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
MST1P9	11223	broad.mit.edu	37	1	17084961	17084961	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:17084961C>T	uc010ock.2	-	11	1514	c.1514_splice	c.e11+1	p.R505_splice	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Splice_Site_p.R79_splice					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGTGCCTCACCGATTCCGCAA	0.622												
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:53692748A>G	uc001cvf.2	-	4	572	c.410T>C	c.(409-411)aTt>aCt	p.I137T	MAGOH_uc010ont.2_Missense_Mutation_p.I100T	NM_002370	NP_002361	P61326	MGN_HUMAN	Homo sapiens mago-nashi homolog, proliferation-associated (Drosophila) (MAGOH), mRNA.	137					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	p.I137T(2)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378												
VPS72	6944	broad.mit.edu	37	1	151149180	151149180	+	Silent	SNP	A	A	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:151149180A>T	uc001exe.1	-	5	1078	c.1035T>A	c.(1033-1035)ccT>ccA	p.P345P	TMOD4_uc001exd.3_5'Flank|TMOD4_uc001exc.4_5'Flank|TMOD4_uc010pct.2_5'Flank	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	345	Poly-Pro.|Pro-rich.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGGCTCAGGAGGTGGCGGGC	0.572												
GON4L	55249	broad.mit.edu	37	1	155646478	155646478	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:155646478A>G	uc010pgi.2	-	3	791	c.599T>C	c.(598-600)tTt>tCt	p.F200S	GON4L_uc021paz.1_Missense_Mutation_p.F62S|GON4L_uc010pgg.2_5'UTR|GON4L_uc010pgh.2_Missense_Mutation_p.F51S|GON4L_uc009wqt.3_Missense_Mutation_p.F51S|GON4L_uc001flh.3_Missense_Mutation_p.F200S|GON4L_uc001fll.3_Missense_Mutation_p.F62S|GON4L_uc001flk.3_Missense_Mutation_p.F51S|GON4L_uc001flm.3_Missense_Mutation_p.F51S|GON4L_uc009wqu.3_5'UTR|GON4L_uc009wqv.3_5'UTR|GON4L_uc009wqw.3_Missense_Mutation_p.F51S|GON4L_uc001flj.3_Missense_Mutation_p.F62S|GON4L_uc001fli.3_Missense_Mutation_p.F62S|GON4L_uc001flo.3_5'UTR|GON4L_uc001fln.3_Missense_Mutation_p.F128S|GON4L_uc010pgj.2_Missense_Mutation_p.F128S|GON4L_uc001flp.3_Missense_Mutation_p.F62S|GON4L_uc009wqx.3_Missense_Mutation_p.F200S|GON4L_uc010pgk.2_Missense_Mutation_p.F200S	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	651					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGCTGTTCAAATAGTTCCTT	0.438												
PEAR1	375033	broad.mit.edu	37	1	156875138	156875138	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:156875138C>T	uc001fqj.1	+	3	345	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	77	EMI.					integral to membrane		p.R77S(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACCGTGTACCGTCAGGTGGT	0.657												
CD5L	922	broad.mit.edu	37	1	157804444	157804444	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:157804444G>A	uc001frk.4	-	3	614	c.471C>T	c.(469-471)aaC>aaT	p.N157N		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	157	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.Q156H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TATACCACTGGTTCTGGTGCT	0.622												
OR4C46	119749	broad.mit.edu	37	11	51516009	51516009	+	Missense_Mutation	SNP	C	C	T	rs137991158		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr11:51516009C>T	uc010ric.2	+	0	728	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCCCACATCACGGTTGTCATC	0.468												
LRRC23	10233	broad.mit.edu	37	12	7021983	7021983	+	Missense_Mutation	SNP	C	C	T	rs78482853	by1000genomes	TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:7021983C>T	uc001qrt.4	+	6	1240	c.848C>T	c.(847-849)aCg>aTg	p.T283M	LRRC23_uc001qrp.3_Missense_Mutation_p.T283M|LRRC23_uc001qrq.3_Intron|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Intron|ENO2_uc001qru.1_5'Flank|ENO2_uc009zfi.1_5'Flank|ENO2_uc010sfq.1_5'Flank|ENO2_uc001qrv.1_5'Flank	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	283	LRRCT.									NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AACCCATGCACGGACGAAACC	0.602												
PTPN6	5777	broad.mit.edu	37	12	7061224	7061224	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:7061224G>A	uc001qsb.2	+	2	452	c.210G>A	c.(208-210)gcG>gcA	p.A70A	PTPN6_uc001qsa.1_Silent_p.A72A|PTPN6_uc010sfr.1_Silent_p.A31A|PTPN6_uc009zfl.1_Silent_p.A70A|PTPN6_uc010sfs.1_Silent_p.A58A	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	70	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						AGAAGTTTGCGACTCTGACAG	0.587												
ADAMTS20	80070	broad.mit.edu	37	12	43823483	43823483	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:43823483G>A	uc010skx.2	-	23	3426	c.3426C>T	c.(3424-3426)acC>acT	p.T1142T	ADAMTS20_uc001rno.1_Intron|ADAMTS20_uc001rnp.1_Silent_p.T296T	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1142						proteinaceous extracellular matrix	zinc ion binding	p.A1141S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAATAAAGCGGTCTCAAGTT	0.338												
GALNT4	8693	broad.mit.edu	37	12	89917757	89917757	+	Silent	SNP	G	G	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:89917757G>T	uc001tbd.3	-	0	827	c.570C>A	c.(568-570)atC>atA	p.I190I	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Silent_p.I187I|GALNT4_uc010suo.2_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	190	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CAAGATTGCTGATGTAAGTTT	0.458											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RIC8B	55188	broad.mit.edu	37	12	107177813	107177814	+	Frame_Shift_Ins	INS	-	-	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:107177813_107177814insA	uc001tlw.3	+	1	248_249	c.123_124insA	c.(121-126)gataaafs	p.D41fs	RIC8B_uc001tlx.3_Frame_Shift_Ins_p.D41fs|RIC8B_uc001tly.3_5'UTR|RIC8B_uc001tlz.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	41					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAGATGAAGATAAAAGAAAGGT	0.351												
USP30	84749	broad.mit.edu	37	12	109495849	109495849	+	Silent	SNP	C	C	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:109495849C>A	uc010sxi.2	+	2	416	c.312C>A	c.(310-312)tcC>tcA	p.S104S	USP30_uc001tnu.4_Silent_p.S73S	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	104					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCCAGTACTCCAGGGATCAGA	0.478												
CCDC60	160777	broad.mit.edu	37	12	119773039	119773039	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:119773039C>T	uc001txe.3	+	0	523	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	20										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGGGCTGTCCGGCCCTTTTA	0.502												
EXD1	161829	broad.mit.edu	37	15	41501708	41501708	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr15:41501708G>A	uc010ucv.2	-	6	797	c.525C>T	c.(523-525)tgC>tgT	p.C175C	EXD1_uc001znk.3_Silent_p.C117C	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	117					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.L175M(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CCTGCAGCCAGCACAGTTTGC	0.373												
PKD1L2	114780	broad.mit.edu	37	16	81175094	81175094	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr16:81175094C>G	uc002fgh.1	-	30	5225	c.5225G>C	c.(5224-5226)aGt>aCt	p.S1742T	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1742					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAGGGGCCACTCCGTGCCGC	0.587												
POLR2A	5430	broad.mit.edu	37	17	7417217	7417217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr17:7417217delT	uc002ghf.4	+	28	6020	c.5634delT	c.(5632-5634)agtfs	p.S1878fs		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1878	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCCTACCAGTcccacctatt	0.527												
AZI1	22994	broad.mit.edu	37	17	79164553	79164553	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr17:79164553C>T	uc002jzp.1	-	23	3202	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	AZI1_uc002jzm.1_Missense_Mutation_p.R433H|AZI1_uc002jzn.1_Missense_Mutation_p.R998H|AZI1_uc002jzo.1_Missense_Mutation_p.R962H|AZI1_uc010wum.1_Missense_Mutation_p.R965H|AZI1_uc002jzq.3_Missense_Mutation_p.R149H	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	1001					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAACTCCTGGCGGATCACCTG	0.692												
DSG4	147409	broad.mit.edu	37	18	28989414	28989414	+	Splice_Site	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:28989414G>A	uc002kwr.2	+	13	2069	c.1934_splice	c.e13-1	p.L645_splice	DSG4_uc002kwq.2_Splice_Site_p.L645_splice	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	645					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCTTGGGCAGTGGCTCCACT	0.498												
C18orf34	374864	broad.mit.edu	37	18	30950074	30950074	+	Silent	SNP	G	G	C			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:30950074G>C	uc010xbr.1	-	4	430	c.288C>G	c.(286-288)gtC>gtG	p.V96V	C18orf34_uc002kxn.2_Silent_p.V96V|C18orf34_uc010dmf.1_Silent_p.V96V|C18orf34_uc002kxo.2_Silent_p.V96V|C18orf34_uc002kxp.3_Silent_p.V96V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	96										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TCATTTTGTTGACACAAGGTG	0.378												
SERPINB13	5275	broad.mit.edu	37	18	61262397	61262397	+	Silent	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:61262397C>T	uc010xep.2	+	6	945	c.777C>T	c.(775-777)aaC>aaT	p.N259N	SERPINB13_uc002ljc.3_Silent_p.N250N|SERPINB13_uc002ljd.3_Silent_p.N114N|SERPINB13_uc010xeq.2_Silent_p.N71N|SERPINB13_uc010xer.2_Silent_p.N71N	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	250					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.N250N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCTGCCCAACGACATCGATG	0.458												
TJP3	27134	broad.mit.edu	37	19	3728405	3728405	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:3728405C>T	uc010xhv.2	+	0	32	c.32C>T	c.(31-33)cCc>cTc	p.P11L	TJP3_uc010xhs.2_Intron|TJP3_uc010xht.2_Intron|TJP3_uc010xhu.2_Intron|TJP3_uc010xhw.2_Missense_Mutation_p.P11L	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	0	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTTCCCCGCTCCCCTC	0.627												
CD70	970	broad.mit.edu	37	19	6586314	6586314	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:6586314C>T	uc010xjf.1	-	2	449	c.299G>A	c.(298-300)cGt>cAt	p.R100H	CD70_uc002mfi.3_Missense_Mutation_p.R100H	NM_001252	NP_001243	P32970	CD70_HUMAN	Homo sapiens CD70 molecule (CD70), mRNA.	100					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						GATGCCATCACGATGGATACG	0.642												
RETN	56729	broad.mit.edu	37	19	7734784	7734784	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:7734784G>A	uc002mhg.1	+	3	233	c.196_splice	c.e3+1	p.G66_splice	RETN_uc002mhf.1_Splice_Site_p.G66_splice|RETN_uc010dvm.1_Intron	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	66							hormone activity			ovary(1)	1						TTGCCCCCGAGGTGAGTGCAG	0.627												
PODNL1	79883	broad.mit.edu	37	19	14046601	14046601	+	Missense_Mutation	SNP	C	C	T	rs147712582	byFrequency	TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:14046601C>T	uc002mxr.3	-	4	722	c.448G>A	c.(448-450)Gcg>Acg	p.A150T	PODNL1_uc010xni.2_Missense_Mutation_p.A68T|PODNL1_uc010xnj.2_Missense_Mutation_p.A148T|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	150	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GCCAGATCCGCGACACGGAGG	0.667												
FCGBP	8857	broad.mit.edu	37	19	40395990	40395990	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:40395990G>A	uc002omp.4	-	14	7415	c.7407C>T	c.(7405-7407)ttC>ttT	p.F2469F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2469	VWFD 6.					extracellular region	protein binding	p.R2468H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATGAAGTCGAAGCGGCGGC	0.672												
PRR12	57479	broad.mit.edu	37	19	50105110	50105110	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:50105110G>A	uc002poo.4	+	5	4708	c.4708G>A	c.(4708-4710)Gga>Aga	p.G1570R		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	749							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGAGAGTGGCGGAGAGGGCAT	0.647												
MYT1L	23040	broad.mit.edu	37	2	1926965	1926965	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr2:1926965G>A	uc002qxe.3	-	9	1403	c.576C>T	c.(574-576)gaC>gaT	p.D192D	MYT1L_uc002qxd.3_Silent_p.D192D|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	192					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCATATTCGTCATTATTGT	0.388												
XDH	7498	broad.mit.edu	37	2	31620554	31620554	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr2:31620554C>A	uc002rnv.1	-	5	554	c.475G>T	c.(475-477)Ggc>Tgc	p.G159C		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	159					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.Q158*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTCCGGAAGCCCTGGAGGATG	0.552												
TMPRSS6	164656	broad.mit.edu	37	22	37482392	37482392	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr22:37482392C>T	uc003aqt.1	-	7	966	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V311I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V302I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	311	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCTTCCAGACGACCGCCATG	0.667												
CHL1	10752	broad.mit.edu	37	3	440026	440026	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:440026A>T	uc003bot.3	+	24	3853	c.3211A>T	c.(3211-3213)Aat>Tat	p.N1071Y	CHL1_uc003bou.3_Missense_Mutation_p.N1055Y|CHL1_uc003bow.2_Missense_Mutation_p.N1055Y|CHL1_uc011asi.2_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1055					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.D1070N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGGGGCGATAATGATAGCAT	0.383												
FGD5	152273	broad.mit.edu	37	3	14861539	14861539	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:14861539G>A	uc003bzc.3	+	0	1071	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	FGD5_uc011avk.2_Missense_Mutation_p.A321T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	321	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGATGAGTCCGCCGAGGAGAG	0.552												
VILL	50853	broad.mit.edu	37	3	38035909	38035909	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:38035909A>G	uc003chj.3	+	3	579	c.293A>G	c.(292-294)cAg>cGg	p.Q98R	VILL_uc003chk.1_Missense_Mutation_p.Q98R|VILL_uc003chl.3_Missense_Mutation_p.Q98R|VILL_uc010hgu.3_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	98					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CGCGAGGCGCAGGGCCACGAG	0.721												
NPRL2	10641	broad.mit.edu	37	3	50385755	50385755	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:50385755G>A	uc003daj.1	-	7	1210	c.807C>T	c.(805-807)acC>acT	p.T269T	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	269					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TACCTTGCTTGGTCACGTAGG	0.577												
STXBP5L	9515	broad.mit.edu	37	3	120833881	120833881	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:120833881A>G	uc003eec.4	+	5	720	c.580A>G	c.(580-582)Atc>Gtc	p.I194V	STXBP5L_uc011bji.2_Missense_Mutation_p.I194V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	194					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGGATATGTTATCATGTGGAA	0.318												
SI	6476	broad.mit.edu	37	3	164730787	164730787	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:164730787G>A	uc003fei.3	-	33	4106	c.4043C>T	c.(4042-4044)aCg>aTg	p.T1348M		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1348	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCATCTTCCGTTAGAGTTTT	0.323										HNSCC(35;0.089)		
DGKQ	1609	broad.mit.edu	37	4	956666	956666	+	Silent	SNP	C	C	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:956666C>A	uc003gbw.3	-	16	2003	c.1929G>T	c.(1927-1929)gtG>gtT	p.V643V	DGKQ_uc010ibn.3_Silent_p.V630V	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	643	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCACCACACACCAGCACCC	0.682												
PRKG2	5593	broad.mit.edu	37	4	82056416	82056416	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:82056416C>T	uc003hmh.2	-	12	1682	c.1669G>A	c.(1669-1671)Gtt>Att	p.V557I	PRKG2_uc011ccf.1_Missense_Mutation_p.V137I|PRKG2_uc011ccg.1_Missense_Mutation_p.V137I|PRKG2_uc011cch.1_Missense_Mutation_p.V528I	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	557	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACACAAGCAACGCAGAATTTG	0.413												
FAT4	79633	broad.mit.edu	37	4	126372061	126372061	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:126372061G>A	uc003ifj.4	+	8	9890	c.9890G>A	c.(9889-9891)cGt>cAt	p.R3297H	FAT4_uc011cgp.2_Missense_Mutation_p.R1595H|FAT4_uc003ifi.1_Missense_Mutation_p.R775H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3297	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGTGCCCCGTTTTGTTTCC	0.403												
DCHS2	54798	broad.mit.edu	37	4	155241880	155241880	+	Silent	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:155241880C>T	uc003inw.2	-	13	3306	c.3306G>A	c.(3304-3306)acG>acA	p.T1102T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1102	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAATGGATTCGTGCCAGGGT	0.453												
KIAA1430	57587	broad.mit.edu	37	4	186111564	186111564	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:186111564T>C	uc003ixf.4	-	1	934	c.787A>G	c.(787-789)Att>Gtt	p.I263V	KIAA1430_uc003ixg.3_Missense_Mutation_p.I263V	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	263										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AGAGGGCTAATGTCTGGAGTT	0.398												
TUBB7P	56604	broad.mit.edu	37	4	190904404	190904404	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:190904404T>C	uc011clg.2	-	3	581	c.363A>G	c.(361-363)atA>atG	p.I121M				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	193					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										CTGCGTTTTCTATGAGCTGGT	0.507												
CDH18	1016	broad.mit.edu	37	5	19544032	19544032	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:19544032G>A	uc003jgd.3	-	8	1870	c.1336C>T	c.(1336-1338)Ctc>Ttc	p.L446F	CDH18_uc011cnm.2_Missense_Mutation_p.L446F|CDH18_uc003jgc.3_Missense_Mutation_p.L446F|CDH18_uc021xwu.1_Missense_Mutation_p.L446F	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	446	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTCTGTCGAGAACCTTTGTA	0.363												
PIK3R1	5295	broad.mit.edu	37	5	67591247	67591249	+	Splice_Site	DEL	GGT	GGT	-			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:67591247_67591249delGGT	uc003jva.3	+	14	2326	c.1746_splice	c.e14-1	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGTTTTTCAGGTGGTTGACTCA	0.365			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
CDK7	1022	broad.mit.edu	37	5	68555711	68555711	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:68555711G>A	uc003jvs.4	+	6	656	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	CDK7_uc021xzo.1_Missense_Mutation_p.A159T|CDK7_uc003jvt.4_Missense_Mutation_p.A118T	NM_001799	NP_001790	P50613	CDK7_HUMAN	Homo sapiens cyclin-dependent kinase 7 (CDK7), mRNA.	159	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TTTTGGCCTGGCCAAATCTTT	0.388								Nucleotide excision repair (NER)				
FAM13B	51306	broad.mit.edu	37	5	137275998	137275998	+	Silent	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:137275998C>T	uc003lbz.2	-	22	3198	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	FAM13B_uc003lcb.2_Silent_p.E764E|FAM13B_uc003lca.2_Silent_p.E860E|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.3_3'UTR|PKD2L2_uc003lby.3_Intron|PKD2L2_uc011cyi.1_3'UTR	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	888					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ACTCTCTGTACTCCTCAAGCA	0.353												
PREP	5550	broad.mit.edu	37	6	105800946	105800946	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr6:105800946C>T	uc003prc.3	-	6	957	c.724G>A	c.(724-726)Gat>Aat	p.D242N		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	242					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGGCCATCATCAGATAACTAA	0.353												
SLC29A4	222962	broad.mit.edu	37	7	5340251	5340251	+	Silent	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:5340251C>T	uc003sod.3	+	9	1569	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	SLC29A4_uc003soc.3_Silent_p.L470L|SLC29A4_uc003soe.3_Silent_p.L456L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	470					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCATGATCCTGGCGGCAGG	0.706												
DNAH11	8701	broad.mit.edu	37	7	21641054	21641054	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:21641054G>A	uc003svc.3	+	17	3497	c.3466G>A	c.(3466-3468)Gga>Aga	p.G1156R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1156	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACAGATTCCGGACTTCAGAG	0.343									Kartagener syndrome			
EGFR	1956	broad.mit.edu	37	7	55220278	55220278	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:55220278G>A	uc003tqk.3	+	5	914	c.668G>A	c.(667-669)tGc>tAc	p.C223Y	EGFR_uc003tqh.3_Missense_Mutation_p.C223Y|EGFR_uc003tqi.3_Missense_Mutation_p.C223Y|EGFR_uc003tqj.3_Missense_Mutation_p.C223Y|EGFR_uc022adm.1_Missense_Mutation_p.C223Y|EGFR_uc010kzg.2_Missense_Mutation_p.C178Y|EGFR_uc022adn.1_Missense_Mutation_p.C178Y|EGFR_uc011kco.2_Missense_Mutation_p.C170Y|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	223					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.V30_R297>G(5)|p.R222C(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)	TCCGGGCGCTGCCGTGGCAAG	0.602		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55238870	55238870	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:55238870G>T	uc003tqk.3	+	15	2129	c.1883G>T	c.(1882-1884)tGc>tTc	p.C628F	EGFR_uc022adm.1_Missense_Mutation_p.C628F|EGFR_uc010kzg.2_Missense_Mutation_p.C583F|EGFR_uc022adn.1_Missense_Mutation_p.C583F|EGFR_uc011kco.2_Missense_Mutation_p.C575F|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	628					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			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)	TCCTACAGATGCACTGGGCCA	0.393		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
POM121C	100101267	broad.mit.edu	37	7	75068439	75068439	+	Silent	SNP	G	G	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:75068439G>T	uc003udk.4	-	5	1176	c.291C>A	c.(289-291)ccC>ccA	p.P97P	POM121C_uc010lde.1_Silent_p.P339P	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	339	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAAAAGAAGCGGGGACTCCAC	0.468												
MYOM2	9172	broad.mit.edu	37	8	2005570	2005570	+	Missense_Mutation	SNP	G	G	A	rs147661043		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:2005570G>A	uc003wpx.4	+	3	506	c.368G>A	c.(367-369)cGc>cAc	p.R123H	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	123					muscle contraction	myosin filament	structural constituent of muscle	p.R123H(4)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCCAGGCCCGCGACAAGCTG	0.617												
CHRNB3	1142	broad.mit.edu	37	8	42587374	42587374	+	Silent	SNP	C	C	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:42587374C>A	uc003xpi.1	+	4	1052	c.924C>A	c.(922-924)acC>acA	p.T308T		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	308					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTTTGTGACCCTGTCCATCA	0.448												
KCNV1	27012	broad.mit.edu	37	8	110984560	110984560	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:110984560G>A	uc003ynr.4	-	1	1722	c.918C>T	c.(916-918)aaC>aaT	p.N306N	KCNV1_uc010mcw.3_Silent_p.N306N	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	306						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGCGCCCCACGTTCTCCAGCT	0.532												
GCNT1	2650	broad.mit.edu	37	9	79117571	79117571	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr9:79117571G>A	uc022bif.1	+	0	274	c.274G>A	c.(274-276)Gac>Aac	p.D92N	GCNT1_uc010mpf.3_Missense_Mutation_p.D92N|GCNT1_uc010mpg.3_Missense_Mutation_p.D92N|GCNT1_uc010mph.3_Missense_Mutation_p.D92N|GCNT1_uc004akf.4_Missense_Mutation_p.D92N|GCNT1_uc010mpi.3_Missense_Mutation_p.D92N|GCNT1_uc004akh.4_Missense_Mutation_p.D92N	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	92	Stem region (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GACACCTGACGACTATATAAA	0.393												
FAM47B	170062	broad.mit.edu	37	X	34962542	34962542	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:34962542C>T	uc004ddi.2	+	0	1630	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	532								p.R532C(4)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACAGGAGACGCCGGGCGGC	0.498												
WNK3	65267	broad.mit.edu	37	X	54319681	54319681	+	Silent	SNP	T	T	C			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:54319681T>C	uc004dtc.2	-	8	2212	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S	WNK3_uc004dtd.2_Silent_p.S591S	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	591					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCGTTTGATTTGAGGAATAGG	0.398												
LAS1L	81887	broad.mit.edu	37	X	64744052	64744052	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:64744052G>A	uc004dwa.2	-	9	1275	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	LAS1L_uc004dwc.2_Missense_Mutation_p.T378M|LAS1L_uc004dwd.2_Missense_Mutation_p.T336M	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	395						MLL1 complex|nucleolus	protein binding	p.T395T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TAGGGCCTGCGTGAAGTTCTG	0.567												
BTK	695	broad.mit.edu	37	X	100611220	100611220	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:100611220G>A	uc010nno.2	-	14	1721	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Silent_p.G32G|BTK_uc004ehg.2_Silent_p.G462G|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Silent_p.G462G	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	462	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGTGCAGACGCCATACAACT	0.522									Agammaglobulinemia, X-linked			
SOX3	6658	broad.mit.edu	37	X	139586734	139586734	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:139586734C>G	uc004fbd.1	-	0	492	c.492G>C	c.(490-492)atG>atC	p.M164I		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	164					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CAGAATTGTGCATCTTGGGGT	0.622												
PNMA5	114824	broad.mit.edu	37	X	152159506	152159506	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:152159506G>A	uc022chn.1	-	0	637	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PNMA5_uc010ntx.3_Missense_Mutation_p.R213W|PNMA5_uc010ntw.3_Missense_Mutation_p.R213W|PNMA5_uc004fgy.4_Missense_Mutation_p.R213W|PNMA5_uc022chm.1_Missense_Mutation_p.R213W	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	213					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCACCCGCATGATTGAC	0.527												
F8	2157	broad.mit.edu	37	X	154185438	154185438	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:154185438G>A	uc004fmt.3	-	10	1717	c.1546C>T	c.(1546-1548)Cat>Tat	p.H516Y		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	516	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCTTCAAATGTTTTACACCT	0.378