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
BTNL8	79908	broad.mit.edu	37	5	180377222	180377222	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:180377222G>A	uc003mmp.3	+	7	1415	c.1181G>A	c.(1180-1182)cGt>cAt	p.R394H	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Missense_Mutation_p.R269H|BTNL8_uc010jlm.3_Missense_Mutation_p.R278H|BTNL8_uc011dhh.2_Missense_Mutation_p.R210H	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	394	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTAAATCCCCGTTTTATCAGC	0.478000														177			6		0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49059954	49059954	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:49059954T>C	uc003cvq.3	+	1	757	c.253T>C	c.(253-255)Tcg>Ccg	p.S85P	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|MIR425_uc011bcb.1_5'Flank|NDUFAF3_uc003cvn.3_Missense_Mutation_p.S28P|MIR191_uc003cvo.1_5'Flank|NDUFAF3_uc003cvp.3_Missense_Mutation_p.S28P|NDUFAF3_uc003cvr.3_Missense_Mutation_p.S28P	NM_199069	NP_951056	Q9BU61	NDUF3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	85					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCTCCCGCACTCGGTGGTGCA	0.622000														85			4		0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868487	58868487	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:58868487C>T	uc002qsh.2	-	2	798	c.515G>A	c.(514-516)cGc>cAc	p.R172H	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.R172H|ZNF497_uc021vcw.1_Missense_Mutation_p.R172H|BC023201_uc002qsj.1_5'UTR|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGAGTGCGCGCGGAAGGCCTT	0.677000														63			30		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	A	A	rs55832599		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:7577139G>A	uc002gim.2	-	7	993	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135W|TP53_uc010cnf.1_Missense_Mutation_p.R135W|TP53_uc002gii.1_Missense_Mutation_p.R135W|TP53_uc010cni.1_Missense_Mutation_p.R267W|TP53_uc010cnh.1_Missense_Mutation_p.R267W|TP53_uc002gij.2_Missense_Mutation_p.R267W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.G266E(49)|p.R267W(48)|p.G266R(45)|p.G266V(36)|p.R267P(15)|p.G266*(13)|p.R267Q(10)|p.0?(8)|p.R267R(6)|p.G266fs*79(5)|p.G262_F270delGNLLGRNSF(4)|p.R267L(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.R267G(2)|p.L265_K305del41(2)|p.L265_R267delLGR(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267fs*78(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)		AAGCTGTTCCGTCCCAGTAGA	0.522000		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)				11			8		0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11340174	11340174	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:11340174C>T	uc003bwc.3	+	1	122	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ATG7_uc003bwd.3_Missense_Mutation_p.A2V|ATG7_uc011aum.2_Missense_Mutation_p.A2V	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	2					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAAATAATGGCGGCAGCTACG	0.408000														51			26		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1075670	1075670	+	Silent	SNP	C	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1075670C>T	uc001lsx.1	+	1	123	c.96C>T	c.(94-96)caC>caT	p.H32H		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	32						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)	CCCGAAACCACGGCCACAACG	0.652000														49			23		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117307845	117307845	+	Silent	SNP	G	A	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:117307845G>A	uc001prh.1	-	25	4895	c.4893C>T	c.(4891-4893)taC>taT	p.Y1631Y		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1571					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACTGCCATCGTAGTCCAGGG	0.592000														40			15		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900204	166900204	+	Missense_Mutation	SNP	A	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr2:166900204A>T	uc002udo.4	-	12	2245	c.2018T>A	c.(2017-2019)aTa>aAa	p.I673K	SCN1A_uc010fpk.3_Intron|SCN1A_uc021vsb.1_Intron	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	673						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T672K(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGGCTTATCTATTATCACCTC	0.473000														12			23		0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58004570	58004570	+	Missense_Mutation	SNP	A	C	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:58004570A>C	uc010ety.1	+	4	888	c.648A>C	c.(646-648)aaA>aaC	p.K216N	ZNF419_uc002qov.2_Missense_Mutation_p.K215N|ZNF419_uc010etz.1_Missense_Mutation_p.K203N|ZNF419_uc002qow.2_Missense_Mutation_p.K183N|ZNF419_uc010eua.1_Missense_Mutation_p.K202N|ZNF419_uc010eub.1_Missense_Mutation_p.K170N|ZNF419_uc010euc.1_Missense_Mutation_p.K169N	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TTGGTCAGAAATATTTACTTG	0.413000														72			40		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89668864	89668864	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr4:89668864G>T	uc003hse.1	-	17	2508	c.2300C>A	c.(2299-2301)cCc>cAc	p.P767H	FAM13A_uc003hsa.1_Missense_Mutation_p.P238H|FAM13A_uc003hsb.1_Missense_Mutation_p.P441H|FAM13A_uc003hsd.1_Missense_Mutation_p.P441H|FAM13A_uc003hsc.1_Missense_Mutation_p.P427H|FAM13A_uc011cdq.1_Missense_Mutation_p.P413H|FAM13A_uc003hsf.1_Missense_Mutation_p.P353H|FAM13A_uc003hsg.1_Missense_Mutation_p.P238H	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	767					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCAACACTGGGCTTTATTGC	0.493000														124			9		1.33987e-11	1.48874e-11	1	1	0
ZDHHC13	54503	broad.mit.edu	37	11	19170858	19170858	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:19170858T>C	uc001mpi.3	+	4	604	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	ZDHHC13_uc001mpj.3_Missense_Mutation_p.Y37H|Mir_340_uc021qes.1_5'Flank	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	167					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TATTATAGCATATCTCATCTC	0.408000														147			4		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61186805	61186805	+	Missense_Mutation	SNP	T	A	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr14:61186805T>A	uc001xfc.3	-	1	1282	c.1222A>T	c.(1222-1224)Act>Tct	p.T408S	SIX4_uc010app.1_Missense_Mutation_p.T400S	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	408						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGTATGTCAGTCATGGATATA	0.463000														89			49		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561017	44561017	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr18:44561017G>T	uc002lcr.1	-	0	972	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	207					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.L206L(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGGACACAGCAGAGGCCCG	0.687000														45			20		1.22574e-08	1.31329e-08	1	1	0
DNAH12	201625	broad.mit.edu	37	3	57431084	57431084	+	Silent	SNP	G	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:57431084G>T	uc003dit.2	-	27	4354	c.4173C>A	c.(4171-4173)ctC>ctA	p.L1391L		NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	1391	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CGTAAGAGTAGAGGGAGATTT	0.363000														78			4		0.000602214	0.000602214	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171560737	171560737	+	Silent	SNP	A	G	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:171560737A>G	uc010pmg.2	+	33	8471	c.8205A>G	c.(8203-8205)agA>agG	p.R2735R	PRRC2C_uc010pmh.2_Silent_p.R1647R|PRRC2C_uc010pmi.2_Silent_p.R651R|PRRC2C_uc010pmj.2_Silent_p.R267R	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	323							protein C-terminus binding										CAAAGCAGAGAGCAGAGGTTC	0.418000														153			5		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34043016	34043016	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:34043016C>T	uc001bxm.1	-	48	7633	c.7456G>A	c.(7456-7458)Ggg>Agg	p.G2486R	CSMD2_uc001bxn.1_Missense_Mutation_p.G2488R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2488	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGAGCCCCCGGGCTGGGTG	0.642000														18			4		0	0	1	0	0
C22orf28	51493	broad.mit.edu	37	22	32797733	32797733	+	Splice_Site	SNP	C	A	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:32797733C>A	uc003amm.2	-	5	628	c.497_splice	c.e5+1	p.K166_splice	C22orf28_uc011ama.1_Intron	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	166					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						TGTGCTCTTACTTGGCATTCA	0.473000														19			14		1.15088e-07	1.19056e-07	1	1	0
HNF1A	6927	broad.mit.edu	37	12	121426736	121426736	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:121426736C>T	uc001tzg.3	+	1	450	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.H143Y|HNF1A_uc001tzf.3_Missense_Mutation_p.H143Y|HNF1A_uc010szn.2_Missense_Mutation_p.H143Y|HNF1A_uc021rfa.1_Missense_Mutation_p.H143Y|HNF1A_uc021rfb.1_Intron|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	143	Interaction with DNA.		H -> Y (in MODY3; expected to interfere with DNA binding).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|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 dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAACCAGTCCCACCTGTCCCA	0.632000									Hepatic Adenoma, Familial Clustering of					52			3		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123075242	123075242	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:123075242A>G	uc001ucv.3	+	40	4251	c.4088A>G	c.(4087-4089)aAg>aGg	p.K1363R	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1363					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AATCTCTGGAAGCTCATAGAT	0.403000														103			5		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480872	140480872	+	Silent	SNP	C	T	T	rs148121148		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:140480872C>T	uc003lio.3	+	0	639	c.639C>T	c.(637-639)acC>acT	p.T213T	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	213	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAACGCTCACCGCGCTGGACG	0.562000														51			26		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105033	14105033	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:14105033C>T	uc001avi.3	+	7	1599	c.743C>T	c.(742-744)cCa>cTa	p.P248L	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P248L|PRDM2_uc021ogk.1_Intron|PRDM2_uc001avk.3_Missense_Mutation_p.P47L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	248						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCCTGGGAGCCACAGCCAGAA	0.592000														18			27		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868798	7868798	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:7868798A>G	uc001qtf.3	+	2	410	c.332A>G	c.(331-333)gAa>gGa	p.E111G		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	111						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ATGAAGCATGAAAGAAGACCA	0.294000														211			4		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117670	117670	+	RNA	SNP	G	A	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chrGL000205.1:117670G>A	uc002kgk.4	+	0		c.1048G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTCAGAGCGTGGAGCAGAT	0.607000														20			3		0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9869291	9869291	+	Missense_Mutation	SNP	G	C	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:9869291G>C	uc002mmb.1	-	5	993	c.462C>G	c.(460-462)aaC>aaG	p.N154K	ZNF846_uc021uoq.1_Non-coding_Transcript|ZNF846_uc010dww.3_Missense_Mutation_p.N25K|ZNF846_uc002mmc.1_Missense_Mutation_p.N25K	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TATGAGGAAAGTTCTTTCTTA	0.368000														96			44		0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122768108	122768108	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:122768108A>G	uc003pyy.1	-	8	1107	c.1037T>C	c.(1036-1038)cTa>cCa	p.L346P		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	Homo sapiens serine incorporator 1 (SERINC1), mRNA.	346					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ATCACTTGTTAGAGTCAGTTT	0.368000														66			4		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6702730	6702730	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:6702730T>C	uc001qpo.3	-	15	2530	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	CHD4_uc001qpn.3_Missense_Mutation_p.N782S|CHD4_uc001qpp.3_Missense_Mutation_p.N786S	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	789	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCGCTCCCAGTTGATGATGGT	0.532000														49			20		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1558987	1558987	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr20:1558987G>A	uc010gai.3	-	1	529	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	SIRPB1_uc002wfk.4_Missense_Mutation_p.R144C	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCGCGCACAGACAGC	0.552000														91			5		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:7577532G>A	uc002gim.2	-	6	943	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_uc002gig.1_Missense_Mutation_p.P250L|TP53_uc002gih.3_Missense_Mutation_p.P250L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P118L|TP53_uc010cnf.1_Missense_Mutation_p.P118L|TP53_uc002gii.1_Missense_Mutation_p.P118L|TP53_uc010cni.1_Missense_Mutation_p.P250L|TP53_uc010cnh.1_Missense_Mutation_p.P250L|TP53_uc002gij.2_Missense_Mutation_p.P250L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P157L|TP53_uc002gio.2_Missense_Mutation_p.P118L|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249S(326)|p.P250L(86)|p.R249W(31)|p.R249M(31)|p.R249G(28)|p.R249K(16)|p.R249T(16)|p.P250S(12)|p.0?(8)|p.P250H(7)|p.P250F(6)|p.R249fs*96(6)|p.R249R(6)|p.?(5)|p.P250N(4)|p.M246_P250delMNRRP(4)|p.P250P(4)|p.P250_L252delPIL(4)|p.P250Q(4)|p.P250A(2)|p.N247_P250delNRRP(2)|p.R249fs*14(2)|p.R249_I251delRPI(2)|p.P250_T253delPILT(2)|p.R248_P250delRRP(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250delRP(2)|p.P250_I251insXXXXXX(1)|p.R249fs*15(1)|p.P250T(1)|p.R249_P250insR(1)|p.N247_R249delNRR(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*94(1)|p.R249_P250>SS(1)|p.P250_I251insX(1)|p.P250fs*14(1)|p.R249fs*19(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)		GGTGAGGATGGGCCTCCGGTT	0.577000		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)				50			3		0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019957	20019957	+	Silent	SNP	G	A	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr14:20019957G>A	uc001vwc.3	-	0	316	c.264C>T	c.(262-264)gaC>gaT	p.D88D	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	88								p.D88D(3)		endometrium(4)|kidney(1)|lung(4)	9						TCATAGCAGAGTCGTCGTGGT	0.627000														188			5		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49656872	49656872	+	Silent	SNP	C	T	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:49656872C>T	uc002pmv.3	-	0	1810	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	541					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcctccttgtctt	0.612000														39			3		0	0	1	0	0
WIPF3	644150	broad.mit.edu	37	7	29924145	29924146	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr7:29924145_29924146insC	uc022aaz.1	+	4	1217_1218	c.1035_1036insC	c.(1033-1038)ttgcccfs	p.L345fs	WIPF3_uc003taj.2_Frame_Shift_Ins_p.L345fs	NM_001080529	NP_001073998	B8ZZV2	B8ZZV2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA.	345										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CGCAGGCCTTGCCCGCCCCGCC	0.673													---	38	---	---	7	---					
SIRT3	23410	broad.mit.edu	37	11	216703	216706	+	Frame_Shift_Del	DEL	TGTC	-	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:216703_216706delTGTC	uc001lok.4	-	6	1226_1229	c.1192_1195delGACA	c.(1192-1197)gacaaafs	p.D398fs	SIRT3_uc010qvl.1_5'Flank|SIRT3_uc001loj.4_Frame_Shift_Del_p.D256fs|SIRT3_uc010qvm.2_Frame_Shift_Del_p.D352fs|SIRT3_uc010qvn.2_Frame_Shift_Del_p.D317fs|SIRT3_uc010qvo.2_Frame_Shift_Del_p.D416fs|SIRT3_uc010qvp.2_Frame_Shift_Del_p.D344fs|SIRT3_uc010qvq.2_Frame_Shift_Del_p.D256fs	NM_012239	NP_001017524	Q9NTG7	SIRT3_HUMAN	Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	398					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TCATCCTATTTGTCTGGTCCATCA	0.490													---	74	---	---	38	---					
FAM98B	283742	broad.mit.edu	37	15	38776624	38776626	+	In_Frame_Del	DEL	AGA	-	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:38776624_38776626delAGA	uc001zkc.3	+	7	1101_1103	c.1066_1068delAGA	c.(1066-1068)agadel	p.R356del		NM_173611	NP_775882	Q52LJ0	FA98B_HUMAN	Homo sapiens family with sequence similarity 98, member B (FAM98B), transcript variant 1, mRNA.	0						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		tgggggtgggagaggtggctggg	0.680													---	4	---	---	2	---					
PTOV1	53635	broad.mit.edu	37	19	50360994	50360996	+	In_Frame_Del	DEL	CAA	-	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:50360994_50360996delCAA	uc002pqf.1	+	6	929_931	c.759_761delCAA	c.(757-762)gtcaac>gtc	p.N255del	PTOV1_uc002pqb.4_In_Frame_Del_p.N223del|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	255	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCCAGATCGTCAACAACAAGTTT	0.616													---	180	---	---	9	---					
