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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PTCH2	8643	broad.mit.edu	37	1	45292686	45292686	+	Silent	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:45292686G>T	uc010olf.1	-	17	2595	c.2583C>A	c.(2581-2583)ACC>ACA	p.T861T	PTCH2_uc010olg.1_Silent_p.T559T	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	861	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCACCCACACGGTCAGCCCCA	0.622		NA							Basal_Cell_Nevus_syndrome				39	189					4.14e-20	4.78e-20	1	0
SETDB1	9869	broad.mit.edu	37	1	150923168	150923168	+	Silent	SNP	A	A	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:150923168A>G	uc001evu.2	+	13	2005	c.1815A>G	c.(1813-1815)CTA>CTG	p.L605L	SETDB1_uc009wmf.2_Silent_p.L606L|SETDB1_uc001evv.2_Silent_p.L605L|SETDB1_uc009wmg.1_Silent_p.L605L	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	605	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCCGTTACTATATGACTTCC	0.517		NA											37	38					0	0	0	0
C1orf125	126859	broad.mit.edu	37	1	179497484	179497484	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:179497484A>T	uc001gmo.2	+	23	2760	c.2633A>T	c.(2632-2634)AAG>ATG	p.K878M	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K804M|C1orf125_uc009wxh.2_RNA	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	878	Glu-rich.							p.K878M(1)			0						TCTACAGAGAAGGAAAAACTC	0.428		NA											13	38					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197111689	197111689	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:197111689A>T	uc001gtu.2	-	3	1950	c.1693T>A	c.(1693-1695)TCT>ACT	p.S565T	ASPM_uc001gtv.2_Missense_Mutation_p.S565T|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	565					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GTTGTCGAAGAGGGTGTTACC	0.343		NA											27	83					0	0	0	0
CD55	1604	broad.mit.edu	37	1	207504538	207504538	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:207504538G>A	uc001hfq.3	+	6	1044	c.750G>A	c.(748-750)ACG>ACA	p.T250T	CD55_uc001hfp.3_Silent_p.T250T|CD55_uc001hfr.3_Silent_p.T250T|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Silent_p.T186T|CD55_uc009xce.2_Silent_p.T250T|CD55_uc009xcg.2_5'UTR	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	250	Sushi 4.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			ovary(1)	1					Chloramphenicol(DB00446)	AGTCTGTAACGTATGCATGTA	0.383		NA											33	78					0	0	0	0
OR2T11	127077	broad.mit.edu	37	1	248789870	248789870	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:248789870G>T	uc001ier.1	-	1	560	c.560C>A	c.(559-561)GCA>GAA	p.A187E		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGACGTGTCTGCACAGGCCAG	0.468		NA											16	72					2.35e-11	2.64e-11	1	0
ZMYND11	10771	broad.mit.edu	37	10	294963	294963	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:294963G>C	uc010pzt.1	+	14	2049	c.1621G>C	c.(1621-1623)GAA>CAA	p.E541Q	ZMYND11_uc001ifk.2_Missense_Mutation_p.E540Q|ZMYND11_uc010pzu.1_Missense_Mutation_p.E541Q|ZMYND11_uc010pzv.1_Missense_Mutation_p.E486Q|ZMYND11_uc010pzw.1_Missense_Mutation_p.E456Q|ZMYND11_uc001ifm.2_Missense_Mutation_p.E487Q|ZMYND11_uc010pzx.1_Missense_Mutation_p.E541Q|ZMYND11_uc001ifn.2_Missense_Mutation_p.E487Q|ZMYND11_uc009xhg.2_Missense_Mutation_p.E524Q|ZMYND11_uc009xhh.2_Missense_Mutation_p.E415Q|ZMYND11_uc010pzy.1_Missense_Mutation_p.E393Q	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	501	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAATTTGTAGAAGAAATCAA	0.388		NA											5	35					0	0	0	0
C10orf140	387640	broad.mit.edu	37	10	21804807	21804807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:21804807G>A	uc009xkd.2	-	4	4198	c.1945C>T	c.(1945-1947)CCC>TCC	p.P649S	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	568						nucleus	nucleotide binding			ovary(1)	1						TGCGAAGAGGGCAAATCCGTA	0.438		NA											3	40					0	0	0	0
BMS1	9790	broad.mit.edu	37	10	43316394	43316394	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:43316394C>T	uc001jaj.2	+	18	3321	c.2963C>T	c.(2962-2964)CCA>CTA	p.P988L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	988					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						CCTATCACTCCACAGGGAACT	0.358		NA											30	23					0	0	0	0
FJX1	24147	broad.mit.edu	37	11	35641069	35641069	+	Silent	SNP	C	C	T	rs77030854		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:35641069C>T	uc001mwh.2	+	1	1335	c.885C>T	c.(883-885)TTC>TTT	p.F295F		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	295						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TAATCCTTTTCGACTACCTGA	0.647		NA											7	38					0	0	0	0
MS4A2	2206	broad.mit.edu	37	11	59860935	59860935	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:59860935C>T	uc001nop.2	+	5	543	c.441C>T	c.(439-441)ATC>ATT	p.I147I	MS4A2_uc009ymu.2_Silent_p.I147I	NM_000139	NP_000130	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member	147	Helical; (Potential).				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			ovary(1)	1		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAATTACCATCCTGATCATCA	0.478		NA											28	83					0	0	0	0
NRXN2	9379	broad.mit.edu	37	11	64419615	64419615	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:64419615C>T	uc001oar.2	-	14	2867	c.2428G>A	c.(2428-2430)GAA>AAA	p.E810K	NRXN2_uc001oas.2_Missense_Mutation_p.E770K|NRXN2_uc001oaq.2_Missense_Mutation_p.E477K	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane		p.E810K(1)		upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						AACAGCGTTTCGGGGCCTTTA	0.577		NA											6	42					0	0	0	0
GNB3	2784	broad.mit.edu	37	12	6954826	6954826	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:6954826A>G	uc001qrd.2	+	10	1181	c.776A>G	c.(775-777)CAG>CGG	p.Q259R	GNB3_uc001qrc.2_Missense_Mutation_p.Q215R|GNB3_uc009zfe.2_Missense_Mutation_p.Q258R|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	259					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						CGGGCAGACCAGGAGCTGATC	0.617		NA											69	117					0	0	0	0
TUBA1B	10376	broad.mit.edu	37	12	49522572	49522572	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:49522572G>A	uc001rto.2	-	3	522	c.420C>T	c.(418-420)CCC>CCT	p.P140P	TUBA1B_uc001rtk.2_Silent_p.P140P|TUBA1B_uc001rtl.2_Silent_p.P140P|TUBA1B_uc001rtn.2_Silent_p.P22P|TUBA1B_uc001rtm.2_Silent_p.P175P|uc010smg.1_Missense_Mutation_p.G135R	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	175					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0						TGGAAACCTGGGGTGCTGGGT	0.537		NA											4	27					0	0	0	0
CPM	1368	broad.mit.edu	37	12	69264160	69264160	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:69264160C>T	uc001sup.2	-	5	512	c.451G>A	c.(451-453)GAC>AAC	p.D151N	CPM_uc001sur.2_Missense_Mutation_p.D151N|CPM_uc001suq.2_Missense_Mutation_p.D151N	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	151					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CGATTCAAGTCATACTGGTTA	0.388		NA											23	24					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78400845	78400845	+	Silent	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:78400845C>A	uc001syp.2	+	8	1700	c.1527C>A	c.(1525-1527)GGC>GGA	p.G509G	NAV3_uc001syo.2_Silent_p.G509G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	509						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TCCCTAAGGGCAGCAAGACAA	0.423		NA								HNSCC(70;0.22)			14	40					7.93e-07	8.64e-07	1	0
RNASE13	440163	broad.mit.edu	37	14	21502302	21502302	+	Missense_Mutation	SNP	C	C	T	rs146892669	by1000genomes	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:21502302C>T	uc001vzj.2	-	2	284	c.146G>A	c.(145-147)CGG>CAG	p.R49Q	NDRG2_uc010tll.1_Intron	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 precursor	49						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.R49Q(1)		upper_aerodigestive_tract(1)	1	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		ACAATAGCCCCGGAAACCCTT	0.468		NA											78	44					0	0	0	0
FSCB	84075	broad.mit.edu	37	14	44975348	44975348	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:44975348C>T	uc001wvn.2	-	1	1152	c.843G>A	c.(841-843)GCG>GCA	p.A281A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GTCTGGGCTCCGCTTTAGCAG	0.478		NA											18	40					0	0	0	0
AHSA1	10598	broad.mit.edu	37	14	77926055	77926055	+	Silent	SNP	G	G	A	rs146186794	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:77926055G>A	uc001xtw.2	+	2	337	c.177G>A	c.(175-177)ACG>ACA	p.T59T	VIPAR_uc001xtt.1_5'Flank|VIPAR_uc001xtu.1_5'Flank|VIPAR_uc010tvj.1_5'Flank|VIPAR_uc001xtv.1_5'Flank|AHSA1_uc010tvk.1_Silent_p.T59T	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	59					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTGAGGTGACGGAAGTGAGTA	0.448		NA											74	56					0	0	0	0
TLN2	83660	broad.mit.edu	37	15	63054621	63054621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr15:63054621G>A	uc002alb.3	+	36	4930	c.4930G>A	c.(4930-4932)GAC>AAC	p.D1644N	TLN2_uc002alc.3_Missense_Mutation_p.D37N|TLN2_uc002ald.2_Missense_Mutation_p.D37N	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1644					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D1644N(1)		ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TACAGTGTCCGACTCCATCAA	0.557		NA											39	91					0	0	0	0
HEXA	3073	broad.mit.edu	37	15	72641550	72641550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr15:72641550T>C	uc002aun.3	-	8	1063	c.856A>G	c.(856-858)ACC>GCC	p.T286A	uc002aug.2_Intron|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.T297A|HEXA_uc002auo.3_Missense_Mutation_p.T149A|HEXA_uc010bix.2_Missense_Mutation_p.T286A|HEXA_uc010biy.2_Missense_Mutation_p.T149A|HEXA_uc010uko.1_Missense_Mutation_p.T112A|HEXA_uc010biz.1_RNA	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	286					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	p.T286A(1)		ovary(3)|upper_aerodigestive_tract(1)	4						GGTCCAAAGGTGCCAGAGGGC	0.443		NA											25	25					0	0	0	0
IRX6	79190	broad.mit.edu	37	16	55360387	55360387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:55360387C>T	uc002ehy.2	+	2	718	c.185C>T	c.(184-186)CCG>CTG	p.P62L	IRX6_uc002ehx.2_Missense_Mutation_p.P62L|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	62						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						AGTGCGCGACCGGAGCTGGGC	0.667		NA											7	23					0	0	0	0
PRSS54	221191	broad.mit.edu	37	16	58324903	58324903	+	Missense_Mutation	SNP	C	C	T	rs142664927	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:58324903C>T	uc002enf.2	-	4	618	c.223G>A	c.(223-225)GAG>AAG	p.E75K	PRSS54_uc002eng.2_Missense_Mutation_p.E75K|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	75	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.E75K(1)		upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACCCAGAACTCGCTCAGGATG	0.647		NA											15	54					0	0	0	0
HYDIN	54768	broad.mit.edu	37	16	71025263	71025263	+	Silent	SNP	T	T	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:71025263T>C	uc002ezr.2	-	25	3950	c.3822A>G	c.(3820-3822)GAA>GAG	p.E1274E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1274										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTAGTTCTTTTTCTTCAGGCC	0.468		NA											23	28					0	0	0	0
CENPBD1	92806	broad.mit.edu	37	16	90038224	90038224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:90038224G>A	uc002fpr.2	-	1	719	c.107C>T	c.(106-108)GCG>GTG	p.A36V	AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank	NM_145039	NP_659476	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	36	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CTTCTCACCCGCTTCAAATCG	0.468		NA											12	25					0	0	0	0
KIAA0664	23277	broad.mit.edu	37	17	2598736	2598736	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:2598736G>A	uc002fuy.1	-	14	2445	c.2359C>T	c.(2359-2361)CGC>TGC	p.R787C	KIAA0664_uc002fux.1_Missense_Mutation_p.R720C|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	787							binding			breast(2)	2						CCCAGGTAGCGCATGTTGATG	0.697		NA											18	41					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			28	4					0	0	0	0
HSF5	124535	broad.mit.edu	37	17	56536136	56536136	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:56536136C>T	uc002iwi.1	-	5	1837	c.1713G>A	c.(1711-1713)AAG>AAA	p.K571K		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACCAGGGGACTTTCCTTGTT	0.418		NA											16	28					0	0	0	0
KIAA1468	57614	broad.mit.edu	37	18	59928798	59928798	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr18:59928798C>A	uc002lil.2	+	16	2472	c.2257C>A	c.(2257-2259)CAG>AAG	p.Q753K	KIAA1468_uc002lik.1_Missense_Mutation_p.Q753K|KIAA1468_uc010xel.1_Missense_Mutation_p.Q753K|KIAA1468_uc002lim.2_Missense_Mutation_p.Q397K	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	753							binding	p.Q753K(1)		ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				TTCTGCCTTGCAGTCCTTGAT	0.433		NA											10	36					3.86e-05	4.16e-05	1	0
ZNF560	147741	broad.mit.edu	37	19	9579792	9579792	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:9579792C>A	uc002mlp.1	-	9	811	c.601G>T	c.(601-603)GGG>TGG	p.G201W	ZNF560_uc010dwr.1_Missense_Mutation_p.G95W	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						AACTGTATCCCATTTAATGTT	0.294		NA											3	14					0.004672	0.0049513	1	0
HOMER3	9454	broad.mit.edu	37	19	19043825	19043825	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:19043825G>A	uc002nku.2	-	5	1094	c.441C>T	c.(439-441)AAC>AAT	p.N147N	HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Silent_p.N111N|HOMER3_uc010ebz.2_Silent_p.N147N|HOMER3_uc002nkw.2_Silent_p.N147N|HOMER3_uc002nkv.2_Silent_p.N147N	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3 isoform	147					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)			CGCCGGGGCCGTTGGCACTGA	0.587		NA											26	79					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22942355	22942355	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:22942355C>T	uc010xrh.1	-	4	419	c.419G>A	c.(418-420)AGT>AAT	p.S140N		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTCATTGACACTTTCACAATC	0.328		NA											9	42					0	0	0	0
PRODH2	58510	broad.mit.edu	37	19	36303355	36303355	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:36303355A>C	uc002obx.1	-	3	524	c.506T>G	c.(505-507)GTG>GGG	p.V169G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	169					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCCCTTCACCTCCTCTGC	0.647		NA											6	27					0	0	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48578033	48578033	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:48578033C>T	uc002phx.2	-	12	1395	c.997G>A	c.(997-999)GAA>AAA	p.E333K	PLA2G4C_uc002phw.2_Missense_Mutation_p.E268K|PLA2G4C_uc010elr.2_Missense_Mutation_p.E333K|PLA2G4C_uc010xzd.1_Missense_Mutation_p.E343K	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	333	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTTTCCTTTCGGGGTCCTCA	0.562		NA											39	125					0	0	0	0
ZNF816A	125893	broad.mit.edu	37	19	53453768	53453768	+	Silent	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:53453768A>T	uc002qal.1	-	5	1561	c.1260T>A	c.(1258-1260)ACT>ACA	p.T420T	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.T404T	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		ATCCCTCTCCAGTATGAATCT	0.388		NA											50	38					0	0	0	0
ZNF304	57343	broad.mit.edu	37	19	57865177	57865177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:57865177C>T	uc010ygw.1	+	2	506	c.118C>T	c.(118-120)CGT>TGT	p.R40C	ZNF304_uc010etw.2_Missense_Mutation_p.R40C|ZNF304_uc010etx.2_5'UTR	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATTCCTGTACCGTGATGTGAT	0.378		NA											10	65					0	0	0	0
GALNT14	79623	broad.mit.edu	37	2	31155016	31155016	+	Missense_Mutation	SNP	C	C	T	rs139793019	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:31155016C>T	uc002rnr.2	-	10	1595	c.976G>A	c.(976-978)GTC>ATC	p.V326I	GALNT14_uc002rnq.2_Missense_Mutation_p.V306I|GALNT14_uc002rns.2_Missense_Mutation_p.V331I|GALNT14_uc010ymr.1_Missense_Mutation_p.V291I|GALNT14_uc010ezo.1_Missense_Mutation_p.V293I|GALNT14_uc010ezp.1_3'UTR	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	326	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V326I(1)		upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					CTGCAGGGGACGATCTCTAGG	0.557		NA											9	49					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	50280513	50280513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:50280513C>T	uc010fbp.2	-	4	1636	c.829G>A	c.(829-831)GCC>ACC	p.A277T	NRXN1_uc002rxb.3_Missense_Mutation_p.A1014T|NRXN1_uc010fbq.2_Missense_Mutation_p.A1382T|NRXN1_uc002rxe.3_Missense_Mutation_p.A1312T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	277	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATTGCATGGCAGTGGCTGTT	0.498		NA											17	72					0	0	0	0
CNGA3	1261	broad.mit.edu	37	2	99013496	99013496	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:99013496G>A	uc002syt.2	+	8	2280	c.1863G>A	c.(1861-1863)GCG>GCA	p.A621A	CNGA3_uc002syu.2_Silent_p.A603A|CNGA3_uc010fij.2_Silent_p.A625A	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	621					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						GGGCGGGCGCGGACCCCAAGG	0.622		NA											31	19					0	0	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964267	109964267	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:109964267C>T	uc010ywt.1	+	2	711	c.711C>T	c.(709-711)CAC>CAT	p.H237H		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	237	SH3 1.						zinc ion binding			ovary(1)	1						GCGAGCTGCACGGCACACAGG	0.587		NA											6	20					0	0	0	0
RBM43	375287	broad.mit.edu	37	2	152112091	152112091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:152112091G>A	uc002txh.2	-	2	318	c.170C>T	c.(169-171)ACA>ATA	p.T57I		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	57	RRM.						nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		CTTGGTTCTTGTCGGATATAT	0.318		NA											45	63					0	0	0	0
RNF25	64320	broad.mit.edu	37	2	219529928	219529928	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:219529928C>T	uc002vit.2	-	8	704	c.616G>A	c.(616-618)GTG>ATG	p.V206M	RNF25_uc010fvw.2_Missense_Mutation_p.V94M	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	206					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATCATACACGAGGGGCTCT	0.498		NA											6	20					0	0	0	0
PTPRN	5798	broad.mit.edu	37	2	220164844	220164844	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:220164844G>A	uc002vkz.2	-	9	1388	c.1299C>T	c.(1297-1299)CCC>CCT	p.P433P	PTPRN_uc010zlc.1_Silent_p.P343P|PTPRN_uc002vla.2_Silent_p.P433P	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	433	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGGCAGCTTTGGGAGGCTCAG	0.652		NA											31	52					0	0	0	0
PAX1	5075	broad.mit.edu	37	20	21695343	21695343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:21695343C>T	uc002wsj.2	+	5	1561	c.1507C>T	c.(1507-1509)CGC>TGC	p.R503C	PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	503					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GCGGGGTGCACGCCCAGCCAG	0.682		NA											5	22					0	0	0	0
SRMS	6725	broad.mit.edu	37	20	62178692	62178692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:62178692G>A	uc002yfi.1	-	1	166	c.125C>T	c.(124-126)CCC>CTC	p.P42L		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	42							ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|lung(1)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGGAGCGTGGGCACTGGGTC	0.697		NA											72	259					0	0	0	0
C2CD2	25966	broad.mit.edu	37	21	43327154	43327154	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr21:43327154G>A	uc002yzw.2	-	10	1507	c.1265C>T	c.(1264-1266)GCT>GTT	p.A422V	C2CD2_uc002yzt.2_Missense_Mutation_p.A38V|C2CD2_uc002yzu.2_Missense_Mutation_p.A254V|C2CD2_uc002yzv.2_Missense_Mutation_p.A267V|C2CD2_uc002yzx.1_Missense_Mutation_p.A267V	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	422						cytosol|extracellular region|nucleus				ovary(1)	1						GGTCTTCACAGCAGTGACAGT	0.582		NA											15	27					0	0	0	0
XKR3	150165	broad.mit.edu	37	22	17288926	17288926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:17288926G>T	uc002zlv.2	-	2	136	c.38C>A	c.(37-39)ACA>AAA	p.T13K	XKR3_uc011agf.1_Missense_Mutation_p.T13K	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	13						integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACTCCTCCTGTGCTTTCTTC	0.408		NA											21	48					1.56e-14	1.77e-14	1	0
SEC14L2	23541	broad.mit.edu	37	22	30803469	30803469	+	Silent	SNP	C	C	T	rs144595900	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:30803469C>T	uc003ahr.2	+	5	473	c.300C>T	c.(298-300)TAC>TAT	p.Y100Y	SEC14L2_uc003ahq.2_Silent_p.Y100Y|SEC14L2_uc011akx.1_Silent_p.Y46Y|SEC14L2_uc003ahs.2_Silent_p.Y26Y|SEC14L2_uc011aky.1_Intron|SEC14L2_uc003aht.2_5'Flank|SEC14L2_uc003ahu.3_5'Flank|SEC14L2_uc010gvv.2_5'Flank|SEC14L2_uc010gvw.1_5'Flank|MTP18_uc010gvx.1_5'Flank|MTP18_uc003ahv.1_5'Flank|MTP18_uc010gvy.1_5'Flank	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	100	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)	CAGTCTGGTACGACATAATTG	0.557		NA											40	82					0	0	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720458	50720458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:50720458G>A	uc003bkv.3	-	20	3276	c.3170C>T	c.(3169-3171)TCC>TTC	p.S1057F	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Missense_Mutation_p.S42F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1057	IPT/TIG 3.|Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAGCCGGGGACAGGAAGAC	0.647		NA											7	21					0	0	0	0
MAP4	4134	broad.mit.edu	37	3	47912432	47912432	+	Silent	SNP	C	C	T	rs146957827		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:47912432C>T	uc003csb.2	-	13	3256	c.2730G>A	c.(2728-2730)TCG>TCA	p.S910S	MAP4_uc003csc.3_Silent_p.S910S|MAP4_uc003crw.2_Silent_p.S42S|MAP4_uc003crx.2_Silent_p.S170S|MAP4_uc011bbe.1_Silent_p.S661S|MAP4_uc003cry.2_Silent_p.S645S|MAP4_uc003csa.3_Silent_p.S645S|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Silent_p.S645S	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	910					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGGTTTGGCCGAGGTGGGCT	0.632		NA											27	39					0	0	0	0
CACNA1D	776	broad.mit.edu	37	3	53842756	53842756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:53842756C>T	uc003dgv.3	+	46	5993	c.5830C>T	c.(5830-5832)CCC>TCC	p.P1944S	CACNA1D_uc003dgu.3_Missense_Mutation_p.P1964S|CACNA1D_uc003dgy.3_Missense_Mutation_p.P1920S|CACNA1D_uc003dgw.3_Missense_Mutation_p.P1611S|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1944	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1964S(1)		ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCCATCTTCCCCCATCGCAC	0.637		NA											15	31					0	0	0	0
POLQ	10721	broad.mit.edu	37	3	121207697	121207697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:121207697G>A	uc003eee.3	-	16	4210	c.4081C>T	c.(4081-4083)CAG>TAG	p.Q1361*	POLQ_uc003eed.2_Nonsense_Mutation_p.Q533*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1361					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.Q1496*(1)		ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		ATTGAGTTCTGTTGGACTAAG	0.438		NA						DNA_polymerases_(catalytic_subunits)					25	153					0	0	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135722254	135722254	+	Silent	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:135722254A>T	uc003eqv.1	+	2	2479	c.1914A>T	c.(1912-1914)TCA>TCT	p.S638S	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	638					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						CCAATTTATCAGTCTGTAGAA	0.413		NA											21	72					0	0	0	0
TRIO	7204	broad.mit.edu	37	5	14378176	14378176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr5:14378176G>A	uc003jff.2	+	20	3393	c.3387G>A	c.(3385-3387)ATG>ATA	p.M1129I	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.M1080I|TRIO_uc003jfh.1_Missense_Mutation_p.M778I	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1129	Spectrin 4.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M1129I(1)		skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ACTGGACCATGAGGAAGAGAC	0.493		NA											4	8					0	0	0	0
TULP1	7287	broad.mit.edu	37	6	35479474	35479474	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:35479474G>A	uc003okv.3	-	4	312	c.300C>T	c.(298-300)CGC>CGT	p.R100R	TULP1_uc003okw.3_Intron	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	100					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						CCCGGGGGTCGCGCTTCTTGG	0.726		NA											4	7					0	0	0	0
STK38	11329	broad.mit.edu	37	6	36485513	36485513	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:36485513G>C	uc003omg.2	-	5	1083	c.495C>G	c.(493-495)ATC>ATG	p.I165M	STK38_uc003omh.2_Missense_Mutation_p.I165M|STK38_uc003omi.2_Missense_Mutation_p.I165M	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	165	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	p.I165M(1)		ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						GGAACTCCATGATTAGGTAGA	0.423		NA											21	56					0	0	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777895	110777895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:110777895C>T	uc003puf.2	-	2	446	c.379G>A	c.(379-381)GAT>AAT	p.D127N	SLC22A16_uc003pue.2_Missense_Mutation_p.D108N|SLC22A16_uc003pug.2_Missense_Mutation_p.D127N	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	127					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ATGTAGCCATCCACACAAGGA	0.488		NA											55	77					0	0	0	0
ETV1	2115	broad.mit.edu	37	7	13935629	13935629	+	Silent	SNP	T	T	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:13935629T>C	uc011jxq.1	-	14	2035	c.1296A>G	c.(1294-1296)CCA>CCG	p.P432P	ETV1_uc011jxn.1_Silent_p.P392P|ETV1_uc011jxo.1_Silent_p.P329P|ETV1_uc011jxp.1_Silent_p.P374P|ETV1_uc003ssw.3_Silent_p.P409P|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.P414P|ETV1_uc011jxs.1_Silent_p.P414P	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	432					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						TCTTCAGCAGTGGACGCTGAT	0.498		NA	T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								11	17					0	0	0	0
SLC4A2	6522	broad.mit.edu	37	7	150772826	150772826	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:150772826G>A	uc003wit.3	+	21	3691	c.3435G>A	c.(3433-3435)CCG>CCA	p.P1145P	SLC4A2_uc011kve.1_Silent_p.P1136P|SLC4A2_uc003wiu.3_Silent_p.P1131P|SLC4A2_uc003wiv.3_Silent_p.P339P|uc011kvf.1_Intron	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	1145	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTCATGCCGCCCAAACACC	0.582		NA											14	41					0	0	0	0
PDLIM2	64236	broad.mit.edu	37	8	22438929	22438929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr8:22438929G>A	uc003xby.2	+	3	531	c.131G>A	c.(130-132)CGG>CAG	p.R44Q	PDLIM2_uc003xbx.1_Missense_Mutation_p.R44Q|PDLIM2_uc003xbz.2_Missense_Mutation_p.R44Q|PDLIM2_uc003xca.2_Missense_Mutation_p.R44Q|PDLIM2_uc003xcb.2_Missense_Mutation_p.R44Q|PDLIM2_uc003xcc.1_Missense_Mutation_p.R44Q	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	44	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTGACCTCCGGCCTGGAGAC	0.662		NA											6	9					0	0	0	0
PRKDC	5591	broad.mit.edu	37	8	48852134	48852134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr8:48852134G>A	uc003xqi.2	-	11	1147	c.1090C>T	c.(1090-1092)CGT>TGT	p.R364C	PRKDC_uc003xqj.2_Missense_Mutation_p.R364C|PRKDC_uc011ldh.1_Missense_Mutation_p.R364C	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	364					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCATATCCACGGATAGCAATA	0.338		NA						NHEJ					28	87					0	0	0	0
KIAA1797	54914	broad.mit.edu	37	9	20944734	20944734	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:20944734C>T	uc003zog.1	+	31	3879	c.3516C>T	c.(3514-3516)CAC>CAT	p.H1172H	KIAA1797_uc003zoh.1_Silent_p.H608H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1172						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TGTCTGCGCACGTAGATGACA	0.512		NA											10	20					0	0	0	0
FOXB2	442425	broad.mit.edu	37	9	79635500	79635500	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:79635500C>T	uc004ako.1	+	1	930	c.930C>T	c.(928-930)GTC>GTT	p.V310V		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	310					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						GCAACGTCGTCAGCTCCGTGT	0.577		NA											6	9					0	0	0	0
LRRC8A	56262	broad.mit.edu	37	9	131678563	131678563	+	Silent	SNP	C	C	T	rs139232646		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:131678563C>T	uc004bwl.3	+	4	2600	c.2346C>T	c.(2344-2346)AGC>AGT	p.S782S	LRRC8A_uc010myp.2_Silent_p.S782S|LRRC8A_uc010myq.2_Silent_p.S782S	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	782					pre-B cell differentiation	integral to membrane					0						TCAAGCGCAGCGGCTTGGTGG	0.682		NA											6	12					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393696	139393696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:139393696G>A	uc004chz.2	-	32	5950	c.5950C>T	c.(5950-5952)CGA>TGA	p.R1984*		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1984	ANK 2.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R1984*(1)|p.R1985*(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTGTGGCTCGGTTCCGGATC	0.652		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			16	15					0	0	0	0
RGAG4	340526	broad.mit.edu	37	X	71350464	71350464	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chrX:71350464T>G	uc010nlh.1	-	1	1288	c.927A>C	c.(925-927)AGA>AGC	p.R309S	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	309										ovary(2)|skin(1)	3	Renal(35;0.156)					CGCGCACTTTTCTTTCTATCT	0.483		NA											40	74					0	0	0	0
MYBPC3	4607	broad.mit.edu	37	11	47354867	47354867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:47354867delG	uc001nfa.3	-	29	3263	c.3208delC	c.(3208-3210)CAGfs	p.Q1070fs		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1069	Fibronectin type-III 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CGGAGATCCTGGGGAGGACTT	0.637		NA											2	4	---	---	---	---	NA	NA	NA	NA
ARAP1	116985	broad.mit.edu	37	11	72412741	72412741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:72412741delT	uc001osu.2	-	16	2444	c.2255delA	c.(2254-2256)AAGfs	p.K752fs	ARAP1_uc001osv.2_Frame_Shift_Del_p.K752fs|ARAP1_uc001osr.2_Frame_Shift_Del_p.K512fs|ARAP1_uc001oss.2_Frame_Shift_Del_p.K507fs|ARAP1_uc009yth.2_Frame_Shift_Del_p.K446fs|ARAP1_uc010rre.1_Frame_Shift_Del_p.K507fs|ARAP1_uc001osw.1_Frame_Shift_Del_p.K40fs	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	752	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						AGAGGCAGTCTTGTAGAGGAA	0.627		NA											279	195	---	---	---	---	NA	NA	NA	NA
CDC42BPB	9578	broad.mit.edu	37	14	103452874	103452875	+	In_Frame_Ins	INS	-	-	TCA			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:103452874_103452875insTCA	uc001ymi.1	-	6	871_872	c.639_640insTGA	c.(637-642)insTGA	p.213_214ins*		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	213_214	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCCAGGCGGATATGACCATTCA	0.376		NA											87	74	---	---	---	---	NA	NA	NA	NA
HJURP	55355	broad.mit.edu	37	2	234750497	234750497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:234750497delC	uc002vvg.2	-	8	995	c.929delG	c.(928-930)TGCfs	p.C310fs	HJURP_uc010znd.1_Frame_Shift_Del_p.C249fs|HJURP_uc010zne.1_Frame_Shift_Del_p.C218fs	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	310					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCTCCTTTGCAATATGTTTT	0.468		NA											10	23	---	---	---	---	NA	NA	NA	NA
CLDN22	53842	broad.mit.edu	37	4	184241208	184241209	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr4:184241208_184241209delAC	uc010isa.1	-	1	719_720	c.163_164delGT	c.(163-165)GTCfs	p.V55fs	WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	claudin 22	55	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTCTTGGATGACACAGGTTTGC	0.465		NA											23	37	---	---	---	---	NA	NA	NA	NA
HLA-B	3106	broad.mit.edu	37	6	31322969	31322970	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:31322969_31322970delCA	uc003nth.2	-	5	980_981	c.926_927delTG	c.(925-927)GTGfs	p.V309fs	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Frame_Shift_Del_p.V188fs|HLA-B_uc003nti.1_Intron	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	309	Extracellular (Potential).|Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						CAACAATGCCCACGATGGGGAC	0.589		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				20	32	---	---	---	---	NA	NA	NA	NA
TNRC18	84629	broad.mit.edu	37	7	5353056	5353057	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:5353056_5353057insC	uc003soi.3	-	27	7814_7815	c.7465_7466insG	c.(7465-7467)GCGfs	p.A2489fs		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2489							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCAGCCCCCCGCCCCCGGATCC	0.688		NA											5	9	---	---	---	---	NA	NA	NA	NA
CDKN2A	1029	broad.mit.edu	37	9	21974755	21974758	+	Frame_Shift_Del	DEL	CCGA	CCGA	-	rs104894097		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:21974755_21974758delCCGA	uc003zpk.2	-	1	281_284	c.69_72delTCGG	c.(67-72)GGTCGGfs	p.G23fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.G23fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	23_24	ANK 1.		R -> P (in CMM2).|R -> Q (found in a patient with multiple primary melanoma; partial loss of CDK4 binding).|R -> C (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(23)|p.G23fs(2)|p.R24P(2)|p.R24Q(1)|p.R24fs*20(1)|p.R22fs*14(1)|p.G23G(1)|p.G23D(1)|p.G23fs*3(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCTCTACCCGACCCCGGGCCG	0.74		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	17	---	---	---	---	NA	NA	NA	NA