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
MTOR	2475	broad.mit.edu	37	1	11217231	11217231	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:11217231A>G	uc001asd.3	-	29	4568	c.4447T>C	c.(4447-4449)Tgc>Cgc	p.C1483R		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1483	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.C1483F(2)|p.C1483Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCCTCGAGGCAGCGCATGCGG	0.527												
KIF17	57576	broad.mit.edu	37	1	21031072	21031072	+	Missense_Mutation	SNP	G	G	A	rs139912475		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:21031072G>A	uc001bdr.4	-	4	1109	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	KIF17_uc001bds.4_Missense_Mutation_p.R331W	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	331					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTCTTGGCCCGGTTGGCGTAG	0.597												
ELTD1	64123	broad.mit.edu	37	1	79412033	79412033	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:79412033C>G	uc001diq.4	-	2	407	c.251G>C	c.(250-252)tGt>tCt	p.C84S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	84	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.C84Y(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACACACATACAATAATAACT	0.363												
ABCA4	24	broad.mit.edu	37	1	94543367	94543367	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:94543367A>T	uc001dqh.3	-	10	1537	c.1433T>A	c.(1432-1434)aTc>aAc	p.I478N	ABCA4_uc010otn.1_Missense_Mutation_p.I478N	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	478					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAAGTTTAGGATGGCTTCAGC	0.493												
ATP1A2	477	broad.mit.edu	37	1	160106156	160106156	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:160106156G>C	uc001fvc.3	+	17	2691	c.2559G>C	c.(2557-2559)caG>caC	p.Q853H	ATP1A2_uc001fvb.2_Missense_Mutation_p.Q853H|ATP1A2_uc001fvd.3_Missense_Mutation_p.Q589H	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	853					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTACGGACAGATCGGTGCGC	0.577												
DUSP27	92235	broad.mit.edu	37	1	167064116	167064116	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:167064116G>A	uc001geb.1	+	0	46	c.30G>A	c.(28-30)gaG>gaA	p.E10E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	10					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGAGGAGGAGCAGGTAGTCC	0.547												
DUSP27	92235	broad.mit.edu	37	1	167095182	167095182	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:167095182C>T	uc001geb.1	+	4	830	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	272					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGCAGCTGCGGGAGCTCAA	0.582												
NLRP3	114548	broad.mit.edu	37	1	247587535	247587535	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:247587535G>T	uc001icr.3	+	4	928	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L	NLRP3_uc001ics.3_Missense_Mutation_p.V264L|NLRP3_uc001icu.3_Missense_Mutation_p.V264L|NLRP3_uc001icw.3_Missense_Mutation_p.V264L|NLRP3_uc001icv.3_Missense_Mutation_p.V264L|NLRP3_uc010pyw.2_Missense_Mutation_p.V262L|NLRP3_uc001ict.1_Missense_Mutation_p.V262L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	264	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGTCGAGAGGTGAGCCTTGT	0.537												
MBL2	4153	broad.mit.edu	37	10	54531391	54531391	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:54531391G>T	uc001jjt.3	-	0	70	c.5C>A	c.(4-6)tCc>tAc	p.S2Y		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	2					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAACAGGGACATGGTCCT	0.502												
PCDH15	65217	broad.mit.edu	37	10	55839114	55839114	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:55839114C>G	uc010qhy.1	-	17	2478	c.2083G>C	c.(2083-2085)Gct>Cct	p.A695P	PCDH15_uc010qhq.2_Missense_Mutation_p.A695P|PCDH15_uc010qhr.2_Missense_Mutation_p.A690P|PCDH15_uc021pqv.1_Missense_Mutation_p.A690P|PCDH15_uc021pqw.1_Missense_Mutation_p.A702P|PCDH15_uc010qht.2_Missense_Mutation_p.A697P|PCDH15_uc021pqx.1_Missense_Mutation_p.A690P|PCDH15_uc001jjv.1_Missense_Mutation_p.A668P|PCDH15_uc021pqy.1_Missense_Mutation_p.A690P|PCDH15_uc021pqz.1_Missense_Mutation_p.A668P|PCDH15_uc010qhv.1_Missense_Mutation_p.A690P|PCDH15_uc010qhw.1_Missense_Mutation_p.A653P|PCDH15_uc010qhx.1_Missense_Mutation_p.A619P|PCDH15_uc010qhz.1_Missense_Mutation_p.A690P|PCDH15_uc010qia.1_Missense_Mutation_p.A668P|PCDH15_uc001jju.1_Missense_Mutation_p.A690P|PCDH15_uc010qib.1_Missense_Mutation_p.A668P|PCDH15_uc001jjw.3_Missense_Mutation_p.A690P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	690	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCATCTGAAGCTGTGATGATC	0.433										HNSCC(58;0.16)		
MGMT	4255	broad.mit.edu	37	10	131506185	131506185	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:131506185C>T	uc001lkh.2	+	2	271	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	82										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GCCCCCGCTGCGGTTCTCGGA	0.602								Direct reversal of damage				
PDE3B	5140	broad.mit.edu	37	11	14853295	14853295	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:14853295G>A	uc001mln.3	+	8	2419	c.2066G>A	c.(2065-2067)gGa>gAa	p.G689E	PDE3B_uc010rcr.2_Missense_Mutation_p.G638E	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	689					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAAAGATGGGAGAGAAATCA	0.294												
HIPK3	10114	broad.mit.edu	37	11	33375092	33375092	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:33375092T>C	uc001mul.1	+	16	3896	c.3626T>C	c.(3625-3627)cTc>cCc	p.L1209P	HIPK3_uc001mum.1_Missense_Mutation_p.L1188P|HIPK3_uc009yjv.1_Missense_Mutation_p.L1188P	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	1209					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCAACAAAACTCAGCCAGTAT	0.363												
OR5AS1	219447	broad.mit.edu	37	11	55798090	55798090	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:55798090T>G	uc010riw.2	+	0	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTTAGCAACTTATCTTTCTT	0.348												
OR5M9	390162	broad.mit.edu	37	11	56229973	56229973	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:56229973G>C	uc010rjj.2	-	0	905	c.905C>G	c.(904-906)gCa>gGa	p.A302G	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CTTGGTGATTGCTTTGTTGAC	0.378												
DTX4	23220	broad.mit.edu	37	11	58949878	58949878	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:58949878A>G	uc001nns.2	+	1	1135	c.878A>G	c.(877-879)aAt>aGt	p.N293S	DTX4_uc001nnr.2_Missense_Mutation_p.N187S	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	293					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCACCTTGAATCGTACCAAC	0.612												
PCNXL3	399909	broad.mit.edu	37	11	65402835	65402835	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:65402835G>A	uc001oey.2	+	30	5100	c.5100G>A	c.(5098-5100)gcG>gcA	p.A1700A	PCNXL3_uc001oez.2_Silent_p.A587A|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1700						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCTGCTGGCGCTGCGCCATG	0.632												
CACNA1C	775	broad.mit.edu	37	12	2716205	2716205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:2716205C>T	uc009zdu.1	+	26	3638	c.3325C>T	c.(3325-3327)Cgc>Tgc	p.R1109C	CACNA1C_uc001qkc.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1089C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1086C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qka.1_Missense_Mutation_p.R624C|CACNA1C_uc001qki.1_Missense_Mutation_p.R825C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1109	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATCCAACCCCGCAGCTGGGA	0.542												
TMTC1	83857	broad.mit.edu	37	12	29669420	29669420	+	Splice_Site	SNP	C	C	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:29669420C>A	uc021qwi.1	-	15	2229	c.2170_splice	c.e15-1	p.A724_splice	TMTC1_uc001riz.3_Splice_Site_p.A373_splice|TMTC1_uc001rja.3_Splice_Site_p.A460_splice|TMTC1_uc001rjb.3_Splice_Site_p.A616_splice|TMTC1_uc001riy.3_Splice_Site_p.A69_splice	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	724						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAACCTGAGCCTACAAAACCA	0.453												
ABCD2	225	broad.mit.edu	37	12	40001468	40001468	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:40001468G>A	uc001rmb.2	-	2	1595	c.1169C>T	c.(1168-1170)aCc>aTc	p.T390I		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	390	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCGAGCAGTGGTAAAGGCTTC	0.323												
PCDH20	64881	broad.mit.edu	37	13	61985826	61985826	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr13:61985826G>A	uc001vid.4	-	1	2770	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	PCDH20_uc010thj.2_Silent_p.G802G	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	775	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGTAATGTTGCCAGTTTTAG	0.488												
CTAGE11P	647288	broad.mit.edu	37	13	75814288	75814288	+	Silent	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr13:75814288A>G	uc010ths.2	-	0	230	c.189T>C	c.(187-189)ttT>ttC	p.F63F						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		TAACCGATCTAAAACTTCTCC	0.378												
PCID2	55795	broad.mit.edu	37	13	113854813	113854813	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr13:113854813G>A	uc021rmt.1	-	1	135	c.54C>T	c.(52-54)gaC>gaT	p.D18D	PCID2_uc021rmq.1_Silent_p.D18D|PCID2_uc021rmr.1_Silent_p.D18D|PCID2_uc021rms.1_Silent_p.D18D|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	18					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCTCTGCTGTCGATGGCTT	0.418												
AHNAK2	113146	broad.mit.edu	37	14	105404844	105404844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr14:105404844C>T	uc010axc.1	-	6	17064	c.16944G>A	c.(16942-16944)tgG>tgA	p.W5648*	AHNAK2_uc021sen.1_Nonsense_Mutation_p.W1045*|AHNAK2_uc021seo.1_Nonsense_Mutation_p.W646*|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.W5548*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5648						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)			TGTTTGGAAGCCAAAACCAGA	0.478												
EIF3J	8669	broad.mit.edu	37	15	44829531	44829532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr15:44829531_44829532insT	uc001ztv.3	+	1	180_181	c.53_54insT	c.(52-54)gctfs	p.A18fs	LOC645212_uc021skh.1_5'Flank|LOC645212_uc001ztu.3_5'Flank|EIF3J_uc010ueg.2_Frame_Shift_Ins_p.A18fs	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	18	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GACGCCGACGCTTTCTCCGTGG	0.708												
CEP152	22995	broad.mit.edu	37	15	49054660	49054660	+	Silent	SNP	T	T	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr15:49054660T>G	uc001zwz.3	-	17	2683	c.2490A>C	c.(2488-2490)atA>atC	p.I830I	CEP152_uc001zwy.3_Silent_p.I830I|CEP152_uc001zxa.2_Silent_p.I737I	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	830					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCTTGATGGCTATGTCCTTCT	0.358												
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652												
HYDIN	54768	broad.mit.edu	37	16	70913364	70913364	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr16:70913364C>T	uc002ezr.3	-	61	10541	c.10390G>A	c.(10390-10392)Gtg>Atg	p.V3464M		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3465										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTCAAACACGAGGCCTCGG	0.567												
SLC4A1	6521	broad.mit.edu	37	17	42330498	42330498	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:42330498C>T	uc002igf.4	-	16	2448	c.2299G>A	c.(2299-2301)Gct>Act	p.A767T	SLC4A1_uc021tyc.1_Missense_Mutation_p.A401T	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	767	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAAGCACAGCGACCAGGAGT	0.637												
FBF1	85302	broad.mit.edu	37	17	73914257	73914257	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:73914257G>A	uc002jqc.3	-	19	2461	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.A720A|FBF1_uc002jqd.1_Silent_p.A730A|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.A40A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	729										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGTGGGAGGTGGCACTGGTGG	0.662												
AANAT	15	broad.mit.edu	37	17	74465812	74465812	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:74465812C>T	uc021udg.1	+	6	1526	c.519C>T	c.(517-519)cgC>cgT	p.R173R	AANAT_uc002jro.3_Silent_p.R128R|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	128	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CCGTGCACCGCGCCTTCCGGC	0.701												
EPB41L3	23136	broad.mit.edu	37	18	5489008	5489008	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:5489008G>A	uc002kmt.1	-	1	261	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	EPB41L3_uc010wzh.1_Missense_Mutation_p.R59W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R59W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.R81W|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	59					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACCTCCCTCCGCACCGGGGTG	0.672												
LAMA3	3909	broad.mit.edu	37	18	21338466	21338466	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:21338466G>A	uc002kuq.3	+	6	1140	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	LAMA3_uc010dlv.2_Missense_Mutation_p.E352K|LAMA3_uc002kur.3_Missense_Mutation_p.E352K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	352	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGAGCCACGAGTGTGAAGG	0.647												
TAF4B	6875	broad.mit.edu	37	18	23873445	23873445	+	Silent	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:23873445A>G	uc002kvt.4	+	8	2286	c.1797A>G	c.(1795-1797)gcA>gcG	p.A599A	TAF4B_uc002kvu.4_Silent_p.A594A|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	594					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CACTTCAAGCATCTCCTACTC	0.269												
BEST2	54831	broad.mit.edu	37	19	12864093	12864093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:12864093C>T	uc002mux.3	+	1	172	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	58					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GACCGAAGGGCAGAAGCGCTA	0.567												
OR7A10	390892	broad.mit.edu	37	19	14951796	14951796	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:14951796C>A	uc002mzx.1	-	0	894	c.894G>T	c.(892-894)aaG>aaT	p.K298N		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TCATAGCACCCTTTATGTGTT	0.468												
MAP1S	55201	broad.mit.edu	37	19	17838511	17838511	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:17838511G>A	uc002nhe.1	+	4	2327	c.2318G>A	c.(2317-2319)cGg>cAg	p.R773Q	MAP1S_uc010eaz.2_Missense_Mutation_p.R386Q|MAP1S_uc010xpv.1_Missense_Mutation_p.R747Q	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	773	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.R773R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCACAGGAACGGGCAGGTGGG	0.687												
CEACAM5	1048	broad.mit.edu	37	19	42218934	42218934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:42218934G>A	uc002orl.3	+	2	590	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	CEACAM5_uc010ehz.1_Missense_Mutation_p.V157M|CEACAM5_uc002orj.1_Missense_Mutation_p.V157M	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	157	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTCCAAACCCGTGGAGGACAA	0.562												
FUT1	2523	broad.mit.edu	37	19	49253828	49253828	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:49253828G>A	uc002pkk.3	-	3	1686	c.711C>T	c.(709-711)ggC>ggT	p.G237G	FUT1_uc021uwy.1_Silent_p.G237G	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	237					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCGCTGTCGCCCACCACAC	0.657												
NLRP12	91662	broad.mit.edu	37	19	54314476	54314476	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:54314476C>T	uc002qcj.4	-	2	657	c.437G>A	c.(436-438)cGc>cAc	p.R146H	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R146H|NLRP12_uc002qci.4_Missense_Mutation_p.R146H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R146H	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	146					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R146L(2)|p.R146H(2)|p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCTAGGCGCGCATTGCG	0.567												
PPP6R1	22870	broad.mit.edu	37	19	55742009	55742009	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:55742009G>T	uc002qjv.3	-	21	2883	c.2800C>A	c.(2800-2802)Ccg>Acg	p.P934T	TMEM86B_uc002qjt.3_5'Flank|TMEM86B_uc002qju.3_5'Flank|PPP6R1_uc002qjw.4_Missense_Mutation_p.P872T	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	872					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						GGCCCTTCCGGGGCAGAGCCA	0.677												
SLC9A4	389015	broad.mit.edu	37	2	103095456	103095456	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:103095456G>A	uc002tbz.4	+	1	872	c.415G>A	c.(415-417)Gtt>Att	p.V139I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	139					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCACCCATCGTTCTGGAGGG	0.617												
ANAPC1	64682	broad.mit.edu	37	2	112541977	112541977	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:112541977C>T	uc002thi.3	-	41	5165	c.4918_splice	c.e41-1	p.G1640_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1640					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CACTGAGTGCCCTTTACAAAT	0.458												
TTN	7273	broad.mit.edu	37	2	179542530	179542530	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:179542530A>G	uc021vsy.1	-	142	30602	c.30377T>C	c.(30376-30378)gTt>gCt	p.V10126A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6787A|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11053	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGGTAGAACTTCCTCTTC	0.448												
ALPI	248	broad.mit.edu	37	2	233323014	233323014	+	Missense_Mutation	SNP	C	C	T	rs146257849	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:233323014C>T	uc002vst.4	+	8	1156	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	ALPI_uc002vsu.4_Missense_Mutation_p.A271V	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	360					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATTGAGAGGGCGGGCCAGCTC	0.627												
PDCD1	5133	broad.mit.edu	37	2	242800933	242800933	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:242800933G>A	uc002wcq.4	-	0	126	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	20					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CATCCTGGCCGCCAGCCCAGT	0.677												
C20orf196	149840	broad.mit.edu	37	20	5843987	5843987	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:5843987G>T	uc002wmf.3	+	2	583	c.496G>T	c.(496-498)Gac>Tac	p.D166Y		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.	166										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCATTCCAGGGACACCCACTT	0.512												
DLGAP4	22839	broad.mit.edu	37	20	35060659	35060659	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:35060659G>A	uc002xff.3	+	2	974	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	DLGAP4_uc010zvp.2_Missense_Mutation_p.R180Q	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	180					cell-cell signaling	membrane	protein binding	p.R180W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGCAAGGGCCGGAGGGCCAAA	0.647												
NFATC2	4773	broad.mit.edu	37	20	50133367	50133367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:50133367G>A	uc002xwd.3	-	2	1508	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	NFATC2_uc002xwc.3_Nonsense_Mutation_p.R430*|NFATC2_uc010zyv.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyw.2_Nonsense_Mutation_p.R211*|NFATC2_uc002xwe.3_Nonsense_Mutation_p.R410*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.R410*|NFATC2_uc010zyy.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyz.2_Nonsense_Mutation_p.R211*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	430	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACAGCCCCTCGGCTGCCTTCT	0.557												
COL20A1	57642	broad.mit.edu	37	20	61943349	61943349	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:61943349G>A	uc011aau.2	+	13	1845	c.1745G>A	c.(1744-1746)aGg>aAg	p.R582K	COL20A1_uc011aav.2_Missense_Mutation_p.R403K	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	582	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGCCCCGAGGCCTGTGCGC	0.682												
KRTAP10-11	386678	broad.mit.edu	37	21	46066409	46066409	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr21:46066409G>A	uc002zfr.4	+	0	79	c.34G>A	c.(34-36)Gct>Act	p.A12T	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.	12						keratin filament		p.S11S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CTGCTCCAGCGCTTACTCCGA	0.667												
SLC19A1	6573	broad.mit.edu	37	21	46950811	46950811	+	Missense_Mutation	SNP	C	C	T	rs142899279		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr21:46950811C>T	uc002zhl.2	-	3	1177	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	SLC19A1_uc010gpy.1_Missense_Mutation_p.V342I|SLC19A1_uc011aft.2_Missense_Mutation_p.V302I|SLC19A1_uc002zhm.2_Missense_Mutation_p.V342I|SLC19A1_uc010gpz.2_Missense_Mutation_p.V221I	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	342					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTGGCCGTGACGCCCGCGATG	0.697												
CCT8L2	150160	broad.mit.edu	37	22	17073274	17073274	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:17073274C>T	uc002zlp.1	-	0	427	c.167G>A	c.(166-168)cGg>cAg	p.R56Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	56					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.G55S(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAACTTCTGCCGGCCGTGGGG	0.642												
GNB1L	54584	broad.mit.edu	37	22	19799872	19799872	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:19799872C>T	uc002zqf.1	-	4	590	c.353G>A	c.(352-354)aGc>aAc	p.S118N		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	118					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		p.R117W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CAGGATGCTGCTCCGGCAGAA	0.692												
BPIFC	254240	broad.mit.edu	37	22	32833790	32833790	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:32833790C>T	uc003amn.2	-	6	704	c.704G>A	c.(703-705)aGt>aAt	p.S235N	BPIFC_uc010gwo.2_Missense_Mutation_p.S49N|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	235						extracellular region	lipopolysaccharide binding|phospholipid binding										TTCTGGAGAACTGATTAGGGA	0.353												
SYN3	8224	broad.mit.edu	37	22	33402361	33402361	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:33402361A>G	uc003amx.3	-	0	449	c.287T>C	c.(286-288)gTg>gCg	p.V96A	SYN3_uc003amy.3_Missense_Mutation_p.V96A|SYN3_uc003amz.3_Missense_Mutation_p.V96A	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	96	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ATCATCGATCACCAACAGGAT	0.547												
ATP2B2	491	broad.mit.edu	37	3	10413514	10413514	+	Silent	SNP	G	G	A	rs148841263	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:10413514G>A	uc003bvt.3	-	11	2077	c.1638C>T	c.(1636-1638)agC>agT	p.S546S	ATP2B2_uc003bvv.3_Silent_p.S501S|ATP2B2_uc003bvw.3_Silent_p.S501S|ATP2B2_uc010hdo.3_Silent_p.S251S	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	546					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGGTGTAGGCGCTGTTGATGG	0.547												
NR2C2	7182	broad.mit.edu	37	3	15070193	15070193	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:15070193A>G	uc003bzj.4	+	7	1116	c.899A>G	c.(898-900)cAg>cGg	p.Q300R	NR2C2_uc003bzi.3_Missense_Mutation_p.Q319R	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	300					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.V299A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGAAATCCAGCCAGAGGAC	0.542												
LRRC3B	116135	broad.mit.edu	37	3	26751737	26751737	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:26751737G>A	uc003cdp.3	+	1	1163	c.574G>A	c.(574-576)Gct>Act	p.A192T	LRRC3B_uc003cdq.3_Missense_Mutation_p.A192T|LRRC3B_uc021wuj.1_Missense_Mutation_p.A192T	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	192	LRRCT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGCCAACGACGCTGACCTTTG	0.468												
MST1R	4486	broad.mit.edu	37	3	49940194	49940194	+	Silent	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:49940194A>G	uc003cxy.4	-	0	1113	c.849T>C	c.(847-849)ctT>ctC	p.L283L	MST1R_uc011bdc.2_Silent_p.L283L|MST1R_uc011bdd.2_Silent_p.L283L|MST1R_uc011bde.1_Silent_p.L283L|MST1R_uc011bdf.1_Silent_p.L283L|MST1R_uc011bdg.2_Silent_p.L283L	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	283	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAGTGGCGCTAAGCCGTGCCA	0.622												
ITIH4	3700	broad.mit.edu	37	3	52851043	52851043	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:52851043C>T	uc011bem.2	-	20	2371	c.2343G>A	c.(2341-2343)gaG>gaA	p.E781E	ITIH4_uc011bel.2_Silent_p.E490E|ITIH4_uc003dfy.3_Silent_p.E571E|ITIH4_uc003dfz.3_Silent_p.E776E|ITIH4_uc011ben.2_Silent_p.E746E	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	776					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCCAGCCTTCTCCCTCTCAT	0.592												
ARL6	84100	broad.mit.edu	37	3	97506846	97506846	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:97506846G>A	uc003drv.3	+	6	675	c.362G>A	c.(361-363)cGt>cAt	p.R121H	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.R121H|ARL6_uc010hoy.3_Missense_Mutation_p.R121H	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	121					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ATTAAACACCGTCGAATTCCA	0.323												
OR5K1	26339	broad.mit.edu	37	3	98189167	98189167	+	Silent	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:98189167A>G	uc003dsm.3	+	0	747	c.747A>G	c.(745-747)tcA>tcG	p.S249S		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S249L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTCAGTTTCATTATTCTATG	0.333												
ST3GAL6	10402	broad.mit.edu	37	3	98507190	98507190	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:98507190G>C	uc003dtc.3	+	8	1106	c.639G>C	c.(637-639)aaG>aaC	p.K213N	ST3GAL6_uc003dsy.3_Missense_Mutation_p.K127N|ST3GAL6_uc003dsz.3_Missense_Mutation_p.K213N|ST3GAL6_uc003dta.3_Missense_Mutation_p.K95N|ST3GAL6_uc010hpd.3_Missense_Mutation_p.K266N	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	213					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GTTTTTGGAAGAAACCAGCCT	0.323												
MYLK	4638	broad.mit.edu	37	3	123428617	123428617	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:123428617G>C	uc003ego.3	-	13	2210	c.1928C>G	c.(1927-1929)aCt>aGt	p.T643S	MYLK_uc011bjw.2_Missense_Mutation_p.T643S|MYLK_uc003egp.3_Missense_Mutation_p.T574S|MYLK_uc003egq.3_Missense_Mutation_p.T643S|MYLK_uc003egr.3_Missense_Mutation_p.T574S|MYLK_uc003egs.3_Missense_Mutation_p.T467S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	643	Ig-like C2-type 5.				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)		CACTTGGACAGTCATAGTGAC	0.532												
TRIM42	287015	broad.mit.edu	37	3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	rs116143762	by1000genomes	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:140397090G>A	uc003eto.2	+	0	225	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	7	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCTATGTGCGTTTGCTGTCC	0.507												
ZIC4	84107	broad.mit.edu	37	3	147114065	147114065	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:147114065C>T	uc011bno.2	-	2	598	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	ZIC4_uc003ewc.2_Missense_Mutation_p.A18T|ZIC4_uc021xff.1_Missense_Mutation_p.A126T|ZIC4_uc003ewd.2_Missense_Mutation_p.A88T|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	88						nucleus	DNA binding|zinc ion binding	p.A88S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGCCAGGGCGTCGCTGCGG	0.701												
VPS8	23355	broad.mit.edu	37	3	184571960	184571960	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:184571960G>A	uc021xik.1	+	12	1123	c.1035_splice	c.e12+1	p.R345_splice	VPS8_uc003fpb.1_Splice_Site_p.R343_splice|VPS8_uc010hyd.1_Splice_Site_p.R343_splice	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	345							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CCCTATGGCCGGGTGAGTACG	0.413												
SDHAP2	727956	broad.mit.edu	37	3	195410687	195410687	+	Missense_Mutation	SNP	T	T	A	rs6583274	by1000genomes	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:195410687T>A	uc003fuw.3	+	12	1778	c.584T>A	c.(583-585)gTg>gAg	p.V195E	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CCCTTTGAGGTGCACTGGAGG	0.567												
MUC4	4585	broad.mit.edu	37	3	195505849	195505849	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:195505849G>A	uc021xjp.1	-	1	12758	c.12602C>T	c.(12601-12603)gCa>gTa	p.A4201V	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.592												
TLR6	10333	broad.mit.edu	37	4	38830788	38830788	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:38830788C>T	uc010ifg.2	-	1	428	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TLR6_uc003gtm.3_Missense_Mutation_p.E103K	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	103					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAAATATTCTAAATCCTGG	0.363												
PRDM8	56978	broad.mit.edu	37	4	81123201	81123201	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:81123201C>T	uc010ijo.3	+	7	1424	c.585C>T	c.(583-585)ggC>ggT	p.G195G	PRDM8_uc003hmb.4_Silent_p.G195G|PRDM8_uc003hmc.4_Silent_p.G195G	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	195	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						AACAAggcggcggcgtgggca	0.617											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HHIP	64399	broad.mit.edu	37	4	145580881	145580881	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:145580881G>A	uc003ijs.2	+	3	1402	c.722G>A	c.(721-723)cGt>cAt	p.R241H	HHIP_uc003ijr.2_Missense_Mutation_p.R241H	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	241						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCTCGCAACGTCTCTTCATT	0.453												
HCN1	348980	broad.mit.edu	37	5	45262309	45262309	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:45262309T>A	uc003jok.3	-	7	2412	c.2387A>T	c.(2386-2388)gAg>gTg	p.E796V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	796						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTGGACACCTCATGGGGCAG	0.632												
PJA2	9867	broad.mit.edu	37	5	108680493	108680493	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:108680493C>A	uc003kos.4	-	7	2012	c.1792G>T	c.(1792-1794)Gca>Tca	p.A598S		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	598	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACATCCACTGCAAGAGACTCT	0.408												
GNPDA1	10007	broad.mit.edu	37	5	141385836	141385838	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:141385836_141385838delGAA	uc003lmf.4	-	2	1039_1041	c.280_282delTTC	c.(280-282)ttcdel	p.F94del	GNPDA1_uc003lmg.4_In_Frame_Del_p.F94del|GNPDA1_uc010jgh.3_In_Frame_Del_p.F94del|GNPDA1_uc003lmh.4_In_Frame_Del_p.F60del	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	94					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTGCTTGAAGAAGTTGTTC	0.527												
CPEB4	80315	broad.mit.edu	37	5	173317554	173317554	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:173317554delA	uc003mcs.4	+	0	2224	c.818delA	c.(817-819)catfs	p.H273fs	CPEB4_uc010jju.2_Frame_Shift_Del_p.H273fs|CPEB4_uc010jjv.3_Frame_Shift_Del_p.H273fs|CPEB4_uc011dfg.2_Frame_Shift_Del_p.H273fs|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	273							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGCCTCATTTGGCGAAT	0.557												
PRSS16	10279	broad.mit.edu	37	6	27220721	27220721	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:27220721C>T	uc003nja.3	+	8	1158	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.F124F|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.F158F|PRSS16_uc010jqr.1_Silent_p.F132F|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	381					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.F381F(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTACCGAGTTCGGCTTCTGTA	0.507												
Unknown	653639	broad.mit.edu	37	6	33333916	33333916	+	Missense_Mutation	SNP	G	G	T	rs116406518	by1000genomes	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:33333916G>T								DAXX (43123 upstream) : KIFC1 (25397 downstream)																							TGTGCCCTGTGTCTCCAAGTC	0.562												
UHRF1BP1	54887	broad.mit.edu	37	6	34838669	34838669	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:34838669C>T	uc003oju.4	+	17	3991	c.3757C>T	c.(3757-3759)Cac>Tac	p.H1253Y	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1253										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAAGACTGGCCACATCAGGCC	0.498												
EEF1A1	1915	broad.mit.edu	37	6	74227627	74227627	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:74227627G>A	uc003phi.3	-	6	2287	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	EEF1A1_uc003phj.3_Missense_Mutation_p.T432I|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	432						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CACCGCAACTGTCTGTCTCAT	0.403											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
TMEM30A	55754	broad.mit.edu	37	6	75968538	75968538	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:75968538G>C	uc003phw.2	-	5	1128	c.850C>G	c.(850-852)Cca>Gca	p.P284A	TMEM30A_uc003phx.2_Missense_Mutation_p.P248A	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	284						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTAATGTTGGATGTAAATCA	0.388												
TTK	7272	broad.mit.edu	37	6	80746263	80746263	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:80746263G>C	uc003pjc.3	+	16	2107	c.1996G>C	c.(1996-1998)Ggg>Cgg	p.G666R	TTK_uc003pjb.4_Missense_Mutation_p.G665R	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	666	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATTGATTTTGGGATTGCAAA	0.323												
MYB	4602	broad.mit.edu	37	6	135514998	135514998	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:135514998C>T	uc003qfh.3	+	6	984	c.785C>T	c.(784-786)cCt>cTt	p.P262L	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.P262L|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Missense_Mutation_p.P74L|MYB_uc010kgi.3_Missense_Mutation_p.P262L|MYB_uc003qfq.3_Missense_Mutation_p.P262L|MYB_uc010kgj.3_Missense_Mutation_p.P262L|MYB_uc003qfo.3_Missense_Mutation_p.P262L|MYB_uc003qfu.3_Missense_Mutation_p.P262L|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.P262L|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.P262L|MYB_uc003qgd.1_Missense_Mutation_p.P74L|MYB_uc003qge.1_5'Flank	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	262					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTTCCATACCCTGTAGCGTTA	0.453			T	NFIB	adenoid cystic carcinoma							
EGFR	1956	broad.mit.edu	37	7	55221822	55221823	+	Missense_Mutation	DNP	CC	CC	TT	rs149840192		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:55221822_55221823CC>TT	uc003tqk.3	+	6	1112_1113	c.866_867CC>TT	c.(865-867)gcc>gTT	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					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.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		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)	AGCTTTGGTGCCACCTGCGTGA	0.594		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
GPR85	54329	broad.mit.edu	37	7	112724771	112724771	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:112724771C>T	uc010ljv.2	-	1	523	c.6G>A	c.(4-6)gcG>gcA	p.A2A	GPR85_uc003vgp.1_Silent_p.A2A|GPR85_uc003vgq.2_Silent_p.A2A|GPR85_uc010ljw.1_Silent_p.A2A|GPR85_uc022akd.1_Silent_p.A2A	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	2						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A2V(1)|p.A2G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTATAGTTCGCCATAGATG	0.403												
DENND2A	27147	broad.mit.edu	37	7	140267052	140267052	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:140267052T>C	uc010lnk.3	-	8	2133	c.1613A>G	c.(1612-1614)aAc>aGc	p.N538S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.N538S|DENND2A_uc003vvw.3_Missense_Mutation_p.N538S|DENND2A_uc003vvx.3_Missense_Mutation_p.N538S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	538										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGACTTCACGTTGACCAGGCG	0.567												
GBX1	2636	broad.mit.edu	37	7	150845924	150845924	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:150845924A>T	uc011kvg.2	-	1	1076	c.844T>A	c.(844-846)Tgc>Agc	p.C282S		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	282						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTTCTTGCAATGAAATTCC	0.557												
RPS20	6224	broad.mit.edu	37	8	56985787	56985787	+	Silent	SNP	A	A	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:56985787A>T	uc003xsm.2	-	3	420	c.222T>A	c.(220-222)tcT>tcA	p.S74S	RPS20_uc003xsn.2_Silent_p.S74S	NM_001146227	NP_001139699	P60866	RS20_HUMAN	Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA.	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CCCACGTCTTAGAACCTTCAC	0.388												
ARFGEF1	10565	broad.mit.edu	37	8	68140324	68140327	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:68140324_68140327delTAAT	uc003xxo.2	-	24	3852_3855	c.3462_3465delATTA	c.(3460-3465)gaattafs	p.E1154fs	ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.E608fs|ARFGEF1_uc003xxn.2_Frame_Shift_Del_p.E137fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1154					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCGTGGAAAGTAATTCATCCATAG	0.343												
EIF2C2	27161	broad.mit.edu	37	8	141570507	141570507	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:141570507C>T	uc003yvn.3	-	4	662	c.621G>A	c.(619-621)cgG>cgA	p.R207R	EIF2C2_uc010meo.3_Silent_p.R207R|EIF2C2_uc010men.3_Silent_p.R130R	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	207					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			AGAGAGAAGGCCGGACGGACT	0.622												
IFNA10	3446	broad.mit.edu	37	9	21206995	21206995	+	Silent	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:21206995A>G	uc003zoq.1	-	0	148	c.102T>C	c.(100-102)aaT>aaC	p.N34N	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	34					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		AGGCCCTCCTATTACCCAGGC	0.512												
KIAA0368	23392	broad.mit.edu	37	9	114188086	114188086	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:114188086C>T	uc004bfe.1	-	11	1607	c.1607G>A	c.(1606-1608)gGt>gAt	p.G536D	KIAA0368_uc010muc.1_Missense_Mutation_p.G358D	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGTATTTGTACCAAAAAGTCC	0.254												
CDK5RAP2	55755	broad.mit.edu	37	9	123156840	123156840	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:123156840A>C	uc004bkf.3	-	35	5709	c.5528T>G	c.(5527-5529)aTg>aGg	p.M1843R	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.M852R|CDK5RAP2_uc004bke.3_Missense_Mutation_p.M1128R|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.M1764R|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lya.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M1613R	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1843	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAAAAGCTTCATGGTGTTTTG	0.428												
OR1J1	347168	broad.mit.edu	37	9	125239745	125239745	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:125239745G>A	uc011lyu.2	-	0	461	c.461C>T	c.(460-462)gCg>gTg	p.A154V	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGAGCACACGCACAAGCGAT	0.542												
PCDH11Y	83259	broad.mit.edu	37	Y	5605524	5605524	+	Silent	SNP	C	C	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chrY:5605524C>A	uc004fqo.3	+	4	4298	c.3564C>A	c.(3562-3564)ctC>ctA	p.L1188L	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1188					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						CCATTGTTCTCTGCCACAGCC	0.582												
