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
SYTL4	94121	broad.mit.edu	37	X	99956505	99956505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:99956505C>T	uc004egd.4	-	4	631	c.275G>A	c.(274-276)cGc>cAc	p.R92H	SYTL4_uc010nnc.3_Missense_Mutation_p.R92H|SYTL4_uc004ege.4_Missense_Mutation_p.R92H|SYTL4_uc004egf.4_Missense_Mutation_p.R92H|SYTL4_uc004egg.4_Missense_Mutation_p.R92H	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	92	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTGTATGCGGCAGTCCCG	0.582000													60	97					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302314	123302314	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:123302314C>A	uc003vky.2	+	1	831	c.674C>A	c.(673-675)aCa>aAa	p.T225K		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	225						cytoskeleton	actin binding|tropomyosin binding										GAGAACATCACAACACAGACC	0.488000													9	70					0.000673444	0.00070603	1	1	0
IL2RA	3559	broad.mit.edu	37	10	6061422	6061422	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:6061422C>T	uc001iiz.2	-	5	915	c.696G>A	c.(694-696)acG>acA	p.T232T	IL2RA_uc009xih.2_Silent_p.T160T|IL2RA_uc001ija.1_Silent_p.T98T	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	232					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TAAATATGGACGTCTCCATGG	0.468000													31	79					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104984622	104984622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:104984622A>G	uc004elz.1	+	7	1742	c.986A>G	c.(985-987)tAt>tGt	p.Y329C		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	329	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGGCGAATTATACCTGCCAT	0.393000													31	38					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65118664	65118664	+	Missense_Mutation	SNP	T	T	C	rs149642804	by1000genomes	TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:65118664T>C	uc003juf.3	+	12	2214	c.2036T>C	c.(2035-2037)aTg>aCg	p.M679T	NLN_uc010iww.3_Missense_Mutation_p.M356T	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	679					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CTGGACGGCATGGACATGCTC	0.433000													70	60					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135535105	135535105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr9:135535105G>A	uc004cbq.1	-	4	982	c.830C>T	c.(829-831)aCg>aTg	p.T277M	DDX31_uc010mzu.1_Missense_Mutation_p.T277M|DDX31_uc004cbr.1_Missense_Mutation_p.T277M|DDX31_uc004cbs.2_Missense_Mutation_p.T277M	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	277	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACCTGAGCCCGTCTGGGATCT	0.498000													5	17					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74021734	74021734	+	Splice_Site	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:74021734A>G	uc003hgp.3	-	4	969	c.852_splice	c.e4+1	p.Q284_splice	ANKRD17_uc003hgo.3_Splice_Site_p.Q171_splice|ANKRD17_uc003hgq.3_Splice_Site_p.Q284_splice|ANKRD17_uc003hgr.3_Splice_Site_p.Q284_splice|ANKRD17_uc011cbd.1_5'Flank	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	284					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATAATACGAACCTGTGCAAG	0.353000													26	51					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915402	46915402	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46915402G>A	uc002pep.3	-	0	1518	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	222						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCGGGCCTCGCCCACCCCGG	0.701000													8	32					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135572458	135572458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:135572458G>T	uc004ezv.1	+	1	750	c.601G>T	c.(601-603)Gaa>Taa	p.E201*		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	201					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TATGACATTTGAATCATGTAC	0.373000													5	51					5.9392e-07	6.43413e-07	1	1	0
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46094975G>A	uc002pcm.3	-	1	1095	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.N50N	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617000													15	106					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940084	70940084	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:70940084C>T	uc001jpe.1	+	0	92	c.37C>T	c.(37-39)Ccg>Tcg	p.P13S	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	13					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCTCGGCTCCCGGCGGGGCG	0.687000													12	73					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64684532	64684532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:64684532C>T	uc001obx.3	-	0	191	c.76G>A	c.(76-78)Ggt>Agt	p.G26S	ATG2A_uc010rnt.1_Missense_Mutation_p.G26S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	26							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AAGAAGTGACCTAAGTAGTGG	0.597000													10	73					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97217809	97217809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:97217809C>T	uc002swe.3	+	6	1644	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L	ARID5A_uc010yuq.2_Missense_Mutation_p.P463L|ARID5A_uc002swf.3_Missense_Mutation_p.P351L|ARID5A_uc002swg.3_Missense_Mutation_p.P463L	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	515					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTGGCACCCCGGGCCCCTTG	0.721000													46	66					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672219	45672219	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:45672219G>A	uc021qgn.1	-	0	255	c.255C>T	c.(253-255)gaC>gaT	p.D85D	CHST1_uc001mys.2_Silent_p.D85D	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	85					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTAGAAGACGTCCAGGTGCT	0.642000													22	100					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	A	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000													5	56					0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74203029	74203029	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:74203029G>A	uc003ubb.3	+	9	1102	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	344	Arg/Lys-rich (highly basic).				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	NADPH oxidase complex|cytosol|soluble fraction	GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CGGGACCGCAGAGCCCCGGGA	0.726000													5	14					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136646967	136646967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:136646967C>T	uc003erh.3	+	1	254	c.124C>T	c.(124-126)Cga>Tga	p.R42*	NCK1_uc011bme.2_5'Flank	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	42	SH3 1.				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGGCGAGTTCGAAATTCCAT	0.393000													15	99					0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116710901	116710901	+	Missense_Mutation	SNP	G	G	T	rs139774976		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:116710901G>T	uc001lcd.3	+	2	495	c.434G>T	c.(433-435)gGg>gTg	p.G145V	TRUB1_uc010qsl.2_Missense_Mutation_p.G47V	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	145					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATGTTGTCAGGGTCCAAGGTA	0.299000													17	80					2.94398e-08	3.24337e-08	1	1	0
MYH8	4626	broad.mit.edu	37	17	10304026	10304026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:10304026C>T	uc002gmm.2	-	26	3511	c.3416G>A	c.(3415-3417)cGc>cAc	p.R1139H	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1139					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGGTCAGAGCGCTGCTTCTC	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				24	126					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13867993	13867993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:13867993C>T	uc003jfd.2	-	24	3985	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1315	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGGACTTCGCCAGCACGT	0.453000									Kartagener syndrome				20	79					0	0	1	0	0
NFYB	4801	broad.mit.edu	37	12	104517157	104517157	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:104517157C>T	uc001tkl.1	-	4	477	c.276G>A	c.(274-276)gaG>gaA	p.E92E		NM_006166	NP_006157	P25208	NFYB_HUMAN	Homo sapiens nuclear transcription factor Y, beta (NFYB), mRNA.	92	B domain.|Subunit association domain (SAD) (By similarity).					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						AACTGATGAACTCACTTACAC	0.343000													18	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:9046871G>A	uc002mkp.3	-	4	34964	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11589	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAAACCGTTGTGCTGGT	0.522000													15	54					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676715	100676715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:100676715C>T	uc003uxp.1	+	2	2071	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	673	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTACAACTGCGGAAGGTACC	0.502000													75	883					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501464	55501464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:55501464C>T	uc021vbq.1	+	8	2552	c.2441C>T	c.(2440-2442)aCg>aTg	p.T814M	NLRP2_uc010yfp.2_Missense_Mutation_p.T791M|NLRP2_uc002qij.3_Missense_Mutation_p.T814M|NLRP2_uc010esp.3_Missense_Mutation_p.T792M|NLRP2_uc010esn.3_Missense_Mutation_p.T790M|NLRP2_uc010eso.3_Missense_Mutation_p.T811M	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	814					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGTCCCTGACGTGCGTAAAC	0.517000													46	52					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940844	144940844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr8:144940844G>A	uc003zaa.1	-	0	6591	c.6578C>T	c.(6577-6579)aCg>aTg	p.T2193M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2193						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATTTCCTCCGTGATTATGGC	0.552000													86	298					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170752	113170752	+	Silent	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr9:113170752A>G	uc010mtz.3	-	37	7465	c.7128T>C	c.(7126-7128)tgT>tgC	p.C2376C	SVEP1_uc010mty.3_Silent_p.C302C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2376	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.F2376F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACAATCTTACAAACAGGGA	0.453000													5	39					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47835985	47835985	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:47835985C>G	uc002xuh.3	+	0	154	c.93C>G	c.(91-93)aaC>aaG	p.N31K		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	31						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.N31D(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGCGACAACATGCTTGCGG	0.602000													19	25					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								29	29					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50203968	50203968	+	Silent	SNP	G	G	A	rs141969670		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:50203968G>A	uc010eng.3	+	4	625	c.309G>A	c.(307-309)ggG>ggA	p.G103G	CPT1C_uc002ppl.4_Silent_p.G103G|CPT1C_uc002ppi.3_Silent_p.G20G|CPT1C_uc002ppk.3_Silent_p.G103G|CPT1C_uc010enh.3_Silent_p.G103G|CPT1C_uc002ppj.3_Silent_p.G103G|CPT1C_uc010ybc.1_Intron	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	103					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCTCCGGGGGGTCCTGGCAG	0.662000													18	178					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132051153	132051153	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:132051153A>G	uc010htp.2	+	3	511	c.421A>G	c.(421-423)Atc>Gtc	p.I141V	ACPP_uc003eon.3_Missense_Mutation_p.I141V|ACPP_uc003eop.4_Missense_Mutation_p.I141V	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	141						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGGCAGCCCATCCCGGTGCA	0.507000													42	56					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755717	242755717	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:242755717C>T	uc002wcp.2	+	1	569	c.75C>T	c.(73-75)ctC>ctT	p.L25L	NEU4_uc010fzr.3_Silent_p.L12L|NEU4_uc002wcm.3_Silent_p.L12L|NEU4_uc002wco.2_Silent_p.L12L|NEU4_uc002wcn.2_Silent_p.L24L	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	12						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGACAGTGCTCTTCGAGCGGG	0.697000													9	44					0	0	1	0	0
HSPA9	3313	broad.mit.edu	37	5	137906680	137906680	+	Nonsense_Mutation	SNP	G	G	A	rs35091799		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:137906680G>A	uc003ldf.3	-	3	690	c.379C>T	c.(379-381)Cga>Tga	p.R127*	HSPA9_uc011cyw.2_Nonsense_Mutation_p.R58*	NM_004134	NP_004125	P38646	GRP75_HUMAN	Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA.	127			R -> G (in dbSNP:rs35091799).		anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCATCATATCGCCGGCCAATG	0.463000													14	127					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493188	33493188	+	Missense_Mutation	SNP	T	T	A	rs141887475	by1000genomes	TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:33493188T>A	uc002nuf.3	-	8	1136	c.1070A>T	c.(1069-1071)cAc>cTc	p.H357L	RHPN2_uc010xro.2_Missense_Mutation_p.H206L|RHPN2_uc002nue.3_Missense_Mutation_p.H87L	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	357	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.H357L(4)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTGAAGTAGTGGGCCAGGGC	0.647000													5	55					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347104	71347104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:71347104C>T	uc011cat.2	+	3	931	c.643C>T	c.(643-645)Cca>Tca	p.P215S	MUC7_uc011cau.2_Missense_Mutation_p.P215S|MUC7_uc003hfj.3_Missense_Mutation_p.P215S	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	215	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACAGCTGCCCCACCCACACC	0.597000													105	71					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	883983	883983	+	Splice_Site	SNP	T	T	C			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:883983T>C	uc009vjq.3	-	13	1503	c.1444_splice	c.e13-1	p.M482_splice	NOC2L_uc001aby.4_Splice_Site_p.M279_splice|NOC2L_uc001abz.4_Splice_Site_p.M482_splice	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	482						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGCTGGAACATCTGCCCCAAG	0.622000													17	21					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12886385	12886385	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:12886385G>A	uc021qdx.1	+	5	888	c.268_splice	c.e5-1	p.V90_splice	TEAD1_uc009ygk.3_Non-coding_Transcript	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	90					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TACCCTGCAGGTGTCTAGTCA	0.478000													8	102					0	0	1	0	0
VEGFB	7423	broad.mit.edu	37	11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:64005040A>C	uc001nyw.3	+	5	809	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_uc001nyx.3_Missense_Mutation_p.D153A	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706000													9	20					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44089249	44089249	+	Silent	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:44089249G>T	uc009yks.1	+	1	216	c.72G>T	c.(70-72)ctG>ctT	p.L24L	ACCS_uc010rfm.1_5'UTR|ACCS_uc010rfn.2_Silent_p.L24L|ACCS_uc001mxx.2_Silent_p.L24L	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	24							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGCAGGACCTGGGCAGTAGCC	0.567000													19	69					3.99206e-14	4.55235e-14	1	1	0
ODZ3	55714	broad.mit.edu	37	4	183651451	183651451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:183651451C>T	uc003ivd.1	+	13	2759	c.2684C>T	c.(2683-2685)aCt>aTt	p.T895I	ODZ3_uc003ive.1_Missense_Mutation_p.T301I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	895					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TATGGATATACTATTACCCGC	0.418000													23	48					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32867885	32867885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:32867885C>T	uc004dda.1	-	2	390	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Missense_Mutation_p.R45H|DMD_uc004ddb.1_Missense_Mutation_p.R41H|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.R41H|DMD_uc010ngq.1_Non-coding_Transcript|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	49	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCTAGGAGGCGCCTCCCATC	0.393000													8	64					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21030809	21030809	+	Silent	SNP	C	C	T	rs145036538		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:21030809C>T	uc010sil.2	+	7	1139	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	SLCO1B3_uc001rek.3_Silent_p.Y358Y|SLCO1B3_uc001rel.3_Silent_p.Y358Y|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	358					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTTTACTTACGTCTTTAAAT	0.338000													13	51					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153208402	153208402	+	Missense_Mutation	SNP	G	G	T	rs149476338		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:153208402G>T	uc004fjo.2	-	5	762	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	RENBP_uc011mzh.1_Missense_Mutation_p.L198M	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	198	Leucine-zipper.				mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGCTCCACCAGGTTCAGTAGC	0.701000													13	166					0.00244969	0.00252746	1	1	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	A	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000													4	11					0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206711607	206711607	+	Silent	SNP	C	C	T	rs138095666		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:206711607C>T	uc001hed.3	+	1	621	c.564C>T	c.(562-564)acC>acT	p.T188T	RASSF5_uc001hec.1_Silent_p.T188T|RASSF5_uc001hee.3_Silent_p.T188T	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	188					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCACCCTCACCGTGACCTTCA	0.592000													68	97					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107435	6107435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:6107435G>A	uc010idb.1	-	2	875	c.389C>T	c.(388-390)aCg>aTg	p.T130M	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.T130M|JAKMIP1_uc003giu.4_Missense_Mutation_p.T130M|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.T130M|JAKMIP1_uc010ide.3_Missense_Mutation_p.T130M	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	130	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.T130T(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCAGCGCCGTCTTGACCTT	0.716000													3	23					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8201077	8201077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:8201077C>T	uc002mjf.3	-	10	1479	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	488	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCGTACCCACGCATGCCTGC	0.667000													10	83					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42814703	42814703	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:42814703G>A	uc002oti.3	+	2	1260	c.882G>A	c.(880-882)acG>acA	p.T294T	PRR19_uc002oth.1_3'UTR|PRR19_uc002otj.3_Silent_p.T294T|TMEM145_uc002otk.1_5'Flank	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	294	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGGTAGCCACGCCACCCCCTC	0.627000													11	165					0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37339288	37339288	+	Splice_Site	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr6:37339288G>T	uc003onq.4	+	4	1169	c.976_splice	c.e4-1	p.G326_splice	RNF8_uc003onr.4_Splice_Site_p.G326_splice|RNF8_uc011dtx.2_Splice_Site_p.G258_splice	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	326	Gln-rich.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GGCTTTGCAGGGTTTGGAGAT	0.468000													7	64					1.26484e-09	1.4175e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179517223	179517223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:179517223G>A	uc021vsy.1	-	155	32012	c.31787C>T	c.(31786-31788)gCg>gTg	p.A10596V	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11523	Glu-rich.|Pro-rich.						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)			AGGAGGAGCCGCTGGCACTTT	0.378000													11	178					0	0	1	0	0
EVI2B	2124	broad.mit.edu	37	17	29632058	29632058	+	Missense_Mutation	SNP	A	A	C	rs142498190		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:29632058A>C	uc010csq.2	-	2	798	c.615T>G	c.(613-615)agT>agG	p.S205R	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.S190R|EVI2B_uc021tuk.1_Missense_Mutation_p.S190R	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	190						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTTGTTTGTTACTGGTAGTAT	0.338000													11	137					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													6	54					0	0	1	0	0
PHF17	79960	broad.mit.edu	37	4	129792755	129792755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:129792755G>A	uc011cgy.2	+	10	2181	c.1867G>A	c.(1867-1869)Ggg>Agg	p.G623R	PHF17_uc003igk.3_Missense_Mutation_p.G623R|PHF17_uc003igl.3_Missense_Mutation_p.G611R	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	623					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TAGAAGGGAGGGGATGGTGGT	0.498000													15	68					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918277	154918277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:154918277G>A	uc001ffr.3	-	9	1932	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	PBXIP1_uc001ffs.3_Missense_Mutation_p.R596W|PBXIP1_uc010pep.2_Missense_Mutation_p.R470W	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	625					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGGGCAGCCGTGCCAAGTAT	0.617000													10	100					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574034	7574034	+	Splice_Site	SNP	C	C	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:7574034C>G	uc002gim.2	-	10	1188	c.994_splice	c.e10-1	p.I332_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_Splice_Site|TP53_uc010cnf.1_Splice_Site|TP53_uc002gii.1_Splice_Site_p.I200_splice|TP53_uc010cni.1_Splice_Site|TP53_uc010cnh.1_Splice_Site|TP53_uc002gij.2_Splice_Site_p.I332_splice|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	332	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		I -> V (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(9)|p.0?(8)|p.I332fs*49(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)		GCCCACGGATCTGCAGCAACA	0.512000		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)			29	7					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42204987	42204987	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:42204987C>G	uc002xkv.3	+	9	1216	c.997C>G	c.(997-999)Cag>Gag	p.Q333E	SGK2_uc002xkr.3_Missense_Mutation_p.Q273E|SGK2_uc010ggm.3_Missense_Mutation_p.Q273E|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.Q273E	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	333	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACAAGGACCAGAGGCAGCG	0.607000													6	99					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884655	39884655	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr22:39884655G>A	uc003axv.4	+	1	1542	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	MGAT3_uc010gxy.3_Missense_Mutation_p.A435T	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	435					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCTCGTGTCCGCCCAGAATGG	0.662000													23	38					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100260764	100260766	+	RNA	DEL	TCA	TCA	-			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:100260764_100260766delTCA	uc021xqi.1	-	7		c.1156_1158delTGA				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCAAATCCTTCATTTATTTTTT	0.394													12	57	---	---	---	---					
KATNAL2	83473	broad.mit.edu	37	18	44595881	44595882	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr18:44595881_44595882delTG	uc002lco.3	+	9	896_897	c.702_703delTG	c.(700-705)gctgtgfs	p.A234fs	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	306						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGGCCAAAGCTGTGGCCACTGA	0.426													11	65	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:76937833_76937836delTCTT	uc004ecp.4	-	8	3144_3147	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.K971fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K933fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K756fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K903fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K942fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K916fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	971					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						90	136	---	---	---	---					
