Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF492	57615	broad.mit.edu	37	19	22817127	22817127	+	Splice_Site	SNP	T	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:22817127T>G	uc002nqw.3	+	1	1	c.-243_splice	c.e1-1			NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGTGGCGGGGTCTTTGTCTCT	0.597000														27			10		0	0	0.717897	0	0
AACSP1	729522	broad.mit.edu	37	5	178194331	178194331	+	RNA	SNP	C	T	T	rs112953089		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:178194331C>T	uc011dgk.2	-	5		c.660G>A			AACSP1_uc011dgl.2_Non-coding_Transcript|AACSP1_uc003mjk.3_Non-coding_Transcript					Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA.																		TGCCACTGAGCGTGTACTGCG	0.527000														70			23		0	0	0.624587	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2086466	2086466	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:2086466G>A	uc002coi.3	+	2	694	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	TCRBV20S1_uc021tak.1_Intron|SLC9A3R2_uc002coj.3_Missense_Mutation_p.A186T|SLC9A3R2_uc021tan.1_Missense_Mutation_p.A75T|SLC9A3R2_uc002cok.3_Missense_Mutation_p.A75T|SLC9A3R2_uc021tao.1_Missense_Mutation_p.A73T	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 (SLC9A3R2), transcript variant 1, mRNA.	186	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						CTCACCTGCCGCCCGCTCTGG	0.697000														71			20		0	0	0.608945	0	0
WDR36	134430	broad.mit.edu	37	5	110428198	110428198	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:110428198C>T	uc003kpd.3	+	0	329	c.212C>T	c.(211-213)gCg>gTg	p.A71V	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	71					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCGCTTTTTGCGGGGTTCCGG	0.612000														357			7		0	0	0.248553	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:14976G>A	uc009vis.3	-	2		c.369C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CTACCCTTGCGCCTCATGACC	0.582000														30			4		0	0	0.307466	0	0
GPT2	84706	broad.mit.edu	37	16	46956249	46956249	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:46956249C>A	uc002eel.3	+	8	1227	c.1133C>A	c.(1132-1134)cCa>cAa	p.P378Q	GPT2_uc002eem.3_Missense_Mutation_p.P278Q|GPT2_uc002een.3_5'Flank	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	378					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTGTGCCCCCCAGTGTCTGGG	0.607000														491			160		3.12418e-63	3.66283e-63	0.870114	1	0
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr9:124062285T>G	uc004blf.1	+	1	205	c.144_splice	c.e1+2	p.R48_splice	GSN_uc004bld.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	48					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697000														76			14		0	0	0.796494	0	0
MMP16	4325	broad.mit.edu	37	8	89086968	89086968	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr8:89086968G>A	uc003yeb.4	-	6	1369	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	363	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.Q363H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CAAAACCACTGGTCCTGCAAA	0.498000														329			99		0	0	0.870114	0	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	T	T	rs75468660		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr20:29624093G>T	uc010ztl.1	+	1	58	c.26_splice	c.e1+1	p.R9_splice	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299000														78			3		9.70103e-10	1.06398e-09	0.361761	1	0
ZFYVE19	84936	broad.mit.edu	37	15	41101367	41101367	+	Silent	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:41101367C>T	uc001zmt.1	+	1	844	c.330C>T	c.(328-330)ttC>ttT	p.F110F	DNAJC17_uc001zms.2_5'Flank|DNAJC17_uc010bbz.2_5'Flank|DNAJC17_uc010bca.2_5'Flank|DNAJC17_uc010bcb.2_5'Flank|ZFYVE19_uc001zmu.1_Silent_p.F110F|ZFYVE19_uc001zmv.1_5'UTR	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	110							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCTAAGCTTCAGTGCAGCAG	0.562000														476			9		0	0	0.307466	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140800914	140800914	+	Silent	SNP	C	T	T	rs147068995	by1000genomes	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:140800914C>T	uc003lkq.2	+	0	378	c.120C>T	c.(118-120)acC>acT	p.T40T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.T40T|PCDHGC5_uc003lkp.2_Silent_p.T40T	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	39	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAAGAGACCGAAAAGGGCT	0.652000														200			119		0	0	0.870114	0	0
PLXDC2	84898	broad.mit.edu	37	10	20534299	20534299	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:20534299G>C	uc001iqg.1	+	12	1975	c.1338G>C	c.(1336-1338)gaG>gaC	p.E446D	PLXDC2_uc001iqh.1_Missense_Mutation_p.E397D|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	446						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GTGCAGCTGAGAAGAAAGGGG	0.468000														329			84		0	0	0.870114	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172204	207172204	+	Silent	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:207172204G>A	uc002vbp.2	+	4	3202	c.2952G>A	c.(2950-2952)aaG>aaA	p.K984K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	984							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAGAGAAAAGCACGCTGAAT	0.398000														254			77		0	0	0.870114	0	0
SLC22A11	55867	broad.mit.edu	37	11	64323727	64323727	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:64323727C>T	uc001oai.3	+	0	630	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	SLC22A11_uc001oah.1_Missense_Mutation_p.R86C|SLC22A11_uc009ypq.3_Missense_Mutation_p.R86C	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	86					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCACCAGTGCCGCCGCTTCCG	0.652000											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		559			223		0	0	0.870114	0	0
COL6A1	1291	broad.mit.edu	37	21	47422162	47422162	+	Silent	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr21:47422162C>T	uc002zhu.1	+	31	2199	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	COL6A1_uc002zhv.1_Silent_p.G30G	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	699	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.A698A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGATGGCGGGCGGCACCTTCA	0.697000														54			21		0	0	0.592651	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:106820975C>T	uc001tlp.3	+	13	1324	c.1102_splice	c.e13-1	p.L368_splice	POLR3B_uc001tlq.3_Splice_Site_p.L310_splice	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000														42			8		0	0	0.411799	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212459533	212459533	+	Silent	SNP	A	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:212459533A>G	uc001hjb.3	+	0	655	c.81A>G	c.(79-81)aaA>aaG	p.K27K		NM_006243	NP_006234	Q15172	2A5A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA.	27					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCACCCGGAAATCGGTCCGCA	0.701000														80			48		0	0	0.870114	0	0
MST1P2	11209	broad.mit.edu	37	1	16974182	16974182	+	RNA	SNP	C	A	A	rs144074313	by1000genomes	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:16974182C>A	uc009vow.2	+	4		c.992C>A			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GAGCATATCCCGTGGAGTACC	0.672000														67			14		1.56452e-12	1.73458e-12	0.557998	1	0
IL31RA	133396	broad.mit.edu	37	5	55206448	55206448	+	Silent	SNP	C	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:55206448C>A	uc003jql.3	+	11	1782	c.1590C>A	c.(1588-1590)acC>acA	p.T530T	IL31RA_uc003jqm.3_Silent_p.T511T|IL31RA_uc003jqn.3_Silent_p.T530T|IL31RA_uc010iwa.1_Silent_p.T493T|IL31RA_uc021xyq.1_Silent_p.T511T|IL31RA_uc003jqo.3_Silent_p.T388T	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	498					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGCCAGCACCAGTGCTGGGG	0.473000														584			134		4.28411e-51	4.90988e-51	0.870114	1	0
CR2	1380	broad.mit.edu	37	1	207643052	207643052	+	Missense_Mutation	SNP	C	T	T	rs115418682	by1000genomes	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:207643052C>T	uc001hfw.3	+	5	949	c.830C>T	c.(829-831)cCa>cTa	p.P277L	CR2_uc001hfv.3_Missense_Mutation_p.P277L|CR2_uc009xch.3_Missense_Mutation_p.P277L|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	277	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATTTTTTGCCCATCACCTCCC	0.428000														455			87		0	0	0.870114	0	0
HTR6	3362	broad.mit.edu	37	1	20005645	20005645	+	Silent	SNP	G	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:20005645G>T	uc001bcl.3	+	2	1574	c.1107G>T	c.(1105-1107)gtG>gtT	p.V369V		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	369					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TACAGCAGGTGCTGCCGCTGC	0.726000														86			9		0.000274275	0.00028547	0.307466	1	0
COL6A5	256076	broad.mit.edu	37	3	130095344	130095344	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:130095344G>C	uc010htj.1	+	2	826	c.332G>C	c.(331-333)gGa>gCa	p.G111A	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	111	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTGCAGATAGGAAAGGCTCTT	0.502000														42			15		0	0	0.457914	0	0
TEKT4	150483	broad.mit.edu	37	2	95537377	95537377	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:95537377C>A	uc002stw.1	+	0	146	c.53C>A	c.(52-54)gCc>gAc	p.A18D	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	18					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TACGACGTGGCCCGTAACACG	0.667000														205			15		4.93089e-13	5.52693e-13	0.457914	1	0
CACNA1C	775	broad.mit.edu	37	12	2702421	2702421	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:2702421G>A	uc009zdu.1	+	18	2886	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H	CACNA1C_uc001qkc.2_Missense_Mutation_p.R858H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R858H|CACNA1C_uc001qke.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R858H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R858H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkj.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkk.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkm.2_Missense_Mutation_p.R858H|CACNA1C_uc001qko.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R858H|CACNA1C_uc001qku.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R858H|CACNA1C_uc001qks.2_Missense_Mutation_p.R858H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R858H|CACNA1C_uc009zdv.1_Missense_Mutation_p.R855H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R858H|CACNA1C_uc001qka.1_Missense_Mutation_p.R393H|CACNA1C_uc001qki.1_Missense_Mutation_p.R594H	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	858					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTCGGCCCTCGCCCACGACCA	0.512000														181			40		0	0	0.819951	0	0
SHC4	399694	broad.mit.edu	37	15	49255053	49255053	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:49255053C>T	uc001zxb.1	-	0	589	c.160G>A	c.(160-162)Ggc>Agc	p.G54S		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	54	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TGCGGCGAGCCCTTGTTCCCG	0.662000														418			150		0	0	0.870114	0	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	C	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:56171880A>C	uc002qlu.3	+	4	1286	c.231_splice	c.e4-2	p.I77_splice	U2AF2_uc002qlt.3_Splice_Site_p.I77_splice	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	77					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000														124			7		0	0	0.667858	0	0
MPP6	51678	broad.mit.edu	37	7	24690147	24690147	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr7:24690147G>A	uc003swx.3	+	5	766	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	MPP6_uc003swy.3_Missense_Mutation_p.R156Q	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	156	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GTAATTGCCCGAATCCTCCAT	0.353000														400			7		0	0	0.278610	0	0
C2orf71	388939	broad.mit.edu	37	2	29295775	29295775	+	Silent	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:29295775C>T	uc002rmt.2	-	0	1353	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	451					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTGCTTGTCCCCAGCTTCA	0.542000														389			127		0	0	0.870114	0	0
KBTBD5	131377	broad.mit.edu	37	3	42728164	42728164	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:42728164G>A	uc003clv.1	+	0	1154	c.1054G>A	c.(1054-1056)Gtc>Atc	p.V352I		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	352										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAGAACCACGTCAGCCTGGT	0.557000														225			84		0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	T	T	rs11540652		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				156			67		0	0	0.870114	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098962	178098962	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:178098962A>G	uc002ulh.4	-	1	638	c.83T>C	c.(82-84)aTa>aCa	p.I28T	NFE2L2_uc002ulg.4_Missense_Mutation_p.I12T|NFE2L2_uc010zfa.2_Missense_Mutation_p.I12T|NFE2L2_uc002uli.4_Missense_Mutation_p.I12T|NFE2L2_uc010fra.3_Missense_Mutation_p.I12T|NFE2L2_uc010frb.3_Missense_Mutation_p.I12T	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	28					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I28T(2)|p.D27Y(1)|p.D27H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAAGATCTATATCTTGCCT	0.358000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)				207			62		0	0	0.870114	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324226	27324226	+	Silent	SNP	A	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:27324226A>G	uc009xku.1	-	23	3325	c.3153T>C	c.(3151-3153)gaT>gaC	p.D1051D	ANKRD26_uc001itg.2_Silent_p.D737D|ANKRD26_uc001ith.2_Silent_p.D1050D	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1050						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGTTAGACACATCAAAATTCA	0.343000														332			128		0	0	0.870114	0	0
TAF5	6877	broad.mit.edu	37	10	105128042	105128042	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:105128042C>A	uc001kwv.3	+	0	319	c.296C>A	c.(295-297)gCc>gAc	p.A99D	TAF5_uc010qqq.2_Missense_Mutation_p.A99D	NM_006951	NP_008882	Q15542	TAF5_HUMAN	Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.	99	LisH.				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTCTACTGGCCGTGCTGCAG	0.756000														52			3		6.4e-05	6.7299e-05	0.115264	1	0
SPTB	6710	broad.mit.edu	37	14	65266502	65266502	+	Missense_Mutation	SNP	C	T	T	rs149837193	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:65266502C>T	uc001xht.3	-	7	1078	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	SPTB_uc001xhr.3_Missense_Mutation_p.A343T|SPTB_uc001xhs.3_Missense_Mutation_p.A343T|SPTB_uc001xhu.3_Missense_Mutation_p.A343T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	343					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCTGAAGGCCTGCAGCTGC	0.617000														299			105		0	0	0.870114	0	0
PLCE1	51196	broad.mit.edu	37	10	96005755	96005755	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:96005755A>G	uc001kjk.3	+	7	3107	c.2473A>G	c.(2473-2475)Aaa>Gaa	p.K825E	PLCE1_uc010qnx.2_Missense_Mutation_p.K825E|PLCE1_uc001kjm.3_Missense_Mutation_p.K517E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	825					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGAGCAATCCAAAGAATACGA	0.433000														295			110		0	0	0.870114	0	0
TAF2	6873	broad.mit.edu	37	8	120843973	120843973	+	Splice_Site	SNP	T	C	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr8:120843973T>C	uc003you.3	-	2	354	c.84_splice	c.e2-1	p.L28_splice		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	28					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGATGGGTTGtatattaataa	0.244000														158			60		0	0	0.870114	0	0
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:184104344T>G	uc003fov.3	+	15	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_uc003fow.3_Missense_Mutation_p.V296G|CHRD_uc003fox.3_Missense_Mutation_p.V666G|CHRD_uc003foy.3_Missense_Mutation_p.V296G|CHRD_uc010hyc.3_Missense_Mutation_p.V256G|CHRD_uc011brr.2_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726000														39			10		0	0	0.667858	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077157	34077157	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:34077157T>G	uc002hjv.2	-	1	594	c.566A>C	c.(565-567)gAc>gCc	p.D189A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	189					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGCGAGGGGTCGGGCGGGGG	0.741000														363			23		0	0	0.796494	0	0
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:132458560G>A	uc004exc.1	-	2	536	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_uc011mvg.1_Silent_p.F38F	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	108					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294000														332			19		0	0	0.639603	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34494	34494	+	Splice_Site	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrGL000241.1:34494C>T	uc011mgv.2	-	3		c.389_splice	c.e3+1							Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AACTGACTCACCAACATATCA	0.279000														251			11		0	0	0.435327	0	0
HRC	3270	broad.mit.edu	37	19	49658442	49658442	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:49658442G>T	uc002pmv.3	-	0	240	c.53C>A	c.(52-54)gCc>gAc	p.A18D	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	18					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GAGCAGGCTGGCCACCCCAGC	0.667000														313			107		4.22592e-57	4.89823e-57	0.870114	1	0
FZD10	11211	broad.mit.edu	37	12	130647817	130647817	+	Silent	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:130647817C>T	uc001uii.3	+	0	814	c.330C>T	c.(328-330)tgC>tgT	p.C110C	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	110	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGGTCATGTGCGAGCAGGCCC	0.642000														584			31		0	0	0.740014	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549437	127549437	+	Missense_Mutation	SNP	G	A	A	rs147454300	by1000genomes	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr9:127549437G>A	uc004bov.3	+	1	387	c.274G>A	c.(274-276)Gca>Aca	p.A92T	OLFML2A_uc010mwr.1_Missense_Mutation_p.A92T	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	92										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTCCTGTACCGCACCTCCCTC	0.617000														189			88		0	0	0.870114	0	0
PXDN	7837	broad.mit.edu	37	2	1668825	1668825	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:1668825G>A	uc002qxa.3	-	10	1377	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PXDN_uc002qxb.1_Missense_Mutation_p.T438M|PXDN_uc002qxc.1_Missense_Mutation_p.T255M	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	438	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTCCTGAGGCGTCACAGTGAA	0.532000														69			22		0	0	0.608945	0	0
BRF1	2972	broad.mit.edu	37	14	105707720	105707720	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:105707720G>T	uc001yqp.2	-	5	939	c.576C>A	c.(574-576)caC>caA	p.H192Q	BRF1_uc010tyo.1_Missense_Mutation_p.H77Q|BRF1_uc010typ.1_Missense_Mutation_p.H77Q|BRF1_uc001yql.2_5'UTR|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Missense_Mutation_p.H165Q|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript|BRF1_uc010axj.1_Intron	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	192					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ATTCCAGCAGGTGCGCAAAGC	0.632000														231			58		7.50695e-29	8.50788e-29	0.870114	1	0
SOGA3	387104	broad.mit.edu	37	6	127837119	127837119	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr6:127837119G>C	uc003qbd.3	-	1	1506	c.641C>G	c.(640-642)gCc>gGc	p.A214G		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	214	Gly-rich.					integral to membrane											AGAAGGGGAGGCCCCCTCCCC	0.741000														68			8		0	0	0.624587	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000														98			35		0	0	0.870114	0	0
KRT39	390792	broad.mit.edu	37	17	39122914	39122914	+	Silent	SNP	A	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:39122914A>G	uc002hvo.1	-	0	231	c.195T>C	c.(193-195)ttT>ttC	p.F65F	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	65	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GCTTGCGACAAAAGCGAGGAG	0.522000														718			199		0	0	0.870114	0	0
DYTN	391475	broad.mit.edu	37	2	207572064	207572064	+	Silent	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:207572064C>T	uc002vbr.1	-	2	375	c.258G>A	c.(256-258)ccG>ccA	p.P86P		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	86						plasma membrane	zinc ion binding	p.P86P(3)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAGTGAGTTCCGGAGCTCTGG	0.522000														64			13		0	0	0.435327	0	0
TERT	7015	broad.mit.edu	37	5	1268676	1268676	+	Silent	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:1268676G>A	uc003jcb.1	-	8	2599	c.2541C>T	c.(2539-2541)ggC>ggT	p.G847G	TERT_uc003jbz.1_Silent_p.G43G|TERT_uc003jcc.1_Silent_p.G847G|TERT_uc003jca.1_Silent_p.G835G|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_5'UTR	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	847	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTCCATGTCGCCGTAGCACA	0.627000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					264			68		0	0	0.870114	0	0
DHTKD1	55526	broad.mit.edu	37	10	12142180	12142180	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:12142180A>G	uc001ild.4	+	8	1774	c.1675A>G	c.(1675-1677)Aga>Gga	p.R559G		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	559					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.S558C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTACAGTCCAGAATGGAGAA	0.413000														696			219		0	0	0.870114	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702139	27702139	+	Silent	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:27702139G>A	uc001itu.2	-	0	1159	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	347					spermatid development	integral to membrane	hedgehog receptor activity	p.L347L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TAAATTGATCGAGCAAATGGG	0.517000														721			244		0	0	0.870114	0	0
EBF3	253738	broad.mit.edu	37	10	131639152	131639152	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:131639152G>A	uc021qav.1	-	13	1549	c.1448C>T	c.(1447-1449)tCg>tTg	p.S483L	EBF3_uc001lki.2_Missense_Mutation_p.S497L	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	506	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AAATCCAGGCGAGCCAGGGAC	0.522000														519			162		0	0	0.870114	0	0
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	RNA	SNP	A	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr21:11014987A>G	uc002yis.1	-	6		c.1459T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGTTTCAATAGCAGACT	0.388000														115			3		0	0	0.115264	0	0
LOC644189	644189	broad.mit.edu	37	19	36913445	36913445	+	RNA	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:36913445C>T	uc002odz.1	+	0		c.1370C>T								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		AGTCTCTGAACGGTTACGGGC	0.527000														123			35		0	0	0.788014	0	0
PC	5091	broad.mit.edu	37	11	66637839	66637839	+	Silent	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:66637839G>A	uc001ojn.1	-	6	886	c.837C>T	c.(835-837)ccC>ccT	p.P279P	PC_uc001ojo.1_Silent_p.P279P|PC_uc001ojp.1_Silent_p.P279P	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	279	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGTGGGCGGCGGGGGCAATCT	0.637000														435			79		0	0	0.870114	0	0
MYEOV	26579	broad.mit.edu	37	11	69063185	69063185	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:69063185G>A	uc001oov.3	+	2	718	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.V90M|MYEOV_uc001oow.3_Missense_Mutation_p.V32M	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	90								p.V90V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GCGTGTTGCGGTGAGAGGAGC	0.632000														578			83		0	0	0.870114	0	0
ARNT2	9915	broad.mit.edu	37	15	80800573	80800573	+	Silent	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:80800573G>A	uc002bfr.3	+	5	865	c.699G>A	c.(697-699)tcG>tcA	p.S233S	ARNT2_uc010unm.2_Silent_p.S222S|ARNT2_uc002bfs.3_Silent_p.S222S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	233					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCATGGGCTCGCGGCGGTCTT	0.537000														320			79		0	0	0.870114	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	G	G	rs121913530		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:25398285C>G	uc001rgp.1	-	1	215	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8564)|p.G12C(5976)|p.G12V(5758)|p.G12S(2576)|p.G12R(1579)|p.G12A(1401)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G10_A11insG(5)|p.A11_G12insGA(4)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.G12E(3)|p.A11P(2)|p.G12fs*3(1)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				138			19		0	0	0.624587	0	0
B3GAT1	27087	broad.mit.edu	37	11	134254062	134254062	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:134254062G>A	uc001qhq.3	-	3	394	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	B3GAT1_uc001qhr.3_Missense_Mutation_p.R45C|B3GAT1_uc010scv.1_Missense_Mutation_p.R58C	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	45					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCGTTTCGCGTCGGGGGTCA	0.711000														135			51		0	0	0.870114	0	0
SCN4A	6329	broad.mit.edu	37	17	62029022	62029022	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:62029022T>C	uc002jds.1	-	13	2692	c.2615A>G	c.(2614-2616)gAg>gGg	p.E872G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	872					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E872G(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGGGCAGTCTCCCCCGCCTC	0.657000														43			6		0	0	0.853193	0	0
ANO6	196527	broad.mit.edu	37	12	45803201	45803201	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:45803201C>T	uc010slf.2	+	16	2340	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	ANO6_uc001roo.3_Nonsense_Mutation_p.R648*|ANO6_uc010sld.1_Nonsense_Mutation_p.R648*|ANO6_uc010sle.1_Nonsense_Mutation_p.R648*|ANO6_uc010slg.2_Nonsense_Mutation_p.R630*	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	648					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GATAACCCCACGATGGGAACA	0.353000														332			160		0	0	0.870114	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103022865	103022865	+	Splice_Site	SNP	A	T	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:103022865A>T	uc001phn.1	+	21	3091	c.2947_splice	c.e21-1	p.I983_splice	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Splice_Site_p.I983_splice	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	983	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAACCTTTAGATTTTGCCCTT	0.269000														107			11		0	0	0.457914	0	0
XIRP2	129446	broad.mit.edu	37	2	168099977	168099977	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:168099977T>C	uc002udx.3	+	8	2164	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.V517A|XIRP2_uc010fpq.3_Missense_Mutation_p.V470A|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	517					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCAAGACTGTGAGATACATG	0.403000														250			70		0	0	0.870114	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														150			9		0	0	0.335167	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2603	2603	+	RNA	SNP	C	G	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrGL000237.1:2603C>G	uc011mgu.1	-	0		c.84G>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		gttacaggctccagcctccag	0.612000														48			4		0	0	0.184627	0	0
MST1P2	11209	broad.mit.edu	37	1	16974141	16974141	+	RNA	DEL	G	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:16974141delG	uc009vow.2	+	4		c.951delG			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGGCTTGGCCGGGGAGGTCAG	0.667													---	41	---	---	7	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr4:1019055_1019056delCA	uc003gce.3	+	6	1596_1597	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_uc003gcf.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.3_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													---	87	---	---	8	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:24492973delA	uc003jgr.2	-	9	2083	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F525V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			---	1316	---	---	7	---					
UNC5A	90249	broad.mit.edu	37	5	176301302	176301304	+	In_Frame_Del	DEL	CAC	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:176301302_176301304delCAC	uc003mey.3	+	7	1305_1307	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_uc010jkg.1_In_Frame_Del_p.T336del	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	376					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645													---	823	---	---	7	---					
DKFZP586I1420	222161	broad.mit.edu	37	7	30412408	30412408	+	RNA	DEL	C	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr7:30412408delC	uc003tau.3	+	0		c.2743delC								Homo sapiens uncharacterized protein DKFZp586I1420 (DKFZP586I1420), non-coding RNA.																		GTGGGACAAGCaaaaaaaaaa	0.338													---	4	---	---	2	---					
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr7:100281686_100281688delGCT	uc003uwg.1	-	14	2832_2834	c.1823_1825delAGC	c.(1822-1827)cagctc>ctc	p.Q608del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	608	Gln-rich.|Poly-Gln.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.690													---	187	---	---	7	---					
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr9:35906348_35906350delCTG	uc003zyr.1	+	0	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670													---	209	---	---	8	---					
DCP1B	196513	broad.mit.edu	37	12	2064701	2064701	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:2064701delT	uc001qjx.1	-	5	628	c.548delA	c.(547-549)aagfs	p.K183fs	DCP1B_uc010sdy.1_Frame_Shift_Del_p.K81fs	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	183					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACTGGTTATCTTTTTTGGCTC	0.378													---	1014	---	---	9	---					
PRRT2	112476	broad.mit.edu	37	16	29825016	29825016	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:29825016delC	uc002dud.2	+	1	942	c.641delC	c.(640-642)gccfs	p.A214fs	BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Frame_Shift_Del_p.A214fs|PRRT2_uc002duf.1_Frame_Shift_Del_p.A214fs|C16orf53_uc002dug.4_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA.	214	Pro-rich.			A -> AP (in Ref. 3; CAD38881).	response to biotic stimulus	integral to membrane		p.R217fs*12(1)|p.A214P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GCCAATGGGGCCCCCCCCCGA	0.652													---	144	---	---	9	---					
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:40336501_40336503delGCA	uc002hzc.1	-	1	152_154	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del		NM_001524	NP_001515	O43612	OREX_HUMAN	Homo sapiens hypocretin (orexin) neuropeptide precursor (HCRT), mRNA.	22					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		p.L22delL(2)		breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.704													---	113	---	---	7	---					
MLL2	8085	broad.mit.edu	37	19	36214865	36214866	+	Frame_Shift_Ins	INS	-	G	G	rs34014681	by1000genomes	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:36214865_36214866insG	uc021usv.1	+	7	3291_3292	c.3291_3292insG	c.(3289-3294)cccgggfs	p.P1097fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	864	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ACTCGGAGCCCGGGGGCCCCCC	0.574			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	374	---	---	13	---					
ZNF428	126299	broad.mit.edu	37	19	44111875	44111877	+	In_Frame_Del	DEL	TCC	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:44111875_44111877delTCC	uc002oxa.3	-	2	894_896	c.459_461delGGA	c.(457-462)gaggaa>gaa	p.153_154EE>E	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	Homo sapiens zinc finger protein 428 (ZNF428), mRNA.	153	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ctcctcctcttcctcctcctcct	0.660													---	189	---	---	7	---					
SLC8A2	6543	broad.mit.edu	37	19	47935504	47935507	+	Frame_Shift_Del	DEL	GCGA	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:47935504_47935507delGCGA	uc010ele.3	-	7	2322_2325	c.2306_2309delTCGC	c.(2305-2310)ctcgccfs	p.L769fs	SLC8A2_uc002pgx.3_Frame_Shift_Del_p.L769fs|SLC8A2_uc010xyq.2_Frame_Shift_Del_p.L525fs|SLC8A2_uc010xyr.2_Frame_Shift_Del_p.L232fs			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	769					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GAAGTGGGAGGCGAGGTCCCCAAT	0.623													---	337	---	---	97	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:54675747_54675749delTCC	uc010erf.3	-	1	333_335	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_uc002qdo.3_In_Frame_Del_p.E61del	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													---	724	---	---	8	---					
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	-	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:47030561_47030563delGGA	uc004dhi.3	+	3	760_762	c.531_533delGGA	c.(529-534)ggggag>ggg	p.E184del	RBM10_uc004dhe.2_In_Frame_Del_p.E109del|RBM10_uc004dhf.3_In_Frame_Del_p.E119del|RBM10_uc004dhh.3_In_Frame_Del_p.E119del|RBM10_uc010nhq.3_Intron|RBM10_uc004dhg.3_Intron	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	119	RRM 1.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.660													---	97	---	---	7	---					
ZMYM3	9203	broad.mit.edu	37	X	70472554	70472555	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:70472554_70472555insA	uc004dzh.2	-	1	730_731	c.551_552insT	c.(550-552)ccafs	p.P184fs	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Frame_Shift_Ins_p.P184fs|ZMYM3_uc004dzj.2_Frame_Shift_Ins_p.P184fs|ZMYM3_uc011mpu.2_5'Flank|ZMYM3_uc004dzl.4_Frame_Shift_Ins_p.P184fs	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	184					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGGGCTCTGTGGCTGCCCTTG	0.604													---	137	---	---	114	---					
