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_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
WHSC1	7468	broad.mit.edu	37	4	1902634	1902634	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr4:1902634C>G	ENST00000503128.1	+	2	460	c.253C>G	c.(253-255)Cgg>Ggg	p.R85G	WHSC1_ENST00000514045.1_Missense_Mutation_p.R85G|WHSC1_ENST00000382891.5_Missense_Mutation_p.R85G|WHSC1_ENST00000508803.1_Missense_Mutation_p.R85G|WHSC1_ENST00000436793.1_Missense_Mutation_p.R85G|WHSC1_ENST00000420906.2_Missense_Mutation_p.R85G|WHSC1_ENST00000398261.1_Missense_Mutation_p.R85G|WHSC1_ENST00000382892.2_Missense_Mutation_p.R85G|WHSC1_ENST00000382895.3_Missense_Mutation_p.R85G			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	85					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCTTACTTCCCGGGTGTTTAA	0.542000			T	IGH@	MM								5	48					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377643	50377643	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chrX:50377643G>T	ENST00000376020.2	-	4	1455	c.1430C>A	c.(1429-1431)aCc>aAc	p.T477N	SHROOM4_ENST00000460112.3_Missense_Mutation_p.T361N|SHROOM4_ENST00000289292.7_Missense_Mutation_p.T477N	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	477					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CACTTGTCTGGTCTTTCTTTC	0.527000													54	5					2.48254e-18	3.04111e-18	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62200342	62200342	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr20:62200342G>A	ENST00000467148.1	-	5	1168	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		ACCTGGCCCCGCAGGGTCAGC	0.692000													3	29					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35392557	35392557	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr6:35392557G>T	ENST00000337400.2	+	8	1428	c.1079G>T	c.(1078-1080)gGt>gTt	p.G360V	PPARD_ENST00000448077.2_Splice_Site|PPARD_ENST00000444397.1_Missense_Mutation_p.G360V|PPARD_ENST00000418635.2_Splice_Site|PPARD_ENST00000360694.3_Splice_Site|PPARD_ENST00000540939.1_Splice_Site|PPARD_ENST00000311565.4_Splice_Site			Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	0	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CTGTGTGGAGGTGAGTGAGAG	0.572000													14	25					1.5842e-08	1.80525e-08	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90162224	90162224	+	RNA	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:90162224G>A	ENST00000567960.1	+	0	960				TUBB8P7_ENST00000564451.1_RNA																							TTCAGGGGTCGCATGCCCATG	0.527000													4	158					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976814	47976814	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr6:47976814C>T	ENST00000543600.1	-	2	451	c.412G>A	c.(412-414)Ggg>Agg	p.G138R	PTCHD4_ENST00000339488.4_Missense_Mutation_p.G155R			Q6ZW05	CF138_HUMAN	patched domain containing 4	155						integral to membrane	hedgehog receptor activity										TCCACTACCCCGCCCAGTTGG	0.468000													4	30					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224261	26224261	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr7:26224261C>T	ENST00000056233.3	+	4	1202	c.943C>T	c.(943-945)Ctt>Ttt	p.L315F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	315					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGATGTGAATCTTCATGAGGC	0.408000													4	102					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713413	222713413	+	Silent	SNP	G	G	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:222713413G>T	ENST00000343410.6	-	4	1447	c.1389C>A	c.(1387-1389)ggC>ggA	p.G463G		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	463					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTGCTCTCCAGCCATAGTTTC	0.488000													5	104					1	1	1	1	0
FAM134C	162427	broad.mit.edu	37	17	40734779	40734779	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr17:40734779C>G	ENST00000309428.5	-	8	915	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	FAM134C_ENST00000585894.1_Missense_Mutation_p.E189Q|FAM134C_ENST00000543197.1_Missense_Mutation_p.E91Q	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	286						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TCTGAGTGCTCAGAGTCTGTG	0.493000													5	134					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115805294	115805294	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:115805294G>A	ENST00000490035.1	-	2	764	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	LSAMP_ENST00000539563.1_Missense_Mutation_p.R86C	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	89	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AGAGAATGGCGTTTCTCCAGC	0.507000													24	20					0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118427747	118427747	+	Missense_Mutation	SNP	G	G	C	rs144091431	by1000genomes	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr11:118427747G>C	ENST00000264020.2	-	5	589	c.212C>G	c.(211-213)aCc>aGc	p.T71S	IFT46_ENST00000264021.3_Missense_Mutation_p.T20S|IFT46_ENST00000530872.1_Missense_Mutation_p.T71S	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	20					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CAACTGTGAGGTCTTCTTCTT	0.408000													16	15					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824556	124824556	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr12:124824556G>A	ENST00000356219.3	-	38	5859	c.5704C>T	c.(5704-5706)Ctg>Ttg	p.L1902L	NCOR2_ENST00000404621.1_Silent_p.L1885L|NCOR2_ENST00000404121.2_Silent_p.L1456L|NCOR2_ENST00000429285.2_Silent_p.L1885L|NCOR2_ENST00000397355.1_Silent_p.L1886L|NCOR2_ENST00000405201.1_Silent_p.L1895L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1906				T -> K (in Ref. 2; AAD20946, 3; AAD22973, 4; AAX77219 and 8; AAC50236).	cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCCACCTCAGGACCGTGGGC	0.622000													9	21					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584394	30584394	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr20:30584394C>T	ENST00000217299.3	+	3	1048	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	292						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGACGACAAGCGGCCGCTGTC	0.682000													4	39					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr19:12155757C>A	ENST00000602107.1	-	5	599	c.600G>T	c.(598-600)agG>agT	p.R200S	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S			C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423000													5	144					0.00116845	0.00121817	1	1	0
OPN1LW	5956	broad.mit.edu	37	X	153420113	153420113	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chrX:153420113G>A	ENST00000369951.4	+	4	703	c.643G>A	c.(643-645)Ggg>Agg	p.G215R	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	215					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCGTACCCCGGGGTGCAGTC	0.607000													30	34					0	0	1	0	0
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498000													3	38					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179287979	179287979	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:179287979G>A	ENST00000429709.2	+	3	440	c.227G>A	c.(226-228)cGt>cAt	p.R76H	ACTL6A_ENST00000450518.2_Missense_Mutation_p.R34H|ACTL6A_ENST00000392662.1_Missense_Mutation_p.R34H	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	76					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AATGCTCTGCGTGTTCCGAGG	0.418000													6	69					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093037	211093037	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:211093037G>A	ENST00000367007.4	-	7	1495	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	KCNH1_ENST00000271751.4_Silent_p.I469I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	469					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGATGGGGCGATGTTCCCAA	0.507000													4	98					0	0	1	0	0
GOLGA6L7P	0	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271	by1000genomes	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1																						TCAGGGTTAGCGCCATGATTT	0.547000													4	30					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36474313	36474313	+	Silent	SNP	T	T	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:36474313T>C	ENST00000373191.4	+	7	1165	c.816T>C	c.(814-816)caT>caC	p.H272H	AGO3_ENST00000246314.6_Silent_p.H38H|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		AAGTGACTCATTGTGGAACAA	0.398000													4	65					0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	32973551	32973551	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr9:32973551A>C	ENST00000379817.2	-	7	1170	c.974T>G	c.(973-975)cTg>cGg	p.L325R	APTX_ENST00000476858.1_Missense_Mutation_p.L285R|APTX_ENST00000379813.3_Missense_Mutation_p.L325R|APTX_ENST00000463596.1_Missense_Mutation_p.L325R|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000397172.3_Missense_Mutation_p.L267R|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000468275.1_Missense_Mutation_p.L325R|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379819.1_Missense_Mutation_p.L339R			Q7Z2E3	APTX_HUMAN	aprataxin	339					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GGAAGGCAGCAGCTGCTGGCA	0.552000								Editing and processing nucleases					8	37					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25627656	25627656	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr22:25627656G>T	ENST00000398215.2	+	6	706	c.535G>T	c.(535-537)Gcc>Tcc	p.A179S		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	179	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CGACTTTGGGGCCCCTCACCC	0.652000													36	41					1.06647e-15	1.27456e-15	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166848827	166848827	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr2:166848827G>A	ENST00000423058.2	-	26	4975	c.4958C>T	c.(4957-4959)gCa>gTa	p.A1653V	SCN1A_ENST00000303395.4_Missense_Mutation_p.A1653V|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1625V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1642V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1653						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GATCCCCTTTGCTCCTTTGAT	0.498000													26	47					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39753017	39753017	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:39753017G>A	ENST00000564288.1	+	15	2345	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q	MACF1_ENST00000545844.1_Missense_Mutation_p.R528Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R528Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R528Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R560Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R528Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R528Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	528					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCTGTACCGGAAGGGTCAT	0.438000													4	137					0	0	1	0	0
RRN3P1	0	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													11	65					0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869332	31869332	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr21:31869332G>A	ENST00000334058.2	-	1	119	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	33						intermediate filament		p.R33C(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCAGTCTGCGGAAGCTGCCA	0.532000													4	118					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167713337	167713337	+	Silent	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr4:167713337C>T	ENST00000357154.3	-	8	839	c.702G>A	c.(700-702)ctG>ctA	p.L234L	SPOCK3_ENST00000504953.1_Silent_p.L231L|SPOCK3_ENST00000512648.1_Silent_p.L231L|SPOCK3_ENST00000357545.4_Silent_p.L231L|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541637.1_Silent_p.L136L|SPOCK3_ENST00000511531.1_Silent_p.L234L|SPOCK3_ENST00000534949.1_Silent_p.L138L|SPOCK3_ENST00000541354.1_Silent_p.L114L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.L136L|SPOCK3_ENST00000502330.1_Silent_p.L234L|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.L231L|SPOCK3_ENST00000506886.1_Silent_p.L234L|SPOCK3_ENST00000421836.2_Silent_p.L183L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	234					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TCTCAGGCCTCAGCAATGTTT	0.398000													28	44					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156009785	156009785	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:156009785C>G	ENST00000302490.8	+	1	960	c.89C>G	c.(88-90)cCc>cGc	p.P30R	KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.P30R|KCNAB1_ENST00000389636.5_Intron	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	49						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCACCGCCCCCAATGTGGTG	0.577000													4	44					0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84230300	84230300	+	Missense_Mutation	SNP	G	G	A	rs142962765	byFrequency	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:84230300G>A	ENST00000268624.3	+	10	1913	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.R525Q|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	525					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	p.R607Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCCTTTCTCCGGGCCTTTCAC	0.637000													26	38					0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3551146	3551146	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr19:3551146G>A	ENST00000355415.2	-	2	514	c.345C>T	c.(343-345)tgC>tgT	p.C115C	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Silent_p.C115C|MFSD12_ENST00000398558.4_Silent_p.C115C	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	115					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CACAGCCCAGGCAGGGGCTGA	0.667000													13	14					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32185012	32185012	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr6:32185012G>A	ENST00000375023.3	-	10	1794	c.1656C>T	c.(1654-1656)atC>atT	p.I552I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	552	EGF-like 14; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCACTCATCGATATCCTCCT	0.622000													5	7					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154884	22154884	+	Silent	SNP	T	T	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr19:22154884T>C	ENST00000397126.4	-	4	3100	c.2952A>G	c.(2950-2952)acA>acG	p.T984T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGATTGAGAATGTACTAAAGC	0.358000													3	58					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95914854	95914854	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr12:95914854C>A	ENST00000258499.3	-	5	2146	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.D620Y|USP44_ENST00000393091.2_Missense_Mutation_p.D620Y	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	620					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GCGGACAAGTCATAGATAAAG	0.453000													21	53					4.35082e-09	5.07595e-09	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995016	140995016	+	Missense_Mutation	SNP	T	T	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTCCTCTCTACTTTCCT	0.572000										HNSCC(15;0.026)			4	146					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100020239	100020239	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr2:100020239G>T	ENST00000258428.3	-	19	3313	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	REV1_ENST00000393445.3_Missense_Mutation_p.Q1028K|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1029					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCTCCCTCTGAAGTTCAGCA	0.517000								Direct reversal of damage					16	39					0.00400662	0.0040901	1	1	0
TTI1	9675	broad.mit.edu	37	20	36641587	36641587	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr20:36641587G>C	ENST00000373448.2	-	3	870	c.632C>G	c.(631-633)cCt>cGt	p.P211R	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.P211R|TTI1_ENST00000373447.3_Missense_Mutation_p.P211R	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	211							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGAGATTCCAGGTAAAAAAGA	0.433000													6	76					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58097609	58097609	+	Splice_Site	SNP	G	G	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:58097609G>C	ENST00000357272.4	+	17	2740		c.e17+1		FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000493452.1_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCAAAGCAGGTAAGATGGCA	0.582000													5	11					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67233242	67233242	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:67233242C>T	ENST00000393997.2	+	1	229	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	ELMO3_ENST00000360833.1_Missense_Mutation_p.R58W	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	5					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGCGCCTCCGCGGAACGTGGT	0.682000													3	24					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633727	70633727	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr14:70633727G>A	ENST00000381269.2	-	2	2166	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	SLC8A3_ENST00000528359.1_Silent_p.D471D|SLC8A3_ENST00000534137.1_Silent_p.D471D|SLC8A3_ENST00000356921.2_Silent_p.D471D|SLC8A3_ENST00000357887.3_Silent_p.D471D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	471	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.D471D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAAAATGTCGTCATCAATTA	0.512000													73	94					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432806	40432806	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:40432806C>T	ENST00000372809.5	+	9	1158	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	MFSD2A_ENST00000420632.2_Missense_Mutation_p.R170C|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R326C|MFSD2A_ENST00000480630.1_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	339					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTGGGCTTCCGCAATGAATT	0.552000													4	49					0	0	1	0	0
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
RP5-991G20.1	0	broad.mit.edu	37	16	72763869	72763870	+	RNA	DEL	AA	AA	-			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:72763869_72763870delAA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAAA	0.431													4	6	---	---	---	---					
MICAL3	57553	broad.mit.edu	37	22	18314825	18314827	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr22:18314825_18314827delCTC	ENST00000441493.2	-	21	3200_3202	c.2848_2850delGAG	c.(2848-2850)del	p.E950del		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	950	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCAGGCGAGGctcctcctcctcc	0.557													3	6	---	---	---	---					
