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
KLHL31	401265	broad.mit.edu	37	6	53517013	53517013	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:53517013C>T	uc003pcb.4	-	2	1429	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	AX746830_uc003pcc.1_Silent_p.F135F	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AGGCTTCCTTCTGCGTTGCGG	0.662000														48			30		0	0	0.034045	0	0
CYTIP	9595	broad.mit.edu	37	2	158287080	158287080	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr2:158287080T>C	uc002tzj.1	-	4	539	c.467A>G	c.(466-468)aAc>aGc	p.N156S	CYTIP_uc010zcl.1_Missense_Mutation_p.N50S	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	156	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CGTTAGCAGGTTTCCGGACGA	0.428000														54			14		0	0	0.020292	0	0
FBXW7	55294	broad.mit.edu	37	4	153268165	153268165	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr4:153268165C>T	uc003ims.3	-	3	805	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	FBXW7_uc011cii.2_Missense_Mutation_p.A215T|FBXW7_uc003imt.3_Missense_Mutation_p.A215T|FBXW7_uc011cih.2_Missense_Mutation_p.A39T|FBXW7_uc003imq.3_Missense_Mutation_p.A135T|FBXW7_uc003imr.3_Missense_Mutation_p.A97T	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	215					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGGCCATTGGCTGCTCTGAGG	0.443000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									108			3		0	0	0.004672	0	0
TRAPPC5	126003	broad.mit.edu	37	19	7747477	7747477	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr19:7747477G>A	uc002mhi.1	+	1	408	c.338G>A	c.(337-339)cGc>cAc	p.R113H	TRAPPC5_uc002mhj.1_Missense_Mutation_p.R113H|TRAPPC5_uc002mhk.1_Missense_Mutation_p.R113H|TRAPPC5_uc021unw.1_Missense_Mutation_p.R113H	NM_001042462	NP_777554	Q8IUR0	TPPC5_HUMAN	Homo sapiens trafficking protein particle complex 5 (TRAPPC5), transcript variant 3, mRNA.	113					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	p.R113L(2)		NS(1)|lung(2)	3						GATGACGCGCGCACCTTCTAC	0.627000														41			3		0	0	0.004672	0	0
PLXNA2	5362	broad.mit.edu	37	1	208270156	208270156	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr1:208270156C>A	uc001hgz.3	-	6	2562	c.1804G>T	c.(1804-1806)Gtg>Ttg	p.V602L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	602					axon guidance	integral to membrane|intracellular|plasma membrane		p.V602V(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCCCTCCACCTCTGTCAGG	0.562000														36			12		0.00074312	0.000812248	0.038395	1	0
ACCSL	390110	broad.mit.edu	37	11	44073203	44073203	+	Splice_Site	SNP	G	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr11:44073203G>T	uc001mxw.1	+	5	762	c.706_splice	c.e5-1	p.V236_splice	ACCSL_uc009ykr.2_Splice_Site_p.V55_splice	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	236							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTGTCTTCAGGTGGTGGTTCT	0.532000														287			44		5.2432e-18	6.31873e-18	0.048971	1	0
SLC12A3	6559	broad.mit.edu	37	16	56906659	56906659	+	Silent	SNP	A	G	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr16:56906659A>G	uc002ekd.4	+	7	1085	c.1056A>G	c.(1054-1056)acA>acG	p.T352T	SLC12A3_uc010ccm.3_Silent_p.T352T|SLC12A3_uc010ccn.3_Silent_p.T351T	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	352					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCTCGGCCACAGGCATCCTGG	0.562000														76			3		0	0	0.004672	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000														105			3		0	0	0.004672	0	0
STAM	8027	broad.mit.edu	37	10	17747670	17747670	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr10:17747670T>A	uc001ipj.2	+	11	1354	c.1139T>A	c.(1138-1140)aTg>aAg	p.M380K	STAM_uc010qcf.2_Missense_Mutation_p.M269K|STAM_uc009xjw.2_Missense_Mutation_p.M38K	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	380	ITAM.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.P379P(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GAAGATCCGATGTATTCCATG	0.368000														105			42		0	0	0.104719	0	0
C21orf91	54149	broad.mit.edu	37	21	19190580	19190580	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr21:19190580C>T	uc002yko.4	-	1	147	c.56G>A	c.(55-57)aGt>aAt	p.S19N	C21orf91_uc002ykq.4_Missense_Mutation_p.S19N|C21orf91_uc002ykp.4_Missense_Mutation_p.S19N	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN	Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.	19										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TTTACAAACACTGCAAATGTT	0.353000														112			5		0	0	0.014758	0	0
ITGAL	3683	broad.mit.edu	37	16	30507473	30507473	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr16:30507473G>A	uc002dyi.4	+	13	1735	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q	ITGAL_uc002dyj.4_Missense_Mutation_p.R437Q|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	520					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.G519R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCACTCGGGCGGTTTGGAGAA	0.597000														168			27		0	0	0.108266	0	0
ANKRD23	200539	broad.mit.edu	37	2	97505559	97505559	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr2:97505559C>T	uc002sxa.3	-	7	756	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Missense_Mutation_p.G201R	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	243						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCGTGTCCCCTTCCTGCTGA	0.647000														25			6		0	0	0.029380	0	0
C12orf51	283450	broad.mit.edu	37	12	112694159	112694159	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr12:112694159C>T	uc021reb.1	-	20	3256	c.2860G>A	c.(2860-2862)Gat>Aat	p.D954N	C12orf51_uc010syk.1_Missense_Mutation_p.D489N|C12orf51_uc001tts.2_Missense_Mutation_p.D489N|C12orf51_uc001ttt.3_Missense_Mutation_p.D487N	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CATCTGCTATCAAATCTAAGG	0.423000														88			44		0	0	0.048971	0	0
MBD5	55777	broad.mit.edu	37	2	149226038	149226038	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr2:149226038A>G	uc002twm.4	+	8	1523	c.526A>G	c.(526-528)Aat>Gat	p.N176D	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	176						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGATCATCAAATGCCATGGG	0.423000														71			21		0	0	0.062417	0	0
C10orf2	56652	broad.mit.edu	37	10	102750271	102750271	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr10:102750271G>T	uc001ksf.2	+	2	2238	c.1563G>T	c.(1561-1563)atG>atT	p.M521I	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Missense_Mutation_p.M67I|C10orf2_uc001ksg.2_Missense_Mutation_p.M521I|C10orf2_uc001ksi.2_Missense_Mutation_p.M67I|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	521	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCAGTTCATGATGGGTCACG	0.493000														138			62		1.34159e-35	1.70419e-35	0.048971	1	0
GMDS	2762	broad.mit.edu	37	6	1930387	1930387	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:1930387C>T	uc003mtq.3	-	6	933	c.721G>A	c.(721-723)Gga>Aga	p.G241R	GMDS_uc021ykn.1_Missense_Mutation_p.G211R	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	241					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCAGATTTCCCAAACTGAAA	0.408000														85			31		0	0	0.041601	0	0
KLK3	354	broad.mit.edu	37	19	51359636	51359636	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr19:51359636G>T	uc021uyi.1	+	1	228	c.187G>T	c.(187-189)Gct>Tct	p.A63S	KLK3_uc002ptp.1_Missense_Mutation_p.A63S|KLK3_uc002pts.1_Missense_Mutation_p.A63S|KLK3_uc002ptr.1_Missense_Mutation_p.A63S|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	63	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GGTCCTCACAGCTGCCCACTG	0.617000														85			38		4.92203e-23	6.08777e-23	0.086207	1	0
NME8	51314	broad.mit.edu	37	7	37927910	37927910	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr7:37927910C>T	uc003tfn.3	+	14	1651	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	427	NDK 2.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGACAGTTTGCCGGTCAACCA	0.368000														117			4		0	0	0.009096	0	0
RPSA	3921	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567000														51			3		0	0	0.009096	0	0
COL19A1	1310	broad.mit.edu	37	6	70639518	70639518	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:70639518G>T	uc003pfc.1	+	5	709	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	COL19A1_uc010kam.2_Missense_Mutation_p.D94Y	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	198	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.T197P(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAGGCAGACTGATGAAAAGGA	0.423000														67			15		6.31663e-08	7.24101e-08	0.024245	1	0
BUD13	84811	broad.mit.edu	37	11	116633298	116633298	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr11:116633298A>G	uc001ppn.3	-	3	1041	c.1007T>C	c.(1006-1008)tTt>tCt	p.F336S	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.F336S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	336										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTTGTCTCCAAAATGGGATTT	0.443000														118			59		0	0	0.048971	0	0
EPPK1	83481	broad.mit.edu	37	8	144940741	144940741	+	Silent	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr8:144940741C>T	uc003zaa.1	-	0	6694	c.6681G>A	c.(6679-6681)gcG>gcA	p.A2227A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2227						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACGCCCGCGATGCAGC	0.677000														111			4		0	0	0.009096	0	0
SCN1A	6323	broad.mit.edu	37	2	166866330	166866330	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr2:166866330C>T	uc002udo.4	-	21	4128	c.3901G>A	c.(3901-3903)Gca>Aca	p.A1301T	SCN1A_uc010fpk.3_Missense_Mutation_p.A1273T|SCN1A_uc021vsb.1_Missense_Mutation_p.A1290T	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1301						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGGCATTTGCTGTTAAACTG	0.368000														90			3		0	0	0.009096	0	0
TDRD3	81550	broad.mit.edu	37	13	61102844	61102844	+	Silent	SNP	T	C	C			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr13:61102844T>C	uc001vhz.4	+	10	1994	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	TDRD3_uc010aef.2_Silent_p.A227A|TDRD3_uc001via.3_Silent_p.A402A|TDRD3_uc010aeg.3_Silent_p.A495A|TDRD3_uc001vib.4_Silent_p.A401A	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	402					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GTGATGGTGCTTTTAAAAAAA	0.373000														127			3		0	0	0.009096	0	0
EMG1	10436	broad.mit.edu	37	12	7084424	7084424	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr12:7084424G>A	uc001qsh.4	+	5	645	c.502G>A	c.(502-504)Gtt>Att	p.V168I	EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	169					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TCACTTTCCAGTTGGATGTAT	0.443000														42			8		0	0	0.038147	0	0
PDZD2	23037	broad.mit.edu	37	5	32108131	32108131	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr5:32108131A>G	uc003jhl.3	+	24	8798	c.8410A>G	c.(8410-8412)Aat>Gat	p.N2804D	PDZD2_uc003jhm.3_Missense_Mutation_p.N2804D|PDZD2_uc003jhn.3_Non-coding_Transcript|PDZD2_uc003jho.3_Non-coding_Transcript	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2804	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCTTGCTATTAATGGGAAACC	0.403000														63			43		0	0	0.048971	0	0
AL117485	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	A	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr22:18844766G>A	uc002zoe.3	+	3		c.2020G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CAGCCTCTGAGGGCAGCAGTG	0.557000														17			9		0	0	0.047766	0	0
MEP1A	4224	broad.mit.edu	37	6	46801054	46801054	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:46801054A>G	uc011dwh.1	+	9	1480	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MEP1A_uc010jzh.1_Missense_Mutation_p.E463G|MEP1A_uc011dwg.1_Missense_Mutation_p.E185G|MEP1A_uc011dwi.1_Missense_Mutation_p.E363G	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	463	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.G491A(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TACAATTCGGAGGGATATGGT	0.498000														98			17		0	0	0.028581	0	0
STX11	8676	broad.mit.edu	37	6	144507993	144507993	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:144507993C>T	uc003qks.4	+	1	421	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	STX11_uc021zgk.1_Missense_Mutation_p.R77W	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	77					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CACGTCCATGCGGCGCCTCAG	0.627000									Familial Hemophagocytic Lymphohistiocytosis					28			3		0	0	0.009096	0	0
OR52N5	390075	broad.mit.edu	37	11	5799428	5799428	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr11:5799428G>T	uc010qzn.2	-	0	470	c.437C>A	c.(436-438)aCc>aAc	p.T146N	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L145V(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GATAGGGTTGGTGAGTGTGGT	0.507000														16			7		7.48243e-07	8.37319e-07	0.058154	1	0
KIAA2026	158358	broad.mit.edu	37	9	5922386	5922386	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr9:5922386T>G	uc003zjq.4	-	7	3826	c.3610A>C	c.(3610-3612)Agc>Cgc	p.S1204R	KIAA2026_uc010mht.3_Missense_Mutation_p.S379R	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1204										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCACTCTGGCTAGTCTTAACT	0.453000														58			29		0	0	0.030593	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919313	135919313	+	Splice_Site	SNP	G	A	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr9:135919313G>A	uc004ccj.4	+	3	909	c.572_splice	c.e3+1	p.R191_splice	GTF3C5_uc010mzz.2_Splice_Site_p.R66_splice|GTF3C5_uc004cci.4_Splice_Site_p.R191_splice	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	191						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACCCAGCACCGGTAAGGCCCC	0.622000														111			3		0	0	0.004672	0	0
OPN5	221391	broad.mit.edu	37	6	47754339	47754339	+	Silent	SNP	C	A	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:47754339C>A	uc003ozc.3	+	1	247	c.219C>A	c.(217-219)atC>atA	p.I73I	OPN5_uc003ozd.3_5'Flank	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	73					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.I73I(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TAATGACTATCAATTTAGCAG	0.403000														68			32		1.21669e-08	1.42961e-08	0.059317	1	0
GPRC5C	55890	broad.mit.edu	37	17	72428210	72428210	+	Silent	SNP	C	G	G	rs138824950		TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr17:72428210C>G	uc002jkp.3	+	0	544	c.33C>G	c.(31-33)ccC>ccG	p.P11P	GPRC5C_uc002jkq.3_Silent_p.P11P|GPRC5C_uc002jkr.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	0						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGCAACAACCCACACGCCGGC	0.687000														25			3		0	0	0.004672	0	0
FITM1	161247	broad.mit.edu	37	14	24601751	24601751	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr14:24601751G>C	uc001wmf.2	+	1	696	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	200					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CATGGCAGAGGAAGCAGCTGT	0.652000														48			33		0	0	0.054565	0	0
WDR45L	56270	broad.mit.edu	37	17	80579499	80579499	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr17:80579499T>C	uc002kfq.3	-	5	799	c.604A>G	c.(604-606)Act>Gct	p.T202A	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	202					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			TCGGATGCAGTTGCAATTCTT	0.542000														54			9		0	0	0.069234	0	0
DUSP12	11266	broad.mit.edu	37	1	161726704	161726704	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr1:161726704delG	uc001gbo.3	+	5	1001	c.990delG	c.(988-990)ttgfs	p.L330fs		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	330					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGAAAATATTGCCTGTTTTGG	0.373													---	45	---	---	23	---					
GGA3	23163	broad.mit.edu	37	17	73235600	73235601	+	In_Frame_Ins	INS	-	GGT	GGT	rs150787028	by1000genomes	TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr17:73235600_73235601insGGT	uc002jni.2	-	13	1674_1675	c.1635_1636insACC	c.(1633-1638)insACC	p.545_546insT	GGA3_uc002jnk.2_In_Frame_Ins_p.473_474insT|GGA3_uc002jnj.2_In_Frame_Ins_p.512_513insT|GGA3_uc010wry.2_In_Frame_Ins_p.473_474insT|GGA3_uc010wrw.2_In_Frame_Ins_p.423_424insT|GGA3_uc010wrx.2_In_Frame_Ins_p.423_424insT	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	545	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGCCTGGCTGGGGTGGTGGTGG	0.673											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	9	---	---	7	---					
NF2	4771	broad.mit.edu	37	22	30000023	30000024	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr22:30000023_30000024delCT	uc003age.4	+	0	479_480	c.36_37delCT	c.(34-39)agctctfs	p.S12fs	NF2_uc003afy.4_Frame_Shift_Del_p.S12fs|NF2_uc003afz.4_Frame_Shift_Del_p.S12fs|NF2_uc003agf.4_Frame_Shift_Del_p.S12fs|NF2_uc003agb.4_5'UTR|NF2_uc003agc.4_5'UTR|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Frame_Shift_Del_p.S12fs|NF2_uc003aga.4_Frame_Shift_Del_p.S12fs|NF2_uc003agh.4_Frame_Shift_Del_p.S12fs|NF2_uc003agi.4_Frame_Shift_Del_p.S12fs|NF2_uc003agj.4_Frame_Shift_Del_p.S12fs	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	12					Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.L14fs*34(2)|p.S13fs*10(2)|p.F11fs*14(1)|p.S13_K20>*(1)|p.?(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TGAGCTTCAGCTCTCTCAAGAG	0.663			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				---	6	---	---	6	---					
KCNJ4	3761	broad.mit.edu	37	22	38823432	38823433	+	In_Frame_Ins	INS	-	GGA	GGA			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr22:38823432_38823433insGGA	uc003avs.1	-	1	802_803	c.705_706insTCC	c.(703-708)insTCC	p.235_236insS	KCNJ4_uc003avt.1_In_Frame_Ins_p.235_236insS|KCNJ4_uc021wpp.1_In_Frame_Ins_p.235_236insS	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	235					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGTCCAGGGGCAGGTACTCGC	0.629													---	39	---	---	13	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	2	---	---	4	---					
