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
TTLL10	254173	broad.mit.edu	37	1	1120451	1120451	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:1120451C>T	uc001acy.2	+	12	1514	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	TTLL10_uc010nyg.1_Missense_Mutation_p.R455W|TTLL10_uc001acz.2_Missense_Mutation_p.R382W	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	455	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAAGGCCCGGGGCCTCGC	0.612												
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:16255142_16255143delGA	uc001axk.1	+	10	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs	SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431												
ADC	113451	broad.mit.edu	37	1	33583680	33583681	+	Frame_Shift_Ins	INS	-	-	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:33583680_33583681insC	uc009vug.3	+	7	1339_1340	c.1267_1268insC	c.(1267-1269)gccfs	p.A423fs	ADC_uc001bwr.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bws.3_Frame_Shift_Ins_p.A403fs|ADC_uc009vue.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bwt.1_Frame_Shift_Ins_p.A308fs|ADC_uc001bwu.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwv.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwx.1_Frame_Shift_Ins_p.A380fs	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	403					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GGGGACCCAGGCCTGCCACATC	0.614												
TCHH	7062	broad.mit.edu	37	1	152081494	152081494	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:152081494C>T	uc009wne.1	-	2	4471	c.4199G>A	c.(4198-4200)cGc>cAc	p.R1400H	TCHH_uc001ezp.2_Missense_Mutation_p.R1400H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1400	23 X 26 AA approximate tandem repeats.		R -> P (found in a renal cell carcinoma sample; somatic mutation).		keratinization	cytoskeleton	calcium ion binding	p.R1400P(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGCAGCGCAGCTGCTG	0.587												
PCP4L1	654790	broad.mit.edu	37	1	161253488	161253488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:161253488C>T	uc001gad.3	+	1	288	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	14										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCAACCAACCAGGCAGCTGG	0.428												
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:181680102_181680103delAG	uc009wxt.3	+	7	1263_1264	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.K356fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.K356fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.K356fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510												
NMNAT2	23057	broad.mit.edu	37	1	183261948	183261948	+	Silent	SNP	G	G	A	rs138225647		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:183261948G>A	uc001gqc.2	-	2	451	c.219C>T	c.(217-219)gcC>gcT	p.A73A	NMNAT2_uc001gqb.2_Silent_p.A68A|NMNAT2_uc001gqd.3_5'Flank	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	73					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AATTCTGGACGGCCAGCTGAC	0.562												
AKR1C4	1109	broad.mit.edu	37	10	5254979	5254979	+	Missense_Mutation	SNP	C	C	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:5254979C>A	uc001ihw.2	+	6	736	c.703C>A	c.(703-705)Ctt>Att	p.L235I		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	235					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CTCCCCAGTTCTTTTGGAGGA	0.527												
HPS6	79803	broad.mit.edu	37	10	103825336	103825336	+	Silent	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:103825336T>C	uc001kuj.3	+	0	213	c.105T>C	c.(103-105)cgT>cgC	p.R35R		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	35						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCCGAGTCCGTGGCAGTCCGG	0.756									Hermansky-Pudlak syndrome			
NPAS4	266743	broad.mit.edu	37	11	66192484	66192484	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:66192484C>T	uc001ohx.1	+	6	2299	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M	NPAS4_uc010rpc.1_Missense_Mutation_p.T498M	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	708					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAAGAGACGCCCGTGGAA	0.612												
CABP4	57010	broad.mit.edu	37	11	67225127	67225127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:67225127C>T	uc001olo.3	+	3	702	c.625C>T	c.(625-627)Cga>Tga	p.R209*	CABP4_uc001oln.3_Nonsense_Mutation_p.R104*	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	209	EF-hand 3.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCTGGGGGTGCGAGAGCTGCG	0.637												
SORL1	6653	broad.mit.edu	37	11	121424742	121424742	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:121424742G>A	uc001pxx.3	+	16	2492	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	788					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCGGGCTACGGGCAGCAGTG	0.562												
TFDP1	7027	broad.mit.edu	37	13	114294537	114294537	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr13:114294537C>T	uc001vtw.3	+	11	1400	c.1188C>T	c.(1186-1188)gaC>gaT	p.D396D	TFDP1_uc010tkd.2_Silent_p.D297D|TFDP1_uc010tke.2_Silent_p.D367D|TFDP1_uc001vty.4_Silent_p.D392D	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	396	Asp/Glu-rich (acidic; NCB domain).				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			tcggggaggacgacgaggagg	0.557										TSP Lung(29;0.18)		
CDC42BPB	9578	broad.mit.edu	37	14	103523372	103523372	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr14:103523372G>A	uc001ymi.1	-	0	371	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	47					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGTCGCGGCGCAGGGCCGAG	0.721												
abParts	8755	broad.mit.edu	37	14	107099305	107099305	+	Splice_Site	SNP	T	T	C	rs117541988	by1000genomes	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr14:107099305T>C	uc021ser.1	-	105		c.4783A>G								Parts of antibodies, mostly variable regions.																		AAACCCTTTCTTGGAGCCTGG	0.542												
FAM214A	56204	broad.mit.edu	37	15	52902145	52902145	+	Silent	SNP	A	A	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr15:52902145A>G	uc010ugf.2	-	4	1121	c.987T>C	c.(985-987)ggT>ggC	p.G329G	FAM214A_uc002acg.4_Silent_p.G322G|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.G234G	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	322																	TATCACCTATACCACTAAAGC	0.383												
ANPEP	290	broad.mit.edu	37	15	90349552	90349552	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr15:90349552G>A	uc002bop.4	-	1	555	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	88	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGGTCTCAGCGTCACCCGGTA	0.597												
NOD2	64127	broad.mit.edu	37	16	50745689	50745689	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:50745689C>G	uc002egm.1	+	3	1972	c.1867C>G	c.(1867-1869)Cca>Gca	p.P623A	NOD2_uc021tia.1_Missense_Mutation_p.P455A|NOD2_uc010cbk.1_Missense_Mutation_p.P596A|NOD2_uc002egl.1_Missense_Mutation_p.P401A|NOD2_uc010cbl.1_Missense_Mutation_p.P401A|NOD2_uc010cbm.1_Missense_Mutation_p.P401A|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	623					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGATGTGCCACCAGCTTTGCT	0.582												
NUP93	9688	broad.mit.edu	37	16	56865910	56865910	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:56865910G>A	uc002eka.3	+	10	1363	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	NUP93_uc002ekb.3_Silent_p.L291L|NUP93_uc010vhi.2_Silent_p.L291L	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	414					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGGATTACCTGTGGCTGAAGG	0.502												
CDYL2	124359	broad.mit.edu	37	16	80718650	80718650	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:80718650G>A	uc002ffs.3	-	1	506	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	134						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTAAGACACCGTCTTGGTGGC	0.537												
NLRP1	22861	broad.mit.edu	37	17	5418262	5418262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:5418262G>A	uc002gci.3	-	16	4789	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gck.3_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gcj.3_Nonsense_Mutation_p.Q1382*|NLRP1_uc002gcl.3_Nonsense_Mutation_p.Q1338*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1412	CARD.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCTCGTACTGCTCCTGGCTC	0.572												
DNAH2	146754	broad.mit.edu	37	17	7708677	7708677	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:7708677C>T	uc002giu.1	+	59	9422	c.9408C>T	c.(9406-9408)aaC>aaT	p.N3136N	DNAH2_uc010cnm.1_Silent_p.N74N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3136	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N3136N(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCGAGGCAACGAGCCCACAT	0.498												
PRPSAP2	5636	broad.mit.edu	37	17	18833933	18833933	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:18833933C>T	uc002gup.2	+	11	1354	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PRPSAP2_uc002guo.2_Silent_p.I258I|PRPSAP2_uc010vyi.2_Silent_p.I304I|PRPSAP2_uc010vyj.2_Silent_p.I258I|PRPSAP2_uc010vyk.2_Silent_p.I295I|PRPSAP2_uc002guq.2_Silent_p.I131I	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	344					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCAGCATGATCCTTTCAGAGG	0.448												
SLC6A4	6532	broad.mit.edu	37	17	28537542	28537542	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:28537542G>A	uc002hey.4	-	10	1984	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	480					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CAAAAGTCAGGGTGACCAGGG	0.582												
SMG8	55181	broad.mit.edu	37	17	57288448	57288448	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:57288448G>A	uc002ixi.3	+	0	1078	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	346					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCAGGAGGAGGACCCAGTAGG	0.527												
ABCA5	23461	broad.mit.edu	37	17	67305454	67305454	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:67305454G>A	uc002jif.2	-	2	1636	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	140					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GGAAAAAAACGAAGTTCATAG	0.328												
RECQL5	9400	broad.mit.edu	37	17	73626864	73626864	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73626864C>G	uc010dgl.3	-	11	1848	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L	RECQL5_uc010dgk.3_Missense_Mutation_p.V520L|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	547					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.E546D(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTACCTTCACAGTCAGCCTG	0.657								Other identified genes with known or suspected DNA repair function				
GALK1	2584	broad.mit.edu	37	17	73754163	73754163	+	Missense_Mutation	SNP	C	C	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73754163C>A	uc002jpk.3	-	7	1216	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y		NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	385					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGCTCCATCGGCTGCTTGA	0.682												
OR10H3	26532	broad.mit.edu	37	19	15852470	15852470	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:15852470C>T	uc010xoq.2	+	0	268	c.268C>T	c.(268-270)Cat>Tat	p.H90Y		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCTCTTCACCCATCGTTCCAT	0.502												
CPAMD8	27151	broad.mit.edu	37	19	17017835	17017835	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:17017835G>A	uc002nfb.3	-	29	4127	c.4095C>T	c.(4093-4095)taC>taT	p.Y1365Y		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1318						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGTCAGCGCGTAGGTAGTCA	0.662												
ZNF724P	440519	broad.mit.edu	37	19	23406220	23406220	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:23406220T>C								ZNF730 (73457 upstream) : ZNF724P (387 downstream)																							CTCTCCAGTATGAATTATCTT	0.358												
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:36583666_36583668delGCA	uc002odd.2	+	18	2377_2379	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_uc002odc.2_In_Frame_Del_p.Q766del	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	766					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616												
PSG3	5669	broad.mit.edu	37	19	43373123	43373123	+	Nonsense_Mutation	SNP	A	A	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:43373123A>C	uc002ovd.1	-	3	911	c.773T>G	c.(772-774)tTa>tGa	p.L258*	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Nonsense_Mutation_p.L258*|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Nonsense_Mutation_p.L165*|PSG3_uc002ova.2_Nonsense_Mutation_p.L165*|PSG3_uc002ouz.2_Nonsense_Mutation_p.L258*|PSG3_uc002ovb.3_Nonsense_Mutation_p.L258*	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	258	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTGAAGTTTAAGACATCCTT	0.488												
MFSD2B	388931	broad.mit.edu	37	2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:24247038G>A	uc002reo.2	+	12	1401	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	463					transport	integral to membrane		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607												
VAX2	25806	broad.mit.edu	37	2	71160172	71160172	+	Silent	SNP	G	G	A	rs144443163	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:71160172G>A	uc002shh.3	+	2	743	c.711G>A	c.(709-711)gcG>gcA	p.A237A	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	237					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CGGCCTCAGCGTCCCCCCCAC	0.692												
EXOC6B	23233	broad.mit.edu	37	2	72692422	72692422	+	Missense_Mutation	SNP	T	T	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:72692422T>A	uc010fep.3	-	17	1985	c.1847A>T	c.(1846-1848)cAg>cTg	p.Q616L	EXOC6B_uc002sij.2_Missense_Mutation_p.Q616L	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	616					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTCAATCTTCTGGTTTAAGTT	0.393												
SPTLC3	55304	broad.mit.edu	37	20	13052931	13052931	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr20:13052931G>C	uc002wod.1	+	2	620	c.331G>C	c.(331-333)Gaa>Caa	p.E111Q		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	111					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCAAGACTTTGAAAATTTTTA	0.428												
KRTAP10-11	386678	broad.mit.edu	37	21	46066487	46066487	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr21:46066487G>A	uc002zfr.4	+	0	157	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	38	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCTGCTGCGCCCCGGCCCC	0.697												
CECR6	27439	broad.mit.edu	37	22	17600851	17600851	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:17600851C>T	uc002zmb.2	-	0	1363	c.1167G>A	c.(1165-1167)cgG>cgA	p.R389R	CECR6_uc002zma.2_Silent_p.R34R|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	389										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCGCGCGGTGCCGCTGGGGCT	0.736												
GNB1L	54584	broad.mit.edu	37	22	19794193	19794193	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:19794193G>C	uc002zqf.1	-	5	742	c.505C>G	c.(505-507)Cgg>Ggg	p.R169G		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	169					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TGCCACAGCCGCAGGCACATG	0.607												
CSF2RB	1439	broad.mit.edu	37	22	37325775	37325775	+	Missense_Mutation	SNP	G	G	A	rs149714683		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37325775G>A	uc003aqa.4	+	5	861	c.644G>A	c.(643-645)cGc>cAc	p.R215H	CSF2RB_uc003aqc.4_Missense_Mutation_p.R215H	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	215	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTACGGACCCGCCTGGCCCCA	0.647												
SSTR3	6753	broad.mit.edu	37	22	37603101	37603101	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37603101G>A	uc003ara.3	-	1	804	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	SSTR3_uc003arb.3_Missense_Mutation_p.R248W|SSTR3_uc021wos.1_Missense_Mutation_p.R248W	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	248					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GAGCGCCGCCGCCGCTGGCAC	0.667												
SUSD5	26032	broad.mit.edu	37	3	33194868	33194868	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:33194868T>C	uc003cfo.1	-	4	1674	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	419					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTCTTGGGCTTCTTAACTTC	0.517												
EFCAB12	90288	broad.mit.edu	37	3	129140636	129140636	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:129140636C>T	uc003emg.3	-	1	223	c.60G>A	c.(58-60)ccG>ccA	p.P20P		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						GAGTCTTAGACGGGCAGAGTC	0.512												
ARHGEF26	26084	broad.mit.edu	37	3	153867229	153867229	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:153867229C>G	uc021xgc.1	+	4	1605	c.1321C>G	c.(1321-1323)Caa>Gaa	p.Q441E	ARHGEF26_uc011bog.1_Missense_Mutation_p.Q441E|ARHGEF26_uc011boh.1_Missense_Mutation_p.Q441E	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	441	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGAAAGAGACAAGAGGTATG	0.393												
UGDH	7358	broad.mit.edu	37	4	39515752	39515753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:39515752_39515753insA	uc003guk.2	-	2	537_538	c.214_215insT	c.(214-216)tctfs	p.S72fs	UGDH_uc011byp.2_5'UTR|UGDH_uc003gul.2_Frame_Shift_Ins_p.S72fs	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	72					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.S72fs*18(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	AATATTGGTAGAAAAAAAAAGA	0.297												
DCHS2	54798	broad.mit.edu	37	4	155219800	155219800	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155219800C>G	uc003inw.2	-	17	4301	c.4301G>C	c.(4300-4302)cGt>cCt	p.R1434P		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1434	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1434S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393												
DCHS2	54798	broad.mit.edu	37	4	155242236	155242236	+	Silent	SNP	A	A	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155242236A>G	uc003inw.2	-	13	2950	c.2950T>C	c.(2950-2952)Tta>Cta	p.L984L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	984	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTAAAATGTAACTTTCCATTA	0.328												
HEATR7B2	133558	broad.mit.edu	37	5	41058241	41058241	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:41058241C>T	uc003jmj.4	-	6	1170	c.680G>A	c.(679-681)cGt>cAt	p.R227H	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.R227H	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	227							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GGCGTATCCACGGAAGTCTTC	0.517												
MAST4	375449	broad.mit.edu	37	5	66460510	66460510	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:66460510G>A	uc021xzk.1	+	28	5811	c.5503G>A	c.(5503-5505)Gtg>Atg	p.V1835M	MAST4_uc003jut.2_Missense_Mutation_p.V1646M|MAST4_uc003juw.3_Missense_Mutation_p.V1574M|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1838						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAGTGGTGACGTGAGGGCCTC	0.562												
TRPC7	57113	broad.mit.edu	37	5	135692416	135692416	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:135692416G>A	uc003lbn.2	-	1	882	c.660C>T	c.(658-660)aaC>aaT	p.N220N	TRPC7_uc010jef.2_Silent_p.N211N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.N220N|TRPC7_uc010jei.2_Silent_p.N220N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	220					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.N220N(3)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTGTAGGCGTTCATGCGCG	0.607												
LRRTM2	26045	broad.mit.edu	37	5	138209080	138209081	+	Frame_Shift_Ins	INS	-	-	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:138209080_138209081insT	uc011cyz.1	-	1	1626_1627	c.1169_1170insA	c.(1168-1170)tacfs	p.Y390fs	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Frame_Shift_Ins_p.Y256fs|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	390						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCCACATGGTAACTTGATGA	0.431												
PCDHAC2	9752	broad.mit.edu	37	5	140229393	140229393	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:140229393C>T	uc003lhu.2	+	0	2037	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.T438M	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	452	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCCACGGCCAGGGTG	0.657												
RUNX2	860	broad.mit.edu	37	6	45390685	45390685	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr6:45390685G>A	uc011dvx.2	+	2	624	c.414G>A	c.(412-414)gtG>gtA	p.V138V	RUNX2_uc011dvy.2_Silent_p.V138V|RUNX2_uc003oxt.3_Silent_p.V124V	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	138	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCTGCCCGTGGCCTTCAAGG	0.721												
DBNL	28988	broad.mit.edu	37	7	44100419	44100419	+	Silent	SNP	G	G	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:44100419G>T	uc003tjp.4	+	12	1295	c.1197G>T	c.(1195-1197)acG>acT	p.T399T	DBNL_uc003tjo.4_Silent_p.T400T|DBNL_uc003tjq.4_Silent_p.T408T|DBNL_uc011kbm.2_Silent_p.T375T|DBNL_uc011kbo.2_Silent_p.T300T|DBNL_uc011kbp.2_Silent_p.T351T|DBNL_uc011kbq.2_Silent_p.T324T|DBNL_uc011kbn.2_Silent_p.T296T|DBNL_uc011kbr.2_Silent_p.T348T|DBNL_uc011kbs.2_Silent_p.T304T	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.	399	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACCTCATCACGGGCATCGAGG	0.587												
POM121L12	285877	broad.mit.edu	37	7	53103950	53103950	+	Silent	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:53103950T>C	uc003tpz.3	+	0	602	c.586T>C	c.(586-588)Ttg>Ctg	p.L196L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	196								p.P195P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGACGGGCCGTTGTGGTTCGA	0.677												
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
ADAM22	53616	broad.mit.edu	37	7	87760639	87760639	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:87760639C>T	uc003ujn.3	+	10	1096	c.881C>T	c.(880-882)gCg>gTg	p.A294V	ADAM22_uc003ujj.2_Missense_Mutation_p.A294V|ADAM22_uc003ujk.2_Missense_Mutation_p.A294V|ADAM22_uc003ujl.2_Missense_Mutation_p.A294V|ADAM22_uc003ujm.3_Missense_Mutation_p.A294V|ADAM22_uc003ujo.3_Missense_Mutation_p.A294V|ADAM22_uc003ujp.1_Missense_Mutation_p.A346V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	294	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCTGGGCGACTGACAAC	0.358												
EPHB4	2050	broad.mit.edu	37	7	100404060	100404060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:100404060C>T	uc003uwn.1	-	13	2957	c.2466G>A	c.(2464-2466)tgG>tgA	p.W822*	EPHB4_uc003uwm.1_Nonsense_Mutation_p.W729*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W822*	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	822	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTCATGTCCCAGTACGGCC	0.562												
MUC17	140453	broad.mit.edu	37	7	100684307	100684308	+	In_Frame_Ins	INS	-	-	CTC			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:100684307_100684308insCTC	uc003uxp.1	+	2	9663_9664	c.9610_9611insCTC	c.(9610-9612)tct>tCTCct	p.3204_3205insP	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3204	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCCACTTCATCTACAACTGCT	0.500												
TAF2	6873	broad.mit.edu	37	8	120774701	120774701	+	Missense_Mutation	SNP	T	T	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:120774701T>G	uc003you.3	-	18	2782	c.2512A>C	c.(2512-2514)Aat>Cat	p.N838H		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	838					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTCCATATTCAAAAATCTG	0.333												
FLJ43860	389690	broad.mit.edu	37	8	142505515	142505515	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:142505515T>C	uc003ywi.2	-	2	412	c.331A>G	c.(331-333)Aag>Gag	p.K111E	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	111							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTCTTGATCTTCTTGATGATG	0.527												
PLEC	5339	broad.mit.edu	37	8	144993831	144993831	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:144993831C>T	uc003zaf.1	-	31	10739	c.10569G>A	c.(10567-10569)gcG>gcA	p.A3523A	PLEC_uc003zab.1_Silent_p.A3386A|PLEC_uc003zac.1_Silent_p.A3390A|PLEC_uc003zad.2_Silent_p.A3386A|PLEC_uc003zae.1_Silent_p.A3354A|PLEC_uc003zag.1_Silent_p.A3364A|PLEC_uc003zah.2_Silent_p.A3372A|PLEC_uc003zaj.2_Silent_p.A3413A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3523	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGCAGGAGCGCAGCCGTTG	0.692												
FBXL6	26233	broad.mit.edu	37	8	145581939	145581939	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:145581939G>A	uc003zcb.3	-	0	245	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_Missense_Mutation_p.P57S|FBXL6_uc010mfx.3_5'UTR|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	57	F-box.				proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			tgtgcgcggggccgggcgggg	0.791												
DMRT3	58524	broad.mit.edu	37	9	977245	977245	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:977245A>G	uc003zgw.1	+	0	282	c.244A>G	c.(244-246)Agc>Ggc	p.S82G		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	82					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGCCAACGAGAGCTTGGAGAG	0.731												
CACNA1B	774	broad.mit.edu	37	9	141014620	141014620	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:141014620G>A	uc004cog.3	+	43	6173	c.6028G>A	c.(6028-6030)Gtc>Atc	p.V2010I	CACNA1B_uc022bqn.1_Missense_Mutation_p.V2010I|CACNA1B_uc004coi.3_Missense_Mutation_p.V1224I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2012					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCACAGCCCGTCACAGATGC	0.672												
EFNB1	1947	broad.mit.edu	37	X	68058542	68058542	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chrX:68058542C>G	uc004dxe.2	+	1	991	c.211C>G	c.(211-213)Cgg>Ggg	p.R71G	EFNB1_uc004dxd.4_Missense_Mutation_p.R71G	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	71					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	p.R71W(2)|p.R71Q(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGAAGCAGGGCGGCCCTATGA	0.572