Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
INTS10	55174	broad.mit.edu	37	8	19682476	19682476	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:19682476C>T	ENST00000397977.3	+	8	1397	c.999C>T	c.(997-999)ctC>ctT	p.L333L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	333					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGCCATCTCTCTTCCAAGGTT	0.398000													3	52					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:105407424C>G	ENST00000333244.5	-	7	14483	c.14364G>C	c.(14362-14364)gaG>gaC	p.E4788D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4788						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGTAACATCCTCACAGGGAG	0.498000													36	80					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:5686409C>T	ENST00000305836.5	-	8	1414	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	371	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCCAGGATCCAAGCAGTTTT	0.403000													7	210					0	0	1	0	0
ANKRD19P	0	broad.mit.edu	37	9	95599910	95599910	+	RNA	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr9:95599910T>C	ENST00000473204.1	+	0	1991																											TTTGAACTTGTCGAACCAGAT	0.557000													3	63					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259294	89259294	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:89259294T>G	ENST00000336596.2	+	3	663	c.438T>G	c.(436-438)atT>atG	p.I146M	EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M|EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	146						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGACACCATTGCAGCTGATG	0.418000										TSP Lung(6;0.00050)			10	207					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													4	49					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:89180005C>T	ENST00000286614.6	-	4	883	c.602G>A	c.(601-603)gGa>gAa	p.G201E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	201					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCCTCCCTCTCCATCAAAGGG	0.443000													36	75					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47108803	47108803	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr18:47108803G>A	ENST00000261292.4	+	7	1386	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	LIPG_ENST00000427224.2_Missense_Mutation_p.V296I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	370	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTTTTACGTCACCCTTTA	0.448000													9	91					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	51					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:46457064T>A	ENST00000263257.5	-	3	564	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	124						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGTTCATCGTGGTTTGGGGT	0.527000													61	144					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553372	19553372	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:19553372C>T	ENST00000536433.1	-	1	3305	c.195G>A	c.(193-195)ccG>ccA	p.P65P	OSR1_ENST00000272223.2_Silent_p.P65P			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	65					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGAAGAGCGCGGCAAGTGCA	0.612000													5	57					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46611177	46611177	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:46611177G>A	ENST00000396000.2	+	4	581	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	PPARA_ENST00000407236.1_Missense_Mutation_p.G106R|PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	106					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TAGAATCTGCGGGGACAAGGC	0.592000													4	52					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:154941890C>T	ENST00000448116.2	-	2	750	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	177	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGGCACGCATTGACTG	0.602000													6	35					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1348988	1348988	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:1348988A>G	ENST00000389851.4	+	7	1578	c.1131A>G	c.(1129-1131)aaA>aaG	p.K377K	UVSSA_ENST00000511216.1_Silent_p.K377K|UVSSA_ENST00000507531.1_Silent_p.K377K	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	377																	TACTGAGAAAATACAAGGAGC	0.627000													16	21					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41005012	41005012	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr5:41005012T>C	ENST00000399564.4	-	36	4325	c.3875A>G	c.(3874-3876)gAa>gGa	p.E1292G	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAGGATTGGTTCCTTCATGAG	0.488000													7	60					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667795	91667795	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:91667795A>G	ENST00000359028.2	+	18	4662	c.4437A>G	c.(4435-4437)ggA>ggG	p.G1479G	AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1479					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGGGGGAAAAGAAAATA	0.318000			T	BRAF	papillary thyroid								4	63					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534595	16534595	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:16534595A>G	ENST00000270747.3	-	3	674	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	ARHGEF19_ENST00000421561.1_Silent_p.L180L	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	180					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCAGACAACTCCACCCTG	0.667000													4	100					0	0	1	0	0
DLST	1743	broad.mit.edu	37	14	75367846	75367846	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:75367846G>A	ENST00000334220.4	+	14	1198	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	DLST_ENST00000334212.6_Silent_p.S293S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	379					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TTTTTGGCTCGCTCTTTGGAA	0.488000													9	118					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66115187	66115187	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:66115187G>A	ENST00000503581.1	-	6	1473	c.936C>T	c.(934-936)agC>agT	p.S312S	EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	312					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAACTGCTATTTGGGC	0.378000													10	131					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739197	62739197	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:62739197C>T	ENST00000371153.4	-	3	1957	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	527										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTCTTTCTGTCGCTGCCCCAC	0.602000													28	74					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33122333	33122333	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:33122333G>A	ENST00000306065.4	-	13	1342	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	395					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.S395L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTGGGAGACGAAGTCATCTG	0.478000													23	104					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:143826812G>A	ENST00000408899.2	+	1	662	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577000													41	356					0	0	1	0	0
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711000													5	29					3.59834e-05	3.80049e-05	1	1	0
BEST4	266675	broad.mit.edu	37	1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:45253307C>T	ENST00000372207.3	-	1	70	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	24						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCTTCCCCTCCAGCGGAGAAG	0.572000													26	215					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:123369870G>A	ENST00000275162.4	+	4	2003	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378000													4	81					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26702725C>A	ENST00000396005.3	-	12	1661	c.1352G>T	c.(1351-1353)tGg>tTg	p.W451L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	451					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGGCCACCCAAAATGACAA	0.448000													3	35					0.004672	0.00482602	1	1	0
PTPRU	10076	broad.mit.edu	37	1	29644362	29644362	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:29644362G>T	ENST00000356870.3	+	26	3744	c.3634G>T	c.(3634-3636)Gac>Tac	p.D1212Y	PTPRU_ENST00000345512.3_Missense_Mutation_p.D1216Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1206Y|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1212Y	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1216	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCCGCCCGACCGCTGCCT	0.637000													17	90					1.99824e-07	2.15901e-07	1	1	0
FHOD1	29109	broad.mit.edu	37	16	67264087	67264087	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:67264087G>A	ENST00000258201.4	-	20	3343	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P	FHOD1_ENST00000567687.1_Silent_p.P611P	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1032					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGGGACAGAGGGGTTGCTGG	0.597000													53	103					0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1278552	1278552	+	RNA	SNP	A	A	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:1278552A>T	ENST00000430512.2	-	0	974				TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GGGGCAGGGAAGGTGTGGGGG	0.647000													8	10					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	rs149070457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:163291905C>A	ENST00000332142.5	-	8	1856	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	586					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.G586E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCCAACCATCCGATTTTGTC	0.433000													5	136					0.184627	0.184627	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158746588	158746588	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:158746588C>T	ENST00000339258.1	-	1	837	c.838G>A	c.(838-840)Gta>Ata	p.V280I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTGTTAGTACGGAGTAAACT	0.423000													8	117					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:87423858T>G	ENST00000517970.1	+	9	1123	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	272					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTCTCCAAATTGCACTAGTA	0.413000													30	55					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167133601	167133601	+	Silent	SNP	G	G	A	rs142070305	by1000genomes	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:167133601G>A	ENST00000303354.6	-	16	3109	c.2769C>T	c.(2767-2769)cgC>cgT	p.R923R	SCN9A_ENST00000375387.4_Silent_p.R923R|SCN9A_ENST00000409672.1_Silent_p.R911R|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.R922R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	922						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACACAGCACGCGGAACACAA	0.483000													28	276					0	0	1	0	0
MYL5	4636	broad.mit.edu	37	4	673714	673714	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:673714G>A	ENST00000506838.1	+	5	2600	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	MYL5_ENST00000511290.1_Missense_Mutation_p.V26I|MYL5_ENST00000505477.1_Missense_Mutation_p.V26I|MYL5_ENST00000400159.2_Missense_Mutation_p.V67I			Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	67					regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						CAAGACCAACGTCAAGGACGA	0.607000													37	58					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr10:81917453C>A	ENST00000438331.1	-	16	1884	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	468					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GATCTGATGTCCAGGAGGTCG	0.577000													7	93					0.0293803	0.030019	1	1	0
MYH2	4620	broad.mit.edu	37	17	10432357	10432357	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10432357G>A	ENST00000245503.5	-	27	3778	c.3394C>T	c.(3394-3396)Cgg>Tgg	p.R1132W	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1132					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGGAGGCCCGCTCTGCCTCG	0.602000													52	107					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95862991	95862991	+	Silent	SNP	G	G	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr13:95862991G>C	ENST00000376887.4	-	5	690	c.576C>G	c.(574-576)ggC>ggG	p.G192G	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000412704.1_Silent_p.G192G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	192	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGACTATCTGGCCTGTGGTTG	0.438000													6	42					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048227	6048227	+	Silent	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:6048227T>C	ENST00000316650.5	-	1	744	c.708A>G	c.(706-708)aaA>aaG	p.K236K		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTCTGCTTTGAATCTAA	0.488000													37	51					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134734	128134734	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:128134734G>A	ENST00000368250.1	-	5	1313	c.815C>T	c.(814-816)aCg>aTg	p.T272M	THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M|THEMIS_ENST00000368248.2_Missense_Mutation_p.T351M|THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	351	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCATAGGCCGTTGGGAACTC	0.473000													16	144					0	0	1	0	0
LPO	0	broad.mit.edu	37	17	56343598	56343598	+	Missense_Mutation	SNP	G	G	A	rs144914036	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:56343598G>A	ENST00000262290.4	+	11	1920	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	LPO_ENST00000543544.1_Missense_Mutation_p.R476H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000421678.2_Missense_Mutation_p.R452H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	535					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R535H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGAGCTGCGCAACAAGCTT	0.547000													6	70					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33581376	33581376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:33581376G>A	ENST00000321505.4	+	6	3226	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I					KIAA1549-like																		CAACGGCACCGTCGCCAGCAG	0.567000													15	219					0	0	1	0	0
CHD6	0	broad.mit.edu	37	20	40192693	40192693	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr20:40192693G>A	ENST00000373222.3	-	2	133	c.95C>T	c.(94-96)aCg>aTg	p.T32M	CHD6_ENST00000373233.3_Intron|CHD6_ENST00000309279.7_Intron			Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2343					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				gaacacaagcgttgtgggatt	0.408000													10	29					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026830	37026830	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:37026830C>T	ENST00000358047.3	+	1	399	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	116										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCACGGAAGGCGTTCGTAGAG	0.547000													22	77					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925308	133925308	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:133925308C>T	ENST00000220616.4	+	20	4216	c.4176C>T	c.(4174-4176)ggC>ggT	p.G1392G	TG_ENST00000377869.1_Silent_p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1392					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGTGGGCAAGGATCTCC	0.557000													27	43					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45846600	45846600	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr21:45846600G>A	ENST00000397928.1	+	26	4298	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1285						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACGCGGCCGCCATGGACCC	0.592000													6	141					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C|MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617000													9	274					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666077	157666077	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:157666077G>A	ENST00000368184.3	-	7	1176	c.885C>T	c.(883-885)acC>acT	p.T295T	FCRL3_ENST00000368186.5_Silent_p.T295T|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	295	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.T295T(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTGCCCTCCGGTGGGCCGGA	0.517000													16	157					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47776029	47776029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:47776029C>T	ENST00000489301.2	+	5	981	c.896C>T	c.(895-897)gCg>gTg	p.A299V	OPN5_ENST00000371211.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAATCTGCAGCGATGTACAAT	0.453000													58	129					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:113518488C>A	ENST00000284601.3	-	4	2727	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	887					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGATAATTCTTGAACCTGC	0.363000													5	96					0.184627	0.184627	1	1	0
MAGI3	260425	broad.mit.edu	37	1	114201721	114201721	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:114201721C>T	ENST00000369615.1	+	16	2711	c.2649C>T	c.(2647-2649)ggC>ggT	p.G883G	MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000369611.4_Silent_p.G883G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	908	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAATTGGCCGAGTCATAG	0.378000													4	111					0	0	1	0	0
HNRNPD	3184	broad.mit.edu	37	4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:83280638C>A	ENST00000313899.7	-	3	722	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	149	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTACACTCTCCGATTCTTTA	0.358000													11	96					4.3838e-07	4.6827e-07	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38962717	38962717	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:38962717G>A	ENST00000302328.3	-	6	940	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R248C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	248					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTCACAGAGCGTAGCAAGGCC	0.537000													8	221					0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47095220	47095220	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:47095220G>A	ENST00000216264.8	-	8	1045	c.933C>T	c.(931-933)taC>taT	p.Y311Y	CERK_ENST00000541677.1_Silent_p.Y113Y	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	311					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGAAAAGTCGTATCTGGCAA	0.552000													17	127					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27169828	27169828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:27169828G>A	ENST00000288699.6	+	13	1818	c.1660G>A	c.(1660-1662)Gct>Act	p.A554T	DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	554					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGATCCTCGCTCCTCCCGG	0.617000													10	37					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423557	13423557	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:13423557C>T	ENST00000360228.5	-	12	1593	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.E533K(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATAAACATTTCGGACATAAAG	0.458000													4	64					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925416	4925416	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrY:4925416G>A	ENST00000333703.4	+	4	1032	c.519G>A	c.(517-519)tcG>tcA	p.S173S	PCDH11Y_ENST00000215473.6_Silent_p.S184S|PCDH11Y_ENST00000362095.5_Silent_p.S184S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGAGAACTCGGCTATAAACT	0.363000													5	45					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													5	51					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:160466146C>T	ENST00000368059.3	-	2	156	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	29						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCGTTCACCATCAATGGGG	0.458000													8	283					0	0	1	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:152957847G>T	ENST00000307122.2	+	2	205	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	47	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCTGAGCCCTGCCACC	0.642000													21	250					2.4624e-09	2.69146e-09	1	1	0
ADAM23	8745	broad.mit.edu	37	2	207435477	207435477	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:207435477C>T	ENST00000264377.3	+	16	1836	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M|ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	503	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTTGAGCCCACGGAATGTGGA	0.418000													7	51					0	0	1	0	0
CSF2RA	0	broad.mit.edu	37	X	1401455	1401455	+	Splice_Site	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:1401455T>G	ENST00000432318.2	+	3	296		c.e3+2		CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381524.3_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000355432.3_Intron	NM_001161529.1	NP_001155001.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)							extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTTGACCAGGTCAGCGGCTGA	0.557000													18	34					0	0	1	0	0
TNF	7124	broad.mit.edu	37	6	31544556	31544556	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:31544556G>A	ENST00000449264.2	+	3	420	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	82					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TCATCTTCTCGAACCCCGAGT	0.502000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				16	201					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867973	30867973	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr12:30867973T>A	ENST00000251071.5	-	15	3320	c.2570A>T	c.(2569-2571)aAt>aTt	p.N857I	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	857					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCCGGCTATTGACAAATGG	0.438000													4	135					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876987	38876987	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:38876987A>G	ENST00000334928.6	-	3	1047	c.915T>C	c.(913-915)gtT>gtC	p.V305V	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	305	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCTCGAGAAACCTCTCCCA	0.697000													4	39					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													3	56					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4529255	4529255	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:4529255G>A	ENST00000381848.3	-	5	430	c.350C>T	c.(349-351)tCa>tTa	p.S117L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	117						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCCTTGGCTGAGGTCACCAC	0.667000													9	137					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773444	145773444	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:145773444G>A	ENST00000276826.5	-	4	1227	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_ENST00000377307.2_Silent_p.A342A|ARHGAP39_ENST00000540274.1_Silent_p.A342A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	342	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGAGAGCCGGCCTGGTAGC	0.706000													7	63					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:44700525T>C	ENST00000396056.2	+	4	905	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	224					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCCTTTTACGTGTAGCGTGTG	0.428000													7	131					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792152	79792152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:79792152C>T	ENST00000335016.5	+	11	1613	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	483	Gln/His-rich.			Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcagcagca	0.507000													6	62					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890607	229890607	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:229890607C>T	ENST00000392054.3	-	4	827	c.488G>A	c.(487-489)cGc>cAc	p.R163H	PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.R165H|PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000392055.3_Missense_Mutation_p.R132H	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	165	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTAGGCGATGCGGGCCACCTG	0.582000													6	145					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52255490	52255490	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:52255490G>A	ENST00000597542.1	-	9	3871	c.2914C>T	c.(2914-2916)Cgc>Tgc	p.R972C	TLR9_ENST00000360658.2_Missense_Mutation_p.R948C|TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V			Q9NR96	TLR9_HUMAN	toll-like receptor 9	948	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AAGCTGGCGCGCAAGAGACCA	0.662000													4	110					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579425	44579425	+	Missense_Mutation	SNP	C	C	T	rs146842539		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:44579425C>T	ENST00000289547.4	-	2	626	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	191					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGCCATACACGCCACACATG	0.612000													5	98					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26586841C>T	ENST00000436318.2	-	2	779	c.646G>A	c.(646-648)Gga>Aga	p.G216R	MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	189						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAAGCCATCCACTTGGTTCC	0.413000													7	107					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90160995	90160995	+	RNA	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:90160995C>T	ENST00000567960.1	+	0	225				TUBB8P7_ENST00000564451.1_RNA														p.S75S(1)									CCATGGACTCCGTGCGCTCGG	0.692000													20	145					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5038194	5038194	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:5038194G>A	ENST00000251170.7	+	4	438	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	86	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAACATCTTGAACTGGAAGG	0.622000													18	35					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110592992	110592992	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:110592992C>T	ENST00000369795.3	+	18	1939	c.1917C>T	c.(1915-1917)tgC>tgT	p.C639C	STRIP1_ENST00000369796.1_Silent_p.C544C	NM_033088.2	NP_149079.2			striatin interacting protein 1																		ACCCTCACTGCGTGGTGCATG	0.612000													6	60					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123456319	123456319	+	Silent	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:123456319G>T	ENST00000360772.3	-	9	1038	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I			Q15746	MYLK_HUMAN	myosin light chain kinase	220	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGACTCCATGGATTTCCAGAA	0.547000													9	218					1.04858e-14	1.17341e-14	1	1	0
INTS10	55174	broad.mit.edu	37	8	19682476	19682476	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:19682476C>T	ENST00000397977.3	+	8	1397	c.999C>T	c.(997-999)ctC>ctT	p.L333L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	333					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGCCATCTCTCTTCCAAGGTT	0.398000													3	52					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr14:105407424C>G	ENST00000333244.5	-	7	14483	c.14364G>C	c.(14362-14364)gaG>gaC	p.E4788D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4788						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGTAACATCCTCACAGGGAG	0.498000													36	80					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:5686409C>T	ENST00000305836.5	-	8	1414	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	371	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCCAGGATCCAAGCAGTTTT	0.403000													7	210					0	0	1	0	0
ANKRD19P	0	broad.mit.edu	37	9	95599910	95599910	+	RNA	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr9:95599910T>C	ENST00000473204.1	+	0	1991																											TTTGAACTTGTCGAACCAGAT	0.557000													3	63					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259294	89259294	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:89259294T>G	ENST00000336596.2	+	3	663	c.438T>G	c.(436-438)atT>atG	p.I146M	EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	146						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGACACCATTGCAGCTGATG	0.418000										TSP Lung(6;0.00050)			10	207					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:89180005C>T	ENST00000286614.6	-	4	883	c.602G>A	c.(601-603)gGa>gAa	p.G201E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	201					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCCTCCCTCTCCATCAAAGGG	0.443000													36	75					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47108803	47108803	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr18:47108803G>A	ENST00000261292.4	+	7	1386	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	LIPG_ENST00000427224.2_Missense_Mutation_p.V296I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	370	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTTTTACGTCACCCTTTA	0.448000													9	91					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	51					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:46457064T>A	ENST00000263257.5	-	3	564	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	124						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGTTCATCGTGGTTTGGGGT	0.527000													61	144					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:26702725C>A	ENST00000396005.3	-	12	1661	c.1352G>T	c.(1351-1353)tGg>tTg	p.W451L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	451					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGGCCACCCAAAATGACAA	0.448000													3	35					0.004672	0.00483689	1	1	0
OSR1	130497	broad.mit.edu	37	2	19553372	19553372	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:19553372C>T	ENST00000536433.1	-	1	3305	c.195G>A	c.(193-195)ccG>ccA	p.P65P	OSR1_ENST00000272223.2_Silent_p.P65P			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	65					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGAAGAGCGCGGCAAGTGCA	0.612000													5	57					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46611177	46611177	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr22:46611177G>A	ENST00000396000.2	+	4	581	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000407236.1_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	106					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TAGAATCTGCGGGGACAAGGC	0.592000													4	52					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:154941890C>T	ENST00000448116.2	-	2	750	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	177	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGGCACGCATTGACTG	0.602000													6	35					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1348988	1348988	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:1348988A>G	ENST00000389851.4	+	7	1578	c.1131A>G	c.(1129-1131)aaA>aaG	p.K377K	UVSSA_ENST00000511216.1_Silent_p.K377K|UVSSA_ENST00000507531.1_Silent_p.K377K	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	377																	TACTGAGAAAATACAAGGAGC	0.627000													16	21					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41005012	41005012	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr5:41005012T>C	ENST00000399564.4	-	36	4325	c.3875A>G	c.(3874-3876)gAa>gGa	p.E1292G	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAGGATTGGTTCCTTCATGAG	0.488000													7	60					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667795	91667795	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:91667795A>G	ENST00000359028.2	+	18	4662	c.4437A>G	c.(4435-4437)ggA>ggG	p.G1479G	AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1479					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGGGGGAAAAGAAAATA	0.318000			T	BRAF	papillary thyroid								4	63					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534595	16534595	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:16534595A>G	ENST00000270747.3	-	3	674	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	ARHGEF19_ENST00000421561.1_Silent_p.L180L	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	180					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCAGACAACTCCACCCTG	0.667000													4	100					0	0	1	0	0
DLST	1743	broad.mit.edu	37	14	75367846	75367846	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr14:75367846G>A	ENST00000334220.4	+	14	1198	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	DLST_ENST00000334212.6_Silent_p.S293S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	379					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TTTTTGGCTCGCTCTTTGGAA	0.488000													9	118					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66115187	66115187	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:66115187G>A	ENST00000503581.1	-	6	1473	c.936C>T	c.(934-936)agC>agT	p.S312S	EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000393380.2_Silent_p.S312S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	312					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAACTGCTATTTGGGC	0.378000													10	131					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739197	62739197	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:62739197C>T	ENST00000371153.4	-	3	1957	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	527										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTCTTTCTGTCGCTGCCCCAC	0.602000													28	74					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33122333	33122333	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:33122333G>A	ENST00000306065.4	-	13	1342	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	395					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.S395L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTGGGAGACGAAGTCATCTG	0.478000													23	104					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:143826812G>A	ENST00000408899.2	+	1	662	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577000													41	356					0	0	1	0	0
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711000													5	29					3.59834e-05	3.76969e-05	1	1	0
BEST4	266675	broad.mit.edu	37	1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:45253307C>T	ENST00000372207.3	-	1	70	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	24						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCTTCCCCTCCAGCGGAGAAG	0.572000													26	215					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:123369870G>A	ENST00000275162.4	+	4	2003	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378000													4	81					0	0	1	0	0
RP11-14N7.2	0	broad.mit.edu	37	1	148933289	148933289	+	RNA	SNP	A	A	G	rs9729175	by1000genomes	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.1																						TGCTGCCCGCAGGATATTGTG	0.562000													3	15					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29644362	29644362	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:29644362G>T	ENST00000323874.8	+	26	3744	c.3634G>T	c.(3634-3636)Gac>Tac	p.D1212Y	PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1212Y|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1206Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000345512.3_Missense_Mutation_p.D1216Y			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1216	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCCGCCCGACCGCTGCCT	0.637000													17	90					1.99824e-07	2.17092e-07	1	1	0
FHOD1	29109	broad.mit.edu	37	16	67264087	67264087	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr16:67264087G>A	ENST00000258201.4	-	20	3343	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P	FHOD1_ENST00000567687.1_Silent_p.P611P	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1032					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGGGACAGAGGGGTTGCTGG	0.597000													53	103					0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1278552	1278552	+	RNA	SNP	A	A	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr16:1278552A>T	ENST00000430512.2	-	0	974				TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GGGGCAGGGAAGGTGTGGGGG	0.647000													8	10					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	rs149070457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:163291905C>A	ENST00000332142.5	-	8	1856	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	586					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.G586E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCCAACCATCCGATTTTGTC	0.433000													5	136					0.184627	0.184627	1	1	0
WWP1	11059	broad.mit.edu	37	8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:87423858T>G	ENST00000517970.1	+	9	1123	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	272					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTCTCCAAATTGCACTAGTA	0.413000													30	55					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167133601	167133601	+	Silent	SNP	G	G	A	rs142070305	by1000genomes	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:167133601G>A	ENST00000303354.6	-	16	3109	c.2769C>T	c.(2767-2769)cgC>cgT	p.R923R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.R923R|SCN9A_ENST00000409435.1_Silent_p.R922R|SCN9A_ENST00000409672.1_Silent_p.R911R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	922						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACACAGCACGCGGAACACAA	0.483000													28	276					0	0	1	0	0
MYL5	4636	broad.mit.edu	37	4	673714	673714	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:673714G>A	ENST00000506838.1	+	5	2600	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	MYL5_ENST00000511290.1_Missense_Mutation_p.V26I|MYL5_ENST00000400159.2_Missense_Mutation_p.V67I|MYL5_ENST00000505477.1_Missense_Mutation_p.V26I			Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	67					regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						CAAGACCAACGTCAAGGACGA	0.607000													37	58					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr10:81917453C>A	ENST00000438331.1	-	16	1884	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	468					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GATCTGATGTCCAGGAGGTCG	0.577000													7	93					0.0293803	0.0300636	1	1	0
MYH2	4620	broad.mit.edu	37	17	10432357	10432357	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr17:10432357G>A	ENST00000245503.5	-	27	3778	c.3394C>T	c.(3394-3396)Cgg>Tgg	p.R1132W	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1132					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGGAGGCCCGCTCTGCCTCG	0.602000													52	107					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95862991	95862991	+	Silent	SNP	G	G	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr13:95862991G>C	ENST00000376887.4	-	5	690	c.576C>G	c.(574-576)ggC>ggG	p.G192G	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000412704.1_Silent_p.G192G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	192	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGACTATCTGGCCTGTGGTTG	0.438000													6	42					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048227	6048227	+	Silent	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:6048227T>C	ENST00000316650.5	-	1	744	c.708A>G	c.(706-708)aaA>aaG	p.K236K		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTCTGCTTTGAATCTAA	0.488000													37	51					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134734	128134734	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:128134734G>A	ENST00000368250.1	-	5	1313	c.815C>T	c.(814-816)aCg>aTg	p.T272M	THEMIS_ENST00000368248.2_Missense_Mutation_p.T351M|THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	351	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCATAGGCCGTTGGGAACTC	0.473000													16	144					0	0	1	0	0
LPO	0	broad.mit.edu	37	17	56343598	56343598	+	Missense_Mutation	SNP	G	G	A	rs144914036	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr17:56343598G>A	ENST00000262290.4	+	11	1920	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	LPO_ENST00000421678.2_Missense_Mutation_p.R452H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000543544.1_Missense_Mutation_p.R476H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	535					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R535H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGAGCTGCGCAACAAGCTT	0.547000													6	70					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33581376	33581376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:33581376G>A	ENST00000321505.4	+	6	3226	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I					KIAA1549-like																		CAACGGCACCGTCGCCAGCAG	0.567000													15	219					0	0	1	0	0
CHD6	0	broad.mit.edu	37	20	40192693	40192693	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr20:40192693G>A	ENST00000373222.3	-	2	133	c.95C>T	c.(94-96)aCg>aTg	p.T32M	CHD6_ENST00000309279.7_Intron|CHD6_ENST00000373233.3_Intron			Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2343					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				gaacacaagcgttgtgggatt	0.408000													10	29					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925308	133925308	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:133925308C>T	ENST00000220616.4	+	20	4216	c.4176C>T	c.(4174-4176)ggC>ggT	p.G1392G	TG_ENST00000377869.1_Silent_p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1392					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGTGGGCAAGGATCTCC	0.557000													27	43					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45846600	45846600	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr21:45846600G>A	ENST00000397928.1	+	26	4298	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1285						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACGCGGCCGCCATGGACCC	0.592000													6	141					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617000													9	274					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666077	157666077	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:157666077G>A	ENST00000368184.3	-	7	1176	c.885C>T	c.(883-885)acC>acT	p.T295T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T295T|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	295	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.T295T(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTGCCCTCCGGTGGGCCGGA	0.517000													16	157					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026830	37026830	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chrX:37026830C>T	ENST00000358047.3	+	1	399	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	116										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCACGGAAGGCGTTCGTAGAG	0.547000													22	77					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:113518488C>A	ENST00000284601.3	-	4	2727	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	887					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGATAATTCTTGAACCTGC	0.363000													5	96					0.184627	0.184627	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158746588	158746588	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:158746588C>T	ENST00000339258.1	-	1	837	c.838G>A	c.(838-840)Gta>Ata	p.V280I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTGTTAGTACGGAGTAAACT	0.423000													8	117					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114201721	114201721	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:114201721C>T	ENST00000369615.1	+	16	2711	c.2649C>T	c.(2647-2649)ggC>ggT	p.G883G	MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	908	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAATTGGCCGAGTCATAG	0.378000													4	111					0	0	1	0	0
HNRNPD	3184	broad.mit.edu	37	4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:83280638C>A	ENST00000313899.7	-	3	722	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*|HNRNPD_ENST00000541060.1_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	149	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTACACTCTCCGATTCTTTA	0.358000													11	96					4.3838e-07	4.70457e-07	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38962717	38962717	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:38962717G>A	ENST00000302328.3	-	6	940	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R248C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	248					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTCACAGAGCGTAGCAAGGCC	0.537000													8	221					0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47095220	47095220	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr22:47095220G>A	ENST00000216264.8	-	8	1045	c.933C>T	c.(931-933)taC>taT	p.Y311Y	CERK_ENST00000541677.1_Silent_p.Y113Y	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	311					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGAAAAGTCGTATCTGGCAA	0.552000													17	127					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27169828	27169828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:27169828G>A	ENST00000288699.6	+	13	1818	c.1660G>A	c.(1660-1662)Gct>Act	p.A554T	DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	554					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGATCCTCGCTCCTCCCGG	0.617000													10	37					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423557	13423557	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:13423557C>T	ENST00000360228.5	-	12	1593	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.E533K(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATAAACATTTCGGACATAAAG	0.458000													4	64					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925416	4925416	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chrY:4925416G>A	ENST00000333703.4	+	4	1032	c.519G>A	c.(517-519)tcG>tcA	p.S173S	PCDH11Y_ENST00000362095.5_Silent_p.S184S|PCDH11Y_ENST00000215473.6_Silent_p.S184S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGAGAACTCGGCTATAAACT	0.363000													5	45					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47776029	47776029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:47776029C>T	ENST00000489301.2	+	5	981	c.896C>T	c.(895-897)gCg>gTg	p.A299V	OPN5_ENST00000393699.2_Missense_Mutation_p.A299V|OPN5_ENST00000371211.2_Missense_Mutation_p.A299V|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAATCTGCAGCGATGTACAAT	0.453000													58	129					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:160466146C>T	ENST00000368059.3	-	2	156	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	29						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCGTTCACCATCAATGGGG	0.458000													8	283					0	0	1	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:152957847G>T	ENST00000307122.2	+	2	205	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	47	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCTGAGCCCTGCCACC	0.642000													21	250					2.4624e-09	2.70864e-09	1	1	0
ADAM23	8745	broad.mit.edu	37	2	207435477	207435477	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:207435477C>T	ENST00000264377.3	+	16	1836	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M|ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	503	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTTGAGCCCACGGAATGTGGA	0.418000													7	51					0	0	1	0	0
CSF2RA	0	broad.mit.edu	37	X	1401455	1401455	+	Splice_Site	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chrX:1401455T>G	ENST00000432318.2	+	3	296		c.e3+2		CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381524.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000355805.2_Intron	NM_001161529.1	NP_001155001.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)							extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTTGACCAGGTCAGCGGCTGA	0.557000													18	34					0	0	1	0	0
TNF	7124	broad.mit.edu	37	6	31544556	31544556	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr6:31544556G>A	ENST00000449264.2	+	3	420	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	82					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TCATCTTCTCGAACCCCGAGT	0.502000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				16	201					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867973	30867973	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr12:30867973T>A	ENST00000251071.5	-	15	3320	c.2570A>T	c.(2569-2571)aAt>aTt	p.N857I	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	857					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCCGGCTATTGACAAATGG	0.438000													4	135					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876987	38876987	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:38876987A>G	ENST00000334928.6	-	3	1047	c.915T>C	c.(913-915)gtT>gtC	p.V305V	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	305	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCTCGAGAAACCTCTCCCA	0.697000													4	39					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4529255	4529255	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr19:4529255G>A	ENST00000381848.3	-	5	430	c.350C>T	c.(349-351)tCa>tTa	p.S117L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	117						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCCTTGGCTGAGGTCACCAC	0.667000													9	137					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773444	145773444	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr8:145773444G>A	ENST00000276826.5	-	4	1227	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_ENST00000377307.2_Silent_p.A342A|ARHGAP39_ENST00000540274.1_Silent_p.A342A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	342	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGAGAGCCGGCCTGGTAGC	0.706000													7	63					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:44700525T>C	ENST00000396056.2	+	4	905	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	224					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCCTTTTACGTGTAGCGTGTG	0.428000													7	131					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792152	79792152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:79792152C>T	ENST00000335016.5	+	11	1613	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	483	Gln/His-rich.			Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcagcagca	0.507000													6	62					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890607	229890607	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:229890607C>T	ENST00000392054.3	-	4	827	c.488G>A	c.(487-489)cGc>cAc	p.R163H	PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000392055.3_Missense_Mutation_p.R132H|PID1_ENST00000354069.6_Missense_Mutation_p.R165H|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	165	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTAGGCGATGCGGGCCACCTG	0.582000													6	145					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52255490	52255490	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:52255490G>A	ENST00000597542.1	-	9	3871	c.2914C>T	c.(2914-2916)Cgc>Tgc	p.R972C	TLR9_ENST00000360658.2_Missense_Mutation_p.R948C|TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V			Q9NR96	TLR9_HUMAN	toll-like receptor 9	948	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AAGCTGGCGCGCAAGAGACCA	0.662000													4	110					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579425	44579425	+	Missense_Mutation	SNP	C	C	T	rs146842539		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:44579425C>T	ENST00000289547.4	-	2	626	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	191					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGCCATACACGCCACACATG	0.612000													5	98					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr11:26586841C>T	ENST00000436318.2	-	2	779	c.646G>A	c.(646-648)Gga>Aga	p.G216R	MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	189						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAAGCCATCCACTTGGTTCC	0.413000													7	107					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90160995	90160995	+	RNA	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr16:90160995C>T	ENST00000567960.1	+	0	225				TUBB8P7_ENST00000564451.1_RNA														p.S75S(1)									CCATGGACTCCGTGCGCTCGG	0.692000													20	145					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5038194	5038194	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr16:5038194G>A	ENST00000251170.7	+	4	438	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	86	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAACATCTTGAACTGGAAGG	0.622000													18	35					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110592992	110592992	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:110592992C>T	ENST00000369795.3	+	18	1939	c.1917C>T	c.(1915-1917)tgC>tgT	p.C639C	STRIP1_ENST00000369796.1_Silent_p.C544C	NM_033088.2	NP_149079.2			striatin interacting protein 1																		ACCCTCACTGCGTGGTGCATG	0.612000													6	60					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123456319	123456319	+	Silent	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr3:123456319G>T	ENST00000360772.3	-	9	1038	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I			Q15746	MYLK_HUMAN	myosin light chain kinase	220	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGACTCCATGGATTTCCAGAA	0.547000													9	218					1.04858e-14	1.18301e-14	1	1	0
EVI5	7813	broad.mit.edu	37	1	92979385	92979385	+	Frame_Shift_Del	DEL	C	C	-	rs146602523		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:92979385delC	ENST00000370331.1	-	18	2270	c.2261delG	c.(2260-2262)gtfs	p.G754fs	EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	754	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAACCAACACCAGTTTCCTG	0.433													36	79	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	RNA	DEL	T	T	-	rs2005502	by1000genomes	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244													6	6	---	---	---	---					
TMPRSS11F	389208	broad.mit.edu	37	4	68938119	68938119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:68938119delT	ENST00000356291.2	-	5	495	c.436delA	c.(436-438)ttfs	p.I146fs	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	146	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCCTTTTCAATTTTTTTCTTG	0.313													20	43	---	---	---	---					
RP11-65M17.3	0	broad.mit.edu	37	11	112332120	112332121	+	RNA	INS	-	-	T	rs111710457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:112332120_112332121insT	ENST00000528496.1	+	0	231																											CTGATTTTATGTTTTTTTTTTT	0.376													2	4	---	---	---	---					
EVI5	7813	broad.mit.edu	37	1	92979385	92979385	+	Frame_Shift_Del	DEL	C	C	-	rs146602523		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr1:92979385delC	ENST00000370331.1	-	18	2270	c.2261delG	c.(2260-2262)gtfs	p.G754fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	754	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAACCAACACCAGTTTCCTG	0.433													36	79	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	RNA	DEL	T	T	-	rs2005502	by1000genomes	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244													6	6	---	---	---	---					
TMPRSS11F	389208	broad.mit.edu	37	4	68938119	68938119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr4:68938119delT	ENST00000356291.2	-	5	495	c.436delA	c.(436-438)ttfs	p.I146fs	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	146	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCCTTTTCAATTTTTTTCTTG	0.313													20	43	---	---	---	---					
CCT6P1	0	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	0a2f5bdf-5d81-493a-9df6-67383310079a	g.chr7:65222951delT	ENST00000442266.1	+	0	561																											TTTCTGTAACTTTTTTTTTTT	0.323													2	4	---	---	---	---					
