1_Missense_Mutation_p.S241F|TP53_uc002gij.2_Missense_Mutation_p.S241F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148F|TP53_uc002gio.2_Missense_Mutation_p.S109F|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				51			3		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099424	133099424	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:133099424C>A	uc003epi.3	+	3	1139	c.869C>A	c.(868-870)aCc>aAc	p.T290N	TMEM108_uc003eph.3_Missense_Mutation_p.T290N|TMEM108_uc003epj.1_Missense_Mutation_p.T290N|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	290						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGTGGTTCTACCTTCACCAGC	0.647000														81			34		1.58521e-26	1.95102e-26	1	1	0
EML2	24139	broad.mit.edu	37	19	46124887	46124887	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:46124887G>A	uc010xxm.2	-	12	1526	c.1453C>T	c.(1453-1455)Cgt>Tgt	p.R485C	EML2_uc002pcn.3_Missense_Mutation_p.R284C|EML2_uc002pcp.3_Missense_Mutation_p.R168C|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.R431C|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.R284C|EML2_uc010ekj.3_Silent_p.T250T	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	284					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.V484L(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGTGTGATACGGTTCCCACCT	0.662000														41			3		0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99418744	99418744	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:99418744G>A	uc001dsb.3	-	2	725	c.503C>T	c.(502-504)aCa>aTa	p.T168I	LPPR5_uc001dsc.3_Missense_Mutation_p.T168I	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	168						integral to membrane	hydrolase activity										GATGAATTGTGTATACTGCTG	0.463000														92			5		0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238206	69238206	+	Silent	SNP	A	G	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr15:69238206A>G	uc002arn.2	+	1	487	c.333A>G	c.(331-333)ggA>ggG	p.G111G	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	111					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CGGAAATAGGAAAGAAAAAAC	0.398000														89			4		0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75314901	75314901	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr4:75314901T>G	uc021xpc.1	+	2	658	c.448T>G	c.(448-450)Ttt>Gtt	p.F150V		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	150	EGF-like.				G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			TAATGCAGAATTTCAAAATTT	0.313000														330			10		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092631	1092631	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:1092631C>T	uc001lsx.1	+	29	4477	c.4450C>T	c.(4450-4452)Ccc>Tcc	p.P1484S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1484	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	aaccaccactcccaGCCCTCC	0.627000														122			4		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162042	47162042	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:47162042T>C	uc003cqv.3	-	2	4137	c.4051A>G	c.(4051-4053)Aaa>Gaa	p.K1351E	SETD2_uc003cqs.3_Missense_Mutation_p.K1362E	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCCTTGTCTTTCTGAAGGGAT	0.383000			"""N, F, S, Mis"""		clear cell renal carcinoma									123			4		0	0	1	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2168965	2168965	+	Silent	SNP	C	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:2168965C>T	uc001lvm.3	-	3	539	c.480G>A	c.(478-480)tcG>tcA	p.S160S	IGF2_uc001lvh.3_5'UTR|IGF2_uc001lvi.3_Non-coding_Transcript|IGF2-AS_uc001lvk.2_Non-coding_Transcript|IGF2-AS_uc010qxi.2_3'UTR|IGF2-AS_uc001lvl.2_Non-coding_Transcript	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	Homo sapiens INS-IGF2 readthrough (INS-IGF2), transcript variant 2, mRNA.	160					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GAGCTGGCAGCGATTCAGAGC	0.647000														44			16		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77513733	77513733	+	Silent	SNP	C	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr18:77513733C>T	uc002lnh.2	+	12	2976	c.2829C>T	c.(2827-2829)agC>agT	p.S943S	CTDP1_uc002lni.2_3'UTR|CTDP1_uc010drd.2_3'UTR|CTDP1_uc021ult.1_Silent_p.S824S	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	943					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGGGCAGCAGCTCCGAGGCCG	0.642000														154			41		0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713337	42713337	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr6:42713337G>A	uc003osl.3	-	0	548	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_003192	NP_003183	Q15814	TBCC_HUMAN	Homo sapiens tubulin folding cofactor C (TBCC), mRNA.	159					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	GTPase activity|chaperone binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			ACTGCCGGGGGGATGCCAGGA	0.637000														21			17		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61415632	61415632	+	Silent	SNP	G	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr2:61415632G>T	uc002sbe.3	-	79	10268	c.10246C>A	c.(10246-10248)Cga>Aga	p.R3416R	USP34_uc002sbd.3_Silent_p.R218R	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3416					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACTTCCATTCGGTATTCTTTA	0.403000														134			4		0.00024832	0.00024832	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2813651	2813651	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:2813651C>A	uc002crk.3	+	10	3671	c.3122C>A	c.(3121-3123)tCt>tAt	p.S1041Y	SRRM2_uc002crj.1_Missense_Mutation_p.S945Y|SRRM2_uc002crl.1_Missense_Mutation_p.S1041Y|SRRM2_uc010bsu.1_Missense_Mutation_p.S945Y	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1041	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGAGTAAAATCTAGCACACCA	0.458000														81			31		1.75199e-13	2.00227e-13	1	1	0
C1GALT1	56913	broad.mit.edu	37	7	7278070	7278070	+	Silent	SNP	A	G	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:7278070A>G	uc003srb.2	+	2	628	c.405A>G	c.(403-405)aaA>aaG	p.K135K	C1GALT1_uc003sra.3_Silent_p.K135K|C1GALT1_uc010kto.2_Silent_p.K135K	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	135					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGGGACTGAAAACCAAAGAAG	0.378000														177			4		0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40124870	40124870	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:40124870C>A	uc001cdq.1	-	5	1030	c.1030G>T	c.(1030-1032)Gcc>Tcc	p.A344S		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	344					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACATGGGCGGCCACAGTGCCC	0.597000														45			4		1.23904e-05	1.27901e-05	1	1	0
ZNF98	148198	broad.mit.edu	37	19	22575373	22575373	+	Missense_Mutation	SNP	C	T	T	rs140852501	by1000genomes	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:22575373C>T	uc002nqt.2	-	3	786	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGTTTGAGGCCTCATTATAG	0.383000														321			6		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155002604	155002604	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:155002604A>G	uc001fgm.3	-	6	1213	c.1133T>C	c.(1132-1134)gTg>gCg	p.V378A	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	378						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCGGTAGCACTGTGGGCAG	0.622000														55			55		0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182572462	182572462	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:182572462G>T	uc001gpl.4	-	1	211	c.57C>A	c.(55-57)ttC>ttA	p.F19L	RGS16_uc010pnv.1_Missense_Mutation_p.F19L	NM_002928	NP_002919	O15492	RGS16_HUMAN	Homo sapiens regulator of G-protein signaling 16 (RGS16), mRNA.	19					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GACGTGTCTTGAACTCTTTGG	0.483000														78			12		3.07112e-06	3.38882e-06	1	1	0
PKM2	5315	broad.mit.edu	37	15	72492092	72492092	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr15:72492092C>T	uc002aty.2	-	10	1779	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	GRAMD2_uc002atq.3_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_5'UTR|PKM2_uc010bit.1_Missense_Mutation_p.A504T|PKM2_uc010uki.2_Missense_Mutation_p.A573T|PKM2_uc002atx.2_Missense_Mutation_p.A499T|PKM2_uc002atw.2_Missense_Mutation_p.A499T|PKM2_uc010ukj.2_Missense_Mutation_p.A484T|PKM2_uc010ukk.2_Missense_Mutation_p.A425T|PKM2_uc002atv.2_Missense_Mutation_p.A534T	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	499	Interaction with POU5F1.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	AAGCCTCGGGCCTTGCCTGGA	0.587000											OREG0023252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			4		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32635093	32635093	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:32635093G>A	uc001mtv.3	-	15	2815	c.2771C>T	c.(2770-2772)tCg>tTg	p.S924L		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	924										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCAAGGGGTCGAACTGCTCGC	0.378000														200			11		0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421307	39421307	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr22:39421307T>C	uc003awt.4	+	2	850	c.443T>C	c.(442-444)cTc>cCc	p.L148P	APOBEC3D_uc021wpq.1_Missense_Mutation_p.L148P|APOBEC3D_uc010gxu.3_Intron|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	148					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGGGTGCTCCTCAGGCTGCAT	0.582000														83			4		0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077627	81077627	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:81077627G>A	uc002ffz.1	+	3	1542	c.1524G>A	c.(1522-1524)atG>atA	p.M508I	ATMIN_uc002fga.2_Missense_Mutation_p.M350I|ATMIN_uc010vnn.1_Missense_Mutation_p.M279I|ATMIN_uc002fgb.1_Missense_Mutation_p.M350I	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	508					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ATGTACAGATGGACCAAGCTG	0.433000														167			75		0	0	1	0	0
TMEM205	374882	broad.mit.edu	37	19	11453585	11453585	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:11453585C>T	uc002mra.2	-	3	783	c.476G>A	c.(475-477)cGc>cAc	p.R159H	TMEM205_uc002mrb.2_Missense_Mutation_p.R159H|TMEM205_uc002mqz.2_Missense_Mutation_p.R159H	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	159						integral to membrane				endometrium(1)|lung(1)	2						CCCATGGTAGCGGAAGAAATT	0.607000														132			8		0	0	1	0	0
DNAJB9	4189	broad.mit.edu	37	7	108212318	108212318	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:108212318G>T	uc003vfn.3	+	1	517	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	THAP5_uc003vfl.3_5'Flank|THAP5_uc003vfm.3_5'Flank	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 9 (DNAJB9), mRNA.	50	J.				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TCACAAGTTGGCCATGAAGTA	0.413000														148			7		3.03607e-14	3.59831e-14	1	1	0
AASS	10157	broad.mit.edu	37	7	121755170	121755170	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:121755170A>G	uc003vka.3	-	7	1097	c.1001T>C	c.(1000-1002)tTc>tCc	p.F334S	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.F334S|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	334	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCAGGTGAGAACTTGCCCGG	0.488000														108			4		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321650	56321650	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:56321650T>G	uc010ygf.2	-	4	1037	c.326A>C	c.(325-327)gAa>gCa	p.E109A	NLRP11_uc002qlz.3_Missense_Mutation_p.E10A|NLRP11_uc002qmb.3_Missense_Mutation_p.E10A|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	109							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGTGTGACTTTCCCATTGCAG	0.378000														99			65		0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31420078	31420078	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr14:31420078A>G	uc001wqu.2	-	3	749	c.533T>C	c.(532-534)cTt>cCt	p.L178P	STRN3_uc001wqv.2_Missense_Mutation_p.L178P|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	178	Calmodulin-binding (Potential).				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGTCTTAAAAGCTGTCTGCC	0.348000														63			4		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875280	247875280	+	Missense_Mutation	SNP	C	T	T	rs145498993		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:247875280C>T	uc001idj.1	-	0	778	c.778G>A	c.(778-780)Gtc>Atc	p.V260I		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAGGTGCGGACGTGAAGGAAA	0.532000														22			29		0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16633629	16633629	+	Silent	SNP	C	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:16633629C>T	uc003cba.3	-	9	1110	c.822G>A	c.(820-822)acG>acA	p.T274T	DAZL_uc003cbb.3_Silent_p.T254T	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	254					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity	p.T254T(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						AAGATACCACCGTTTGTATGC	0.363000														482			7		0	0	1	0	0
FAM43A	131583	broad.mit.edu	37	3	194407863	194407863	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:194407863G>T	uc003fuj.3	+	0	1242	c.308G>T	c.(307-309)gGc>gTc	p.G103V		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	Homo sapiens family with sequence similarity 43, member A (FAM43A), mRNA.	103										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		AGCGAGGCGGGCCGTCAGGGC	0.682000														61			5		1.23904e-05	1.27901e-05	1	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117887	117887	+	RNA	SNP	C	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chrGL000205.1:117887C>T	uc002kgk.4	+	0		c.1265C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TCTCAACGAACAAAACTACCA	0.522000														45			9		0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156777068	156777069	+	Frame_Shift_Ins	INS	-	T	T			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:156777068_156777069insT	uc009wsh.2	-	7	1241_1242	c.1101_1102insA	c.(1099-1104)cagcccfs	p.Q367fs	SH2D2A_uc001fqc.1_Frame_Shift_Ins_p.Q329fs|SH2D2A_uc001fqd.2_Frame_Shift_Ins_p.Q357fs|SH2D2A_uc001fqe.2_Frame_Shift_Ins_p.Q339fs|SH2D2A_uc010phs.1_Frame_Shift_Ins_p.Q357fs	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	357	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGGTGGGGGCTGGTGGGGCA	0.599													---	4	---	---	2	---					
SRD5A3	79644	broad.mit.edu	37	4	56212670	56212671	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr4:56212670_56212671insG	uc003hau.3	+	0	283_284	c.167_168insG	c.(166-168)aagfs	p.K56fs		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA.	56					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.K56K(2)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GGGAAAACCAAGTGTGGGGAGC	0.693													---	102	---	---	7	---					
TMEM196	256130	broad.mit.edu	37	7	19769017	19769017	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:19769017delT	uc011jyg.2	-	1	277	c.192delA	c.(190-192)aaafs	p.K64fs	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	70						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						CAAGTCCTGATTTTTTTTTGG	0.353													---	37	---	---	7	---					
COL9A3	1299	broad.mit.edu	37	20	61450635	61450636	+	Frame_Shift_Ins	INS	-	G	G	rs146260681		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr20:61450635_61450636insG	uc002ydm.3	+	3	248_249	c.245_246insG	c.(244-246)ccgfs	p.P82fs		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	82	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGGACTGCCGGGTGTGGATG	0.688													---	140	---	---	7	---					
