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
EYA3	2140	broad.mit.edu	37	1	28339654	28339654	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr1:28339654G>A	uc001bpi.1	-	9	902	c.737C>T	c.(736-738)GCG>GTG	p.A246V	EYA3_uc010ofs.1_Missense_Mutation_p.A193V|EYA3_uc010oft.1_Missense_Mutation_p.A200V|EYA3_uc001bpj.2_Missense_Mutation_p.A200V|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	246					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AGGTGCAGGCGCCATGACACT	0.512000												
RCSD1	92241	broad.mit.edu	37	1	167666869	167666869	+	Silent	SNP	A	A	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr1:167666869A>C	uc001gem.2	+	6	1195	c.1008A>C	c.(1006-1008)ACA>ACC	p.T336T	RCSD1_uc010pli.1_Silent_p.T306T	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	336										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					GCCAAGAAACAAAGAAGCTGG	0.557000												
HMCN1	83872	broad.mit.edu	37	1	186107009	186107009	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr1:186107009C>T	uc001grq.1	+	89	14058	c.13829C>T	c.(13828-13830)ACC>ATC	p.T4610I	HMCN1_uc001grs.1_Missense_Mutation_p.T179I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4610	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAAACCAGGACCAGGACTTGC	0.502000												
PRKCQ	5588	broad.mit.edu	37	10	6525445	6525445	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr10:6525445T>C	uc001ijj.1	-	11	1211	c.1136A>G	c.(1135-1137)GAT>GGT	p.D379G	PRKCQ_uc009xim.1_Missense_Mutation_p.D379G|PRKCQ_uc001iji.1_Missense_Mutation_p.D412G|PRKCQ_uc009xin.1_Missense_Mutation_p.D343G|PRKCQ_uc010qax.1_Missense_Mutation_p.D254G	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	379					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CAAGATAAAATCCTCAATTTT	0.433000												
ST8SIA6	338596	broad.mit.edu	37	10	17365124	17365124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr10:17365124C>T	uc001ipd.2	-	7	668	c.668G>A	c.(667-669)AGT>AAT	p.S223N	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	223	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						AACATCTTTACTAACATCTCC	0.313000												
KCNJ11	3767	broad.mit.edu	37	11	17408516	17408516	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr11:17408516T>C	uc001mna.2	-	1	1691	c.1123A>G	c.(1123-1125)ATG>GTG	p.M375V	KCNJ11_uc001mnb.3_Missense_Mutation_p.M288V	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	375						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GCCTTGGCCATGGGCACGCTG	0.652000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NOP2	4839	broad.mit.edu	37	12	6675951	6675951	+	Silent	SNP	A	A	G			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr12:6675951A>G	uc001qpk.1	-	2	185	c.141T>C	c.(139-141)GCT>GCC	p.A47A	NOP2_uc001qph.1_Silent_p.A47A|NOP2_uc001qpi.1_Silent_p.A47A|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Silent_p.A47A|NOP2_uc001qpm.1_Silent_p.A47A			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	47					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						ACCTCTTTCGAGCACGACTAG	0.393000												
PRKD1	5587	broad.mit.edu	37	14	30066697	30066697	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:30066697C>A	uc001wqh.2	-	16	2615	c.2434G>T	c.(2434-2436)GCC>TCC	p.A812S		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	812	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAGATATTACCTTCATGAGAT	0.279000												
PAX9	5083	broad.mit.edu	37	14	37132197	37132197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:37132197C>T	uc001wty.3	+	3	817	c.100C>T	c.(100-102)CAA>TAA	p.Q34*		NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	34	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGAACTGGCCCAACTGGGCAT	0.642000												
KCNK13	56659	broad.mit.edu	37	14	90651085	90651085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:90651085G>A	uc001xye.1	+	2	1407	c.965G>A	c.(964-966)CGC>CAC	p.R322H		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	322	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GTCCGGAACCGCTGCAACATC	0.612000												
TDRD9	122402	broad.mit.edu	37	14	104481153	104481153	+	Missense_Mutation	SNP	T	T	C	rs148349259	byFrequency	TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:104481153T>C	uc001yom.3	+	21	2228	c.2198T>C	c.(2197-2199)ATA>ACA	p.I733T	TDRD9_uc001yon.3_Missense_Mutation_p.I471T	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	733					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAAGAGTATATATATAAGCAG	0.393000												
MYEF2	50804	broad.mit.edu	37	15	48441243	48441243	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:48441243T>A	uc001zwi.3	-	16	1749	c.1625A>T	c.(1624-1626)AAA>ATA	p.K542I	MYEF2_uc001zwg.3_Missense_Mutation_p.K80I|MYEF2_uc001zwh.3_Missense_Mutation_p.K130I|MYEF2_uc001zwj.3_Missense_Mutation_p.K518I	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	542	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CTGACTGAATTTCTCTTTTAG	0.299000												
THSD4	79875	broad.mit.edu	37	15	72040794	72040794	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:72040794G>A	uc002atb.1	+	13	2355	c.2276G>A	c.(2275-2277)CGT>CAT	p.R759H	THSD4_uc002ate.2_Missense_Mutation_p.R399H	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	759	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CAGAGGACCCGTGATGTGAAG	0.557000												
SCAMP5	192683	broad.mit.edu	37	15	75308977	75308977	+	Silent	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:75308977G>A	uc002azk.1	+	4	342	c.180G>A	c.(178-180)GCG>GCA	p.A60A	SCAMP5_uc002azl.1_Silent_p.A60A|SCAMP5_uc002azm.1_Silent_p.A60A|SCAMP5_uc002azn.1_Silent_p.A60A|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	60	Helical; (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						GCTGTCTCGCGTGGCTGATCG	0.607000												
CHRNB4	1143	broad.mit.edu	37	15	78921738	78921738	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:78921738C>T	uc002bed.1	-	5	1021	c.909G>A	c.(907-909)ATG>ATA	p.M303I	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.M121I	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	303	Helical; (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						TGACCAGCACCATGGTGAACA	0.592000												
ZSCAN2	54993	broad.mit.edu	37	15	85164300	85164300	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr15:85164300A>C	uc002bkr.2	+	3	1100	c.874A>C	c.(874-876)AAC>CAC	p.N292H	ZSCAN2_uc010bmz.1_Missense_Mutation_p.N290H|ZSCAN2_uc010bna.2_Missense_Mutation_p.N142H|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	292	C2H2-type 3.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCGGAGTGCCAACCTCATAAC	0.522000												
ITGAM	3684	broad.mit.edu	37	16	31283290	31283290	+	Silent	SNP	G	G	A	rs41499844		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr16:31283290G>A	uc002ebq.2	+	7	779	c.681G>A	c.(679-681)ACG>ACA	p.T227T	ITGAM_uc002ebr.2_Silent_p.T227T	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	227	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GGACACACACGGCCACGGGCA	0.522000												
HYDIN	54768	broad.mit.edu	37	16	71218824	71218824	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr16:71218824T>G	uc002ezr.2	-	3	333	c.205A>C	c.(205-207)ATG>CTG	p.M69L	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.M69L|HYDIN_uc010vmc.1_Missense_Mutation_p.M86L|HYDIN_uc010vmd.1_Missense_Mutation_p.M96L|HYDIN_uc002ezw.3_Missense_Mutation_p.M86L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	69										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GGTCGGCACATCAAACGTGTT	0.453000												
ZZEF1	23140	broad.mit.edu	37	17	3977531	3977531	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:3977531C>T	uc002fxe.2	-	24	3662	c.3598G>A	c.(3598-3600)GTG>ATG	p.V1200M		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1200							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCCAAGACACGGCAACATCG	0.592000												
TNFRSF13B	23495	broad.mit.edu	37	17	16852283	16852283	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:16852283G>A	uc002gqs.1	-	3	227	c.214C>T	c.(214-216)CGC>TGC	p.R72C	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.R26C|TNFRSF13B_uc010vwu.1_Missense_Mutation_p.R72C	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	72	Extracellular (Potential).|TNFR-Cys 2.				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						TGCTCCTTGCGGCAGCTGAGT	0.498000									IgA_Deficiency_Selective			
NEK8	284086	broad.mit.edu	37	17	27062001	27062001	+	Silent	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:27062001C>T	uc002hcp.2	+	3	465	c.465C>T	c.(463-465)AGC>AGT	p.S155S		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	155	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					AGATCCTTAGCAGCAAGAGCA	0.582000												
FAM117A	81558	broad.mit.edu	37	17	47788765	47788765	+	Missense_Mutation	SNP	G	G	C	rs138923537		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:47788765G>C	uc002ipk.2	-	8	1283	c.1214C>G	c.(1213-1215)CCG>CGG	p.P405R	FAM117A_uc010wlz.1_Missense_Mutation_p.P133R	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	405	Pro-rich.									ovary(1)	1						GGGAGATCCCGGGTTTGAGGG	0.647000												
GMIP	51291	broad.mit.edu	37	19	19746378	19746378	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr19:19746378T>G	uc002nnd.2	-	15	1523	c.1406A>C	c.(1405-1407)GAC>GCC	p.D469A	GMIP_uc010xrb.1_Missense_Mutation_p.D443A|GMIP_uc010xrc.1_Missense_Mutation_p.D440A	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	469					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GTCTCCCAGGTCTGCAGGGAG	0.552000												
STRN	6801	broad.mit.edu	37	2	37082457	37082457	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:37082457C>T	uc002rpn.2	-	15	1885	c.1876G>A	c.(1876-1878)GAC>AAC	p.D626N	STRN_uc010ezx.2_Missense_Mutation_p.D589N	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	626					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGGCTCGGGTCACTGCTCACT	0.393000												
SNRNP200	23020	broad.mit.edu	37	2	96950142	96950142	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:96950142T>C	uc002svu.2	-	31	4432	c.4346A>G	c.(4345-4347)AAC>AGC	p.N1449S	SNRNP200_uc002svt.2_Missense_Mutation_p.N59S|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_5'UTR	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1449	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CACGAAGAGGTTGATGTTCTG	0.557000												
LRP1B	53353	broad.mit.edu	37	2	141128795	141128795	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:141128795A>G	uc002tvj.1	-	70	11800	c.10828T>C	c.(10828-10830)TCT>CCT	p.S3610P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3610	Extracellular (Potential).|LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTTCAAAGATGCTGAAATA	0.294000										TSP Lung(27;0.18)		
SCN1A	6323	broad.mit.edu	37	2	166900312	166900312	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:166900312G>A	uc010zcz.1	-	11	1928	c.1910C>T	c.(1909-1911)GCG>GTG	p.A637V	SCN1A_uc002udo.3_Missense_Mutation_p.A506V|SCN1A_uc010fpk.2_Missense_Mutation_p.A506V	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	637						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTTCCCATTCGCTGGAAACAC	0.542000												
PPIG	9360	broad.mit.edu	37	2	170493840	170493840	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:170493840A>G	uc002uez.2	+	14	2292	c.2072A>G	c.(2071-2073)AAA>AGA	p.K691R	PPIG_uc010fpx.2_Missense_Mutation_p.K676R|PPIG_uc010fpy.2_Missense_Mutation_p.K684R|PPIG_uc002ufb.2_Missense_Mutation_p.K691R|PPIG_uc002ufd.2_Missense_Mutation_p.K688R	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	691					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	CCCTTCTCAAAAATAAAACAA	0.353000												
STAT1	6772	broad.mit.edu	37	2	191851578	191851578	+	Splice_Site	SNP	A	A	G			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:191851578A>G	uc002usj.2	-	14	1609	c.1221_splice	c.e14+1	p.L407_splice	STAT1_uc010fse.1_Splice_Site_p.L407_splice|STAT1_uc002usk.2_Splice_Site_p.L407_splice|STAT1_uc002usl.2_Splice_Site_p.L409_splice|STAT1_uc010fsf.1_Splice_Site_p.L219_splice	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription						activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGATGTCCCTACCAGGTGCCG	0.483000												
DNPEP	23549	broad.mit.edu	37	2	220251022	220251022	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr2:220251022G>A	uc010zlg.1	-	5	551	c.469C>T	c.(469-471)CGC>TGC	p.R157C	DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Missense_Mutation_p.R149C|DNPEP_uc002vlf.1_Missense_Mutation_p.R135C|DNPEP_uc002vlh.2_Missense_Mutation_p.R96C|DNPEP_uc002vli.1_Missense_Mutation_p.R96C|DNPEP_uc002vlj.2_Missense_Mutation_p.R139C|uc002vlk.1_5'Flank	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	139					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACAATGACGCGTCCAGCCAGA	0.627000												
KCNB1	3745	broad.mit.edu	37	20	47990303	47990303	+	Silent	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr20:47990303G>A	uc002xur.1	-	2	1958	c.1794C>T	c.(1792-1794)TTC>TTT	p.F598F	KCNB1_uc002xus.1_Silent_p.F598F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	598	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGCCTCAGGGAAGTCTGTGG	0.592000												
KCNB1	3745	broad.mit.edu	37	20	47990462	47990462	+	Silent	SNP	G	G	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr20:47990462G>C	uc002xur.1	-	2	1799	c.1635C>G	c.(1633-1635)CTC>CTG	p.L545L	KCNB1_uc002xus.1_Silent_p.L545L	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	545	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTTGGTATTGAGGATGGGTT	0.517000												
MYT1	4661	broad.mit.edu	37	20	62850293	62850293	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr20:62850293G>T	uc002yii.2	+	12	2240	c.1876G>T	c.(1876-1878)GCA>TCA	p.A626S	MYT1_uc002yih.2_Missense_Mutation_p.A328S|MYT1_uc002yij.2_Missense_Mutation_p.A285S	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	626					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCCGAGGCTGCACACATGGC	0.602000												
WDR6	11180	broad.mit.edu	37	3	49051915	49051915	+	Silent	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr3:49051915G>A	uc003cvj.2	+	4	2994	c.2856G>A	c.(2854-2856)GAG>GAA	p.E952E	WDR6_uc011bby.1_Silent_p.E400E|WDR6_uc010hkn.2_Silent_p.E896E|WDR6_uc011bbz.1_Silent_p.E871E	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	922	WD 14.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TTACACACGAGGCACCCAACC	0.552000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
STAG1	10274	broad.mit.edu	37	3	136096591	136096591	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr3:136096591C>T	uc003era.1	-	23	2573	c.2281G>A	c.(2281-2283)GAT>AAT	p.D761N	STAG1_uc003erb.1_Missense_Mutation_p.D761N|STAG1_uc003erc.1_Missense_Mutation_p.D535N	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	761					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						ACCAACAAATCCTCCTGTAAG	0.368000												
IL13	3596	broad.mit.edu	37	5	131995159	131995159	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr5:131995159G>A	uc003kxj.1	+	2	238	c.224G>A	c.(223-225)GGC>GAC	p.G75D		NM_002188	NP_002179	P35225	IL13_HUMAN	interleukin 13 precursor	75					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			ovary(1)|skin(1)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGACAGCTGGCATGGTAAGG	0.592000												
PKHD1	5314	broad.mit.edu	37	6	51900507	51900507	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr6:51900507G>T	uc003pah.1	-	28	3386	c.3110C>A	c.(3109-3111)GCC>GAC	p.A1037D	PKHD1_uc003pai.2_Missense_Mutation_p.A1037D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1037	IPT/TIG 5.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCGGATGGTGGCCCAGAGCCC	0.408000												
CARD11	84433	broad.mit.edu	37	7	2956965	2956965	+	Missense_Mutation	SNP	G	G	A	rs142828146		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:2956965G>A	uc003smv.2	-	20	3066	c.2662C>T	c.(2662-2664)CGT>TGT	p.R888C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	888					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R881C(1)		haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCGAGAGACGGGGGCTGACC	0.557000			Mis		DLBCL							
HOXA6	3203	broad.mit.edu	37	7	27185319	27185319	+	Silent	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:27185319C>T	uc003syo.1	-	2	660	c.660G>A	c.(658-660)ACG>ACA	p.T220T	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CGCTGGGCTGCGTGGAATTGA	0.612000												
GTF2IRD1	9569	broad.mit.edu	37	7	73922530	73922530	+	Silent	SNP	C	C	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:73922530C>A	uc003uaq.2	+	2	513	c.120C>A	c.(118-120)TCC>TCA	p.S40S	GTF2IRD1_uc010lbq.2_Silent_p.S40S|GTF2IRD1_uc003uap.2_Silent_p.S40S|GTF2IRD1_uc003uar.1_Silent_p.S40S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	40						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CCTTAGACTCCATGGTGAGTG	0.612000												
GTF2IRD1	9569	broad.mit.edu	37	7	73933930	73933930	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:73933930C>T	uc003uaq.2	+	6	1190	c.797C>T	c.(796-798)GCC>GTC	p.A266V	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.A298V|GTF2IRD1_uc003uap.2_Missense_Mutation_p.A266V|GTF2IRD1_uc003uar.1_Missense_Mutation_p.A266V	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	266						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CCCAACCACGCCATCCGAGAG	0.692000												
PCLO	27445	broad.mit.edu	37	7	82582618	82582618	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:82582618C>T	uc003uhx.2	-	5	7940	c.7651G>A	c.(7651-7653)GAT>AAT	p.D2551N	PCLO_uc003uhv.2_Missense_Mutation_p.D2551N|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2482					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AATTTATAATCTGCTGAAGTC	0.398000												
AKAP9	10142	broad.mit.edu	37	7	91709233	91709233	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:91709233G>C	uc003ulg.2	+	31	8011	c.7786G>C	c.(7786-7788)GAG>CAG	p.E2596Q	AKAP9_uc003ulf.2_Missense_Mutation_p.E2588Q|AKAP9_uc003uli.2_Missense_Mutation_p.E2219Q|AKAP9_uc003ulj.2_Missense_Mutation_p.E366Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2608	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGAGAAGATGAGTTGGGGTC	0.318000			T	BRAF	papillary thyroid							
ZNF3	7551	broad.mit.edu	37	7	99672845	99672845	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:99672845G>A	uc003usq.2	-	5	491	c.184C>T	c.(184-186)CGG>TGG	p.R62W	ZNF3_uc003usp.2_Missense_Mutation_p.R62W|ZNF3_uc003usr.2_Missense_Mutation_p.R62W|ZNF3_uc010lgj.2_Missense_Mutation_p.R26W|ZNF3_uc003uss.2_Missense_Mutation_p.R69W|ZNF3_uc003ust.3_Missense_Mutation_p.R62W	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	62	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CACTCCTTCCGGATGAAGTAC	0.488000												
SND1	27044	broad.mit.edu	37	7	127326707	127326707	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:127326707G>T	uc003vmi.2	+	2	345	c.119G>T	c.(118-120)CGT>CTT	p.R40L		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	40	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GGTCAGCCTCGTGGTGGGCCT	0.567000												
OR2A12	346525	broad.mit.edu	37	7	143792959	143792959	+	Silent	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr7:143792959C>T	uc011kty.1	+	1	759	c.759C>T	c.(757-759)AGC>AGT	p.S253S		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					TCTTTGGCAGCGCCATTGTCA	0.562000												
ORM1	5004	broad.mit.edu	37	9	117087068	117087068	+	Splice_Site	SNP	A	A	T	rs112963597		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr9:117087068A>T	uc004bik.3	+	4	440	c.329_splice	c.e4-2	p.V110_splice	ORM1_uc011lxo.1_Splice_Site_p.V110_splice	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor						acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TTTCTCTTCCAGTGGGAGGCC	0.537000												
SARDH	1757	broad.mit.edu	37	9	136531865	136531865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr9:136531865C>T	uc004cep.3	-	20	2757	c.2623G>A	c.(2623-2625)GGT>AGT	p.G875S	SARDH_uc004ceo.2_Missense_Mutation_p.G875S|SARDH_uc011mdn.1_Missense_Mutation_p.G875S|SARDH_uc011mdo.1_Missense_Mutation_p.G707S|SARDH_uc004cen.2_Missense_Mutation_p.G325S	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	875					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCGGCCCACCGCTGGGGTCA	0.632000												
ARHGAP6	395	broad.mit.edu	37	X	11157185	11157185	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:11157185G>A	uc004cup.1	-	13	3596	c.2723C>T	c.(2722-2724)ACG>ATG	p.T908M	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.T705M|ARHGAP6_uc004cun.1_Missense_Mutation_p.T728M	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	908					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						TCCCTGGTCCGTGGGTGTCTC	0.706000												
ATP6AP2	10159	broad.mit.edu	37	X	40450529	40450529	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:40450529G>A	uc004det.2	+	3	314	c.212G>A	c.(211-213)CGT>CAT	p.R71H	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_5'UTR|ATP6AP2_uc011mkm.1_Missense_Mutation_p.R71H|ATP6AP2_uc011mkn.1_Missense_Mutation_p.R71H	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	71	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						CTGTTTCATCGTCCTCGGGCT	0.493000												
CHST7	56548	broad.mit.edu	37	X	46433919	46433919	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:46433919G>A	uc004dgt.2	+	1	728	c.553G>A	c.(553-555)GCC>ACC	p.A185T		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	185	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						cccggACACGGCCAATCTTAC	0.562000												
HEPH	9843	broad.mit.edu	37	X	65392442	65392442	+	Splice_Site	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:65392442G>A	uc011moz.1	+	3	481	c.421_splice	c.e3+1	p.G141_splice	HEPH_uc004dwn.2_Splice_Site_p.G141_splice|HEPH_uc004dwo.2_Splice_Site|HEPH_uc010nkr.2_Splice_Site_p.G141_splice|HEPH_uc011mpa.1_Splice_Site_p.G141_splice	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a						cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GACTCTGAAGGTAAACCATTC	0.443000												
PCDH11X	27328	broad.mit.edu	37	X	91873740	91873740	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:91873740G>C	uc004efk.1	+	7	4690	c.3845G>C	c.(3844-3846)TGG>TCG	p.W1282S	PCDH11X_uc004efl.1_Missense_Mutation_p.W1272S|PCDH11X_uc004efo.1_Missense_Mutation_p.W1245S|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.W1274S|PCDH11X_uc004efn.1_Missense_Mutation_p.W1264S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1282	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CAGCAAGGTTGGGTGCAAGGT	0.507000												
PGRMC1	10857	broad.mit.edu	37	X	118370534	118370534	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:118370534C>T	uc004erb.2	+	1	324	c.208C>T	c.(208-210)CGG>TGG	p.R70W	PGRMC1_uc011mts.1_Missense_Mutation_p.R70W	NM_006667	NP_006658	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	70	Cytoplasmic (Potential).					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding				0						CCGCCTCAAGCGGCGCGACTT	0.687000												
UPF3B	65109	broad.mit.edu	37	X	118972014	118972014	+	Silent	SNP	T	T	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:118972014T>C	uc004erz.1	-	10	1085	c.1008A>G	c.(1006-1008)AGA>AGG	p.R336R	UPF3B_uc004esa.1_Silent_p.R323R	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	336	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						CATCTTCAGGTCTGCATGAAA	0.478000												
ODZ1	10178	broad.mit.edu	37	X	123556374	123556374	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:123556374C>T	uc004euj.2	-	23	4262	c.4198G>A	c.(4198-4200)GCA>ACA	p.A1400T	ODZ1_uc011muj.1_Missense_Mutation_p.A1406T|ODZ1_uc010nqy.2_Missense_Mutation_p.A1407T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1400	NHL 3.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GGGCGTCCTGCGATGATCCGA	0.493000												
GPC4	2239	broad.mit.edu	37	X	132548987	132548987	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:132548987G>A	uc004exc.1	-	1	219	c.7C>T	c.(7-9)CGG>TGG	p.R3W	GPC4_uc011mvg.1_5'Flank	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	3					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					AAGCCGAACCGTGCCATGGTG	0.701000												
MTM1	4534	broad.mit.edu	37	X	149787547	149787547	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chrX:149787547G>T	uc004fef.3	+	6	455	c.379G>T	c.(379-381)GGC>TGC	p.G127C	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.G90C|MTM1_uc011mxz.1_Missense_Mutation_p.G12C|MTM1_uc010nte.2_Intron	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	127					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACAGGAAGGCCACAGCAG	0.468000												
TP53	7157	broad.mit.edu	37	17	7579395	7579396	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:7579395_7579396insC	uc002gim.2	-	4	485_486	c.291_292insG	c.(289-294)GTCCCTfs	p.V97fs	TP53_uc002gig.1_Frame_Shift_Ins_p.V97fs|TP53_uc002gih.2_Frame_Shift_Ins_p.V97fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.V97fs|TP53_uc010cni.1_Frame_Shift_Ins_p.V97fs|TP53_uc002gij.2_Frame_Shift_Ins_p.V97fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.V58fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.V112fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	97_98	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.P98S(4)|p.S99fs*48(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.V97A(1)|p.V97I(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TTCTGGGAAGGGACAGAAGATG	0.639		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)		
UBR5	51366	broad.mit.edu	37	8	103284921	103284922	+	Frame_Shift_Ins	INS	-	-	TA	rs146909587		TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr8:103284920_103284921T>TTA	uc003ykr.2	-	47	7264_7265	c.6809_6810A>TAA	c.(6808-6810)acafs	p.T2270fs	UBR5_uc003yks.2_Frame_Shift_Ins_p.T2270fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2270					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGCCATTGGTGTAGTAGCACA	0.426												
CEND1	51286	broad.mit.edu	37	11	788451	788453	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr11:788450_788452CCTT>C	uc021qbp.1	-	0	125_127	c.125_127AAGG>G	c.(124-129)aaggag>aGag	p.42_43KE>R	CEND1_uc001lrh.1_In_Frame_Del_p.42_43KE>R	NM_016564	NP_057648	Q8N111	CEND_HUMAN	Homo sapiens cell cycle exit and neuronal differentiation 1 (CEND1), mRNA.	42						integral to membrane				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGGGGCCTCCTTCTTCGAGGG	0.680												
HECTD1	25831	broad.mit.edu	37	14	31575869	31575874	+	In_Frame_Del	DEL	AAGTGG	AAGTGG	-			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr14:31575868_31575873TAAGTGG>T	uc001wrc.1	-	37	7694_7699	c.7205_7210CCACTTA>A	c.(7204-7212)ccacttagc>cAgc	p.2402_2404PLS>Q	HECTD1_uc001wra.1_In_Frame_Del_p.528_530PLS>Q|HECTD1_uc001wrb.1_In_Frame_Del_p.528_530PLS>Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	2402	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCCTCTATGCTAAGTGGAGGCCCAGA	0.369												
TP53	7157	broad.mit.edu	37	17	7579396	7579397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8486-01A-31D-2394-08	TCGA-BR-8486-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7cdaf6-211e-4eb8-a70e-1153d69c45e4	0fa8cee4-2d26-4caf-9da2-96047854f29f	g.chr17:7579395_7579396G>GC	uc002gim.2	-	3	485_486	c.291_292C>GC	c.(289-294)gtccctfs	p.V97fs	TP53_uc002gig.1_Frame_Shift_Ins_p.V97fs|TP53_uc002gih.3_Frame_Shift_Ins_p.V97fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Ins_p.V97fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.V97fs|TP53_uc002gij.2_Frame_Shift_Ins_p.V97fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Frame_Shift_Ins_p.V58fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.V112fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	97	Interaction with WWOX.		V -> A (in a sporadic cancer; somatic mutation).|V -> F (in a sporadic cancer; somatic mutation).|V -> I (in familial cancer not matching LFS; germline mutation and in a sporadic cancer; 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.0?(8)|p.P98S(8)|p.V97V(4)|p.S99fs*48(3)|p.Q100fs*37(3)|p.S96F(3)|p.G59fs*23(3)|p.P98L(3)|p.P98fs*26(2)|p.V73fs*9(1)|p.S96fs*53(1)|p.S96P(1)|p.V97A(1)|p.S96fs*52(1)|p.S96_V97insAAPAPAPSWPLSSS(1)|p.V97I(1)|p.W91fs*13(1)|p.S96C(1)|p.P13fs*18(1)|p.S33fs*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)		TTCTGGGAAGGGACAGAAGATG	0.639		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)