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
GPR182	11318	broad.mit.edu	37	12	57389326	57389326	+	Silent	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:57389326G>A	uc021qzf.1	+	0	333	c.333G>A	c.(331-333)ctG>ctA	p.L111L	GPR182_uc001smk.3_Silent_p.L111L	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	111						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGTGGATGCTGGAGGTCACGC	0.582000														102			5		0	0	0.000602	0	0
ENTPD6	955	broad.mit.edu	37	20	25198149	25198149	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr20:25198149G>C	uc002wuj.2	+	8	990	c.810G>C	c.(808-810)caG>caC	p.Q270H	ENTPD6_uc010zsy.1_Missense_Mutation_p.Q270H|ENTPD6_uc010gdj.1_Missense_Mutation_p.Q242H|ENTPD6_uc002wum.2_Missense_Mutation_p.Q253H|ENTPD6_uc010zta.1_Missense_Mutation_p.Q270H|ENTPD6_uc002wuk.2_Missense_Mutation_p.Q269H|ENTPD6_uc002wul.2_Missense_Mutation_p.Q269H|ENTPD6_uc010ztb.1_Missense_Mutation_p.Q242H|ENTPD6_uc010ztc.1_Missense_Mutation_p.Q242H|ENTPD6_uc002wuo.2_Missense_Mutation_p.Q22H|ENTPD6_uc010zsz.1_Missense_Mutation_p.Q52H|ENTPD6_uc010ztd.1_Missense_Mutation_p.Q52H	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	270						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCACCCTGCAGGCCTCCCCAC	0.537000														80			27		0	0	0.006320	0	0
RASGRF1	5923	broad.mit.edu	37	15	79264261	79264261	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:79264261G>A	uc002beq.3	-	26	4051	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	RASGRF1_uc002bep.3_Nonsense_Mutation_p.R1210*|RASGRF1_uc002beo.3_Nonsense_Mutation_p.R442*	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	1228	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGAATCTCTCGGATAATATGG	0.473000														111			56		0	0	0.003610	0	0
LSR	51599	broad.mit.edu	37	19	35757260	35757260	+	Splice_Site	SNP	A	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:35757260A>G	uc002nyl.3	+	6	1146	c.923_splice	c.e6-2	p.L308_splice	LSR_uc010xsr.2_Splice_Site_p.M200_splice|LSR_uc002nym.3_Splice_Site_p.L289_splice|LSR_uc002nyn.3_Splice_Site_p.V240_splice|LSR_uc002nyo.3_Splice_Site_p.L289_splice|LSR_uc002nyp.3_Splice_Site_p.L271_splice|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	308				L -> R (in Ref. 3; AAB51178).	embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGTCCTCACAGTGTATGCCG	0.627000														79			31		0	0	0.002445	0	0
GSPT2	23708	broad.mit.edu	37	X	51486960	51486960	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:51486960C>T	uc004dpl.3	+	0	480	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	80					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GACTCAGCCGCCCACCCTCCC	0.657000														15			7		0	0	0.003080	0	0
SNRPC	6631	broad.mit.edu	37	6	34730469	34730469	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:34730469T>C	uc003ojt.2	+	2	599	c.149T>C	c.(148-150)aTt>aCt	p.I50T	SNRPC_uc021yyv.1_Missense_Mutation_p.I9T|SNRPC_uc021yyw.1_Missense_Mutation_p.I71T	NM_003093	NP_003084	P09234	RU1C_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA.	50					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						CAGAGCCTGATTGACAAAACA	0.413000														15			5		0	0	0.000602	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039694	36039694	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr5:36039694A>C	uc003jjz.2	-	4	1092	c.960T>G	c.(958-960)ttT>ttG	p.F320L	UGT3A2_uc011cos.2_Missense_Mutation_p.F286L|UGT3A2_uc011cot.2_Missense_Mutation_p.F18L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	320						integral to membrane	glucuronosyltransferase activity	p.A319V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAGGTGAGCAAAGGCATTGT	0.493000														65			39		0	0	0.006230	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919339	130919339	+	Silent	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:130919339G>A	uc001uil.2	-	10	2358	c.2142C>T	c.(2140-2142)gaC>gaT	p.D714D	RIMBP2_uc001uim.3_Silent_p.D622D	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	714						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCTCTTGAAGTCTGGAGAGT	0.597000														158			29		0	0	0.006320	0	0
ZP2	7783	broad.mit.edu	37	16	21215430	21215430	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:21215430T>A	uc010bwn.1	-	8	1092	c.1010A>T	c.(1009-1011)cAg>cTg	p.Q337L	ZP2_uc002dii.2_Missense_Mutation_p.Q298L|ZP2_uc010bwo.3_Missense_Mutation_p.Q337L	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	298					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCATGCAGCTGGCTCACATC	0.428000														41			32		0	0	0.008361	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061866	11061866	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:11061866A>C	uc001qzg.1	-	0	296	c.32T>G	c.(31-33)cTt>cGt	p.L11R	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.	11					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AATTATTACAAGAGTGAAGAT	0.388000														18			29		0	0	0.007291	0	0
SAMD9	54809	broad.mit.edu	37	7	92734539	92734539	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:92734539T>G	uc003umf.3	-	2	1142	c.872A>C	c.(871-873)gAa>gCa	p.E291A	SAMD9_uc003umg.3_Missense_Mutation_p.E291A|SAMD9_uc022ahg.1_Missense_Mutation_p.E291A	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	291						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTAAAACTTCCACAAATCT	0.353000														40			43		0	0	0.002852	0	0
USP34	9736	broad.mit.edu	37	2	61450209	61450209	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:61450209G>C	uc002sbe.3	-	63	7757	c.7735C>G	c.(7735-7737)Cga>Gga	p.R2579G		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2579					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTGCAAGTCGATTATTGTAT	0.383000														23			7		0	0	0.006214	0	0
RFX4	5992	broad.mit.edu	37	12	107154995	107154995	+	Silent	SNP	T	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:107154995T>A	uc001tlt.3	+	17	2123	c.1983T>A	c.(1981-1983)acT>acA	p.T661T	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.T652T|RFX4_uc001tlv.3_Silent_p.T558T	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	652					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATAGCCCCACTTCCCGGATGG	0.468000														200			242		0	0	0.003610	0	0
SMAD1	4086	broad.mit.edu	37	4	146475084	146475084	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:146475084T>G	uc003ikc.3	+	5	1562	c.1146T>G	c.(1144-1146)atT>atG	p.I382M	SMAD1_uc003ikd.3_Missense_Mutation_p.I382M|SMAD1_uc010iov.3_Missense_Mutation_p.I382M|SMAD1_uc011cic.2_Missense_Mutation_p.I343M	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	382	MH2.				BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GTCTGAAAATTTTTAACAACC	0.398000														54			30		0	0	0.001786	0	0
ACY1	95	broad.mit.edu	37	3	52023049	52023049	+	Silent	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:52023049G>C	uc003dcp.3	+	14	1509	c.1185G>C	c.(1183-1185)ctG>ctC	p.L395L	ACY1_uc011bea.2_Silent_p.L485L|ACY1_uc003dcq.3_Silent_p.L395L|ACY1_uc021wzb.1_Silent_p.L360L|ACY1_uc021wzc.1_Silent_p.L323L|ACY1_uc021wzd.1_Silent_p.L330L	NM_000666	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	395					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CACGCCTGCTGCCTGCCCTTG	0.607000														23			82		0	0	0.003610	0	0
CD86	942	broad.mit.edu	37	3	121822644	121822644	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:121822644C>G	uc003eet.3	+	2	478	c.350C>G	c.(349-351)cCc>cGc	p.P117R	CD86_uc011bjo.2_Missense_Mutation_p.P35R|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.P111R|CD86_uc021xcz.1_Missense_Mutation_p.P111R	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	117	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CACAAAAAGCCCACAGGAATG	0.453000														10			54		0	0	0.003610	0	0
KHK	3795	broad.mit.edu	37	2	27317347	27317347	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:27317347T>A	uc002ril.2	+	2	729	c.212T>A	c.(211-213)tTt>tAt	p.F71Y	KHK_uc002rim.2_Intron|KHK_uc002rio.2_Intron	NM_000221	NP_000212	P50053	KHK_HUMAN	Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA.	71					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAGCAGTTTTGTCCTGGAT	0.602000														72			30		0	0	0.002445	0	0
KIF4A	24137	broad.mit.edu	37	X	69637856	69637856	+	Splice_Site	SNP	T	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:69637856T>C	uc004dyg.3	+	29	3515	c.3372_splice	c.e29+2	p.K1124_splice	KIF4A_uc010nkw.3_Splice_Site_p.K1124_splice	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1124	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAAGGCAAGGTAGGATCAGGG	0.537000														61			33		0	0	0.004289	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617296	77617296	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr8:77617296A>T	uc003yau.2	+	1	1360	c.973A>T	c.(973-975)Att>Ttt	p.I325F	ZFHX4_uc003yat.1_Missense_Mutation_p.I325F|ZFHX4_uc003yaw.1_Missense_Mutation_p.I325F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	325						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G324G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATACAGGGGATTGGCAAAGA	0.438000										HNSCC(33;0.089)				79			51		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168103542	168103542	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:168103542T>A	uc002udx.3	+	8	5729	c.5640T>A	c.(5638-5640)caT>caA	p.H1880Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H1705Q|XIRP2_uc010fpq.3_Missense_Mutation_p.H1658Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1705					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATCAAGCCATCGATGGAAAG	0.383000														46			15		0	0	0.004007	0	0
SIN3B	23309	broad.mit.edu	37	19	16964967	16964967	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:16964967T>C	uc002ney.2	+	7	976	c.953T>C	c.(952-954)cTg>cCg	p.L318P	SIN3B_uc002new.3_Missense_Mutation_p.L318P|SIN3B_uc002nez.2_Missense_Mutation_p.L318P	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	318	Interaction with NCOR1 (By similarity).|PAH 3.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCCGGGTGCTGAAGAGCCAG	0.597000														31			21		0	0	0.003330	0	0
PITPNM3	83394	broad.mit.edu	37	17	6375990	6375990	+	Silent	SNP	C	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:6375990C>T	uc002gdd.4	-	10	1567	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	PITPNM3_uc010cln.3_Silent_p.Q436Q|PITPNM3_uc010clm.3_5'UTR|PITPNM3_uc002gdc.4_Silent_p.Q63Q	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	472	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGAGGAGGGACTGCCCATCGC	0.652000														11			13		0	0	0.001855	0	0
HECW1	23072	broad.mit.edu	37	7	43581576	43581576	+	Silent	SNP	T	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:43581576T>A	uc003tid.1	+	25	4832	c.4227T>A	c.(4225-4227)gtT>gtA	p.V1409V	HECW1_uc011kbi.1_Silent_p.V1375V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1409	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTTCACTGTTAATGAAGAGG	0.373000														128			6		0	0	0.001984	0	0
TCTE1	202500	broad.mit.edu	37	6	44254102	44254102	+	Missense_Mutation	SNP	C	T	T	rs149566851		TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:44254102C>T	uc003oxi.2	-	2	601	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	149										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCTGCCGCCATGGTGG	0.612000														65			20		0	0	0.008871	0	0
ABCC2	1244	broad.mit.edu	37	10	101569944	101569944	+	Silent	SNP	C	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr10:101569944C>T	uc001kqf.2	+	13	2008	c.1869C>T	c.(1867-1869)gaC>gaT	p.D623D		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	623						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATGACTTGGACACATCTGCCA	0.428000														27			16		0	0	0.004990	0	0
DHX9	1660	broad.mit.edu	37	1	182850707	182850707	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:182850707A>G	uc001gpr.3	+	23	3014	c.2839A>G	c.(2839-2841)Atg>Gtg	p.M947V	DHX9_uc001gps.3_Missense_Mutation_p.M733V|DHX9_uc001gpt.3_Missense_Mutation_p.M226V|DHX9_uc009wyd.3_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	947					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGACTTAATATGGCTACACT	0.363000														26			66		0	0	0.003610	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143986166	143986166	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:143986166T>C	uc002tvm.4	+	4	464	c.313T>C	c.(313-315)Tcc>Ccc	p.S105P	ARHGAP15_uc010zbl.1_Missense_Mutation_p.S105P	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	105	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTGGTCTACTTCCTGGATTGT	0.318000														51			18		0	0	0.001882	0	0
MYO1E	4643	broad.mit.edu	37	15	59501015	59501015	+	Silent	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:59501015G>A	uc002aga.3	-	13	1767	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	465	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGGCGCACACGTCATCCAGGA	0.542000														52			12		0	0	0.001855	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493608	150493608	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:150493608G>C	uc022apx.1	-	0	176	c.50C>G	c.(49-51)cCa>cGa	p.P17R	TMEM176B_uc003whu.4_Missense_Mutation_p.P17R|TMEM176B_uc003whv.4_Missense_Mutation_p.P17R|TMEM176B_uc003whw.4_Missense_Mutation_p.P17R	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	17				PS -> HA (in Ref. 1; AAD23440).	cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.R16K(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCTGGGATGGCCTAGAGGC	0.522000														95			5		0	0	0.001168	0	0
GNAI1	2770	broad.mit.edu	37	7	79842142	79842142	+	Silent	SNP	A	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:79842142A>G	uc003uhb.1	+	6	1168	c.831A>G	c.(829-831)aaA>aaG	p.K277K	GNAI1_uc011kgt.1_Silent_p.K225K	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	277					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTGAAGAAAAAATCAAAAAGA	0.323000														154			65		0	0	0.003610	0	0
GLMN	11146	broad.mit.edu	37	1	92712096	92712096	+	Silent	SNP	C	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:92712096C>G	uc001dor.3	-	18	1891	c.1776G>C	c.(1774-1776)ggG>ggC	p.G592G	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Silent_p.G578G	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	592					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTCACTTTATCCCAATATTTT	0.259000									Multiple Glomus Tumors (of the Skin), Familial					27			3		0	0	0.004672	0	0
GRM5	2915	broad.mit.edu	37	11	88242044	88242044	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:88242044G>A	uc001pcq.3	-	8	3555	c.3355C>T	c.(3355-3357)Ccg>Tcg	p.P1119S	GRM5_uc009yvm.3_Missense_Mutation_p.P1087S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	1119					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCGATGGCCGGCAGAGGCTGG	0.736000														11			4		0	0	0.001984	0	0
FOXC2	2303	broad.mit.edu	37	16	86601010	86601010	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:86601010T>G	uc002fjq.3	+	0	154	c.69T>G	c.(67-69)aaT>aaG	p.N23K		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	23					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GCGAGCAGAATTACTACCGGG	0.701000									Late-onset Hereditary Lymphedema					42			29		0	0	0.006320	0	0
EPHB4	2050	broad.mit.edu	37	7	100417814	100417814	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:100417814G>T	uc003uwn.1	-	4	1404	c.913C>A	c.(913-915)Cgc>Agc	p.R305S	EPHB4_uc003uwm.1_Missense_Mutation_p.R212S|EPHB4_uc010lhj.1_Missense_Mutation_p.R305S|EPHB4_uc011kkf.1_Missense_Mutation_p.R305S|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.R305S	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	305	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TACCCGACGCGGCACTGGCAG	0.642000														245			6		0.00307968	0.00975711	0.003080	1	0
GBF1	8729	broad.mit.edu	37	10	104112265	104112265	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr10:104112265C>G	uc001kux.2	+	6	868	c.574C>G	c.(574-576)Ctc>Gtc	p.L192V	GBF1_uc001kuw.3_Missense_Mutation_p.L192V|GBF1_uc001kuy.2_Missense_Mutation_p.L192V|GBF1_uc001kuz.2_Missense_Mutation_p.L192V	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	192					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGTGCAGCTGCTCTTCACAAG	0.522000											OREG0020477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			26		0	0	0.006320	0	0
RAET1G	353091	broad.mit.edu	37	6	150240371	150240371	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:150240371T>C	uc010kii.1	-	2	507	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	LOC100652739_uc003qni.2_Non-coding_Transcript|LOC100652739_uc021zgr.1_Non-coding_Transcript|RAET1G_uc003qnm.2_Non-coding_Transcript	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	Homo sapiens retinoic acid early transcript 1G (RAET1G), mRNA.	147	MHC class I alpha-2 like.				antigen processing and presentation|immune response	MHC class I protein complex|integral to membrane	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		AGGAGGAAGATCTGTCCATCG	0.507000														61			46		0	0	0.003610	0	0
GCFC2	6936	broad.mit.edu	37	2	75921529	75921529	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:75921529G>C	uc002sno.3	-	5	988	c.858C>G	c.(856-858)caC>caG	p.H286Q	GCFC2_uc010ffs.3_5'UTR|GCFC2_uc002snn.3_Missense_Mutation_p.H117Q|GCFC2_uc010fft.3_5'UTR	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	286					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										GGTGTGAGCGGTGAGTTTCCT	0.294000														53			33		0	0	0.003271	0	0
MMP27	64066	broad.mit.edu	37	11	102567479	102567479	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:102567479G>A	uc001phd.1	-	4	730	c.707C>T	c.(706-708)cCa>cTa	p.P236L		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	236					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GACATAATTTGGGAACATCAA	0.398000														34			4		0	0	0.001168	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029511	103029511	+	Silent	SNP	A	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:103029511A>G	uc003vbz.3	-	13	1720	c.1458T>C	c.(1456-1458)taT>taC	p.Y486Y	SLC26A5_uc003vbt.2_Silent_p.Y486Y|SLC26A5_uc003vbu.2_Silent_p.Y486Y|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.Y454Y	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	486					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGATCAAACCATAGTCCAATC	0.458000														50			14		0	0	0.003163	0	0
C19orf55	148137	broad.mit.edu	37	19	36253153	36253153	+	Splice_Site	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:36253153G>A	uc021usz.1	+	5	513	c.440_splice	c.e5-1	p.A147_splice	C19orf55_uc002obo.1_Splice_Site_p.A147_splice|C19orf55_uc002obp.3_Intron	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	147										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCTTCTCAGCAGGAGCCAA	0.552000														17			4		0	0	0.000248	0	0
LAS1L	81887	broad.mit.edu	37	X	64749564	64749564	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:64749564C>A	uc004dwa.2	-	4	800	c.709G>T	c.(709-711)Gag>Tag	p.E237*	LAS1L_uc004dwc.2_Nonsense_Mutation_p.E237*|LAS1L_uc004dwd.2_Nonsense_Mutation_p.E195*	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	237						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACATCTGACTCCGTACTTTTC	0.453000														117			57		1.53716e-24	5.31731e-24	0.003610	1	0
KIAA2018	205717	broad.mit.edu	37	3	113377559	113377559	+	Silent	SNP	T	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:113377559T>C	uc003eam.3	-	6	3381	c.2970A>G	c.(2968-2970)tcA>tcG	p.S990S	KIAA2018_uc003eal.3_Silent_p.S934S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	990					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCATTGTATCTGATGAATCTT	0.393000														28			86		0	0	0.003610	0	0
SP110	3431	broad.mit.edu	37	2	231050754	231050754	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:231050754A>G	uc002vqg.3	-	10	1475	c.1235T>C	c.(1234-1236)gTc>gCc	p.V412A	SP110_uc002vqh.3_Missense_Mutation_p.V412A|SP110_uc002vqi.4_Missense_Mutation_p.V412A|SP110_uc010fxk.3_Missense_Mutation_p.V410A|SP110_uc021vxx.1_Missense_Mutation_p.V418A|SP110_uc010fxj.3_Missense_Mutation_p.V55A	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	412					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGCCTTTTGGACCCTCATCAT	0.478000														128			4		0	0	0.000602	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749140	43749140	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:43749140T>A	uc001zrs.3	-	11	1799	c.1651A>T	c.(1651-1653)Atg>Ttg	p.M551L	TP53BP1_uc010udp.2_Missense_Mutation_p.M551L|TP53BP1_uc001zrq.4_Missense_Mutation_p.M556L|TP53BP1_uc001zrr.4_Missense_Mutation_p.M556L|TP53BP1_uc010udq.1_Missense_Mutation_p.M556L	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	551					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTGGAGACATGGGTTCCGTA	0.403000								Other conserved DNA damage response genes						33			25		0	0	0.003330	0	0
ROS1	6098	broad.mit.edu	37	6	117706858	117706858	+	Silent	SNP	T	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:117706858T>A	uc003pxp.1	-	14	2491	c.2292A>T	c.(2290-2292)ggA>ggT	p.G764G	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	764					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATATGTCTTTCCAGCCCAGT	0.423000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									56			45		0	0	0.003610	0	0
ROGDI	79641	broad.mit.edu	37	16	4849743	4849743	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:4849743G>C	uc002cxv.3	-	5	478	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	ROGDI_uc002cxu.3_Missense_Mutation_p.L36V|ROGDI_uc002cxw.3_Missense_Mutation_p.L36V	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	Homo sapiens rogdi homolog (Drosophila) (ROGDI), mRNA.	126						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						CTGGTAAGCAGGTAAATGGCT	0.622000														12			3		0	0	0.000248	0	0
TRMT1	55621	broad.mit.edu	37	19	13226494	13226494	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:13226494T>A	uc002mwj.2	-	2	649	c.399A>T	c.(397-399)gaA>gaT	p.E133D	NACC1_uc002mwm.3_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.E133D|TRMT1_uc002mwl.3_Missense_Mutation_p.E133D|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	133							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGGCCAGGTTTTCACTCTCTT	0.572000														158			92		0	0	0.003610	0	0
GSPT2	23708	broad.mit.edu	37	X	51486959	51486959	+	Silent	SNP	G	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:51486959G>T	uc004dpl.3	+	0	479	c.237G>T	c.(235-237)ccG>ccT	p.P79P		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	79					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGACTCAGCCGCCCACCCTCC	0.657000														15			7		5.18039e-06	1.65675e-05	0.003080	1	0
MUC4	4585	broad.mit.edu	37	3	195505772	195505772	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:195505772C>G	uc021xjp.1	-	1	12835	c.12679G>C	c.(12679-12681)Gtc>Ctc	p.V4227L	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	984					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V4227L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTGGTGACAGGAAGAGGG	0.582000														7			2		0	0	0.004672	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476600	35476600	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:35476600G>A	uc001byh.3	-	8	1328	c.1100C>T	c.(1099-1101)gCg>gTg	p.A367V	ZMYM6_uc001byf.1_Missense_Mutation_p.A367V|ZMYM6_uc010oht.2_Missense_Mutation_p.A270V|ZMYM6_uc009vup.3_Missense_Mutation_p.A173V|ZMYM6_uc009vuq.1_Missense_Mutation_p.A367V|ZMYM6_uc009vur.1_Missense_Mutation_p.A173V	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	367					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.A367A(2)|p.A367V(2)|p.A367E(2)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CAGGGGCACCGCCGAAGAGTT	0.458000														42			30		0	0	0.002836	0	0
C2orf55	343990	broad.mit.edu	37	2	99411105	99411105	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:99411105G>C	uc002szf.1	-	9	3073	c.2779C>G	c.(2779-2781)Ctg>Gtg	p.L927V		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	927										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						AGCTGATGCAGTTCCTTCTCC	0.478000														65			47		0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617295	77617295	+	Silent	SNP	G	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr8:77617295G>T	uc003yau.2	+	1	1359	c.972G>T	c.(970-972)ggG>ggT	p.G324G	ZFHX4_uc003yat.1_Silent_p.G324G|ZFHX4_uc003yaw.1_Silent_p.G324G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G324G(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAATACAGGGGATTGGCAAAG	0.438000										HNSCC(33;0.089)				78			51		1.10885e-35	3.91562e-35	0.003610	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904634	144904634	+	Silent	SNP	C	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:144904634C>T	uc022cfn.1	+	0	691	c.691C>T	c.(691-693)Cta>Tta	p.L231L	SLITRK2_uc004fcd.3_Silent_p.L231L|SLITRK2_uc010nsp.3_Silent_p.L231L|SLITRK2_uc010nso.3_Silent_p.L231L|SLITRK2_uc011mwq.2_Silent_p.L231L|SLITRK2_uc011mwr.2_Silent_p.L231L|SLITRK2_uc011mws.2_Silent_p.L231L|SLITRK2_uc004fcg.3_Silent_p.L231L|SLITRK2_uc011mwt.2_Silent_p.L231L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	231	LRRCT 1.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCCTGGCTAGACACCAT	0.488000														113			28		0	0	0.002096	0	0
POU2AF1	5450	broad.mit.edu	37	11	111225200	111225200	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:111225200A>G	uc001plg.4	-	4	812	c.557T>C	c.(556-558)cTa>cCa	p.L186P		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	186					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGAGGTGGGTAGTGTGGAAAG	0.667000			T	BCL6	NHL									39			24		0	0	0.002780	0	0
GOLGA4	2803	broad.mit.edu	37	3	37365472	37365472	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:37365472G>A	uc003cgv.3	+	13	2455	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	GOLGA4_uc010hgr.2_Missense_Mutation_p.A260T|GOLGA4_uc003cgw.3_Missense_Mutation_p.A721T|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.A580T	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	699	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTATTAAAAGCCCGTCACAA	0.358000														7			26		0	0	0.003954	0	0
TEP1	7011	broad.mit.edu	37	14	20869208	20869208	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr14:20869208G>A	uc001vxe.3	-	8	1524	c.1484C>T	c.(1483-1485)cCa>cTa	p.P495L	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.P387L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	495	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCAGGTCTCTGGCCTAGACAG	0.557000														72			35		0	0	0.003755	0	0
PBRM1	55193	broad.mit.edu	37	3	52651555	52651555	+	Splice_Site	SNP	C	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:52651555C>T	uc003des.2	-	14	1554	c.1542_splice	c.e14-1	p.S514_splice	PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.S514_splice|PBRM1_uc003der.2_Splice_Site_p.S482_splice|PBRM1_uc003det.2_Splice_Site_p.S529_splice|PBRM1_uc003deu.2_Splice_Site_p.S529_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.S514_splice|PBRM1_uc010hmk.1_Splice_Site_p.S514_splice|PBRM1_uc003dey.2_Splice_Site_p.S514_splice|PBRM1_uc003dez.1_Splice_Site_p.S514_splice|PBRM1_uc003dfb.1_Splice_Site_p.S427_splice|PBRM1_uc003dfc.3_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	514					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTTCTTTTTACTGTTGAGGGG	0.348000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									10			21		0	0	0.001882	0	0
TLN2	83660	broad.mit.edu	37	15	63011987	63011987	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:63011987C>G	uc002alb.4	+	21	2899	c.2899C>G	c.(2899-2901)Cag>Gag	p.Q967E		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	967	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACATCCCTCAGCTGGTCCA	0.547000														20			12		0	0	0.001368	0	0
TDRD6	221400	broad.mit.edu	37	6	46660547	46660547	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:46660547G>C	uc003oyj.3	+	0	4936	c.4682G>C	c.(4681-4683)aGg>aCg	p.R1561T	TDRD6_uc010jze.3_Missense_Mutation_p.R1561T	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1561					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTAGCAGACAGGAGAAATTGT	0.383000														34			25		0	0	0.003330	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904633	144904633	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:144904633G>C	uc022cfn.1	+	0	690	c.690G>C	c.(688-690)tgG>tgC	p.W230C	SLITRK2_uc004fcd.3_Missense_Mutation_p.W230C|SLITRK2_uc010nsp.3_Missense_Mutation_p.W230C|SLITRK2_uc010nso.3_Missense_Mutation_p.W230C|SLITRK2_uc011mwq.2_Missense_Mutation_p.W230C|SLITRK2_uc011mwr.2_Missense_Mutation_p.W230C|SLITRK2_uc011mws.2_Missense_Mutation_p.W230C|SLITRK2_uc004fcg.3_Missense_Mutation_p.W230C|SLITRK2_uc011mwt.2_Missense_Mutation_p.W230C	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	230	LRRCT 1.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGCCTGGCTAGACACCA	0.488000														112			26		0	0	0.001786	0	0
DNAH17	8632	broad.mit.edu	37	17	76455187	76455187	+	Missense_Mutation	SNP	C	T	T	rs145638188	byFrequency	TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:76455187C>T	uc010dhp.2	-	60	9882	c.9757G>A	c.(9757-9759)Gag>Aag	p.E3253K	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.D3252D(1)|p.E3248Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTAGACCTCGTAGAAGCGG	0.607000														203			54		0	0	0.003610	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602963	138602963	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:138602963T>C	uc011kql.2	-	1	1458	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G	KIAA1549_uc011kqj.2_Missense_Mutation_p.D470G	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	470						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTCAGAGAAGTCTGCTACGAC	0.483000			O	BRAF	pilocytic astrocytoma									46			20		0	0	0.001882	0	0
OPN1MW	2652	broad.mit.edu	37	X	153496172	153496172	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:153496172C>A	uc004fkd.3	+	4	982	c.900C>A	c.(898-900)caC>caA	p.H300Q		NM_000513	NP_001041646	P04001	OPSG_HUMAN	Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.	300					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCCTTCCACCCTTTGATGG	0.557000														25			84		1.24258e-46	4.43406e-46	0.003610	1	0
abParts	0	broad.mit.edu	37	14	107198935	107198935	+	RNA	SNP	A	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr14:107198935A>C	uc021ser.1	-	16		c.1754T>G								Parts of antibodies, mostly variable regions.																		CTGTGTCTCTAGCACAGTAAT	0.567000														97			66		0	0	0.003610	0	0
NOS1	4842	broad.mit.edu	37	12	117655909	117655909	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:117655909T>C	uc001twn.2	-	28	5044	c.4333A>G	c.(4333-4335)Aac>Gac	p.N1445D	NOS1_uc021ren.1_Missense_Mutation_p.N1075D|NOS1_uc021reo.1_Missense_Mutation_p.N1075D|NOS1_uc001twm.2_Missense_Mutation_p.N1411D	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1411					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTAAGGCGGTTGGTCACTTCG	0.498000														372			110		0	0	0.003610	0	0
FAM46A	55603	broad.mit.edu	37	6	82461531	82461531	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:82461531C>T	uc003pjf.3	-	1	698	c.385G>A	c.(385-387)Gag>Aag	p.E129K	FAM46A_uc003pjg.3_Missense_Mutation_p.E110K|FAM46A_uc003pjh.1_Missense_Mutation_p.E110K	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	Homo sapiens family with sequence similarity 46, member A (FAM46A), mRNA.	110										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		ATGCGCTTCTCGGCCAGGCGC	0.672000														27			24		0	0	0.006320	0	0
PSMB1	5689	broad.mit.edu	37	6	170844433	170844433	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:170844433G>A	uc011ehe.2	-	5	688	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	PSMB1_uc003qxq.2_Intron|PSMB1_uc003qxr.3_Missense_Mutation_p.R100W	NM_002793	NP_002784	P20618	PSB1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 1 (PSMB1), mRNA.	201					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	TTCACCAGCCGCATGGCTCTG	0.517000														77			6		0	0	0.001168	0	0
SPEG	10290	broad.mit.edu	37	2	220309733	220309733	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:220309733C>G	uc010fwg.3	+	2	665	c.665C>G	c.(664-666)cCa>cGa	p.P222R	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Intron|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	222					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCCGGGCCACGGCACCTG	0.716000														12			7		0	0	0.003080	0	0
PPARD	5467	broad.mit.edu	37	6	35392132	35392132	+	Silent	SNP	A	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:35392132A>C	uc003okn.3	+	7	1059	c.654A>C	c.(652-654)acA>acC	p.T218T	PPARD_uc003okl.3_Silent_p.T218T|PPARD_uc011dtb.2_Silent_p.T179T|PPARD_uc011dtc.2_Silent_p.T120T|PPARD_uc003okm.3_Silent_p.T218T	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	218					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACATCGAGACATTGTGGCAGG	0.597000														28			17		0	0	0.008871	0	0
SLC6A13	6540	broad.mit.edu	37	12	346409	346409	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:346409A>T	uc001qic.2	-	5	701	c.611T>A	c.(610-612)cTg>cAg	p.L204Q	SLC6A13_uc009zdj.2_Missense_Mutation_p.L204Q|SLC6A13_uc010sdl.2_Missense_Mutation_p.L112Q|SLC6A13_uc010sdm.1_Missense_Mutation_p.L85Q	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	204					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTCCCAGCGCAGGGCCCCCAG	0.602000														104			30		0	0	0.004289	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748657	79748657	+	Silent	SNP	C	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:79748657C>T	uc002bew.1	+	1	243	c.168C>T	c.(166-168)ctC>ctT	p.L56L	KIAA1024_uc010unk.1_Silent_p.L56L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	56						integral to membrane		p.L56L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAGCTTGTCTCGATCCCAATT	0.458000														106			6		0	0	0.001168	0	0
TSR1	55720	broad.mit.edu	37	17	2232753	2232753	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:2232753A>T	uc002fuj.3	-	10	2744	c.1787T>A	c.(1786-1788)aTg>aAg	p.M596K	SNORD91B_uc002fuk.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.	596					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTCACCACCATATTCAATAC	0.438000														39			22		0	0	0.001882	0	0
FAT1	2195	broad.mit.edu	37	4	187525694	187525694	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:187525694A>G	uc003izf.3	-	17	10573	c.10385T>C	c.(10384-10386)cTg>cCg	p.L3462P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3462	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTTACTACCAGCTGCAGCAC	0.418000										HNSCC(5;0.00058)				20			12		0	0	0.000978	0	0
IRF2	3660	broad.mit.edu	37	4	185339324	185339324	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:185339324G>C	uc003iwf.4	-	4	608	c.408C>G	c.(406-408)atC>atG	p.I136M		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	136					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AGATTACCTTGATGTGCTTAA	0.398000														97			53		0	0	0.003610	0	0
ADRBK2	157	broad.mit.edu	37	22	26086189	26086189	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr22:26086189G>A	uc003abx.4	+	11	1138	c.991G>A	c.(991-993)Gca>Aca	p.A331T	ADRBK2_uc010gux.3_Missense_Mutation_p.A331T|ADRBK2_uc003abw.2_Missense_Mutation_p.A218T|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	331	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.A331T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACATGGACACGCAAGAATATC	0.413000														28			7		0	0	0.003080	0	0
HEATR2	54919	broad.mit.edu	37	7	813765	813765	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:813765C>T	uc010krz.1	+	9	2032	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	HEATR2_uc003siz.2_Missense_Mutation_p.A539V|HEATR2_uc003sjb.2_Missense_Mutation_p.A51V|HEATR2_uc003sjc.2_Missense_Mutation_p.A96V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	671							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGGACAGCCGCGGCCATCCGC	0.672000														118			5		0	0	0.000602	0	0
ADCY2	108	broad.mit.edu	37	5	7766912	7766912	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr5:7766912T>G	uc003jdz.1	+	16	2274	c.2207T>G	c.(2206-2208)tTc>tGc	p.F736C	ADCY2_uc011cmo.1_Missense_Mutation_p.F556C	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	736					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AATTTATTTTTCCTCCCGGTA	0.428000														135			74		0	0	0.003610	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904635	144904635	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:144904635T>A	uc022cfn.1	+	0	692	c.692T>A	c.(691-693)cTa>cAa	p.L231Q	SLITRK2_uc004fcd.3_Missense_Mutation_p.L231Q|SLITRK2_uc010nsp.3_Missense_Mutation_p.L231Q|SLITRK2_uc010nso.3_Missense_Mutation_p.L231Q|SLITRK2_uc011mwq.2_Missense_Mutation_p.L231Q|SLITRK2_uc011mwr.2_Missense_Mutation_p.L231Q|SLITRK2_uc011mws.2_Missense_Mutation_p.L231Q|SLITRK2_uc004fcg.3_Missense_Mutation_p.L231Q|SLITRK2_uc011mwt.2_Missense_Mutation_p.L231Q	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	231	LRRCT 1.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGCCTGGCTAGACACCATA	0.493000														114			28		0	0	0.002096	0	0
MYH11	4629	broad.mit.edu	37	16	15841744	15841744	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:15841744G>T	uc002ddx.3	-	18	2365	c.2258C>A	c.(2257-2259)gCc>gAc	p.A753D	MYH11_uc002ddv.3_Missense_Mutation_p.A753D|MYH11_uc002ddw.3_Missense_Mutation_p.A746D|MYH11_uc002ddy.3_Missense_Mutation_p.A746D|MYH11_uc010bvg.3_Missense_Mutation_p.A578D	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	746	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGAATGCAGGCCTGCTTCCC	0.587000			T	CBFB	AML									38			19		2.37509e-13	8.05156e-13	0.001523	1	0
LCE2A	353139	broad.mit.edu	37	1	152671691	152671691	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:152671691G>C	uc021oze.1	+	0	314	c.314G>C	c.(313-315)tGc>tCc	p.C105S	LCE2A_uc001faj.3_Missense_Mutation_p.C105S	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	Homo sapiens late cornified envelope 2A (LCE2A), mRNA.	105	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGGACTGCTGCTGACCA	0.587000														70			21		0	0	0.003954	0	0
ZNF638	27332	broad.mit.edu	37	2	71576384	71576384	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:71576384T>G	uc002shx.3	+	1	623	c.300T>G	c.(298-300)caT>caG	p.H100Q	ZNF638_uc010fec.2_Missense_Mutation_p.H206Q|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.H100Q|ZNF638_uc002shz.3_Missense_Mutation_p.H100Q|ZNF638_uc002shy.3_Missense_Mutation_p.H100Q|ZNF638_uc002sia.3_Missense_Mutation_p.H100Q|ZNF638_uc002sib.1_Missense_Mutation_p.H100Q	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	100					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGAAGCCTCATGGTAGCCGGT	0.448000														85			3		0	0	0.004672	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74570497	74570497	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:74570497C>T	uc002jsg.4	-	2	566	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2), mRNA.	104					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTGGCTCAGGCGGTCCCAGAG	0.637000														24			14		0	0	0.003163	0	0
MTOR	2475	broad.mit.edu	37	1	11307790	11307790	+	Splice_Site	SNP	C	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:11307790C>A	uc001asd.3	-	8	1238	c.1117_splice	c.e8-1	p.V373_splice		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	373					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CACTGGCACACCTGAGAGAGG	0.498000														59			16		1.15088e-07	3.75142e-07	0.004007	1	0
CCDC144A	9720	broad.mit.edu	37	17	16701681	16701681	+	RNA	SNP	C	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:16701681C>A	uc010cpj.1	+	17		c.4212C>A			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		CGGCTCTCTGCCAGCATCAAC	0.483000														106			16		2.94398e-08	9.68942e-08	0.007413	1	0
ATN1	1822	broad.mit.edu	37	12	7046365	7046365	+	Silent	SNP	C	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:7046365C>G	uc001qrw.1	+	4	2172	c.1935C>G	c.(1933-1935)tcC>tcG	p.S645S	ATN1_uc001qrx.1_Silent_p.S645S	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	645					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGCCCCGTCCCCGGGGGCCT	0.672000														34			45		0	0	0.003610	0	0
MRPL44	65080	broad.mit.edu	37	2	224824513	224824513	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:224824513A>G	uc002vnr.4	+	1	511	c.442A>G	c.(442-444)Atg>Gtg	p.M148V		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	148	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTACCCAGACATGCCCACTGA	0.428000														50			40		0	0	0.008740	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187881	58187881	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:58187881C>G	uc002qpu.3	+	2	1065	c.368C>G	c.(367-369)aCt>aGt	p.T123S		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	123	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L122M(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGACCTGACTGATGACAGC	0.418000														32			23		0	0	0.002780	0	0
ASPM	259266	broad.mit.edu	37	1	197073973	197073974	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:197073973_197073974insA	uc001gtu.3	-	17	4664_4665	c.4407_4408insT	c.(4405-4410)attatcfs	p.I1469fs	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1469					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATTGTATGATAATAGCAGAAT	0.292													---	14	---	---	45	---					
SETD2	29072	broad.mit.edu	37	3	47164114	47164114	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:47164114delA	uc003cqv.3	-	2	2065	c.1979delT	c.(1978-1980)ttafs	p.L660fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.L671fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATTTATATTTAATTCTATGGG	0.328			"""N, F, S, Mis"""		clear cell renal carcinoma								---	15	---	---	70	---					
PDE7B	27115	broad.mit.edu	37	6	136512787	136512788	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:136512787_136512788insA	uc003qgp.3	+	12	1465_1466	c.1162_1163insA	c.(1162-1164)gaafs	p.E388fs	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Frame_Shift_Ins_p.E440fs	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	388	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.E388*(2)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GCTCTTCCGGGAATGGGCCCAT	0.589													---	23	---	---	12	---					
ANKRD26	22852	broad.mit.edu	37	10	27349330	27349331	+	In_Frame_Ins	INS	-	TCA	TCA			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr10:27349330_27349331insTCA	uc009xku.1	-	14	1679_1680	c.1507_1508insTGA	c.(1507-1509)aaa>aTGAaa	p.502_503insM	ANKRD26_uc001itg.2_In_Frame_Ins_p.188_189insM|ANKRD26_uc001ith.2_In_Frame_Ins_p.502_503insM	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	502						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AACAGAATCTTTCATTTCAATG	0.277													---	99	---	---	44	---					
NCAPD3	23310	broad.mit.edu	37	11	134038822	134038822	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:134038822delG	uc001qhd.1	-	24	3835	c.3229delC	c.(3229-3231)cagfs	p.Q1077fs	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	1077					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTCTCTGACTGGGGGAACTTG	0.443													---	57	---	---	35	---					
MGA	23269	broad.mit.edu	37	15	42041819	42041837	+	Frame_Shift_Del	DEL	CTAATGTAATAAAACAAAA	-	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:42041819_42041837delCTAATGTAATAAAACAAAA	uc010ucy.2	+	16	6195_6213	c.6014_6032delCTAATGTAATAAAACAAAA	c.(6013-6033)gctaatgtaataaaacaaaacfs	p.A2005fs	MGA_uc010ucz.2_Frame_Shift_Del_p.A1796fs|MGA_uc010uda.1_Frame_Shift_Del_p.A621fs|MGA_uc001zoi.3_Frame_Shift_Del_p.A219fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1966						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GACCCTGAGGCTAATGTAATAAAACAAAACTCAGGAGCT	0.416													---	87	---	---	24	---					
C16orf62	57020	broad.mit.edu	37	16	19711796	19711797	+	Frame_Shift_Ins	INS	-	G	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:19711796_19711797insG	uc002dgn.2	+	30	3205_3206	c.2890_2891insG	c.(2890-2892)tgafs	p.*964fs	C16orf62_uc002dgo.2_Frame_Shift_Ins_p.*960fs|C16orf62_uc002dgp.2_Frame_Shift_Ins_p.*713fs	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AACAAGGACCTGACCCCCGGGC	0.510													---	53	---	---	28	---					
ZNF709	163051	broad.mit.edu	37	19	12639496	12639497	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:12639496_12639497delAG	uc002mty.3	-	1	227_228	c.17_18delCT	c.(16-18)tctfs	p.S6fs	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	6	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CCACATCCTCAGAGGCCACTGA	0.450													---	92	---	---	54	---					
