Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ACER1	125981	broad.mit.edu	37	19	6312191	6312191	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr19:6312191A>G	uc002mel.2	-	2	397	c.319T>C	c.(319-321)Tgc>Cgc	p.C107R		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	107						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGGAAATAGCAGCGGGGCATC	0.587000														51			4		0	0	0.003080	0	0
MYO19	80179	broad.mit.edu	37	17	34871758	34871758	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:34871758T>C	uc010wcy.2	-	7	1482	c.490A>G	c.(490-492)Att>Gtt	p.I164V	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.I164V|MYO19_uc010wcz.1_Non-coding_Transcript|MYO19_uc010wda.1_Missense_Mutation_p.I30V|MYO19_uc002hmx.2_Missense_Mutation_p.I164V	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	164	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCTCTGCAATCTTGTGGCTC	0.522000														53			10		0	0	0.013537	0	0
ACSM3	6296	broad.mit.edu	37	16	20787239	20787239	+	Silent	SNP	C	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr16:20787239C>T	uc010vba.2	+	1	349	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	ACSM3_uc002dhq.3_Silent_p.L100L|ACSM3_uc002dhr.3_Silent_p.L100L	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	100					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TTTTGAGGAACTGGGATCTCT	0.458000														170			38		0	0	0.007835	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49059877	49059877	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:49059877A>T	uc003cvq.3	+	1	680	c.176A>T	c.(175-177)tAc>tTc	p.Y59F	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|MIR425_uc011bcb.1_5'Flank|NDUFAF3_uc003cvn.3_Missense_Mutation_p.Y2F|MIR191_uc003cvo.1_5'Flank|NDUFAF3_uc003cvp.3_Missense_Mutation_p.Y2F|NDUFAF3_uc003cvr.3_Missense_Mutation_p.Y2F	NM_199069	NP_951056	Q9BU61	NDUF3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	59					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CAGGCAATGTACATCGACAGC	0.652000														71			20		0	0	0.010504	0	0
MICALL1	85377	broad.mit.edu	37	22	38313744	38313744	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr22:38313744C>T	uc003aui.3	+	3	643	c.368C>T	c.(367-369)gCa>gTa	p.A123V		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	123						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AAGGGCCTTGCACCCTGTTCC	0.622000														69			22		0	0	0.004656	0	0
SPDYE6	729597	broad.mit.edu	37	7	101988946	101988946	+	Silent	SNP	G	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr7:101988946G>A	uc011kkp.2	-	5	1348	c.927C>T	c.(925-927)ctC>ctT	p.L309L	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	309	Arg-rich.																GACGCTTACGGAGCAAGGGTA	0.572000														639			48		0	0	0.014410	0	0
IFIT5	24138	broad.mit.edu	37	10	91177427	91177427	+	Silent	SNP	A	G	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr10:91177427A>G	uc010qnh.2	+	1	702	c.471A>G	c.(469-471)caA>caG	p.Q157Q	IFIT5_uc010qng.1_Silent_p.Q157Q	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA.	157							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AGTATTATCAAAAGGCTAAAG	0.443000														66			21		0	0	0.014323	0	0
HRG	3273	broad.mit.edu	37	3	186383957	186383957	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:186383957A>T	uc003fqq.3	+	0	160	c.137A>T	c.(136-138)tAc>tTc	p.Y46F		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	46	Cystatin 1.|Interaction with ATP5A1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CGGGATGGCTACCTTTTCCAA	0.527000														82			56		0	0	0.014410	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	830	830	+	RNA	SNP	G	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chrGL000237.1:830G>T	uc011mgu.1	-	1		c.388C>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		GCCTCCATGGGTAccctccta	0.587000														16			5		3.59834e-05	7.86303e-05	0.001168	1	0
NADK	65220	broad.mit.edu	37	1	1686870	1686870	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:1686870A>T	uc001aic.3	-	6	853	c.631T>A	c.(631-633)Ttc>Atc	p.F211I	NADK_uc001aid.4_Missense_Mutation_p.F211I|NADK_uc001aie.3_Missense_Mutation_p.F356I|NADK_uc010nyv.2_Missense_Mutation_p.F179I|NADK_uc009vkx.1_Missense_Mutation_p.F89I	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	211					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGGGTCAGGAAGCCCAGGGAG	0.607000														179			37		0	0	0.006999	0	0
CHRNA5	1138	broad.mit.edu	37	15	78885562	78885562	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr15:78885562A>C	uc002bdy.3	+	5	1574	c.1374A>C	c.(1372-1374)ttA>ttC	p.L458F	CHRNA3_uc002beb.3_Intron|CHRNA3_uc002bea.3_Intron|CHRNA3_uc010blg.2_Intron	NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	458					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						CAAATATATTAATACCAGTTC	0.338000														38			12		0	0	0.013537	0	0
ALPI	248	broad.mit.edu	37	2	233322816	233322816	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr2:233322816C>T	uc002vst.4	+	7	1042	c.965C>T	c.(964-966)cCc>cTc	p.P322L	ALPI_uc002vsu.4_Missense_Mutation_p.P233L	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	322					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.N321S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCAGGAACCCCCGCGGCTTC	0.662000														68			22		0	0	0.014323	0	0
HCAR2	338442	broad.mit.edu	37	12	123187395	123187395	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:123187395T>A	uc001ucx.1	-	0	510	c.436A>T	c.(436-438)Atc>Ttc	p.I146F	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	146					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CAAGAGATGATGGCTGCTGTC	0.557000														115			30		0	0	0.008361	0	0
RNF167	26001	broad.mit.edu	37	17	4848277	4848277	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:4848277T>C	uc002fzs.3	+	9	1468	c.1019T>C	c.(1018-1020)cTg>cCg	p.L340P	RNF167_uc002fzu.3_Missense_Mutation_p.L339P|RNF167_uc002fzy.3_Missense_Mutation_p.L139P	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	Homo sapiens ring finger protein 167 (RNF167), mRNA.	340					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						GATCCCCCACTGTCCCCTCCC	0.552000														284			75		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	2	90193376	90193376	+	RNA	SNP	G	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr2:90193376G>T	uc010yts.2	+	34		c.4233G>T								Parts of antibodies, mostly variable regions.																		GCAGCCTGCAGCCTGAAGATT	0.468000														153			11		1.03484e-13	2.44221e-13	0.005524	1	0
DGKE	8526	broad.mit.edu	37	17	54926211	54926211	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:54926211A>G	uc002iur.3	+	5	1223	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G	DGKE_uc002ius.1_Missense_Mutation_p.D348G	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	348	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ATTAAACTAGATCGGTAAGTT	0.378000														69			24		0	0	0.018920	0	0
ADCY9	115	broad.mit.edu	37	16	4029168	4029168	+	Silent	SNP	G	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr16:4029168G>A	uc002cvx.3	-	7	3167	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	876					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCAGTGCGGGAAGCGACA	0.582000														108			24		0	0	0.006320	0	0
DDX11L11	0	broad.mit.edu	37	12	92018	92018	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:92018T>C	uc010sdi.1	-	1	320	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GACTCCACACTCTCCTGGGTT	0.592000														4			3		0	0	0.004672	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536828	37536828	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr20:37536828A>G	uc002xje.3	+	9	1375	c.1186A>G	c.(1186-1188)Aag>Gag	p.K396E	PPP1R16B_uc010ggc.3_Missense_Mutation_p.K354E	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	396					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCAAGAGAATAAGGACCCTGT	0.607000														52			9		0	0	0.006214	0	0
PLXNB1	5364	broad.mit.edu	37	3	48459373	48459373	+	Silent	SNP	C	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:48459373C>A	uc003csw.2	-	15	3591	c.3321G>T	c.(3319-3321)acG>acT	p.T1107T	PLXNB1_uc003csu.2_Silent_p.T924T|PLXNB1_uc003csx.2_Silent_p.T1107T|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1107	IPT/TIG 1.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCAGCCACCGTGACCATGC	0.662000														59			18		9.16793e-09	2.12121e-08	0.004990	1	0
S100A7L2	645922	broad.mit.edu	37	1	153409541	153409541	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:153409541C>A	uc010pdx.2	-	2	410	c.332G>T	c.(331-333)aGc>aTc	p.S111I		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGATCACTGGCTTCCCCCGGA	0.498000														203			49		3.88204e-17	9.74639e-17	0.014410	1	0
TLN1	7094	broad.mit.edu	37	9	35698169	35698169	+	Splice_Site	SNP	C	G	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr9:35698169C>G	uc003zxt.2	-	56	7726	c.7372_splice	c.e56-1	p.A2458_splice		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2458	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCCAGCAGCCTGGGCAGAG	0.512000														55			12		0	0	0.013537	0	0
FAM86HP	729375	broad.mit.edu	37	3	129817290	129817290	+	RNA	SNP	A	G	G	rs59443817	by1000genomes	TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:129817290A>G	uc003ene.2	-	2		c.1221T>C			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		AAACCCTTTCAAGCAGCGCCT	0.567000														16			4		0	0	0.004482	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62489600	62489600	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr11:62489600C>A	uc001nuw.3	-	6	1577	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	450					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCACATTCCTCTATGGTCTTG	0.517000														64			24		2.39556e-15	5.76891e-15	0.016522	1	0
ZBTB37	84614	broad.mit.edu	37	1	173839638	173839638	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:173839638T>C	uc009wwp.1	+	2	551	c.275T>C	c.(274-276)aTa>aCa	p.I92T	GAS5_uc001gjj.3_5'Flank|GAS5_uc001gjk.3_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.I92T|ZBTB37_uc001gjq.4_Missense_Mutation_p.I92T|ZBTB37_uc001gjr.2_Missense_Mutation_p.I92T	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	Homo sapiens zinc finger and BTB domain containing 37 (ZBTB37), transcript variant 1, mRNA.	92	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ACAGGGCGGATATGCCTGCAA	0.433000														52			18		0	0	0.006122	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117350	117350	+	RNA	SNP	C	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chrGL000205.1:117350C>A	uc002kgk.4	+	0		c.728C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCACCTGGCCTTCTGTGAG	0.577000														77			6		3.59834e-05	7.86303e-05	0.001168	1	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415742	19415742	+	RNA	SNP	T	C	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr13:19415742T>C	uc010tcj.1	-	0		c.30368A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCTGTTTTCCTAATCTTTCTT	0.338000														69			3		0	0	0.009096	0	0
DMBT1	1755	broad.mit.edu	37	10	124352013	124352013	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr10:124352013G>A	uc001lgk.1	+	19	2508	c.2402G>A	c.(2401-2403)cGc>cAc	p.R801H	DMBT1_uc001lgl.1_Missense_Mutation_p.R791H|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R801H|DMBT1_uc021qag.1_Missense_Mutation_p.R791H|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R801H|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.R414H	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	801	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGATGTGCGCTGCTCAGGA	0.607000														258			20		0	0	0.008871	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946521	16946521	+	Splice_Site	SNP	T	C	C	rs140417840	by1000genomes	TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:16946521T>C	uc010ocf.2	-	3		c.379_splice	c.e3-1		CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Intron					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		TGCTGCCTCCTAGGGGGCCAG	0.682000														15			3		0	0	0.004672	0	0
FTMT	94033	broad.mit.edu	37	5	121187826	121187826	+	Silent	SNP	G	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr5:121187826G>T	uc003kss.3	+	0	177	c.168G>T	c.(166-168)cgG>cgT	p.R56R		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	56					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTCCTCCCGGGACCCTACCG	0.751000														12			6		5.9392e-07	1.34774e-06	0.001168	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37536822	37536822	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr20:37536822G>T	uc002xje.3	+	9	1369	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	PPP1R16B_uc010ggc.3_Nonsense_Mutation_p.E352*	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	394					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GACAGACCAAGAGAATAAGGA	0.607000														57			11		1.67772e-17	4.30372e-17	0.010729	1	0
ASCC3	10973	broad.mit.edu	37	6	101296249	101296249	+	Silent	SNP	T	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr6:101296249T>A	uc003pqk.3	-	3	905	c.576A>T	c.(574-576)atA>atT	p.I192I	ASCC3_uc011eai.1_Silent_p.I94I|ASCC3_uc003pql.3_Silent_p.I192I|ASCC3_uc010kcv.3_Silent_p.I192I	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATCTAGGCTTATAGTTTTCT	0.378000														48			15		0	0	0.003163	0	0
DNAH1	25981	broad.mit.edu	37	3	52432935	52432935	+	Silent	SNP	A	G	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:52432935A>G	uc011bef.2	+	75	12420	c.12159A>G	c.(12157-12159)gtA>gtG	p.V4053V	DNAH1_uc003ddv.3_Silent_p.V911V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	4118					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGGGCTGGTAGTGATGTCCT	0.552000														34			9		0	0	0.006214	0	0
SCAP	22937	broad.mit.edu	37	3	47455522	47455522	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:47455522C>A	uc003crh.1	-	22	3917	c.3662G>T	c.(3661-3663)tGt>tTt	p.C1221F	SCAP_uc011baz.1_Missense_Mutation_p.C965F|SCAP_uc003crg.2_Missense_Mutation_p.C828F|BC067356_uc003cri.3_5'Flank	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	1221	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAAGGAGACACAGCCCTGGCC	0.592000														83			60		7.47603e-22	1.96038e-21	0.014410	1	0
TTI2	80185	broad.mit.edu	37	8	33369560	33369560	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr8:33369560A>T	uc003xjl.4	-	0	1097	c.572T>A	c.(571-573)tTc>tAc	p.F191Y	TTI2_uc003xjm.4_Missense_Mutation_p.F191Y|TTI2_uc003xjn.1_Missense_Mutation_p.F191Y	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	Homo sapiens TELO2 interacting protein 2 (TTI2), transcript variant 2, mRNA.	191							binding										TCCATGTAGGAATCCTGCCAC	0.502000														213			75		0	0	0.014410	0	0
PAH	5053	broad.mit.edu	37	12	103234258	103234258	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:103234258A>G	uc001tjq.1	-	11	1708	c.1235T>C	c.(1234-1236)gTt>gCt	p.V412A		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	412					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTCGTAGCGAACTGAGAAGGG	0.448000														64			52		0	0	0.014410	0	0
MORC4	79710	broad.mit.edu	37	X	106201626	106201626	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chrX:106201626A>G	uc004emu.4	-	10	1600	c.1325T>C	c.(1324-1326)aTt>aCt	p.I442T	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.I442T|MORC4_uc004emw.4_Missense_Mutation_p.I190T	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	442							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGATGGATCAATCTTCCCAGG	0.423000														23			29		0	0	0.006320	0	0
LMBR1L	55716	broad.mit.edu	37	12	49500795	49500795	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:49500795G>T	uc001rth.4	-	1	448	c.106C>A	c.(106-108)Ctc>Atc	p.L36I	LMBR1L_uc001rtg.4_5'UTR|LMBR1L_uc001rti.4_Missense_Mutation_p.L36I|LMBR1L_uc001rtj.1_5'Flank|LMBR1L_uc009zld.1_5'UTR|LMBR1L_uc010smf.1_Non-coding_Transcript|LMBR1L_uc009zle.1_Missense_Mutation_p.P92H	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	Homo sapiens limb region 1 homolog (mouse)-like (LMBR1L), mRNA.	36	LCN1-binding.				endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGTGGCAGAGGATGTACAGT	0.512000														142			119		1.54401e-80	4.14075e-80	0.014410	1	0
TERF1	7013	broad.mit.edu	37	8	73921183	73921183	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr8:73921183C>T	uc003xzd.2	+	0	87	c.62C>T	c.(61-63)gCc>gTc	p.A21V	TERF1_uc003xzc.2_Non-coding_Transcript|TERF1_uc003xze.2_Missense_Mutation_p.A21V	NM_017489	NP_059523	P54274	TERF1_HUMAN	Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 1, mRNA.	21	Asp/Glu-rich (acidic).				G2/M transition of mitotic cell cycle|age-dependent telomere shortening|cell division|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	DNA bending activity|caspase activator activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGTAGGGATGCCGACCCTACT	0.637000														33			8		0	0	0.004482	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4657343	4657343	+	Splice_Site	SNP	A	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:4657343A>T	uc001qmw.3	+	6	613	c.457_splice	c.e6+1	p.D153_splice	RAD51AP1_uc001qmu.3_Splice_Site_p.D136_splice|RAD51AP1_uc010sep.2_Splice_Site_p.D18_splice|RAD51AP1_uc010seq.2_Splice_Site_p.D18_splice|RAD51AP1_uc009zeg.3_5'Flank	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.	153					double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GTGATTATTTAGGTAAGtttt	0.289000														58			40		0	0	0.006999	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536638	90536638	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr9:90536638T>A	uc010mqi.3	+	3	1845	c.1816T>A	c.(1816-1818)Tgg>Agg	p.W606R	FAM75C1_uc004apq.4_Missense_Mutation_p.W589R	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GCGTCGATCCTGGCTTGCTGT	0.522000														174			75		0	0	0.014410	0	0
RPL11	6135	broad.mit.edu	37	1	24021204	24021204	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:24021204T>G	uc001bhk.3	+	3	364	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	RPL11_uc001bhl.3_Missense_Mutation_p.F106V	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	107					endocrine pancreas development|protein localization to nucleus|protein targeting|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AAACTTTGGTTTTGGGATCCA	0.403000														76			39		0	0	0.021022	0	0
ADA	100	broad.mit.edu	37	20	43264929	43264929	+	Splice_Site	SNP	C	T	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr20:43264929C>T	uc002xmj.3	-	2	162	c.34_splice	c.e2-1	p.V12_splice		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	12					T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGCAGTTCCACCTGCAAGGGG	0.473000									Adenosine Deaminase Deficiency					19			5		0	0	0.014758	0	0
LMO4	8543	broad.mit.edu	37	1	87805263	87805263	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:87805263delT	uc001dmi.3	+	2	1061	c.281delT	c.(280-282)attfs	p.I94fs	LMO4_uc001dmj.3_Frame_Shift_Del_p.I94fs	NM_006769	NP_006760	P61968	LMO4_HUMAN	Homo sapiens LIM domain only 4 (LMO4), mRNA.	94	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.S93S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GGACAGTCGATTCCTGCGAGT	0.388													---	42	---	---	17	---					
PDGFRB	5159	broad.mit.edu	37	5	149515196	149515213	+	In_Frame_Del	DEL	CCGTGTCTAGCCCAGTGA	-	-	rs141870925		TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr5:149515196_149515213delCCGTGTCTAGCCCAGTGA	uc003lro.3	-	2	738_755	c.269_286delTCACTGGGCTAGACACGG	c.(268-288)ctcactgggctagacacggga>cga	p.90_96LTGLDTG>R	PDGFRB_uc010jhd.3_5'UTR|PDGFRB_uc011dcg.1_In_Frame_Del_p.90_96LTGLDTG>R	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	90	Ig-like C2-type 1.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGTATTCTCCCGTGTCTAGCCCAGTGAGGTTGGTCAG	0.592			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								---	101	---	---	19	---					
NOM1	64434	broad.mit.edu	37	7	156752614	156752614	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr7:156752614delA	uc003wmy.3	+	3	1393	c.1378delA	c.(1378-1380)aaafs	p.K460fs	NOM1_uc010lqp.1_5'Flank	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	460	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAGCGAAGGGAAAGAGTGTGA	0.443													---	46	---	---	16	---					
AGBL2	79841	broad.mit.edu	37	11	47726183	47726183	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr11:47726183delG	uc001ngg.3	-	6	800	c.498delC	c.(496-498)ctcfs	p.L166fs	AGBL2_uc010rhq.1_Frame_Shift_Del_p.L128fs|AGBL2_uc001ngh.1_Frame_Shift_Del_p.L110fs	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	166					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AAATGGAAAAGAGCTCTTGGG	0.428													---	75	---	---	24	---					
ZNF407	55628	broad.mit.edu	37	18	72344119	72344120	+	Frame_Shift_Ins	INS	-	TA	TA			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr18:72344119_72344120insTA	uc002llw.2	+	0	1197_1198	c.1144_1145insTA	c.(1144-1146)ctafs	p.L382fs	ZNF407_uc010xfc.2_Frame_Shift_Ins_p.L382fs|ZNF407_uc010dqu.2_Frame_Shift_Ins_p.L382fs|ZNF407_uc002llu.2_Frame_Shift_Ins_p.L381fs	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGTAGAAAGCTAGACACCTTA	0.431													---	67	---	---	26	---					
