Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CHAMP1	283489	broad.mit.edu	37	13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr13:115090966T>C	uc001vuv.3	+	2	1981	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P	CHAMP1_uc010tko.2_Missense_Mutation_p.L550P|CHAMP1_uc010ahb.3_Missense_Mutation_p.L550P|CHAMP1_uc021rmx.1_Missense_Mutation_p.L550P	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AAACGTGCCCTTTTTCCAGAG	0.517000													5	328					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91655506	91655506	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:91655506T>G	uc001xyw.2	+	8	1539	c.1187T>G	c.(1186-1188)gTt>gGt	p.V396G	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.V396G|C14orf159_uc001xyz.2_Missense_Mutation_p.V267G|C14orf159_uc001xzb.2_Missense_Mutation_p.V391G|C14orf159_uc001xyx.2_Missense_Mutation_p.V379G|C14orf159_uc001xzc.2_Missense_Mutation_p.V391G|C14orf159_uc001xza.2_Missense_Mutation_p.V396G|C14orf159_uc001xyv.2_Missense_Mutation_p.V396G|C14orf159_uc001xze.2_Missense_Mutation_p.V391G	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	391						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GAAGATGCTGTTGAGCAAGGT	0.532000													19	87					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:109371498G>A	uc002tem.4	+	15	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	780					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353000													6	229					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219341590	219341590	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:219341590G>T	uc010fvs.1	-	18	2429	c.2016C>A	c.(2014-2016)aaC>aaA	p.N672K	USP37_uc002vie.2_Missense_Mutation_p.N672K|USP37_uc010zkf.1_Missense_Mutation_p.N672K|USP37_uc002vif.2_Missense_Mutation_p.N672K|USP37_uc002vig.2_Missense_Mutation_p.N578K	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	672					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GCTGCTGTTCGTTGCCTAACA	0.393000													20	52					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107087362	107087362	+	RNA	SNP	C	C	A	rs117282210	by1000genomes	TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:107087362C>A	uc021ser.1	-	126		c.5451G>T								Parts of antibodies, mostly variable regions.																		GAGACCCACTCCAAACCCTTT	0.507000													4	49					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39450137	39450137	+	Silent	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:39450137T>G	uc003cjq.3	+	2	259	c.174T>G	c.(172-174)ctT>ctG	p.L58L	RPSA_uc003cjp.3_Silent_p.L58L|SNORA62_uc010hhs.3_5'Flank	NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	58	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GGGAGAAGCTTCTGCTGGCAG	0.458000													16	46					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	rs112861775		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr11:124857585C>A	uc001qbm.4	+	7	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	488						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403000													5	141					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974955	16974955	+	RNA	SNP	A	A	G	rs149751487	by1000genomes	TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr1:16974955A>G	uc010och.2	+	6		c.1415A>G			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GCATGCTTTGATGTCTGGGAC	0.657000													3	108					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91450694	91450694	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr15:91450694C>T	uc010bnz.2	+	7	1280	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	MAN2A2_uc010boa.3_Missense_Mutation_p.R431W|MAN2A2_uc002bqc.3_Missense_Mutation_p.R389W|MAN2A2_uc010uql.2_Missense_Mutation_p.R93W|MAN2A2_uc010uqm.2_Silent_p.P35P	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	389					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGTGCCACCCCGGGCCATCAC	0.607000													11	50					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798749	38798749	+	Silent	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:38798749C>T	uc003gtl.3	-	3	1978	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	TLR1_uc021xnn.1_Silent_p.K568K	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	568	LRRCT.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGTGAAAGTCCTTTAGTAGGG	0.448000													32	111					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463271	179463271	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:179463271C>T	uc021vsy.1	-	240	49594	c.49369G>A	c.(49369-49371)Gtt>Att	p.V16457I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10152I|TTN_uc021vta.1_Missense_Mutation_p.V10085I|TTN_uc021vtb.1_Missense_Mutation_p.V9960I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17384	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATATTCAACGATGTATCCA	0.378000													17	23					0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996665	73996665	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr15:73996665C>A	uc002avv.1	+	5	1455	c.1221C>A	c.(1219-1221)aaC>aaA	p.N407K	CD276_uc010bjd.1_Missense_Mutation_p.N261K|CD276_uc002avu.1_Missense_Mutation_p.N407K|CD276_uc002avw.1_Missense_Mutation_p.N189K|CD276_uc010ulb.1_Missense_Mutation_p.N353K	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	407	Ig-like C2-type 2.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGACTGGCAACGTGACCACGT	0.647000											OREG0023265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	70					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2842496	2842496	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr20:2842496G>A	uc002whe.3	+	9	993	c.945G>A	c.(943-945)ggG>ggA	p.G315G	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	315					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCTCGATGGGGTCCGCATCT	0.592000													7	24					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145697577	145697577	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr8:145697577G>A	uc003zcz.3	+	13	1607	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E	KIFC2_uc003zda.3_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	514	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGTTCCGGGAGATGGGGGCCG	0.652000													3	74					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28194930	28194930	+	Silent	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr22:28194930C>T	uc003adj.3	-	0	2557	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	534	Poly-Gln.						binding	p.Q550_R551insQ(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgttgctgct	0.647000			T	ETV6	"""AML, meningioma"""								3	6					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	564561	564561	+	Missense_Mutation	SNP	C	C	T	rs138384447		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr6:564561C>T	uc003mtd.3	-	14	1785	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	EXOC2_uc003mte.3_Missense_Mutation_p.A551T|EXOC2_uc011dho.2_Missense_Mutation_p.A146T	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	551					exocytosis|protein transport			p.H550H(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCTGGATGGCGTGAGCGAGC	0.517000													26	93					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr11:115080343G>T	uc001ppi.4	-	7	1158	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_Silent_p.T95T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(10)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													3	46					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1501315	1501315	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chrX:1501315A>G	uc004cps.3	+	11	1443	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.E287G	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	365						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCCGGCCTGGAGGAGTGTCTG	0.637000													32	161					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133753877	133753877	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr9:133753877A>G	uc004bzw.3	+	7	1349	c.1346A>G	c.(1345-1347)tAt>tGt	p.Y449C	ABL1_uc004bzv.3_Missense_Mutation_p.Y468C	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	449	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCCCAGGTGTATGAGCTGCTA	0.507000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								62	178					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155158120	155158120	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:155158120C>A	uc003inw.2	-	24	6319	c.6319G>T	c.(6319-6321)Gct>Tct	p.A2107S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2107	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAACCAGAGCATCCTCACTT	0.398000													5	207					0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000													2	5					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975781	152975781	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr1:152975781G>A	uc021ozo.1	+	0	285	c.285G>A	c.(283-285)gaG>gaA	p.E95E	SPRR3_uc001fax.4_Silent_p.E95E|SPRR3_uc001faz.4_Silent_p.E95E|SPRR3_uc001fay.2_Silent_p.E87E	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.E95G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTCCCTGAGCCAGGTTGTA	0.592000													18	38					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:40580552T>G	uc010xvh.2	-	5	1948	c.1800A>C	c.(1798-1800)caA>caC	p.Q600H	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.Q599H|ZNF780A_uc002omz.3_Missense_Mutation_p.Q599H	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													4	144					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408253	105408253	+	Missense_Mutation	SNP	C	C	T	rs112306443		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:105408253C>T	uc010axc.1	-	6	13655	c.13535G>A	c.(13534-13536)cGc>cAc	p.R4512H	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.R4412H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4512						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTGAATGCGGAGGTCAGT	0.622000													47	106					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440632	40440632	+	Silent	SNP	G	G	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:40440632G>T	uc003gvc.2	-	3	989	c.279C>A	c.(277-279)gcC>gcA	p.A93A	RBM47_uc003gvd.2_Silent_p.A93A|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.A55A|RBM47_uc003gvg.1_Silent_p.A93A	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	93	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGCGGCCCACGGCCTCGAACA	0.672000													3	87					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958222	47958222	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:47958222G>A	uc003csb.2	-	6	1621	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	MAP4_uc003csc.3_Silent_p.A365A|MAP4_uc011bbf.1_Silent_p.A342A|MAP4_uc003csf.3_Silent_p.A382A	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	365	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.L364L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTGGAAGGGGCTAAGTCCA	0.478000													4	179					0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000													6	18					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:49926533G>C	uc002pnn.1	-	0	166	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	Homo sapiens parathyroid hormone 2 (PTH2), mRNA.	22					neuropeptide signaling pathway	extracellular region		p.L22V(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	26					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71037204	71037204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:71037204G>A	uc003dol.3	-	9	1410	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	FOXP1_uc003dom.3_Nonsense_Mutation_p.Q287*|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Nonsense_Mutation_p.Q363*|FOXP1_uc003doo.3_Nonsense_Mutation_p.Q363*|FOXP1_uc003dop.3_Nonsense_Mutation_p.Q363*|FOXP1_uc021xao.1_Nonsense_Mutation_p.Q363*|FOXP1_uc003doq.1_Nonsense_Mutation_p.Q362*|FOXP1_uc003doi.3_Nonsense_Mutation_p.Q263*|FOXP1_uc003dok.3_Nonsense_Mutation_p.Q289*|FOXP1_uc003doj.3_Nonsense_Mutation_p.Q365*|FOXP1_uc003dor.1_Nonsense_Mutation_p.Q141*	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	363	Leucine-zipper.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATCATGGCTTGCAGGCGTTCT	0.428000			T	PAX5	ALL								63	154					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179597	103179597	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr7:103179597C>T	uc022ajr.1	-	44	7268	c.7108G>A	c.(7108-7110)Gtt>Att	p.V2370I	RELN_uc022ajq.1_Missense_Mutation_p.V2370I|RELN_uc010liz.3_Missense_Mutation_p.V2370I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2370					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCACGGCAACGTCTGTGCTG	0.542000													7	46					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19645880	19645880	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:19645880C>T	uc002nmt.2	+	3	428	c.356C>T	c.(355-357)aCg>aTg	p.T119M	YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Missense_Mutation_p.T118M|YJEFN3_uc010ecf.2_Missense_Mutation_p.T69M|YJEFN3_uc002nmu.2_Non-coding_Transcript	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	119	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						AAGCAGAGGACGGTGCTGGTC	0.642000													73	152					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71790685	71790685	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:71790685G>A	uc002llf.2	-	7	1136	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	FBXO15_uc002lle.2_Silent_p.H276H	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	276								p.V352I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443000													3	59					0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802090	34802090	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:34802090G>T	uc002kzz.3	+	9	1656	c.1634G>T	c.(1633-1635)cGa>cTa	p.R545L	KIAA1328_uc002lab.3_3'UTR|KIAA1328_uc002lac.1_Missense_Mutation_p.R404L	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478000													4	15					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958225	47958225	+	Silent	SNP	T	T	C			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:47958225T>C	uc003csb.2	-	6	1618	c.1092A>G	c.(1090-1092)ttA>ttG	p.L364L	MAP4_uc003csc.3_Silent_p.L364L|MAP4_uc011bbf.1_Silent_p.L341L|MAP4_uc003csf.3_Silent_p.L381L	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	364	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.L364L(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGAAGGGGCTAAGTCCATTT	0.478000													4	184					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21134925	21134925	+	Silent	SNP	G	G	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:21134925G>T	uc002kum.4	-	8	1624	c.1350C>A	c.(1348-1350)atC>atA	p.I450I	NPC1_uc010xaz.2_Silent_p.I251I|NPC1_uc010xba.1_Silent_p.I295I	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	450					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAATGTTTTCGATGGCTATTT	0.398000													8	30					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100084560	100084560	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr7:100084560C>T	uc003uvd.1	+	2	344	c.185C>T	c.(184-186)aCg>aTg	p.T62M	NYAP1_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	62																	GGTTTCATGACGATGCCCGCC	0.751000													4	11					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr7:57187809T>G	uc010kzo.3	-	4	1584	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453000													4	83					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159549858	159549858	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:159549858delA	uc003ipz.3	+	10	1159	c.896delA	c.(895-897)gaafs	p.E299fs	RXFP1_uc010iqj.2_Frame_Shift_Del_p.E128fs|RXFP1_uc010iqk.3_Frame_Shift_Del_p.E167fs|RXFP1_uc011cja.2_Frame_Shift_Del_p.E194fs|RXFP1_uc010iqo.3_Frame_Shift_Del_p.E299fs|RXFP1_uc011cjb.2_Frame_Shift_Del_p.E245fs|RXFP1_uc011cjc.2_Frame_Shift_Del_p.E218fs|RXFP1_uc011cjd.2_Frame_Shift_Del_p.E218fs|RXFP1_uc010iql.3_Frame_Shift_Del_p.E143fs|RXFP1_uc011cje.2_Frame_Shift_Del_p.E326fs|RXFP1_uc010iqm.3_Frame_Shift_Del_p.E266fs|RXFP1_uc011cjf.2_Frame_Shift_Del_p.E169fs|RXFP1_uc010iqn.3_Frame_Shift_Del_p.E245fs	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	299						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.D298N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAACTGGATGAATTGTAAGTA	0.264													11	31	---	---	---	---					
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr12:120595737_120595739delCTC	uc001txo.3	-	25	3014_3016	c.3001_3003delGAG	c.(3001-3003)gagdel	p.E1001del	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1001					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631													7	121	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7788212	7788214	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr17:7788212_7788214delGAG	uc002gjd.2	+	0	90_92	c.88_90delGAG	c.(88-90)gagdel	p.E35del		NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	450					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				agagggcgacgaggaggaggagg	0.685													3	6	---	---	---	---					
CACNA1A	773	broad.mit.edu	37	19	13319691	13319692	+	In_Frame_Ins	INS	-	GGT	GGT	rs16052		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:13319691_13319692insGGT	uc002mwy.3	-	45	6894_6895	c.6658_6659insACC	c.(6658-6660)ccc>cACCcc	p.2219_2220insH	CACNA1A_uc002mwx.3_In_Frame_Ins_p.913_914insH|CACNA1A_uc010dzc.2_In_Frame_Ins_p.1745_1746insH|CACNA1A_uc010xnd.2_In_Frame_Ins_p.2222_2223insH|CACNA1A_uc021ups.1_In_Frame_Ins_p.2219_2220insH|CACNA1A_uc010xne.2_In_Frame_Ins_p.2222_2223insH|CACNA1A_uc010dze.2_In_Frame_Ins_p.2219_2220insH|CACNA1A_uc021upt.1_In_Frame_Ins_p.2220_2221insH|CACNA1A_uc002mwv.3_In_Frame_Ins_p.724_725insH	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	2220	Poly-His.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGGGGGCGGGGGAtggtggtgg	0.733													2	4	---	---	---	---					
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:19136394delT	uc002nkz.1	-	2	825	c.805delA	c.(805-807)atafs	p.I269fs	SUGP2_uc002nkx.2_Frame_Shift_Del_p.I255fs|SUGP2_uc002nla.1_Frame_Shift_Del_p.I255fs|SUGP2_uc002nlb.2_Frame_Shift_Del_p.I255fs|SUGP2_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	255					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502													9	213	---	---	---	---					
