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
LIPI	149998	broad.mit.edu	37	21	15561431	15561431	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:15561431G>C	uc002yjm.3	-	1	429	c.419C>G	c.(418-420)aCt>aGt	p.T140S	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.T119S|LIPI_uc021whh.1_Missense_Mutation_p.T119S|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.T119S|LIPI_uc021whe.1_Missense_Mutation_p.T119S|LIPI_uc021whf.1_Missense_Mutation_p.T119S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	119					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAAAGTTGTAGCACC	0.363000													52	66					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107454952	107454952	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chrX:107454952C>T	uc004enw.4	-	6	566	c.463G>A	c.(463-465)Gga>Aga	p.G155R	COL4A6_uc004env.4_Missense_Mutation_p.G154R|COL4A6_uc011msn.2_Missense_Mutation_p.G154R|COL4A6_uc010npk.3_Missense_Mutation_p.G154R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	155	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTTGATCCTTTCTGACCA	0.403000									Alport syndrome with Diffuse Leiomyomatosis				4	97					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117012	117012	+	RNA	SNP	C	C	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chrGL000205.1:117012C>A	uc002kgk.4	+	0		c.390C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACCAAAGAAGCTGTATTCCCT	0.478000													4	13					0.00909568	0.00909568	1	1	0
NCOR1	9611	broad.mit.edu	37	17	15974805	15974805	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:15974805T>C	uc002gpo.3	-	29	4339	c.4070A>G	c.(4069-4071)cAa>cGa	p.Q1357R	NCOR1_uc002gpn.3_Missense_Mutation_p.Q1373R|NCOR1_uc002gpp.1_Missense_Mutation_p.Q1264R|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Missense_Mutation_p.Q265R|NCOR1_uc010vwc.2_Missense_Mutation_p.Q168R	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1357	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TAAAATATCTTGCCTTGGAAT	0.453000													253	49					0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48096531	48096531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:48096531C>T	uc001rpr.3	-	1	209	c.93G>A	c.(91-93)tgG>tgA	p.W31*	RPAP3_uc010slk.2_Intron|RPAP3_uc001rps.3_Nonsense_Mutation_p.W31*	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	31							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TGTCTTTTTCCCAGTTTTCTA	0.323000													8	41					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10213033	10213033	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:10213033T>C	uc002gmk.1	-	33	4861	c.4771A>G	c.(4771-4773)Aaa>Gaa	p.K1591E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1591					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGTTTCTTTTTAGCTGCTCG	0.562000													3	16					0	0	1	0	0
ELL3	80237	broad.mit.edu	37	15	44068328	44068328	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:44068328C>T	uc001zsw.1	-	2	593	c.190G>A	c.(190-192)Ggt>Agt	p.G64S	ELL3_uc001zsv.1_Missense_Mutation_p.G18S|ELL3_uc001zsx.1_5'UTR|SERF2_uc001zsy.3_5'Flank|SERF2_uc001zsz.4_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	Homo sapiens elongation factor RNA polymerase II-like 3 (ELL3), mRNA.	64					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGGACCAACCAGGGCCTGGG	0.632000													31	42					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56344812	56344812	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56344812G>A	uc002ivt.3	+	11	2112	c.1796G>A	c.(1795-1797)gGt>gAt	p.G599D	LPO_uc010wns.2_Missense_Mutation_p.G540D|LPO_uc010dcp.3_Missense_Mutation_p.G516D|LPO_uc010dcq.3_Missense_Mutation_p.G270D|LPO_uc010dcr.3_Missense_Mutation_p.G162D	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	599					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AAGTTACTGGGTCTCTACGGG	0.572000													65	65					0	0	1	0	0
SNRPB2	6629	broad.mit.edu	37	20	16712312	16712312	+	Splice_Site	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:16712312G>C	uc002wph.2	+	2	202	c.-34_splice	c.e2-1		SNRPB2_uc002wpi.2_Splice_Site	NM_003092	NP_937863	P08579	RU2B_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA.							U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTTTATAACAGATTTTTTACT	0.303000													19	104					0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139917069	139917069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:139917069C>T	uc003lfs.2	+	30	7277	c.7123C>T	c.(7123-7125)Cga>Tga	p.R2375*	ANKHD1-EIF4EBP3_uc003lfr.3_Nonsense_Mutation_p.R2375*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.R1131*|ANKHD1-EIF4EBP3_uc003lfw.3_Nonsense_Mutation_p.R1030*|ANKHD1-EIF4EBP3_uc010jfl.3_Nonsense_Mutation_p.R751*|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.R529*	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2375						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACTGGCCCGAATTCGGCA	0.552000													54	7					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76241856	76241856	+	Silent	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:76241856A>G	uc010ask.2	+	22	2483	c.2208A>G	c.(2206-2208)gcA>gcG	p.A736A	TTLL5_uc001xrx.3_Silent_p.A722A|TTLL5_uc001xrz.3_Silent_p.A297A|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	722					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCAAGCGAGCATCAAATAACC	0.463000													130	175					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64437269	64437269	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:64437269G>A	uc010ssp.1	+	5	771	c.715G>A	c.(715-717)Gca>Aca	p.A239T	SRGAP1_uc001srt.3_Missense_Mutation_p.A239T|SRGAP1_uc001srv.2_Missense_Mutation_p.A199T	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	239					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCAATTAAGGCACGGAACGA	0.348000													42	9					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626123	142626123	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr7:142626123A>G	uc003wby.1	-	4	844	c.580T>C	c.(580-582)Tcc>Ccc	p.S194P	TRPV5_uc003wbz.3_Missense_Mutation_p.S194P	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	194					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTACCCAGGGAGTCCTGGGCC	0.612000													9	42					0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41045922	41045922	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:41045922C>T	uc003jmj.4	-	17	2252	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	HEATR7B2_uc003jmi.4_Missense_Mutation_p.V143M	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	588							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTCCAGGCCACATCACTGATC	0.433000													35	235					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154145322	154145322	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr3:154145322G>A	uc003faa.3	-	1	1257	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	386						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCCATCGGACGCCACTGCATA	0.488000													37	6					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44143869	44143869	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:44143869C>G	uc003owt.1	+	7	934	c.896C>G	c.(895-897)tCt>tGt	p.S299C	CAPN11_uc011dvn.2_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	299	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGCTTACTCTGTGACTGGC	0.542000													17	31					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464637	2464637	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:2464637G>C	uc002wge.1	-	5	1458	c.970C>G	c.(970-972)Cct>Gct	p.P324A	ZNF343_uc010gao.1_Missense_Mutation_p.P324A|ZNF343_uc002wgd.1_Missense_Mutation_p.P234A	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACAAATAAGGCTTCTCTTCT	0.493000													16	51					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:95142932G>A	uc003ygh.2	-	16	2445	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.R774W	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	774	Cadherin 7.					integral to membrane	calcium ion binding	p.R774W(2)|p.R774Q(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448000													30	119					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4578457	4578457	+	Silent	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:4578457C>G	uc002fyi.4	-	10	1417	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	PELP1_uc010vsf.2_Silent_p.L250L	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	397					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGCGGCCGATCAGGATCCCAA	0.607000													7	22					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25011062	25011062	+	Missense_Mutation	SNP	C	C	G	rs138472970	by1000genomes	TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr22:25011062C>G	uc003aan.1	+	6	837	c.350C>G	c.(349-351)aCc>aGc	p.T117S	GGT1_uc003aas.1_Missense_Mutation_p.T117S|GGT1_uc003aat.1_Missense_Mutation_p.T117S|GGT1_uc003aau.2_Missense_Mutation_p.T117S|GGT1_uc003aav.2_Missense_Mutation_p.T117S|GGT1_uc003aaw.2_Missense_Mutation_p.T117S|GGT1_uc003aax.2_Missense_Mutation_p.T117S	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	117					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	p.T117S(16)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCTTTGCCACCATGTTCAAC	0.637000													2	40					0	0	1	0	0
NAP1L1	4673	broad.mit.edu	37	12	76453623	76453623	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:76453623C>T	uc001sxw.2	-	5	796	c.384G>A	c.(382-384)acG>acA	p.T128T	NAP1L1_uc001sxz.2_Intron|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc001sxx.2_Silent_p.T128T|NAP1L1_uc010sty.1_Silent_p.T86T|NAP1L1_uc010sua.1_Silent_p.T128T|NAP1L1_uc001syb.3_Silent_p.T128T	NM_139207	NP_631946	P55209	NP1L1_HUMAN	Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.	128					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	p.T128M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ATTCTTCTTCCGTAGGTTCAT	0.308000													41	19					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57919602	57919602	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:57919602C>T	uc001soj.1	+	5	1075	c.851C>T	c.(850-852)cCt>cTt	p.P284L	MBD6_uc001sok.1_Missense_Mutation_p.P151L|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	284	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CACCCTGGTCCTGCCTCTCAG	0.672000													7	22					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60150653	60150653	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:60150653C>T	uc001npe.3	+	1	184	c.39C>T	c.(37-39)agC>agT	p.S13S	MS4A7_uc001npf.3_Silent_p.S13S|MS4A7_uc001npg.3_Silent_p.S13S|MS4A7_uc001nph.3_Silent_p.S13S|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.S13S	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	13						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTTCTCACAGCTTTACACCAA	0.463000													5	79					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55659044	55659044	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:55659044A>T	uc010rip.2	+	6	1387	c.1295A>T	c.(1294-1296)tAc>tTc	p.Y432F	TRIM51_uc010riq.2_Missense_Mutation_p.Y289F	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	432	B30.2/SPRY.					intracellular	zinc ion binding										TCCCTGATATACACCATCCCC	0.453000													6	119					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15555741	15555741	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:15555741C>G	uc002rcc.1	-	24	2892	c.2866G>C	c.(2866-2868)Gaa>Caa	p.E956Q	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	956								p.K955N(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTAAATATTCTTTTAATAGC	0.368000													87	108					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231314895	231314895	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:231314895G>A	uc002vqt.3	+	7	886	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SP100_uc002vqs.3_Missense_Mutation_p.E249K|SP100_uc002vqu.1_Missense_Mutation_p.E249K|SP100_uc010zmb.2_Missense_Mutation_p.E249K|SP100_uc002vqq.2_Missense_Mutation_p.E249K|SP100_uc010zmc.2_Missense_Mutation_p.E224K|SP100_uc002vqv.2_Missense_Mutation_p.E214K	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	249					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGTCCTGCGAACAAATTGC	0.473000													75	59					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172156	78172156	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:78172156G>T	uc003pil.1	-	0	965	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	322					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CACAATAAAGGCTCCCAAAAT	0.507000													103	119					1.22879e-52	1.26975e-52	1	1	0
ACLY	47	broad.mit.edu	37	17	40030158	40030158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:40030158G>A	uc002hyg.3	-	22	2711	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	ACLY_uc002hyh.3_Nonsense_Mutation_p.Q840*|ACLY_uc002hyi.3_Nonsense_Mutation_p.Q904*|ACLY_uc010wfx.2_Nonsense_Mutation_p.Q894*|ACLY_uc010wfy.2_Nonsense_Mutation_p.Q579*	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	850					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATGAGCTCCTGTCCTCGCTCA	0.592000													22	89					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48729544	48729544	+	Silent	SNP	G	G	T	rs112989722		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:48729544G>T	uc001zwx.2	-	51	6749	c.6354C>A	c.(6352-6354)atC>atA	p.I2118I	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2118					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTCCCACGATGATCCCAC	0.423000													32	9					4.3181e-19	4.38889e-19	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247582222	247582222	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:247582222G>A	uc001icr.3	+	2	264	c.126G>A	c.(124-126)ccG>ccA	p.P42P	NLRP3_uc001ics.3_Silent_p.P42P|NLRP3_uc001icu.3_Silent_p.P42P|NLRP3_uc001icw.3_Silent_p.P42P|NLRP3_uc001icv.3_Silent_p.P42P|NLRP3_uc010pyw.2_Silent_p.P40P|NLRP3_uc001ict.1_Silent_p.P40P	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	42	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.P42Q(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCCCCTCCCGAGGGGTCAGA	0.562000													34	52					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3784173	3784173	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:3784173G>A	uc002lyt.3	-	4	711	c.311C>T	c.(310-312)gCg>gTg	p.A104V	MATK_uc002lyv.3_Missense_Mutation_p.A105V|MATK_uc002lyu.3_Missense_Mutation_p.A63V|MATK_uc010dtq.3_Missense_Mutation_p.A104V	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	104	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCAGCGCCCCAGCTGC	0.682000													21	21					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr9:141070687C>T	uc010ncq.3	+	4	1462	c.622C>T	c.(622-624)Caa>Taa	p.Q208*						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		ACAACTGGGCCAAGGGACGCT	0.577000													4	5					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207310230	207310230	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:207310230C>G	uc002vbq.3	+	1	637	c.414C>G	c.(412-414)caC>caG	p.H138Q	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	138					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGCAAGACACCAGCAAAAAC	0.398000													44	100					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:39183145A>G	uc002hvu.3	-	0	310	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	Homo sapiens keratin associated protein 1-5 (KRTAP1-5), mRNA.	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(22)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	35					0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16280488	16280488	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:16280488C>T	uc002nds.3	-	2	151	c.151G>A	c.(151-153)Gat>Aat	p.D51N	CIB3_uc010eae.3_5'UTR|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	51							calcium ion binding	p.D51N(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						ACCTTCACATCGGGGCAGGTG	0.562000													5	83					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138346	31138346	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:31138346G>A	uc010qdz.2	-	6	1423	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	ZNF438_uc001ivn.3_Missense_Mutation_p.P281S|ZNF438_uc010qdy.2_Missense_Mutation_p.P320S|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Missense_Mutation_p.P330S|ZNF438_uc001ivp.4_Missense_Mutation_p.P320S|ZNF438_uc010qea.2_Missense_Mutation_p.P330S|ZNF438_uc010qeb.2_Missense_Mutation_p.P330S|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTGGTGGAGGGTATCTTATCA	0.463000													24	226					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22166420	22166420	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:22166420C>T	uc009vqd.3	-	71	9647	c.9607G>A	c.(9607-9609)Gtg>Atg	p.V3203M	HSPG2_uc001bfj.3_Missense_Mutation_p.V3202M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3202	Ig-like C2-type 17.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCGTGTCCACGATCACCTCC	0.587000													112	181					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789719	80789719	+	Silent	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:80789719G>C	uc002kga.3	-	1	923	c.612C>G	c.(610-612)ggC>ggG	p.G204G	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	204						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCAGGGGTAGCCAGGAGTGT	0.577000													11	99					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035632	37035632	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:37035632C>T	uc002rpl.3	+	14	1709	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	VIT_uc002rpm.3_Silent_p.N454N|VIT_uc010ezv.3_Silent_p.N432N|VIT_uc010ezw.3_Silent_p.N433N	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	454	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCAGAACAAACGGCTTCTACT	0.622000													24	51					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075656	83075656	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:83075656G>A	uc003pjn.4	+	2	1914	c.978G>A	c.(976-978)ccG>ccA	p.P326P	TPBG_uc003pjo.3_Silent_p.P326P|TPBG_uc021zcc.1_Silent_p.P326P	NM_006670	NP_006661	Q13641	TPBG_HUMAN	Homo sapiens trophoblast glycoprotein (TPBG), transcript variant 1, mRNA.	326	LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GTGCATATCCGGAAAAAATGA	0.542000													47	105					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35709170	35709170	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:35709170A>G	uc003jjo.3	+	18	2897	c.2786A>G	c.(2785-2787)cAt>cGt	p.H929R	SPEF2_uc003jjq.4_Missense_Mutation_p.H924R|SPEF2_uc003jjp.1_Missense_Mutation_p.H415R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	929					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGAAATTCATCAAAGCCAT	0.418000													21	145					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47978201	47978201	+	Silent	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:47978201T>C	uc002zjo.2	+	31	4047	c.3864T>C	c.(3862-3864)atT>atC	p.I1288I	DIP2A_uc011afz.1_Silent_p.I1284I|DIP2A_uc002zjr.3_Silent_p.I255I|DIP2A_uc002zjs.2_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1288					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCCCAGGATTGCGCTGACCC	0.667000													6	22					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36015811	36015811	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:36015811C>T	uc002oad.2	-	1	1724	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	SBSN_uc002oae.2_Missense_Mutation_p.G209R|SBSN_uc021usp.1_Missense_Mutation_p.G131R	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	209						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGGAAGATCCGCTTTGATGG	0.612000													8	24					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71720101	71720101	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:71720101T>C	uc001orl.1	-	18	5142	c.4970A>G	c.(4969-4971)cAt>cGt	p.H1657R	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Missense_Mutation_p.H1206R|NUMA1_uc001ork.1_Missense_Mutation_p.H521R|NUMA1_uc001orm.1_Missense_Mutation_p.H1643R|NUMA1_uc001orn.2_Missense_Mutation_p.H1220R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1657					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGTAGCTCATGGCCCAGCCG	0.592000			T	RARA	APL								26	43					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355208	56355208	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56355208C>T	uc002ivu.1	-	6	1361	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	395					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCAGGGGATGCGCGCTGAGCG	0.617000													5	90					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	RNA	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:11014987A>G	uc002yis.1	-	6		c.1459T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGTTTCAATAGCAGACT	0.388000													3	48					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61315601	61315601	+	Silent	SNP	A	A	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:61315601A>C	uc002saw.4	+	9	1389	c.1086A>C	c.(1084-1086)atA>atC	p.I362I	KIAA1841_uc002sax.4_Silent_p.I216I|KIAA1841_uc002say.3_Silent_p.I362I|KIAA1841_uc002sav.4_Silent_p.I362I	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	362										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATATTCACATAAGGTGTCGTG	0.328000													35	26					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4626616	4626616	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:4626616A>G	uc001lzf.2	-	1	409	c.119T>C	c.(118-120)cTc>cCc	p.L40P	TRIM68_uc010qyj.2_Intron|TRIM68_uc009yek.2_Missense_Mutation_p.L40P	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	40					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGTCCAGAGAGACAGCTGTG	0.572000													46	21					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	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								21	60					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047524	73047524	+	RNA	SNP	A	A	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chrX:73047524A>T	uc004ebn.2	+	0		c.35485A>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GAGAAAGGAGAGGTAGACAGA	0.408000													9	5					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:7577574T>C	uc002gim.2	-	6	901	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.3_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(113)|p.N235S(14)|p.Y236N(12)|p.Y236*(10)|p.Y236H(9)|p.Y236del(8)|p.0?(8)|p.Y236D(7)|p.N235D(7)|p.Y236S(6)|p.?(5)|p.Y143C(5)|p.N235I(4)|p.Y236fs*4(3)|p.N235T(3)|p.N235fs*5(2)|p.Y236_M243delYMCNSSCM(2)|p.N235Y(2)|p.N235fs*12(2)|p.Y236Y(2)|p.Y236_M237delYM(2)|p.I232_Y236delIHYNY(2)|p.H233_C242del10(2)|p.N235_Y236delNY(2)|p.N235del(2)|p.N235fs*6(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.Y236_M237insXX(1)|p.N235>XX(1)|p.N235M(1)|p.H233fs*6(1)|p.N235H(1)|p.Y234_N235insX(1)|p.Y236fs*5(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)		GTTACACATGTAGTTGTAGTG	0.572000		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)			86	10					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202211	6202212	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:6202211_6202212insA	uc001amb.2	-	14	2523_2524	c.2412_2413insT	c.(2410-2415)agtgggfs	p.S804fs	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	804	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACCTTCTTCCCACTCCGAATGG	0.599													115	202	---	---	---	---					
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													4	4	---	---	---	---					
RNF139	11236	broad.mit.edu	37	8	125498877	125498880	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:125498877_125498880delTTTA	uc003yrc.3	+	1	1330_1333	c.987_990delTTTA	c.(985-990)gttttafs	p.V329fs		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	Homo sapiens ring finger protein 139 (RNF139), mRNA.	329					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGCACCTGTTTTATTTTTTATTT	0.412													53	506	---	---	---	---					
